#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
ZDHHC16	84287	genome.wustl.edu	37	10	99216759	99216759	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99216759C>T	ENST00000370854.3	+	0	1434				ZDHHC16_ENST00000352634.4_3'UTR|ZDHHC16_ENST00000370846.4_3'UTR|ZDHHC16_ENST00000393760.1_3'UTR|ZDHHC16_ENST00000353979.3_3'UTR|ZDHHC16_ENST00000370842.2_3'UTR|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_3'UTR	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16						apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCCAGTGGGCCTGCCTTAGGG	0.483													ENSG00000171307																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.*111C>T	10.37:g.99216759C>T			D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	R	SNP	-	NULL	ENST00000370854.3	37	NULL	CCDS7460.1	10																																																																																			-	ZDHHC16	-	-		0.483	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2	0	0	0	100	100	123	0.00	0.00	C	NM_032327		99216759	+1	37	44	25	34	tier1	no_errors	ENST00000487315	ensembl	human	known	74_37	rna	59.68	56.41	SNP	0.984	T	37	25
AKNAD1	254268	genome.wustl.edu	37	1	109365795	109365795	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109365795C>T	ENST00000370001.3	-	13	2436				AKNAD1_ENST00000369995.3_Missense_Mutation_p.E756K|AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000357393.4_3'UTR|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E717K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1							cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCATATTTTCCAGCCCCAGC	0.478													ENSG00000162641																																					0																																										SO:0001627	intron_variant	0			-	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2167+196G>A	1.37:g.109365795C>T			B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.E756K	ENST00000370001.3	37	c.2266	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859556	0.32884	.	.	ENSG00000162641	ENST00000369994;ENST00000369995	T;T	0.08102	3.13;3.13	3.31	0.38	0.16222	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47736	-0.9094	6	0.11182	T	0.66	.	5.501	0.16829	0.0:0.6239:0.0:0.3761	.	.	.	.	K	717;756	ENSP00000359011:E717K;ENSP00000359012:E756K	ENSP00000359011:E717K	E	-	1	0	AKNAD1	109167318	0.002000	0.14202	0.000000	0.03702	0.140000	0.21249	0.048000	0.14078	0.089000	0.17243	0.655000	0.94253	GAA	-	AKD1	-	NULL		0.478	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding	OTTHUMT00000030923.2	0	0	0	47	47	123	0.00	0.00	C	NM_152763		109365795	-1	9	24	65	70	tier1	no_errors	ENST00000369995	ensembl	human	known	74_37	missense	12.16	25.53	SNP	0.000	T	9	65
ZNF791	163049	genome.wustl.edu	37	19	12734576	12734576	+	Silent	SNP	T	T	G	rs372208322		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:12734576T>G	ENST00000343325.4	+	2	228	c.66T>G	c.(64-66)gcT>gcG	p.A22A	ZNF791_ENST00000446165.1_Silent_p.A22A|ZNF791_ENST00000540038.1_Intron|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_5'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CTCTGCTGGCTCCTTCACAGA	0.418													ENSG00000173875																																					0													94.0	95.0	94.0					19																	12734576		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.66T>G	19.37:g.12734576T>G			B7Z586|Q8NC99	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A22	ENST00000343325.4	37	c.66	CCDS12273.1	19																																																																																			-	ZNF791	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.418	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	0	0	0	45	45	29	0.00	0.00	T	NM_153358		12734576	+1	13	4	53	26	tier1	no_errors	ENST00000343325	ensembl	human	known	74_37	silent	19.70	12.90	SNP	0.638	G	13	53
ATP13A4	84239	genome.wustl.edu	37	3	193182748	193182748	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:193182748T>C	ENST00000342695.4	-	12	1764	c.1442A>G	c.(1441-1443)aAc>aGc	p.N481S	ATP13A4_ENST00000295548.3_Missense_Mutation_p.N481S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.N462S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	481						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCAGACAAGGTTTAACTGTCC	0.438													ENSG00000127249																																					0													167.0	153.0	158.0					3																	193182748		2203	4300	6503	SO:0001583	missense	0			-	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1442A>G	3.37:g.193182748T>C	ENSP00000339182:p.Asn481Ser		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.N481S	ENST00000342695.4	37	c.1442	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567634	0.65651	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.75704	-0.96;-0.96;-0.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	L	0.43646	1.37	0.49915	D	0.999838	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.83641	0.0150	10	0.72032	D	0.01	-32.6497	16.0034	0.80327	0.0:0.0:0.0:1.0	.	481;481;481	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	S	462;481;481	ENSP00000376238:N462S;ENSP00000339182:N481S;ENSP00000295548:N481S	ENSP00000295548:N481S	N	-	2	0	ATP13A4	194665442	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	6.103000	0.71492	2.371000	0.80710	0.533000	0.62120	AAC	-	ATP13A4	-	pfam_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase		0.438	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	0	0	0	57	57	90	0.00	0.00	T	NM_032279		193182748	-1	21	25	46	68	tier1	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	31.34	26.88	SNP	1.000	C	21	46
RASSF9	9182	genome.wustl.edu	37	12	86198702	86198702	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:86198702C>T	ENST00000361228.3	-	2	1454	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	362					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTGAATTCCTTGGCCAGGA	0.408													ENSG00000198774																																					0													177.0	177.0	177.0					12																	86198702		1862	4104	5966	SO:0001819	synonymous_variant	0			-		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1086G>A	12.37:g.86198702C>T			B3KMQ4|Q8N5U8	Silent	SNP	smart_Ras-assoc,pfscan_Ras-assoc	p.K362	ENST00000361228.3	37	c.1086	CCDS44950.1	12																																																																																			-	RASSF9	-	NULL		0.408	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	HGNC	protein_coding	OTTHUMT00000406109.1	0	0	0	31	31	106	0.00	0.00	C			86198702	-1	7	9	23	39	tier1	no_errors	ENST00000361228	ensembl	human	known	74_37	silent	22.58	18.75	SNP	0.989	T	7	23
POSTN	10631	genome.wustl.edu	37	13	38145479	38145479	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:38145479C>T	ENST00000379747.4	-	18	2297				POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379743.4_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CGAAGGTAGTCGGCCCCAGGT	0.343													ENSG00000133110																																					0													151.0	126.0	134.0					13																	38145479		2203	4299	6502	SO:0001627	intron_variant	0			-	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2179+26G>A	13.37:g.38145479C>T			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	R	SNP	-	NULL	ENST00000379747.4	37	NULL	CCDS9364.1	13																																																																																			-	POSTN	-	-		0.343	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	0	0	0	70	70	156	0.00	0.00	C	NM_006475		38145479	-1	12	43	34	100	tier1	no_errors	ENST00000497145	ensembl	human	known	74_37	rna	26.09	30.07	SNP	0.000	T	12	34
OR10X1	128367	genome.wustl.edu	37	1	158548922	158548922	+	Silent	SNP	G	G	A	rs36024740		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:158548922G>A	ENST00000368150.1	-	1	767	c.768C>T	c.(766-768)acC>acT	p.T256T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGGAGGCACAGGTGGTGAAGG	0.488													ENSG00000186400																																					0													142.0	141.0	142.0					1																	158548922		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.768C>T	1.37:g.158548922G>A			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T256	ENST00000368150.1	37	c.768	CCDS30900.1	1																																																																																			-	OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	0	0	0	32	32	72	0.00	0.00	G	NM_001004477		158548922	-1	9	27	16	36	tier1	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	36.00	42.86	SNP	0.982	A	9	16
SYNGR1	9145	genome.wustl.edu	37	22	39770609	39770609	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:39770609C>T	ENST00000328933.5	+	2	352				SYNGR1_ENST00000381535.4_Intron|SYNGR1_ENST00000406293.3_Intron|SYNGR1_ENST00000216155.7_Intron|SYNGR1_ENST00000318801.4_Intron	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1						protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					AGAGGGCTGTCCCGGccatag	0.617													ENSG00000100321																																					0													23.0	20.0	21.0					22																	39770609		2202	4292	6494	SO:0001627	intron_variant	0			-	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.337+51C>T	22.37:g.39770609C>T			A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	pfam_Marvel	p.P130S	ENST00000328933.5	37	c.388	CCDS13989.1	22																																																																																			-	SYNGR1	-	NULL		0.617	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR1	HGNC	protein_coding	OTTHUMT00000075866.2	0	0	0	51	51	49	0.00	0.00	C	NM_004711		39770609	+1	18	22	31	35	tier1	no_errors	ENST00000415332	ensembl	human	known	74_37	missense	36.73	38.60	SNP	0.004	T	18	31
PAK7	57144	genome.wustl.edu	37	20	9546748	9546748	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:9546748G>A	ENST00000378429.3	-	6	1820	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	PAK7_ENST00000378423.1_Missense_Mutation_p.S425F|PAK7_ENST00000353224.5_Missense_Mutation_p.S425F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	425	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGACACCCTGGAGGGCTGCTG	0.627													ENSG00000101349																																					0													58.0	59.0	58.0					20																	9546748		2203	4300	6503	SO:0001583	missense	0			-	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1274C>T	20.37:g.9546748G>A	ENSP00000367686:p.Ser425Phe		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.S425F	ENST00000378429.3	37	c.1274	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227454	0.79576	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.74526	-0.85;-0.85;-0.85	5.66	5.66	0.87406	.	0.112873	0.64402	D	0.000002	T	0.71082	0.3298	L	0.47716	1.5	0.58432	D	0.999995	D;D	0.58970	0.984;0.984	B;B	0.42188	0.379;0.379	T	0.71397	-0.4605	9	.	.	.	.	19.7589	0.96306	0.0:0.0:1.0:0.0	.	425;425	B0AZM9;Q9P286	.;PAK7_HUMAN	F	425;425;425;373	ENSP00000367686:S425F;ENSP00000322957:S425F;ENSP00000367679:S425F	.	S	-	2	0	PAK7	9494748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.349000	0.73013	2.654000	0.90174	0.585000	0.79938	TCC	-	PAK7	-	NULL		0.627	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	0	0	0	41	41	30	0.00	0.00	G			9546748	-1	19	13	23	17	tier1	no_errors	ENST00000353224	ensembl	human	known	74_37	missense	45.24	43.33	SNP	1.000	A	19	23
ANK3	288	genome.wustl.edu	37	10	61833091	61833091	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61833091G>A	ENST00000280772.2	-	37	7739	c.7548C>T	c.(7546-7548)tcC>tcT	p.S2516S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2516					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATAGATTTTGGAGAGAATTT	0.413													ENSG00000151150																																					0													102.0	111.0	108.0					10																	61833091		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7548C>T	10.37:g.61833091G>A			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S2516	ENST00000280772.2	37	c.7548	CCDS7258.1	10																																																																																			-	ANK3	-	NULL		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	0	0	0	87	87	120	0.00	0.00	G	NM_020987		61833091	-1	38	44	24	20	tier1	no_errors	ENST00000280772	ensembl	human	known	74_37	silent	61.29	68.75	SNP	1.000	A	38	24
PTPRF	5792	genome.wustl.edu	37	1	44057050	44057050	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:44057050C>T	ENST00000359947.4	+	9	1697	c.1357C>T	c.(1357-1359)Ccg>Tcg	p.P453S	PTPRF_ENST00000372413.3_Missense_Mutation_p.P453S|PTPRF_ENST00000372414.3_Missense_Mutation_p.P453S|PTPRF_ENST00000438120.1_Missense_Mutation_p.P453S|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	453	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTACTATACTCCGGACTCCCG	0.687													ENSG00000142949																																					0													10.0	10.0	10.0					1																	44057050		2137	4200	6337	SO:0001583	missense	0			-	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1357C>T	1.37:g.44057050C>T	ENSP00000353030:p.Pro453Ser		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.P453S	ENST00000359947.4	37	c.1357	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.753|4.753	0.140038|0.140038	0.09083|0.09083	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568	T;T;T;T|.	0.57436|.	0.4;0.4;0.4;0.4|.	5.62|5.62	4.65|4.65	0.58169|0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.34002|.	N|.	0.004356|.	T|T	0.29288|0.29288	0.0729|0.0729	N|N	0.02345|0.02345	-0.59|-0.59	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28350|.	0.001;0.208;0.003|.	B;B;B|.	0.27887|.	0.006;0.084;0.01|.	T|T	0.16689|0.16689	-1.0394|-1.0394	10|5	0.06494|.	T|.	0.89|.	.|.	12.224|12.224	0.54449|0.54449	0.3222:0.6778:0.0:0.0|0.3222:0.6778:0.0:0.0	.|.	109;453;453|.	Q59FI2;P10586-2;P10586|.	.;.;PTPRF_HUMAN|.	S|F	453|120	ENSP00000353030:P453S;ENSP00000398822:P453S;ENSP00000361491:P453S;ENSP00000361490:P453S|.	ENSP00000353030:P453S|.	P|S	+|+	1|2	0|0	PTPRF|PTPRF	43829637|43829637	0.003000|0.003000	0.15002|0.15002	0.578000|0.578000	0.28575|0.28575	0.543000|0.543000	0.35085|0.35085	1.576000|1.576000	0.36504|0.36504	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CCG|TCC	-	PTPRF	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.687	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	0	0	0	14	14	30	0.00	0.00	C			44057050	+1	6	25	4	15	tier1	no_errors	ENST00000359947	ensembl	human	known	74_37	missense	60.00	62.50	SNP	0.802	T	6	4
RYR3	6263	genome.wustl.edu	37	15	34042484	34042484	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:34042484C>T	ENST00000389232.4	+	57	8466	c.8396C>T	c.(8395-8397)tCc>tTc	p.S2799F	RYR3_ENST00000415757.3_Missense_Mutation_p.S2799F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2799	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCATAGTTTCCAGGTAAGTC	0.468													ENSG00000198838																																					0													82.0	77.0	78.0					15																	34042484		1941	4150	6091	SO:0001583	missense	0			-		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8396C>T	15.37:g.34042484C>T	ENSP00000373884:p.Ser2799Phe		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S2799F	ENST00000389232.4	37	c.8396	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039241	0.35989	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91843	-2.92;-2.92	4.75	4.75	0.60458	Ryanodine receptor Ryr (1);	0.227351	0.36444	N	0.002584	D	0.93177	0.7827	L	0.43152	1.355	0.49213	D	0.99976	P;P	0.51057	0.941;0.843	P;P	0.57468	0.648;0.821	D	0.92513	0.6018	10	0.40728	T	0.16	.	18.2902	0.90127	0.0:1.0:0.0:0.0	.	2799;2799	Q15413-2;Q15413	.;RYR3_HUMAN	F	2799	ENSP00000373884:S2799F;ENSP00000399610:S2799F	ENSP00000354735:S2799F	S	+	2	0	RYR3	31829776	0.999000	0.42202	0.994000	0.49952	0.069000	0.16628	3.734000	0.55037	2.619000	0.88677	0.655000	0.94253	TCC	-	RYR3	-	pfam_Ryanodine_rcpt,superfamily_ARM-type_fold		0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	0	0	1	49	49	163	0.00	0.61	C			34042484	+1	11	51	15	36	tier1	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	42.31	57.95	SNP	0.993	T	11	15
CACNA1E	777	genome.wustl.edu	37	1	181549753	181549753	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:181549753C>T	ENST00000367573.2	+	6	792	c.792C>T	c.(790-792)ccC>ccT	p.P264P	CACNA1E_ENST00000360108.3_Silent_p.P264P|CACNA1E_ENST00000357570.5_Silent_p.P215P|CACNA1E_ENST00000367570.1_Silent_p.P264P|CACNA1E_ENST00000358338.5_Silent_p.P215P|CACNA1E_ENST00000526775.1_Silent_p.P264P|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	264					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATTTGACCCCCCTCACCCAT	0.502													ENSG00000198216																																					0													188.0	182.0	184.0					1																	181549753		1974	4153	6127	SO:0001819	synonymous_variant	0			-	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.792C>T	1.37:g.181549753C>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.P264	ENST00000367573.2	37	c.792	CCDS55664.1	1																																																																																			-	CAC1E	-	pfam_Ion_trans_dom,prints_VDCC_R_a1su		0.502	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CAC1E	HGNC	protein_coding	OTTHUMT00000090793.2	0	0	0	77	77	94	0.00	0.00	C	NM_000721		181549753	+1	16	13	39	61	tier1	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	29.09	17.57	SNP	0.934	T	16	39
LILRA2	11027	genome.wustl.edu	37	19	55098685	55098685	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55098685C>T	ENST00000251377.3	+	9	1457	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P442S|LILRA2_ENST00000251376.3_Missense_Mutation_p.P425S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|CTB-83J4.2_ENST00000596330.1_lincRNA|LILRA2_ENST00000391737.1_Missense_Mutation_p.P413S			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	442					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGGCCAACACCCCCAGGATTA	0.597													ENSG00000239998																																					0													132.0	112.0	119.0					19																	55098685		2203	4300	6503	SO:0001583	missense	0			-	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1324C>T	19.37:g.55098685C>T	ENSP00000251377:p.Pro442Ser		O75020	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P442S	ENST00000251377.3	37	c.1324	CCDS46179.1	19	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159815	0.09287	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.00522	7.06;7.06;6.92;6.84	2.47	0.173	0.15036	.	.	.	.	.	T	0.00328	0.0010	L	0.31476	0.935	0.09310	N	1	B;B;B	0.11235	0.001;0.002;0.004	B;B;B	0.12156	0.001;0.004;0.007	T	0.34403	-0.9830	9	0.12430	T	0.62	.	4.5505	0.12110	0.0:0.6492:0.0:0.3508	.	413;442;425	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	S	442;442;425;413	ENSP00000251377:P442S;ENSP00000375618:P442S;ENSP00000251376:P425S;ENSP00000375617:P413S	ENSP00000251376:P425S	P	+	1	0	LILRA2	59790497	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.276000	0.08514	-0.023000	0.13963	-0.192000	0.12808	CCC	-	LILRA2	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.597	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	0	0	0	106	106	71	0.00	0.00	C			55098685	+1	24	25	82	70	tier1	no_errors	ENST00000251377	ensembl	human	known	74_37	missense	22.64	26.32	SNP	0.007	T	24	82
ARPP21	10777	genome.wustl.edu	37	3	35835271	35835271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:35835271C>T	ENST00000187397.4	+	20	2716	c.2260C>T	c.(2260-2262)Caa>Taa	p.Q754*	ARPP21_ENST00000458225.1_Nonsense_Mutation_p.Q755*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.Q755*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.Q735*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.Q735*|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	754	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCAGGCAGGTCAAGGGTCACT	0.542													ENSG00000172995																																					0													121.0	112.0	115.0					3																	35835271		2203	4300	6503	SO:0001587	stop_gained	0			-	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2260C>T	3.37:g.35835271C>T	ENSP00000187397:p.Gln754*		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q755*	ENST00000187397.4	37	c.2263	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	40	7.913615	0.98557	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	6.03	6.03	0.97812	.	0.088294	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-6.7021	20.5666	0.99351	0.0:1.0:0.0:0.0	.	.	.	.	X	755;735;735;754;755	.	ENSP00000187397:Q754X	Q	+	1	0	ARPP21	35810275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.252000	0.72447	2.854000	0.98071	0.655000	0.94253	CAA	-	ARPP21	-	NULL		0.542	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	0	0	0	46	46	120	0.00	0.00	C	NM_198399		35835271	+1	19	69	41	122	tier1	no_errors	ENST00000417925	ensembl	human	known	74_37	nonsense	31.67	35.94	SNP	1.000	T	19	41
CFAP44	55779	genome.wustl.edu	37	3	113046491	113046491	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:113046491G>A	ENST00000393845.2	-	27	4358	c.4292C>T	c.(4291-4293)tCc>tTc	p.S1431F	WDR52_ENST00000308346.6_Missense_Mutation_p.S34F	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTTGTCTAAGGAATTAACACG	0.373													ENSG00000206530																																					0													221.0	168.0	184.0					3																	113046491		692	1591	2283	SO:0001583	missense	0			-																												ENST00000393845.2:c.4292C>T	3.37:g.113046491G>A	ENSP00000377428:p.Ser1431Phe			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1431F	ENST00000393845.2	37	c.4292	CCDS54624.1	3	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132410	0.56828	.	.	ENSG00000206530	ENST00000393845;ENST00000308346	T;T	0.44881	2.78;0.91	6.04	5.16	0.70880	.	1.034180	0.07566	N	0.917743	T	0.57577	0.2063	L	0.56769	1.78	0.28787	N	0.899522	D	0.67145	0.996	P	0.59115	0.852	T	0.45512	-0.9256	10	0.59425	D	0.04	-5.064	10.0109	0.41986	0.072:0.1375:0.7905:0.0	.	1431	Q96MT7-2	.	F	1431;34	ENSP00000377428:S1431F;ENSP00000311497:S34F	ENSP00000311497:S34F	S	-	2	0	WDR52	114529181	0.156000	0.22821	0.815000	0.32552	0.687000	0.40016	1.055000	0.30467	1.562000	0.49601	0.561000	0.74099	TCC	-	WDR52	-	NULL		0.373	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		0	0	0	48	48	118	0.00	0.00	G			113046491	-1	33	30	46	85	tier1	no_errors	ENST00000393845	ensembl	human	known	74_37	missense	41.25	26.09	SNP	0.842	A	33	46
MECOM	2122	genome.wustl.edu	37	3	168838988	168838988	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:168838988C>T	ENST00000464456.1	-	6	1624	c.424G>A	c.(424-426)Gac>Aac	p.D142N	MECOM_ENST00000494292.1_Missense_Mutation_p.D330N|MECOM_ENST00000392736.3_Missense_Mutation_p.D142N|MECOM_ENST00000460814.1_Missense_Mutation_p.D142N|MECOM_ENST00000433243.2_Missense_Mutation_p.D143N|MECOM_ENST00000264674.3_Missense_Mutation_p.D207N|MECOM_ENST00000472280.1_Missense_Mutation_p.D143N|MECOM_ENST00000468789.1_Missense_Mutation_p.D142N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGCTAGGGTCCGTGAAAACC	0.498													ENSG00000085276																																					0													62.0	62.0	62.0					3																	168838988		2203	4300	6503	SO:0001583	missense	0			-	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.424G>A	3.37:g.168838988C>T	ENSP00000419770:p.Asp142Asn		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D330N	ENST00000464456.1	37	c.988	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.751892	0.96890	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.51325	2.97;0.71;0.71;2.47;0.71;0.71;0.71;2.47;0.71	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.255067	0.29106	N	0.013132	T	0.53594	0.1806	N	0.10837	0.055	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.884;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.998;0.822;0.999;0.998;0.999	T	0.61476	-0.7055	10	0.54805	T	0.06	-14.2453	19.9574	0.97228	0.0:1.0:0.0:0.0	.	330;143;330;207;142	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	N	207;142;142;143;330;142;142;143;117	ENSP00000264674:D207N;ENSP00000376493:D142N;ENSP00000419770:D142N;ENSP00000420048:D143N;ENSP00000417899:D330N;ENSP00000419995:D142N;ENSP00000420466:D142N;ENSP00000394302:D143N;ENSP00000417506:D117N	ENSP00000264674:D207N	D	-	1	0	MECOM	170321682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.715000	0.92844	0.561000	0.74099	GAC	-	MECOM	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.498	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	0	0	0	15	15	121	0.00	0.00	C	NM_005241, NM_004991		168838988	-1	6	32	11	83	tier1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	35.29	27.83	SNP	1.000	T	6	11
CDK5RAP2	55755	genome.wustl.edu	37	9	123165309	123165309	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:123165309G>A	ENST00000349780.4	-	34	5261	c.5082C>T	c.(5080-5082)tcC>tcT	p.S1694S	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Silent_p.S1615S|CDK5RAP2_ENST00000359309.3_Silent_p.S1653S|CDK5RAP2_ENST00000360822.3_Silent_p.S1662S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1694					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CGCAGGAGAGGGAGTCCGTGT	0.547													ENSG00000136861																																					0													80.0	80.0	80.0					9																	123165309		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5082C>T	9.37:g.123165309G>A			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	pfam_Spindle_assoc	p.S1694	ENST00000349780.4	37	c.5082	CCDS6823.1	9																																																																																			-	CDK5RAP2	-	NULL		0.547	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	0	0	0	66	66	117	0.00	0.00	G	NM_018249		123165309	-1	29	48	17	18	tier1	no_errors	ENST00000349780	ensembl	human	known	74_37	silent	63.04	72.73	SNP	0.984	A	29	17
NCAPH	23397	genome.wustl.edu	37	2	97020049	97020049	+	Missense_Mutation	SNP	T	T	G	rs3731935	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97020049T>G	ENST00000240423.4	+	9	1174	c.1131T>G	c.(1129-1131)gaT>gaG	p.D377E	NCAPH_ENST00000455200.1_Missense_Mutation_p.D366E|NCAPH_ENST00000427946.1_Missense_Mutation_p.D241E	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	377					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D377D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ATGCCAACGATGAACCTGACC	0.532													ENSG00000121152																																					1	Substitution - coding silent(1)	stomach(1)											149.0	144.0	145.0					2																	97020049		2203	4300	6503	SO:0001583	missense	0			-	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.1131T>G	2.37:g.97020049T>G	ENSP00000240423:p.Asp377Glu		B4E189|Q8TB87	Missense_Mutation	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.D377E	ENST00000240423.4	37	c.1131	CCDS2021.1	2	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951831	0.53293	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.58	1.91	0.25777	.	0.068940	0.64402	D	0.000017	T	0.55130	0.1901	M	0.81497	2.545	0.32342	P	0.5596909999999999	P;P;P;D	0.64830	0.928;0.928;0.865;0.994	P;P;P;P	0.57776	0.565;0.565;0.716;0.827	T	0.63963	-0.6518	9	0.40728	T	0.16	-24.4858	8.2104	0.31479	0.0:0.2376:0.0:0.7624	.	353;366;366;377	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	E	377;241;366;366	ENSP00000240423:D377E;ENSP00000400774:D241E;ENSP00000405237:D366E;ENSP00000407308:D366E	ENSP00000240423:D377E	D	+	3	2	NCAPH	96383776	0.998000	0.40836	0.646000	0.29493	0.111000	0.19643	0.478000	0.22212	0.094000	0.17404	0.459000	0.35465	GAT	-	NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2		0.532	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	0	0	0	101	101	109	0.00	0.00	T	NM_015341		97020049	+1	12	10	72	86	tier1	no_errors	ENST00000240423	ensembl	human	known	74_37	missense	14.29	10.42	SNP	0.971	G	12	72
IGFN1	91156	genome.wustl.edu	37	1	201169436	201169436	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:201169436A>T	ENST00000295591.8	+	0	660				IGFN1_ENST00000451870.2_Missense_Mutation_p.K177M|IGFN1_ENST00000335211.4_Missense_Mutation_p.K177M			Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1							nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCAGACAGGAAGGACTACGAG	0.557													ENSG00000163395																																					0													136.0	140.0	139.0					1																	201169436		692	1591	2283			0			-	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000295591.8:c.-7991A>T	1.37:g.201169436A>T			F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K177M	ENST00000295591.8	37	c.530		1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977218	0.74360	.	.	ENSG00000163395	ENST00000335211;ENST00000451870	T;T	0.64618	0.3;-0.11	5.31	5.31	0.75309	.	.	.	.	.	T	0.75125	0.3807	M	0.77820	2.39	0.80722	D	1	.	.	.	.	.	.	T	0.78816	-0.2055	7	0.87932	D	0	.	12.7869	0.57512	1.0:0.0:0.0:0.0	.	.	.	.	M	177	ENSP00000334714:K177M;ENSP00000398386:K177M	ENSP00000334714:K177M	K	+	2	0	IGFN1	199436059	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	6.246000	0.72405	2.015000	0.59207	0.459000	0.35465	AAG	-	IGFN1	-	NULL		0.557	IGFN1-201	KNOWN	basic	protein_coding	IGFN1	HGNC	protein_coding		0	0	0	51	51	83	0.00	0.00	A	NM_178275		201169436	+1	4	15	37	47	tier1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	9.76	23.81	SNP	1.000	T	4	37
KIAA1551	55196	genome.wustl.edu	37	12	32134658	32134658	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:32134658C>T	ENST00000312561.4	+	4	1183	c.769C>T	c.(769-771)Cca>Tca	p.P257S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	257																	ATTAACTTTACCATCAAGGCA	0.393													ENSG00000174718																																					0													74.0	76.0	75.0					12																	32134658		2203	4300	6503	SO:0001583	missense	0			-	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.769C>T	12.37:g.32134658C>T	ENSP00000310338:p.Pro257Ser		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.P257S	ENST00000312561.4	37	c.769	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850329	0.17034	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05649	4.06;3.41	5.68	3.86	0.44501	.	1.076680	0.07244	N	0.864766	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	B	0.30281	0.275	B	0.30782	0.12	T	0.48222	-0.9054	9	.	.	.	.	7.5036	0.27532	0.1637:0.7523:0.0:0.084	.	257	Q9HCM1	CL035_HUMAN	S	257	ENSP00000310338:P257S;ENSP00000370442:P257S	.	P	+	1	0	C12orf35	32025925	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.978000	0.29488	0.746000	0.32786	-0.143000	0.13931	CCA	-	KIAA1551	-	NULL		0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	0	0	0	34	34	107	0.00	0.00	C	NM_018169		32134658	+1	10	14	28	77	tier1	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	26.32	15.38	SNP	0.001	T	10	28
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								ENSG00000138413																									Pancreas(158;264 1958 3300 35450 36047)			Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	0			-		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_DP,tigrfam_Isocitrate_DH_DP	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	rs121913499	IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_DP,tigrfam_Isocitrate_DH_DP		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	0	0	1	57	57	104	0.00	0.94	G			209113113	-1	33	27	24	63	tier1	no_errors	ENST00000345146	ensembl	human	known	74_37	missense	57.89	30.00	SNP	1.000	A	33	24
SSTR1	6751	genome.wustl.edu	37	14	38679638	38679638	+	Silent	SNP	G	G	A	rs370327349		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:38679638G>A	ENST00000267377.2	+	3	1661	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	348					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	ACGCCGCGGAGGAGCCGGTTG	0.577													ENSG00000139874																																					0								G		1,4405	2.1+/-5.4	0,1,2202	87.0	85.0	86.0		1044	3.9	1.0	14		86	0,8600		0,0,4300	no	coding-synonymous	SSTR1	NM_001049.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		348/392	38679638	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.1044G>A	14.37:g.38679638G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.E348	ENST00000267377.2	37	c.1044	CCDS9666.1	14																																																																																			-	SSTR1	-	prints_Somatstn_rcpt_1		0.577	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	HGNC	protein_coding	OTTHUMT00000409930.2	0	0	0	42	42	49	0.00	0.00	G			38679638	+1	14	13	46	21	tier1	no_errors	ENST00000267377	ensembl	human	known	74_37	silent	23.33	38.24	SNP	1.000	A	14	46
PRKAA2	5563	genome.wustl.edu	37	1	57169696	57169696	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57169696C>T	ENST00000371244.4	+	7	907	c.841C>T	c.(841-843)Cct>Tct	p.P281S		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	281					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TCCTGAAGACCCTTCCTATGA	0.358													ENSG00000162409																																					0													162.0	162.0	162.0					1																	57169696		2203	4300	6503	SO:0001583	missense	0			-	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.841C>T	1.37:g.57169696C>T	ENSP00000360290:p.Pro281Ser		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P281S	ENST00000371244.4	37	c.841	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817547	0.32145	.	.	ENSG00000162409	ENST00000371244	T	0.72505	-0.66	5.91	5.91	0.95273	Protein kinase-like domain (1);	0.046506	0.85682	D	0.000000	T	0.66528	0.2798	L	0.50333	1.59	0.80722	D	1	B	0.20887	0.049	B	0.17098	0.017	T	0.61412	-0.7068	10	0.12766	T	0.61	-14.3301	20.2963	0.98556	0.0:1.0:0.0:0.0	.	281	P54646	AAPK2_HUMAN	S	281	ENSP00000360290:P281S	ENSP00000360290:P281S	P	+	1	0	PRKAA2	56942284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.765000	0.68834	2.813000	0.96785	0.655000	0.94253	CCT	-	PRKAA2	-	superfamily_Kinase-like_dom		0.358	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	0	0	0	92	92	153	0.00	0.00	C	NM_006252		57169696	+1	43	72	50	58	tier1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	46.24	55.38	SNP	1.000	T	43	50
CHN1	1123	genome.wustl.edu	37	2	175666464	175666464	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:175666464G>A	ENST00000409900.3	-	12	1492	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Silent_p.T367T|CHN1_ENST00000409597.1_Silent_p.T209T|CHN1_ENST00000295497.7_Silent_p.T268T	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	393	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GGTACCGGAGGGTTTCGCAGT	0.418			T	TAF15	extraskeletal myxoid chondrosarcoma								ENSG00000128656																												Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													181.0	184.0	183.0					2																	175666464		1976	4168	6144	SO:0001819	synonymous_variant	0			-		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1179C>T	2.37:g.175666464G>A			A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.T393	ENST00000409900.3	37	c.1179	CCDS46455.1	2																																																																																			-	CHN1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom		0.418	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	0	0	0	77	77	129	0.00	0.00	G	NM_001822		175666464	-1	36	41	49	61	tier1	no_errors	ENST00000409900	ensembl	human	known	74_37	silent	42.35	40.20	SNP	0.810	A	36	49
HIST1H3B	8358	genome.wustl.edu	37	6	26031889	26031889	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:26031889C>T	ENST00000244661.2	-	1	399	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458													ENSG00000124693																																					0													58.0	61.0	60.0					6																	26031889		2203	4300	6503	SO:0001583	missense	0			-	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.400G>A	6.37:g.26031889C>T	ENSP00000244661:p.Glu134Lys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E134K	ENST00000244661.2	37	c.400	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	17.81	3.480811	0.63849	.	.	ENSG00000124693	ENST00000244661	T	0.47177	0.85	5.17	5.17	0.71159	.	.	.	.	.	T	0.60702	0.2289	.	.	.	0.44719	D	0.997715	.	.	.	.	.	.	T	0.65512	-0.6150	6	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	.	.	.	K	134	ENSP00000244661:E134K	ENSP00000244661:E134K	E	-	1	0	HIST1H3B	26139868	1.000000	0.71417	0.976000	0.42696	0.130000	0.20726	7.492000	0.81482	2.545000	0.85829	0.561000	0.74099	GAA	-	HIST1H3B	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.458	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	0	0	0	54	54	65	0.00	0.00	C	NM_003537		26031889	-1	11	6	42	46	tier1	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	20.75	11.54	SNP	1.000	T	11	42
ZDHHC16	84287	genome.wustl.edu	37	10	99216758	99216758	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99216758C>T	ENST00000370854.3	+	0	1433				ZDHHC16_ENST00000352634.4_3'UTR|ZDHHC16_ENST00000370846.4_3'UTR|ZDHHC16_ENST00000393760.1_3'UTR|ZDHHC16_ENST00000353979.3_3'UTR|ZDHHC16_ENST00000370842.2_3'UTR|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_3'UTR	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16						apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AGCCAGTGGGCCTGCCTTAGG	0.478													ENSG00000171307																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.*110C>T	10.37:g.99216758C>T			D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	R	SNP	-	NULL	ENST00000370854.3	37	NULL	CCDS7460.1	10																																																																																			-	ZDHHC16	-	-		0.478	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2	0	0	1	99	99	119	0.00	0.83	C	NM_032327		99216758	+1	37	43	25	34	tier1	no_errors	ENST00000487315	ensembl	human	known	74_37	rna	59.68	55.84	SNP	0.983	T	37	25
CCDC150	284992	genome.wustl.edu	37	2	197577001	197577001	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:197577001G>A	ENST00000389175.4	+	16	1938				CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000409270.1_5'Flank	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TACAAAAGCGGATTGCTGCTA	0.348													ENSG00000144395																																					0													40.0	36.0	37.0					2																	197577001		1827	4071	5898	SO:0001627	intron_variant	0			-		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1803+25G>A	2.37:g.197577001G>A			Q6P5U6|Q6P663|Q8N8V5	R	SNP	-	NULL	ENST00000389175.4	37	NULL	CCDS46478.1	2																																																																																			-	CCDC150	-	-		0.348	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	0	0	0	139	139	106	0.00	0.00	G	NM_001080539		197577001	+1	47	20	59	64	tier1	no_errors	ENST00000460114	ensembl	human	putative	74_37	rna	44.34	23.81	SNP	0.000	A	47	59
PADI3	51702	genome.wustl.edu	37	1	17593270	17593270	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:17593270C>T	ENST00000375460.3	+	5	505	c.465C>T	c.(463-465)gaC>gaT	p.D155D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	155					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGAACTGTGACCGTGATGATC	0.597													ENSG00000142619																																					0													202.0	158.0	173.0					1																	17593270		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.465C>T	1.37:g.17593270C>T			Q58EY7|Q70SX5	Silent	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.D155	ENST00000375460.3	37	c.465	CCDS179.1	1																																																																																			-	PADI3	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	0	0	0	59	59	95	0.00	0.00	C			17593270	+1	38	27	38	36	tier1	no_errors	ENST00000375460	ensembl	human	known	74_37	silent	50.00	42.86	SNP	0.999	T	38	38
DAW1	164781	genome.wustl.edu	37	2	228786181	228786181	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:228786181G>A	ENST00000309931.2	+	12	1200	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.D358N	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	373						cilium (GO:0005929)											TAGAATCTGGGATGCTCAGAC	0.433													ENSG00000123977																																					0													87.0	87.0	87.0					2																	228786181		2203	4300	6503	SO:0001583	missense	0			-		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1117G>A	2.37:g.228786181G>A	ENSP00000311899:p.Asp373Asn		Q6ZRY1|Q8N776	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D373N	ENST00000309931.2	37	c.1117	CCDS2470.1	2	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805216	0.31961	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.68025	-0.3;-0.3	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.275725	0.40385	N	0.001109	T	0.67287	0.2877	M	0.65498	2.005	0.44976	D	0.997996	B	0.18461	0.028	B	0.33799	0.17	T	0.63537	-0.6615	10	0.33940	T	0.23	.	11.633	0.51187	0.0805:0.0:0.9195:0.0	.	373	Q8N136	WDR69_HUMAN	N	373;358	ENSP00000311899:D373N;ENSP00000437887:D358N	ENSP00000311899:D373N	D	+	1	0	WDR69	228494425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.873000	0.63057	2.532000	0.85374	0.650000	0.86243	GAT	-	DAW1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.433	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAW1	HGNC	protein_coding	OTTHUMT00000331745.1	0	0	0	87	87	84	0.00	0.00	G	NM_178821		228786181	+1	16	16	63	65	tier1	no_errors	ENST00000309931	ensembl	human	known	74_37	missense	20.25	19.75	SNP	1.000	A	16	63
SRD5A3	79644	genome.wustl.edu	37	4	56230200	56230200	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:56230200C>T	ENST00000264228.4	+	3	592				SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3						androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	TGGATTAATCCCAGAAGAGAA	0.403													ENSG00000249700																																					0													133.0	132.0	132.0					4																	56230200		2203	4300	6503	SO:0001627	intron_variant	0			-	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.365-41C>T	4.37:g.56230200C>T			Q4W5Q6	R	SNP	-	NULL	ENST00000264228.4	37	NULL	CCDS3498.1	4																																																																																			-	SRD5A3-AS1	-	-		0.403	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A3-AS1	HGNC	protein_coding	OTTHUMT00000250644.2	0	0	0	84	84	101	0.00	0.00	C	NM_024592		56230200	-1	39	42	76	68	tier1	no_errors	ENST00000433175	ensembl	human	known	74_37	rna	33.91	38.18	SNP	0.001	T	39	76
BIN2	51411	genome.wustl.edu	37	12	51685941	51685941	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:51685941C>T	ENST00000267012.4	-	10	1010	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	BIN2_ENST00000544402.1_Missense_Mutation_p.E291K|BIN2_ENST00000604560.1_Missense_Mutation_p.E290K|BIN2_ENST00000452142.2_Missense_Mutation_p.E285K	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	317					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TCCTCCTCTTCTAAGAGCTCC	0.527													ENSG00000110934																																					0													68.0	65.0	66.0					12																	51685941		2203	4300	6503	SO:0001583	missense	0			-	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.949G>A	12.37:g.51685941C>T	ENSP00000267012:p.Glu317Lys		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.E317K	ENST00000267012.4	37	c.949	CCDS8811.1	12	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.176914	0.01646	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96716	-4.1;0.04;0.04	4.68	1.12	0.20585	.	1.521620	0.03887	N	0.278109	D	0.86834	0.6028	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.80714	-0.1259	10	0.22706	T	0.39	-1.2572	2.9582	0.05883	0.0:0.2689:0.2358:0.4953	.	291;285;317	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	K	285;317;291	ENSP00000410217:E285K;ENSP00000267012:E317K;ENSP00000445874:E291K	ENSP00000267012:E317K	E	-	1	0	BIN2	49972208	0.035000	0.19736	0.127000	0.21898	0.408000	0.30992	0.338000	0.19858	0.400000	0.25396	0.655000	0.94253	GAA	-	BIN2	-	NULL		0.527	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	0	0	0	36	36	73	0.00	0.00	C			51685941	-1	7	23	22	34	tier1	no_errors	ENST00000267012	ensembl	human	known	74_37	missense	24.14	40.35	SNP	0.281	T	7	22
ABCB5	340273	genome.wustl.edu	37	7	20668438	20668438	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:20668438G>A	ENST00000404938.2	+	4	888	c.236G>A	c.(235-237)gGa>gAa	p.G79E		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	79	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTATTAGTGGATGTCTAGTC	0.383													ENSG00000004846																																					0													135.0	116.0	122.0					7																	20668438		1568	3582	5150	SO:0001583	missense	0			-	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.236G>A	7.37:g.20668438G>A	ENSP00000384881:p.Gly79Glu		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G79E	ENST00000404938.2	37	c.236	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796785	0.16327	.	.	ENSG00000004846	ENST00000404938	D	0.86769	-2.17	4.29	2.29	0.28610	.	.	.	.	.	T	0.72095	0.3418	N	0.14661	0.345	0.39835	D	0.97302	B	0.16603	0.018	B	0.16722	0.016	T	0.63642	-0.6591	9	0.28530	T	0.3	.	4.5438	0.12071	0.1143:0.0:0.6678:0.2178	.	79	A7BKA4	.	E	79	ENSP00000384881:G79E	ENSP00000384881:G79E	G	+	2	0	ABCB5	20634963	0.924000	0.31332	0.940000	0.37924	0.948000	0.59901	0.271000	0.18626	1.121000	0.41925	0.460000	0.39030	GGA	-	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.383	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	0	0	0	132	132	118	0.00	0.00	G	NM_178559		20668438	+1	63	65	62	77	tier1	no_errors	ENST00000404938	ensembl	human	putative	74_37	missense	50.40	45.14	SNP	0.687	A	63	62
DCHS2	54798	genome.wustl.edu	37	4	155241759	155241759	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:155241759C>T	ENST00000357232.4	-	14	3426	c.3427G>A	c.(3427-3429)Gac>Aac	p.D1143N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1143	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGTCGCCGGTCTGTCACATTC	0.458													ENSG00000197410																																					0													205.0	203.0	204.0					4																	155241759		2203	4300	6503	SO:0001583	missense	0			-	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3427G>A	4.37:g.155241759C>T	ENSP00000349768:p.Asp1143Asn		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D1143N	ENST00000357232.4	37	c.3427	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892211	0.72524	.	.	ENSG00000197410	ENST00000357232	T	0.56103	0.48	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.166103	0.41001	D	0.000970	T	0.67230	0.2871	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.67047	-0.5769	10	0.52906	T	0.07	.	15.1224	0.72453	0.0:0.859:0.141:0.0	.	1143	Q6V1P9	PCD23_HUMAN	N	1143	ENSP00000349768:D1143N	ENSP00000349768:D1143N	D	-	1	0	DCHS2	155461209	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.431000	0.59915	2.636000	0.89361	0.563000	0.77884	GAC	-	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	0	0	0	53	53	47	0.00	0.00	C	NM_001142552		155241759	-1	20	15	22	11	tier1	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	47.62	57.69	SNP	1.000	T	20	22
MAGEC1	9947	genome.wustl.edu	37	X	140996004	140996004	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140996004C>T	ENST00000285879.4	+	4	3100	c.2814C>T	c.(2812-2814)gtC>gtT	p.V938V	MAGEC1_ENST00000406005.2_Silent_p.V5V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	938	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGAATGTCATCAGCAGGT	0.473										HNSCC(15;0.026)			ENSG00000155495																																					0													158.0	146.0	150.0					X																	140996004		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2814C>T	X.37:g.140996004C>T			A0PK03|O75451|Q8TCV4	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V938	ENST00000285879.4	37	c.2814	CCDS35417.1	X																																																																																			-	MAGEC1	-	pfam_MAGE,pfscan_MAGE		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	0	0	0	37	37	25	0.00	0.00	C	NM_005462		140996004	+1	30	11	11	13	tier1	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	73.17	45.83	SNP	0.005	T	30	11
EYS	346007	genome.wustl.edu	37	6	66053984	66053984	+	Missense_Mutation	SNP	C	C	T	rs577044383		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:66053984C>T	ENST00000370621.3	-	10	2072	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	EYS_ENST00000393380.2_Missense_Mutation_p.D516N|EYS_ENST00000370616.2_Missense_Mutation_p.D516N|EYS_ENST00000503581.1_Missense_Mutation_p.D516N|EYS_ENST00000370618.3_Missense_Mutation_p.D516N|EYS_ENST00000342421.5_Missense_Mutation_p.D516N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	516					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTCAGGATCGTTCACATAG	0.373													ENSG00000188107	C|||	1	0.000199681	0.0	0.0	5008	,	,		14884	0.0		0.0	False		,,,				2504	0.001																0													97.0	97.0	97.0					6																	66053984		2203	4300	6503	SO:0001583	missense	0			-		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1546G>A	6.37:g.66053984C>T	ENSP00000359655:p.Asp516Asn		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D516N	ENST00000370621.3	37	c.1546		6	.	.	.	.	.	.	.	.	.	.	c	2.962	-0.214452	0.06101	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	3.85	1.42	0.22433	.	.	.	.	.	T	0.40595	0.1123	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21999	-1.0229	9	0.15499	T	0.54	.	3.984	0.09507	0.0:0.1249:0.2398:0.6353	.	516;516;516	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	N	516	ENSP00000424243:D516N;ENSP00000359655:D516N;ENSP00000359650:D516N;ENSP00000377042:D516N;ENSP00000341818:D516N;ENSP00000359652:D516N	ENSP00000341818:D516N	D	-	1	0	EYS	66110705	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.241000	0.18065	0.003000	0.14656	-0.312000	0.09012	GAT	-	EYS	-	NULL		0.373	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	0	0	0	73	73	96	0.00	0.00	C	XM_294050		66053984	-1	32	28	53	47	tier1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	37.65	37.33	SNP	0.000	T	32	53
GRM3	2913	genome.wustl.edu	37	7	86394606	86394606	+	Missense_Mutation	SNP	G	G	A	rs267601603		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:86394606G>A	ENST00000361669.2	+	2	1244	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E49K|GRM3_ENST00000394720.2_Missense_Mutation_p.E47K|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	49					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.E49K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCCTATTAACGAAAAAGGCAC	0.408													ENSG00000198822																									GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	large_intestine(1)											114.0	115.0	114.0					7																	86394606		2203	4300	6503	SO:0001583	missense	0			-		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.145G>A	7.37:g.86394606G>A	ENSP00000355316:p.Glu49Lys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.E49K	ENST00000361669.2	37	c.145	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900098	0.72754	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	L	0.58583	1.82	0.80722	D	1	D;P	0.53312	0.959;0.828	B;B	0.36378	0.223;0.219	T	0.75706	-0.3224	10	0.26408	T	0.33	.	17.9854	0.89154	0.0:0.0:1.0:0.0	.	49;49	G5E9K2;Q14832	.;GRM3_HUMAN	K	49;49;47;49;49	ENSP00000355316:E49K;ENSP00000398767:E49K;ENSP00000378209:E47K;ENSP00000390037:E49K;ENSP00000407490:E49K	ENSP00000355316:E49K	E	+	1	0	GRM3	86232542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.692000	0.84203	2.732000	0.93576	0.655000	0.94253	GAA	-	GRM3	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_3		0.408	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	0	0	0	55	55	132	0.00	0.00	G			86394606	+1	10	23	32	66	tier1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	23.81	25.84	SNP	1.000	A	10	32
THSD7B	80731	genome.wustl.edu	37	2	137814297	137814297	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:137814297G>A	ENST00000409968.1	+	3	625	c.447G>A	c.(445-447)ctG>ctA	p.L149L	THSD7B_ENST00000413152.2_Silent_p.L118L|THSD7B_ENST00000272643.3_Silent_p.L149L|THSD7B_ENST00000543459.1_Silent_p.L8L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	149	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCAGAAGCTGAACCGAACTG	0.532													ENSG00000144229																																					0													103.0	106.0	105.0					2																	137814297		2027	4194	6221	SO:0001819	synonymous_variant	0			-			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.447G>A	2.37:g.137814297G>A				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L149	ENST00000409968.1	37	c.447		2																																																																																			-	THSD7B	-	superfamily_Thrombospondin_1_rpt		0.532	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	0	0	0	58	58	79	0.00	0.00	G	XM_046570.9		137814297	+1	7	12	24	59	tier1	no_errors	ENST00000272643	ensembl	human	known	74_37	silent	22.58	16.90	SNP	0.994	A	7	24
NME7	29922	genome.wustl.edu	37	1	169272385	169272385	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:169272385G>A	ENST00000367811.3	-	5	694	c.438C>T	c.(436-438)ttC>ttT	p.F146F	NME7_ENST00000472647.1_Silent_p.F110F|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	146					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGACCTACTTGAAAAAGGGTC	0.294													ENSG00000143156																																					0													58.0	57.0	57.0					1																	169272385		2203	4294	6497	SO:0001819	synonymous_variant	0			-	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.438C>T	1.37:g.169272385G>A			A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.F146	ENST00000367811.3	37	c.438	CCDS1277.1	1																																																																																			-	NME7	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase		0.294	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1	0	0	0	222	222	101	0.00	0.00	G	NM_013330		169272385	-1	39	29	171	87	tier1	no_errors	ENST00000367811	ensembl	human	known	74_37	silent	18.48	24.79	SNP	0.901	A	39	171
LIMCH1	22998	genome.wustl.edu	37	4	41621210	41621210	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:41621210G>A	ENST00000313860.7	+	8	742	c.688G>A	c.(688-690)Gga>Aga	p.G230R	LIMCH1_ENST00000509638.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G76R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000509454.1_Missense_Mutation_p.G78R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G76R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G71R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G76R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G230R|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G83R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	230					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCTAGGGAGAGGAAGCGACTC	0.512													ENSG00000064042																																					0													252.0	262.0	258.0					4																	41621210		2203	4300	6503	SO:0001583	missense	0			-	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.688G>A	4.37:g.41621210G>A	ENSP00000316891:p.Gly230Arg		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G71R	ENST00000313860.7	37	c.211	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662252	0.67700	.	.	ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.50548	0.75;1.36;1.36;1.36;0.79;1.3;0.76;0.78;0.75;0.74;0.78;0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.991;1.0;0.999;0.999;1.0;1.0;0.999;1.0;1.0;1.0;0.999	T	0.66995	-0.5782	10	0.56958	D	0.05	-25.5635	19.8155	0.96566	0.0:0.0:1.0:0.0	.	76;230;76;76;78;71;71;230;230;230;230	E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	R	71;71;230;230;230;230;230;71;71;71;70;83;76;78;76;76	ENSP00000425222:G71R;ENSP00000424825:G230R;ENSP00000424645:G230R;ENSP00000316891:G230R;ENSP00000427045:G230R;ENSP00000424437:G230R;ENSP00000425631:G71R;ENSP00000421242:G71R;ENSP00000426334:G83R;ENSP00000422864:G76R;ENSP00000379840:G76R;ENSP00000371172:G76R	ENSP00000316891:G230R	G	+	1	0	LIMCH1	41315967	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	9.476000	0.97823	2.691000	0.91804	0.563000	0.77884	GGA	-	LIMCH1	-	NULL		0.512	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	0	0	0	33	33	132	0.00	0.00	G	NM_014988		41621210	+1	21	39	10	36	tier1	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	67.74	52.00	SNP	1.000	A	21	10
CERS3	204219	genome.wustl.edu	37	15	101088136	101088136	+	5'Flank	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:101088136C>T	ENST00000560944.1	-	0	0				RP11-526I2.5_ENST00000602585.1_lincRNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3						ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTTTTTTTTTCTTAAAAGATA	0.348													ENSG00000270127																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568		15.37:g.101088136C>T	Exception_encountered		Q8NE64|Q8NEN6	R	SNP	-	NULL	ENST00000560944.1	37	NULL		15																																																																																			-	RP11-526I2.5	-	-		0.348	CERS3-009	KNOWN	basic	processed_transcript	PRKXP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000417720.1	0	0	1	34	34	82	0.00	1.20	C	NM_178842		101088136	-1	11	10	25	61	tier1	no_errors	ENST00000602585	ensembl	human	known	74_37	rna	30.56	14.08	SNP	0.149	T	11	25
EYS	346007	genome.wustl.edu	37	6	65327356	65327356	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:65327356C>T	ENST00000370621.3	-	24	4165	c.3639G>A	c.(3637-3639)atG>atA	p.M1213I	EYS_ENST00000370616.2_Missense_Mutation_p.M1213I|EYS_ENST00000503581.1_Missense_Mutation_p.M1213I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1213					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTCATTCTCCATGCAGAGTT	0.398													ENSG00000188107																																					0													107.0	85.0	91.0					6																	65327356		692	1591	2283	SO:0001583	missense	0			-		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3639G>A	6.37:g.65327356C>T	ENSP00000359655:p.Met1213Ile		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.M1213I	ENST00000370621.3	37	c.3639		6	.	.	.	.	.	.	.	.	.	.	C	9.920	1.211948	0.22289	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.81247	-1.47;-1.47;-1.47	4.71	-2.61	0.06171	.	.	.	.	.	T	0.31451	0.0797	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19745	-1.0296	9	0.09084	T	0.74	.	3.0971	0.06313	0.3439:0.3509:0.0:0.3052	.	1213;1213	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	I	1213	ENSP00000424243:M1213I;ENSP00000359655:M1213I;ENSP00000359650:M1213I	ENSP00000359650:M1213I	M	-	3	0	EYS	65384077	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.198000	0.09505	-0.175000	0.10725	0.591000	0.81541	ATG	-	EYS	-	smart_EG-like_dom		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	0	0	0	68	68	159	0.00	0.00	C	XM_294050		65327356	-1	27	50	28	73	tier1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	49.09	40.65	SNP	0.000	T	27	28
SERPINA3	12	genome.wustl.edu	37	14	95088710	95088710	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:95088710C>T	ENST00000467132.1	+	4	2098	c.950C>T	c.(949-951)tCc>tTc	p.S317F	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S317F|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S99F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S317F			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	317					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCAAAGTTTTCCATCTCGAGG	0.507													ENSG00000196136																																					0													139.0	127.0	131.0					14																	95088710		2203	4300	6503	SO:0001583	missense	0			-	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.950C>T	14.37:g.95088710C>T	ENSP00000450540:p.Ser317Phe		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S317F	ENST00000467132.1	37	c.950	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032667	0.35893	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000467132;ENST00000482740	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.6	2.7	0.31948	Serpin domain (3);	0.100159	0.43747	D	0.000532	D	0.92463	0.7607	H	0.94264	3.515	0.40030	D	0.975514	D;D	0.65815	0.995;0.983	P;P	0.60286	0.872;0.652	D	0.92464	0.5980	10	0.87932	D	0	.	9.8863	0.41264	0.1575:0.6908:0.1518:0.0	.	317;342	P01011;G3V5I3	AACT_HUMAN;.	F	342;317;317;317;99	ENSP00000452367:S342F;ENSP00000376793:S317F;ENSP00000376795:S317F;ENSP00000450540:S317F;ENSP00000451119:S99F	ENSP00000376793:S317F	S	+	2	0	SERPINA3	94158463	0.594000	0.26849	0.996000	0.52242	0.059000	0.15707	2.101000	0.41787	0.505000	0.28104	0.462000	0.41574	TCC	-	SERPI3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPI3	HGNC	protein_coding	OTTHUMT00000268080.3	0	0	0	89	89	132	0.00	0.00	C	NM_001085		95088710	+1	31	45	39	67	tier1	no_errors	ENST00000393078	ensembl	human	known	74_37	missense	44.29	40.18	SNP	1.000	T	31	39
KIF1A	547	genome.wustl.edu	37	2	241728728	241728728	+	Splice_Site	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241728728G>T	ENST00000320389.7	-	3	266	c.108C>A	c.(106-108)acC>acA	p.T36T	KIF1A_ENST00000498729.2_Splice_Site_p.T36T	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	36	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTTAACAATGGCTGTGGGAG	0.597													ENSG00000130294																																					0													71.0	84.0	80.0					2																	241728728		2180	4291	6471	SO:0001630	splice_region_variant	0			-	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.107-1C>A	2.37:g.241728728G>T			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T36	ENST00000320389.7	37	c.108	CCDS46561.1	2																																																																																			-	KIF1A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	0	0	0	127	127	161	0.00	0.00	G	NM_138483	Silent	241728728	-1	29	48	57	72	tier1	no_errors	ENST00000498729	ensembl	human	known	74_37	silent	33.72	39.67	SNP	0.960	T	29	57
TACC2	10579	genome.wustl.edu	37	10	123848097	123848097	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:123848097G>A	ENST00000369005.1	+	5	5904	c.5564G>A	c.(5563-5565)gGa>gAa	p.G1855E	TACC2_ENST00000515273.1_Missense_Mutation_p.G1855E|TACC2_ENST00000515603.1_Missense_Mutation_p.G1855E|TACC2_ENST00000453444.2_Missense_Mutation_p.G1855E|TACC2_ENST00000334433.3_Missense_Mutation_p.G1855E|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1855					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGTGCGGAAGGAACAGAAAGG	0.478													ENSG00000138162																																					0													74.0	64.0	68.0					10																	123848097		2203	4300	6503	SO:0001583	missense	0			-	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5564G>A	10.37:g.123848097G>A	ENSP00000358001:p.Gly1855Glu		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.G1855E	ENST00000369005.1	37	c.5564	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376006	0.42105	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.42513	0.97;3.73;4.14;0.97;3.73	5.26	1.32	0.21799	.	.	.	.	.	T	0.26593	0.0650	L	0.27053	0.805	0.09310	N	1	B;B;B	0.27997	0.197;0.197;0.054	B;B;B	0.21708	0.036;0.036;0.036	T	0.14309	-1.0477	9	0.40728	T	0.16	-0.106	7.5184	0.27614	0.3546:0.0:0.6454:0.0	.	1855;1855;1855	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	E	1855;1855;1855;1855;1855;1845	ENSP00000358001:G1855E;ENSP00000424467:G1855E;ENSP00000427618:G1855E;ENSP00000334280:G1855E;ENSP00000395048:G1855E	ENSP00000334280:G1855E	G	+	2	0	TACC2	123838087	0.002000	0.14202	0.014000	0.15608	0.458000	0.32498	0.284000	0.18864	0.046000	0.15833	-0.152000	0.13540	GGA	-	TACC2	-	NULL		0.478	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	0	0	1	89	89	123	0.00	0.81	G			123848097	+1	51	46	36	28	tier1	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	58.62	61.33	SNP	0.001	A	51	36
GPC6	10082	genome.wustl.edu	37	13	95055375	95055375	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:95055375G>A	ENST00000377047.4	+	9	2187	c.1572G>A	c.(1570-1572)cgG>cgA	p.R524R		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	524					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				ATCCCGACCGGAGAGAGGTGG	0.592													ENSG00000183098																																					0													88.0	88.0	88.0					13																	95055375		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1572G>A	13.37:g.95055375G>A			A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	pfam_Glypican	p.R524	ENST00000377047.4	37	c.1572	CCDS9469.1	13																																																																																			-	GPC6	-	pfam_Glypican		0.592	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	0	0	0	38	38	71	0.00	0.00	G	NM_005708		95055375	+1	7	15	19	46	tier1	no_errors	ENST00000377047	ensembl	human	known	74_37	silent	26.92	24.19	SNP	0.999	A	7	19
XIRP2	129446	genome.wustl.edu	37	2	168105327	168105327	+	Silent	SNP	G	G	A	rs575664263		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:168105327G>A	ENST00000409195.1	+	9	7514	c.7425G>A	c.(7423-7425)acG>acA	p.T2475T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T2475T|XIRP2_ENST00000409273.1_Silent_p.T2253T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGAACACACGGAGACAAAGC	0.398													ENSG00000163092																																					0													80.0	78.0	78.0					2																	168105327		1922	4136	6058	SO:0001819	synonymous_variant	0			-	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7425G>A	2.37:g.168105327G>A			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.T2475	ENST00000409195.1	37	c.7425	CCDS42769.1	2																																																																																			-	XIRP2	-	NULL		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	0	0	0	76	76	141	0.00	0.00	G	NM_152381		168105327	+1	27	37	41	65	tier1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	39.71	35.92	SNP	0.001	A	27	41
MSI2	124540	genome.wustl.edu	37	17	55704589	55704589	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:55704589G>A	ENST00000284073.2	+	10	861		c.e10-1		MSI2_ENST00000579505.1_Splice_Site|MSI2_ENST00000416426.2_Splice_Site|MSI2_ENST00000442934.2_Splice_Site|MSI2_ENST00000579180.1_Splice_Site|MSI2_ENST00000322684.3_Splice_Site	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2							cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TTGTGTTCAAGGATATCCCAA	0.527			T	HOXA9	CML								ENSG00000153944																												Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0													184.0	164.0	171.0					17																	55704589		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.653-1G>A	17.37:g.55704589G>A			Q7Z6M7|Q8N9T4	Splice_Site	SNP	-	e10-1	ENST00000284073.2	37	c.653-1	CCDS11596.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270275	0.80469	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7555	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSI2	53059588	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.229000	0.89791	2.660000	0.90430	0.650000	0.86243	.	-	MSI2	-	-		0.527	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI2	HGNC	protein_coding	OTTHUMT00000441813.1	0	0	0	73	73	136	0.00	0.00	G		Intron	55704589	+1	31	51	10	34	tier1	no_errors	ENST00000284073	ensembl	human	known	74_37	splice_site	75.61	60.00	SNP	1.000	A	31	10
TRPM5	29850	genome.wustl.edu	37	11	2432960	2432960	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2432960G>A	ENST00000155858.6	-	17	2520	c.2512C>T	c.(2512-2514)Ctc>Ttc	p.L838F	TRPM5_ENST00000452833.1_Missense_Mutation_p.L840F|TRPM5_ENST00000528453.1_Missense_Mutation_p.L838F|TRPM5_ENST00000533060.1_Missense_Mutation_p.L838F	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCATGGCGAGGACTGTGCGG	0.632													ENSG00000070985																									NSCLC(1;49 61 17205 18850 43201)												0													61.0	59.0	60.0					11																	2432960		2202	4299	6501	SO:0001583	missense	0			-	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2512C>T	11.37:g.2432960G>A	ENSP00000155858:p.Leu838Phe			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.L840F	ENST00000155858.6	37	c.2518	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254356	0.59212	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.28	4.28	0.50868	Ion transport (1);	0.000000	0.64402	D	0.000002	T	0.79003	0.4373	L	0.45228	1.405	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.81914	0.995;0.995;0.919	T	0.81731	-0.0799	10	0.72032	D	0.01	-24.0053	16.0594	0.80830	0.0:0.0:1.0:0.0	.	838;840;838	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	F	832;838;840;838;838;838	ENSP00000434383:L832F;ENSP00000155858:L838F;ENSP00000387965:L840F;ENSP00000434121:L838F;ENSP00000436809:L838F	ENSP00000155858:L838F	L	-	1	0	TRPM5	2389536	1.000000	0.71417	0.376000	0.26042	0.682000	0.39822	3.404000	0.52623	2.120000	0.65058	0.491000	0.48974	CTC	-	TRPM5	-	NULL		0.632	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	0	0	0	55	55	27	0.00	0.00	G	NM_014555		2432960	-1	21	9	18	12	tier1	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	53.85	42.86	SNP	0.999	A	21	18
IL22RA1	58985	genome.wustl.edu	37	1	24447539	24447539	+	Missense_Mutation	SNP	C	C	T	rs137928018		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:24447539C>T	ENST00000270800.1	-	7	1519	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	494					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGGGAGCTGGCCCTTTAGGTA	0.582													ENSG00000142677	C|||	1	0.000199681	0.0008	0.0	5008	,	,		19740	0.0		0.0	False		,,,				2504	0.0																0													141.0	119.0	126.0					1																	24447539		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1481G>A	1.37:g.24447539C>T	ENSP00000270800:p.Gly494Asp		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G494D	ENST00000270800.1	37	c.1481	CCDS247.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.91	1.483675	0.26598	.	.	ENSG00000142677	ENST00000270800	T	0.08546	3.08	5.69	1.15	0.20763	.	1.511770	0.03843	N	0.271063	T	0.08088	0.0202	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.39502	-0.9611	10	0.66056	D	0.02	-3.6111	8.3511	0.32303	0.0:0.6267:0.0:0.3733	.	426;494	B4E2V9;Q8N6P7	.;I22R1_HUMAN	D	494	ENSP00000270800:G494D	ENSP00000270800:G494D	G	-	2	0	IL22RA1	24320126	0.000000	0.05858	0.002000	0.10522	0.795000	0.44927	-0.009000	0.12765	0.347000	0.23924	0.650000	0.86243	GGC	rs137928018	IL22RA1	-	NULL		0.582	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	0	0	0	57	57	111	0.00	0.00	C			24447539	-1	8	19	44	92	tier1	no_errors	ENST00000270800	ensembl	human	novel	74_37	missense	15.09	17.12	SNP	0.000	T	8	44
CYP2C19	1557	genome.wustl.edu	37	10	96541613	96541613	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:96541613C>T	ENST00000371321.3	+	5	760	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	226					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGATTATTTCCCGGGAACCC	0.289													ENSG00000165841																																					0													48.0	53.0	51.0					10																	96541613		2203	4299	6502	SO:0001819	synonymous_variant	0			-	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.678C>T	10.37:g.96541613C>T			P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F226	ENST00000371321.3	37	c.678	CCDS7436.1	10																																																																																			-	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.289	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	0	0	0	241	241	61	0.00	0.00	C	NM_000769		96541613	+1	116	23	61	25	tier1	no_errors	ENST00000371321	ensembl	human	known	74_37	silent	65.17	47.92	SNP	0.011	T	116	61
LAMA4	3910	genome.wustl.edu	37	6	112462089	112462089	+	Missense_Mutation	SNP	G	G	A	rs387907365		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:112462089G>A	ENST00000230538.7	-	22	3246	c.2849C>T	c.(2848-2850)cCg>cTg	p.P950L	LAMA4_ENST00000522006.1_Missense_Mutation_p.P943L|LAMA4_ENST00000389463.4_Missense_Mutation_p.P943L|LAMA4_ENST00000424408.2_Missense_Mutation_p.P943L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	950	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.		P -> L (in CMD1JJ; loss of integrin- binding capacity). {ECO:0000269|PubMed:17646580}.		blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTTAGACTCGGGACTGTTAA	0.363													ENSG00000112769																																					0			GRCh37	CM073173	LAMA4	M							110.0	109.0	109.0					6																	112462089		2203	4300	6503	SO:0001583	missense	0			-		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2849C>T	6.37:g.112462089G>A	ENSP00000230538:p.Pro950Leu		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.P950L	ENST00000230538.7	37	c.2849	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650148	0.87958	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.81	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.047990	0.85682	D	0.000000	T	0.74801	0.3764	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.67231	0.95;0.917	T	0.76449	-0.2955	10	0.05833	T	0.94	.	16.0686	0.80907	0.0:0.1341:0.8659:0.0	.	950;943	Q16363;Q16363-2	LAMA4_HUMAN;.	L	950;943;943;943	ENSP00000230538:P950L;ENSP00000429488:P943L;ENSP00000374114:P943L;ENSP00000416470:P943L	ENSP00000230538:P950L	P	-	2	0	LAMA4	112568782	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.355000	0.79434	1.452000	0.47756	0.650000	0.86243	CCG	-	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	0	0	0	91	91	133	0.00	0.00	G	NM_001105206		112462089	-1	20	16	47	92	tier1	no_errors	ENST00000230538	ensembl	human	known	74_37	missense	29.85	14.81	SNP	1.000	A	20	47
PAPPA2	60676	genome.wustl.edu	37	1	176668379	176668379	+	Missense_Mutation	SNP	G	G	A	rs201513629		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:176668379G>A	ENST00000367662.3	+	8	4054	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	964					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D964N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCCAAGCCGACACCCTCAC	0.577													ENSG00000116183																																					1	Substitution - Missense(1)	prostate(1)											138.0	140.0	139.0					1																	176668379		2045	4189	6234	SO:0001583	missense	0			-	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2890G>A	1.37:g.176668379G>A	ENSP00000356634:p.Asp964Asn		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D964N	ENST00000367662.3	37	c.2890	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955353	0.73902	.	.	ENSG00000116183	ENST00000367662	T	0.01647	4.71	5.05	4.14	0.48551	Fibronectin, type III (2);	0.268541	0.42548	N	0.000695	T	0.04724	0.0128	M	0.64997	1.995	0.80722	D	1	D	0.65815	0.995	P	0.52793	0.709	T	0.31251	-0.9950	10	0.72032	D	0.01	-21.7285	8.7463	0.34589	0.0799:0.1516:0.7685:0.0	.	964	Q9BXP8	PAPP2_HUMAN	N	964	ENSP00000356634:D964N	ENSP00000356634:D964N	D	+	1	0	PAPPA2	174935002	0.997000	0.39634	0.747000	0.31113	0.779000	0.44077	2.669000	0.46825	1.342000	0.45619	0.655000	0.94253	GAC	rs201513629	PAPPA2	-	superfamily_Fibronectin_type3		0.577	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	0	0	0	38	38	60	0.00	0.00	G			176668379	+1	19	25	26	34	tier1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	42.22	42.37	SNP	0.912	A	19	26
CATSPERB	79820	genome.wustl.edu	37	14	92058305	92058305	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:92058305C>T	ENST00000256343.3	-	23	2907	c.2751G>A	c.(2749-2751)cgG>cgA	p.R917R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	917					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACACTCCTCCCGAGTGGAAA	0.403													ENSG00000133962																																					0													154.0	152.0	153.0					14																	92058305		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2751G>A	14.37:g.92058305C>T			A0AV51	Silent	SNP	superfamily_Sialidases	p.R917	ENST00000256343.3	37	c.2751	CCDS32142.1	14																																																																																			-	CATSPERB	-	NULL		0.403	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	0	0	0	115	115	118	0.00	0.00	C	NM_024764		92058305	-1	48	58	85	53	tier1	no_errors	ENST00000256343	ensembl	human	known	74_37	silent	36.09	52.25	SNP	0.021	T	48	85
EMC1	23065	genome.wustl.edu	37	1	19565283	19565283	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:19565283C>T	ENST00000477853.1	-	10	1132				RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Intron|EMC1_ENST00000375199.3_Intron	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1							ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CAGTGCCACACCATACCTTTG	0.498													ENSG00000127463																																					0													130.0	130.0	130.0					1																	19565283		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1089+5G>A	1.37:g.19565283C>T			A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	R	SNP	-	NULL	ENST00000477853.1	37	NULL	CCDS190.1	1																																																																																			-	EMC1	-	-		0.498	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	0	0	0	109	109	128	0.00	0.00	C	NM_015047		19565283	-1	11	18	102	126	tier1	no_errors	ENST00000467423	ensembl	human	known	74_37	rna	9.73	12.50	SNP	0.557	T	11	102
LRP1B	53353	genome.wustl.edu	37	2	141946119	141946119	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:141946119C>T	ENST00000389484.3	-	7	1855	c.884G>A	c.(883-885)cGa>cAa	p.R295Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	295					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)		ATAGAGATTTCGAGTGAGCCA	0.408										TSP Lung(27;0.18)			ENSG00000168702																									Colon(99;50 2074 2507 20106)												0													105.0	93.0	97.0					2																	141946119		2203	4300	6503	SO:0001583	missense	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.884G>A	2.37:g.141946119C>T	ENSP00000374135:p.Arg295Gln		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	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.R295Q	ENST00000389484.3	37	c.884	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824873	0.71143	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96041	-3.89	5.2	5.2	0.72013	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.073683	0.53938	U	0.000048	D	0.93213	0.7838	L	0.45581	1.43	0.34198	D	0.672794	B	0.29552	0.248	B	0.27608	0.081	D	0.93997	0.7272	10	0.33940	T	0.23	.	18.7278	0.91720	0.0:1.0:0.0:0.0	.	295	Q9NZR2	LRP1B_HUMAN	Q	295;233	ENSP00000374135:R295Q	ENSP00000374135:R295Q	R	-	2	0	LRP1B	141662589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.937000	0.70162	2.406000	0.81754	0.655000	0.94253	CGA	-	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	0	0	0	70	70	102	0.00	0.00	C	NM_018557		141946119	-1	30	30	30	54	tier1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	50.00	35.71	SNP	1.000	T	30	30
ZNF831	128611	genome.wustl.edu	37	20	57770975	57770975	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:57770975C>T	ENST00000371030.2	+	2	3790	c.3790C>T	c.(3790-3792)Cca>Tca	p.P1264S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1264							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGTCTGAGCCAGAATGGAA	0.507													ENSG00000124203																																					0													180.0	179.0	179.0					20																	57770975		1937	4150	6087	SO:0001583	missense	0			-	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3790C>T	20.37:g.57770975C>T	ENSP00000360069:p.Pro1264Ser		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1264S	ENST00000371030.2	37	c.3790	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150415	0.37923	.	.	ENSG00000124203	ENST00000371030	T	0.07114	3.22	5.37	5.37	0.77165	.	0.376195	0.23096	N	0.051962	T	0.20618	0.0496	L	0.50333	1.59	0.09310	N	0.999997	D	0.69078	0.997	P	0.60173	0.87	T	0.01643	-1.1305	10	0.72032	D	0.01	-11.1484	14.9668	0.71201	0.0:1.0:0.0:0.0	.	1264	Q5JPB2	ZN831_HUMAN	S	1264	ENSP00000360069:P1264S	ENSP00000360069:P1264S	P	+	1	0	ZNF831	57204370	0.737000	0.28175	0.082000	0.20525	0.019000	0.09904	2.480000	0.45206	2.677000	0.91161	0.655000	0.94253	CCA	-	ZNF831	-	NULL		0.507	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	0	0	1	118	118	108	0.00	0.92	C	NM_178457		57770975	+1	59	44	67	106	tier1	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	46.83	29.14	SNP	0.162	T	59	67
YIF1A	10897	genome.wustl.edu	37	11	66055329	66055329	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:66055329T>C	ENST00000376901.4	-	3	486	c.302A>G	c.(301-303)tAc>tGc	p.Y101C	YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Missense_Mutation_p.Y101C|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	101					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CTTGGCCACGTAGGCTGTGTC	0.577													ENSG00000174851																																					0													141.0	149.0	146.0					11																	66055329		2200	4295	6495	SO:0001583	missense	0			-	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.302A>G	11.37:g.66055329T>C	ENSP00000366098:p.Tyr101Cys		A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	pfam_Hrf1,pfam_Yip1	p.Y101C	ENST00000376901.4	37	c.302	CCDS8132.1	11	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121061	0.77436	.	.	ENSG00000174851	ENST00000359461;ENST00000376901;ENST00000376904;ENST00000431556;ENST00000528575	T;T;T;T	0.77489	-1.09;-0.25;-1.05;-1.1	5.5	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.90487	0.7020	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91451	0.5181	10	0.87932	D	0	4.869	10.4848	0.44715	0.0:0.078:0.0:0.922	.	101	O95070	YIF1A_HUMAN	C	101	ENSP00000352437:Y101C;ENSP00000366098:Y101C;ENSP00000401953:Y101C;ENSP00000431935:Y101C	ENSP00000352437:Y101C	Y	-	2	0	YIF1A	65811905	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.467000	0.80930	1.041000	0.40125	0.459000	0.35465	TAC	-	YIF1A	-	pfam_Hrf1		0.577	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	HGNC	protein_coding	OTTHUMT00000219903.3	0	0	0	113	113	107	0.00	0.00	T	NM_020470		66055329	-1	42	29	77	74	tier1	no_errors	ENST00000376901	ensembl	human	known	74_37	missense	35.29	28.16	SNP	1.000	C	42	77
ZNF790	388536	genome.wustl.edu	37	19	37309433	37309433	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:37309433C>A	ENST00000356725.4	-	5	1933	c.1813G>T	c.(1813-1815)Gct>Tct	p.A605S	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGGTGTTGAGCAAAGTTTGAC	0.323													ENSG00000197863																																					0													94.0	99.0	97.0					19																	37309433		2203	4299	6502	SO:0001583	missense	0			-	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1813G>T	19.37:g.37309433C>A	ENSP00000349161:p.Ala605Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A605S	ENST00000356725.4	37	c.1813	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	2.998	-0.206652	0.06180	.	.	ENSG00000197863	ENST00000356725	T	0.15017	2.46	3.18	-4.23	0.03789	.	.	.	.	.	T	0.07908	0.0198	N	0.12443	0.215	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.34700	-0.9818	9	0.44086	T	0.13	.	6.347	0.21355	0.0:0.3101:0.137:0.5529	.	605	Q6PG37	ZN790_HUMAN	S	605	ENSP00000349161:A605S	ENSP00000349161:A605S	A	-	1	0	ZNF790	42001273	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.542000	0.06091	-0.791000	0.04486	-0.218000	0.12543	GCT	-	ZNF790	-	NULL		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	0	0	0	146	146	117	0.00	0.00	C	NM_206894		37309433	-1	19	22	105	100	tier1	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	15.32	18.03	SNP	0.000	A	19	105
ZNF530	348327	genome.wustl.edu	37	19	58115665	58115665	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:58115665G>A	ENST00000332854.6	+	2	271	c.51G>A	c.(49-51)gaG>gaA	p.E17E	ZNF530_ENST00000597864.1_5'UTR	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGCCTTTGAGGATGTGGCCA	0.512													ENSG00000183647																																					0													248.0	203.0	218.0					19																	58115665		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.51G>A	19.37:g.58115665G>A			O43340|Q9P220	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E17	ENST00000332854.6	37	c.51	CCDS12955.1	19																																																																																			-	ZNF530	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.512	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	0	0	0	90	90	130	0.00	0.00	G	NM_020880		58115665	+1	17	26	88	79	tier1	no_errors	ENST00000332854	ensembl	human	known	74_37	silent	16.19	24.76	SNP	0.398	A	17	88
CSRNP1	64651	genome.wustl.edu	37	3	39184660	39184660	+	Silent	SNP	G	G	A	rs267599815		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:39184660G>A	ENST00000273153.5	-	5	1833	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	CSRNP1_ENST00000514182.1_Silent_p.F552F	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	552					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGGACTCCAGGAAGCAACTGC	0.577													ENSG00000144655																																					0													51.0	59.0	57.0					3																	39184660		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1656C>T	3.37:g.39184660G>A			Q69YY5	Silent	SNP	prints_Cys/Ser-rich_nuc_prot	p.F552	ENST00000273153.5	37	c.1656	CCDS2682.1	3																																																																																			-	CSRNP1	-	NULL		0.577	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	HGNC	protein_coding	OTTHUMT00000254061.1	0	0	0	90	90	43	0.00	0.00	G	NM_033027		39184660	-1	46	19	57	20	tier1	no_errors	ENST00000273153	ensembl	human	known	74_37	silent	43.81	48.72	SNP	1.000	A	46	57
CKAP4	10970	genome.wustl.edu	37	12	106633618	106633618	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:106633618G>A	ENST00000378026.4	-	2	1129	c.993C>T	c.(991-993)ctC>ctT	p.L331L	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	331						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						GCTCCTGCTTGAGGCTCACCA	0.622													ENSG00000136026																																					0													34.0	36.0	35.0					12																	106633618		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.993C>T	12.37:g.106633618G>A			Q504S5|Q53ES6	Silent	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.L331	ENST00000378026.4	37	c.993	CCDS9103.1	12																																																																																			-	CKAP4	-	NULL		0.622	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	0	0	0	55	55	33	0.00	0.00	G			106633618	-1	13	7	35	20	tier1	no_errors	ENST00000378026	ensembl	human	known	74_37	silent	27.08	25.93	SNP	1.000	A	13	35
APOBEC3B	9582	genome.wustl.edu	37	22	39380213	39380213	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:39380213G>A	ENST00000333467.3	+	2	196	c.151G>A	c.(151-153)Gac>Aac	p.D51N	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.D51N|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.D51N	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	51					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TCTCCTTTGGGACACAGGGGT	0.493													ENSG00000179750																																					0													51.0	55.0	54.0					22																	39380213		2198	4279	6477	SO:0001583	missense	0			-	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.151G>A	22.37:g.39380213G>A	ENSP00000327459:p.Asp51Asn		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.D51N	ENST00000333467.3	37	c.151	CCDS13982.1	22	.	.	.	.	.	.	.	.	.	.	.	6.225	0.409594	0.11812	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64618	-0.11;-0.11;-0.11	2.07	-4.13	0.03904	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.45597	0.1350	L	0.53617	1.68	0.09310	N	1	P;B	0.41008	0.735;0.003	B;B	0.32980	0.156;0.014	T	0.31668	-0.9935	9	0.41790	T	0.15	.	5.2028	0.15275	0.0:0.4519:0.221:0.3271	.	51;51	B0QYD2;Q9UH17	.;ABC3B_HUMAN	N	51	ENSP00000385068:D51N;ENSP00000385060:D51N;ENSP00000327459:D51N	ENSP00000327459:D51N	D	+	1	0	APOBEC3B	37710159	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.835000	0.00354	-0.953000	0.03645	-0.534000	0.04291	GAC	-	APOBEC3B	-	pfam_APOBEC_N		0.493	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	0	0	0	106	106	86	0.00	0.00	G	NM_004900		39380213	+1	23	17	72	70	tier1	no_errors	ENST00000333467	ensembl	human	known	74_37	missense	24.21	19.54	SNP	0.000	A	23	72
MUC5AC	4586	genome.wustl.edu	37	11	1214196	1214196	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1214196C>T	ENST00000358378.6	+	0	1180							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		AAATGCGGTTCCCCCCAGAAA	0.572													ENSG00000215182																																					0													11.0	10.0	10.0					11																	1214196		855	1976	2831	SO:0001624	3_prime_UTR_variant	0			-	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*1177C>T	11.37:g.1214196C>T			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	R	SNP	-	NULL	ENST00000358378.6	37	NULL		11																																																																																			-	MUC5AC	-	-		0.572	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	MUC5AC	HGNC	protein_coding	OTTHUMT00000396096.2	0	0	0	67	67	152	0.00	0.00	C	XM_001130382		1214196	+1	11	12	48	96	tier1	no_errors	ENST00000358378	ensembl	human	putative	74_37	rna	18.64	11.11	SNP	0.904	T	11	48
SNAP91	9892	genome.wustl.edu	37	6	84350864	84350864	+	Missense_Mutation	SNP	C	C	T	rs201947130	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:84350864C>T	ENST00000439399.2	-	8	1032	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	SNAP91_ENST00000520213.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000521485.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000428679.2_Missense_Mutation_p.R239Q|SNAP91_ENST00000369694.2_Missense_Mutation_p.R239Q|SNAP91_ENST00000437520.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000521743.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000195649.6_Missense_Mutation_p.R239Q|SNAP91_ENST00000520302.1_Missense_Mutation_p.R239Q	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	239					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTAGAAATCGTTTGTAAAT	0.284													ENSG00000065609																																					0													51.0	50.0	50.0					6																	84350864		1791	4049	5840	SO:0001583	missense	0			-	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.716G>A	6.37:g.84350864C>T	ENSP00000400459:p.Arg239Gln		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.R239Q	ENST00000439399.2	37	c.716	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.084599	0.94100	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931	T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	6.06	5.18	0.71444	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.054016	0.64402	D	0.000001	T	0.54013	0.1832	M	0.79123	2.44	0.50813	D	0.999892	D;D;D;D	0.76494	0.989;0.993;0.999;0.993	P;P;D;P	0.68192	0.738;0.738;0.956;0.617	T	0.56902	-0.7902	10	0.87932	D	0	-7.6415	15.7718	0.78176	0.0:0.9339:0.0:0.0661	.	239;239;239;239	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	Q	239	ENSP00000429776:R239Q;ENSP00000358708:R239Q;ENSP00000400459:R239Q;ENSP00000195649:R239Q;ENSP00000412492:R239Q;ENSP00000413277:R239Q;ENSP00000428511:R239Q;ENSP00000428215:R239Q;ENSP00000428026:R239Q;ENSP00000430071:R239Q	ENSP00000195649:R239Q	R	-	2	0	SNAP91	84407583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.915000	0.56409	2.882000	0.98803	0.655000	0.94253	CGA	-	SP91	-	pfam_ANTH_dom		0.284	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SP91	HGNC	protein_coding	OTTHUMT00000375296.1	0	0	0	220	220	85	0.00	0.00	C			84350864	-1	50	29	136	83	tier1	no_errors	ENST00000369694	ensembl	human	known	74_37	missense	26.74	25.89	SNP	1.000	T	50	136
ISM1	140862	genome.wustl.edu	37	20	13251361	13251361	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:13251361G>A	ENST00000262487.4	+	2	355	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	117						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TTCCAAAGCTGATATCAATGG	0.443													ENSG00000101230																																					0													71.0	66.0	68.0					20																	13251361		1852	4098	5950	SO:0001583	missense	0			-	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.349G>A	20.37:g.13251361G>A	ENSP00000262487:p.Asp117Asn		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.D117N	ENST00000262487.4	37	c.349	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.267888	0.95399	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.58652	0.32;0.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.74650	0.3744	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73805	-0.3867	10	0.52906	T	0.07	-22.2274	19.8633	0.96793	0.0:0.0:1.0:0.0	.	117	B1AKI9	ISM1_HUMAN	N	117;71	ENSP00000262487:D117N;ENSP00000409938:D71N	ENSP00000262487:D117N	D	+	1	0	ISM1	13199361	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.229000	0.95273	2.697000	0.92050	0.591000	0.81541	GAT	-	ISM1	-	NULL		0.443	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	0	0	0	69	69	137	0.00	0.00	G			13251361	+1	49	39	74	114	tier1	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	39.52	25.49	SNP	1.000	A	49	74
ZSCAN20	7579	genome.wustl.edu	37	1	33956656	33956656	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:33956656C>T	ENST00000361328.3	+	6	951	c.798C>T	c.(796-798)tcC>tcT	p.S266S	ZSCAN20_ENST00000373413.2_Silent_p.S212S	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	266					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAATACCTCCGAGAAAGAGC	0.438													ENSG00000121903																																					0													57.0	54.0	55.0					1																	33956656		1837	4098	5935	SO:0001819	synonymous_variant	0			-	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.798C>T	1.37:g.33956656C>T			A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S266	ENST00000361328.3	37	c.798	CCDS41300.1	1																																																																																			-	ZSCAN20	-	NULL		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	0	0	0	52	52	85	0.00	0.00	C	NM_145238		33956656	+1	8	30	28	63	tier1	no_errors	ENST00000361328	ensembl	human	known	74_37	silent	22.22	32.26	SNP	0.001	T	8	28
RP11-184E9.1	0	genome.wustl.edu	37	5	25190556	25190556	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:25190556C>T	ENST00000502100.2	+	0	0				RP11-549K20.1_ENST00000507600.1_lincRNA																							CTTCGCTCACCTTTCAGGCCC	0.582													ENSG00000251273																																					0																																												0			-																													5.37:g.25190556C>T				R	SNP	-	NULL	ENST00000502100.2	37	NULL		5																																																																																			-	RP11-549K20.1	-	-		0.582	RP11-184E9.1-001	KNOWN	basic	lincRNA	ENSG00000251273	Clone_based_vega_gene	lincRNA	OTTHUMT00000366522.1	0	0	0	49	49	56	0.00	0.00	C			25190556	-1	6	5	43	22	tier1	no_errors	ENST00000507600	ensembl	human	known	74_37	rna	12.24	18.52	SNP	0.399	T	6	43
GPR64	10149	genome.wustl.edu	37	X	19017310	19017310	+	Silent	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:19017310A>T	ENST00000379869.3	-	26	2581	c.2418T>A	c.(2416-2418)atT>atA	p.I806I	GPR64_ENST00000379873.2_Silent_p.I806I|GPR64_ENST00000357991.3_Silent_p.I803I|GPR64_ENST00000360279.4_Silent_p.I784I|GPR64_ENST00000379876.1_Silent_p.I782I|GPR64_ENST00000357544.3_Silent_p.I776I|GPR64_ENST00000340581.3_Silent_p.I687I|GPR64_ENST00000354791.3_Silent_p.I790I|GPR64_ENST00000356606.4_Silent_p.I792I|GPR64_ENST00000379878.3_Silent_p.I790I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	806					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCAGGACCACAATGAACATGC	0.448													ENSG00000173698																																					0													143.0	138.0	140.0					X																	19017310		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2418T>A	X.37:g.19017310A>T			B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I806	ENST00000379869.3	37	c.2418	CCDS43923.1	X																																																																																			-	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.448	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	0	0	0	49	49	67	0.00	0.00	A			19017310	-1	36	31	17	16	tier1	no_errors	ENST00000379869	ensembl	human	known	74_37	silent	67.92	64.58	SNP	0.876	T	36	17
NPHP1	4867	genome.wustl.edu	37	2	110881436	110881436	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:110881436G>A	ENST00000393272.3	-	20	2228	c.2131C>T	c.(2131-2133)Cat>Tat	p.H711Y	NPHP1_ENST00000445609.2_Missense_Mutation_p.H656Y|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000355301.4_Missense_Mutation_p.H593Y|NPHP1_ENST00000417665.1_Missense_Mutation_p.H690Y|NPHP1_ENST00000316534.4_Missense_Mutation_p.H712Y	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	711					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AAAGGTTCATGAACTCCGTCT	0.502													ENSG00000144061																																					0													113.0	100.0	104.0					2																	110881436		2203	4300	6503	SO:0001583	missense	0			-	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2131C>T	2.37:g.110881436G>A	ENSP00000376953:p.His711Tyr		O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.H712Y	ENST00000393272.3	37	c.2134	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988753	0.53934	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.66099	-0.11;-0.1;-0.11;-0.08;-0.19	5.7	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.81914	0.988;0.991;0.987;0.995;0.991	T	0.81256	-0.1015	10	0.87932	D	0	-22.6663	14.912	0.70764	0.0:0.1438:0.8562:0.0	.	655;593;711;656;712	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	Y	712;656;711;593;690	ENSP00000313169:H712Y;ENSP00000389879:H656Y;ENSP00000376953:H711Y;ENSP00000347452:H593Y;ENSP00000402176:H690Y	ENSP00000313169:H712Y	H	-	1	0	NPHP1	110238725	0.997000	0.39634	0.101000	0.21167	0.606000	0.37113	3.754000	0.55189	2.690000	0.91761	0.462000	0.41574	CAT	-	NPHP1	-	NULL		0.502	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	0	0	0	65	65	106	0.00	0.00	G	NM_000272		110881436	-1	35	34	38	41	tier1	no_errors	ENST00000316534	ensembl	human	known	74_37	missense	47.95	44.74	SNP	0.414	A	35	38
DPP10	57628	genome.wustl.edu	37	2	116447290	116447290	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:116447290T>A	ENST00000410059.1	+	6	949	c.469T>A	c.(469-471)Tat>Aat	p.Y157N	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.Y107N|DPP10_ENST00000393147.2_Missense_Mutation_p.Y161N|DPP10_ENST00000310323.8_Missense_Mutation_p.Y150N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	157						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TACTGCTTCATATGTGATTTA	0.254													ENSG00000175497																																					0													83.0	79.0	81.0					2																	116447290		2203	4299	6502	SO:0001583	missense	0			-	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.469T>A	2.37:g.116447290T>A	ENSP00000386565:p.Tyr157Asn		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.Y161N	ENST00000410059.1	37	c.481	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970620	0.74246	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.85	4.85	0.62838	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	H	0.94658	3.565	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80274	-0.1451	10	0.87932	D	0	-30.9377	12.308	0.54912	0.0:0.0:0.0:1.0	.	150;161;153;157	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	157;107;153;161;150;107	ENSP00000386565:Y157N;ENSP00000387038:Y107N;ENSP00000376854:Y153N;ENSP00000376855:Y161N;ENSP00000309066:Y150N	ENSP00000309066:Y150N	Y	+	1	0	DPP10	116163760	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	6.458000	0.73509	2.035000	0.60131	0.528000	0.53228	TAT	-	DPP10	-	pfam_Peptidase_S9B		0.254	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	0	0	0	75	75	61	0.00	0.00	T	NM_020868		116447290	+1	15	18	50	37	tier1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	23.08	32.73	SNP	1.000	A	15	50
DYNC2H1	79659	genome.wustl.edu	37	11	103270502	103270502	+	Missense_Mutation	SNP	G	G	T	rs376545196		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:103270502G>T	ENST00000375735.2	+	84	12412	c.12268G>T	c.(12268-12270)Gtc>Ttc	p.V4090F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V4097F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4090					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTACAAAGTGTCCACCAGTC	0.383													ENSG00000187240																																					0													100.0	94.0	96.0					11																	103270502		1888	4109	5997	SO:0001583	missense	0			-	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12268G>T	11.37:g.103270502G>T	ENSP00000364887:p.Val4090Phe		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V4097F	ENST00000375735.2	37	c.12289	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015505	0.75161	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621	T;T	0.10668	2.85;2.85	5.78	4.88	0.63580	Dynein heavy chain (1);	0.208186	0.42294	D	0.000728	T	0.30916	0.0780	M	0.84326	2.69	0.51482	D	0.999926	P;P	0.46912	0.886;0.862	P;P	0.61070	0.883;0.764	T	0.03641	-1.1017	10	0.87932	D	0	.	9.1643	0.37041	0.2166:0.0:0.7834:0.0	.	4090;4097	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	4090;4097;336	ENSP00000364887:V4090F;ENSP00000381167:V4097F	ENSP00000364887:V4090F	V	+	1	0	DYNC2H1	102775712	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.328000	0.52052	1.458000	0.47871	0.557000	0.71058	GTC	-	DYNC2H1	-	pfam_Dynein_heavy_dom		0.383	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	0	0	0	86	86	99	0.00	0.00	G	XM_370652		103270502	+1	8	12	33	64	tier1	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	19.51	15.79	SNP	1.000	T	8	33
CCDC33	80125	genome.wustl.edu	37	15	74588137	74588137	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:74588137C>T	ENST00000398814.3	+	11	1569	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	CCDC33_ENST00000321288.5_Missense_Mutation_p.P583S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	583										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAAGGCTCTTCCTACCTTGGA	0.512													ENSG00000140481																																					0													77.0	77.0	77.0					15																	74588137		1946	4132	6078	SO:0001583	missense	0			-	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1138C>T	15.37:g.74588137C>T	ENSP00000381795:p.Pro380Ser		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.P583S	ENST00000398814.3	37	c.1747	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814340	0.50527	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.60672	0.17;0.48	4.92	4.92	0.64577	.	0.110096	0.39544	N	0.001322	T	0.74114	0.3674	M	0.71581	2.175	0.42866	D	0.994122	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.75676	-0.3235	10	0.46703	T	0.11	.	15.0191	0.71613	0.0:1.0:0.0:0.0	.	583;380	C9JFX2;Q8N5R6-6	.;.	S	583;380	ENSP00000325012:P583S;ENSP00000381795:P380S	ENSP00000325012:P583S	P	+	1	0	CCDC33	72375190	0.997000	0.39634	0.699000	0.30290	0.282000	0.26991	3.773000	0.55333	2.279000	0.76181	0.561000	0.74099	CCT	-	CCDC33	-	NULL		0.512	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2	0	0	0	42	42	121	0.00	0.00	C	NM_182791		74588137	+1	11	21	35	64	tier1	no_errors	ENST00000321288	ensembl	human	known	74_37	missense	23.91	24.71	SNP	0.897	T	11	35
SART3	9733	genome.wustl.edu	37	12	108939020	108939020	+	Silent	SNP	G	G	A	rs549764051		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:108939020G>A	ENST00000228284.3	-	4	858	c.624C>T	c.(622-624)tcC>tcT	p.S208S	SART3_ENST00000552221.1_5'Flank|SART3_ENST00000431469.2_Silent_p.S208S	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	208					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTTCAAACACGGAGCGAACTT	0.473									Porokeratosis				ENSG00000075856	G|||	1	0.000199681	0.0008	0.0	5008	,	,		19598	0.0		0.0	False		,,,				2504	0.0																0													141.0	123.0	129.0					12																	108939020		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	-	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.624C>T	12.37:g.108939020G>A			A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Silent	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S208	ENST00000228284.3	37	c.624	CCDS9117.1	12																																																																																			-	SART3	-	smart_HAT		0.473	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	0	0	0	120	120	173	0.00	0.00	G			108939020	-1	27	22	47	75	tier1	no_errors	ENST00000228284	ensembl	human	known	74_37	silent	36.00	22.68	SNP	0.999	A	27	47
SYNDIG1	79953	genome.wustl.edu	37	20	24565519	24565519	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:24565519G>C	ENST00000376862.3	+	3	1141	c.508G>C	c.(508-510)Gag>Cag	p.E170Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	170					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CACAGAGAGTGAGGACAATTT	0.552													ENSG00000101463																																					0													143.0	133.0	137.0					20																	24565519		2203	4300	6503	SO:0001583	missense	0			-	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.508G>C	20.37:g.24565519G>C	ENSP00000366058:p.Glu170Gln		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.E170Q	ENST00000376862.3	37	c.508	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625982	0.87560	.	.	ENSG00000101463	ENST00000376862	D	0.94184	-3.37	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.95664	0.8590	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95460	0.8542	10	0.52906	T	0.07	-29.2931	14.0241	0.64575	0.0:0.0:1.0:0.0	.	170	Q9H7V2	SYNG1_HUMAN	Q	170	ENSP00000366058:E170Q	ENSP00000366058:E170Q	E	+	1	0	SYNDIG1	24513519	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.535000	0.98064	2.382000	0.81193	0.561000	0.74099	GAG	-	SYNDIG1	-	NULL		0.552	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	0	0	0	51	51	68	0.00	0.00	G	NM_024893		24565519	+1	26	24	30	54	tier1	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	46.43	30.77	SNP	1.000	C	26	30
NWD2	57495	genome.wustl.edu	37	4	37440572	37440572	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:37440572C>A	ENST00000309447.5	+	6	1704	c.856C>A	c.(856-858)Ccg>Acg	p.P286T		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		286										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TGGAACAGAACCGAGGATTAT	0.393													ENSG00000174145																																					0													150.0	144.0	146.0					4																	37440572		692	1591	2283	SO:0001583	missense	0			-																												ENST00000309447.5:c.856C>A	4.37:g.37440572C>A	ENSP00000309501:p.Pro286Thr		A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.P286T	ENST00000309447.5	37	c.856	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065365	0.36470	.	.	ENSG00000174145	ENST00000309447	T	0.80653	-1.4	5.46	5.46	0.80206	.	0.537330	0.15153	U	0.277579	T	0.63965	0.2556	N	0.14661	0.345	0.30193	N	0.799327	B	0.19817	0.039	B	0.17433	0.018	T	0.55970	-0.8056	10	0.14656	T	0.56	.	9.8506	0.41055	0.1317:0.678:0.1903:0.0	.	286	Q9ULI1	K1239_HUMAN	T	286	ENSP00000309501:P286T	ENSP00000309501:P286T	P	+	1	0	KIAA1239	37116967	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.524000	0.67105	2.560000	0.86352	0.561000	0.74099	CCG	-	KIAA1239	-	NULL		0.393	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	0	0	0	88	88	152	0.00	0.00	C			37440572	+1	8	9	41	70	tier1	no_errors	ENST00000309447	ensembl	human	known	74_37	missense	16.33	11.39	SNP	0.988	A	8	41
DANCR	57291	genome.wustl.edu	37	4	53579716	53579716	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:53579716C>T	ENST00000411630.2	+	0	290				MIR4449_ENST00000578365.1_RNA|SNORA26_ENST00000391286.1_RNA	NR_024031.1		P0C864	DANCR_HUMAN	differentiation antagonizing non-protein coding RNA																		GCTGGTATTTCAATTGACTTA	0.393													ENSG00000226950																																					0																																												0			-	BC015222		4q12	2013-07-03	2012-02-09	2012-02-09	ENSG00000226950	ENSG00000226950		"""Long non-coding RNAs"", ""-"""	28964	non-coding RNA	RNA, long non-coding	"""anti-differentiation ncRNA"", ""adipogenesis up-regulated transcript 2"""	614625	"""KIAA0114"", ""small nucleolar RNA host gene 13 (non-protein coding)"""	KIAA0114, SNHG13		7788527, 22302877, 19531736	Standard	NR_024031		Approved	ANCR, AGU2	uc003gzo.2	P0C864	OTTHUMG00000154670		4.37:g.53579716C>T			A0A024RD90	R	SNP	-	NULL	ENST00000411630.2	37	NULL		4																																																																																			-	DANCR	-	-		0.393	DANCR-001	KNOWN	basic	lincRNA	DANCR	HGNC	processed_transcript	OTTHUMT00000336530.1	0	0	0	13	13	124	0.00	0.00	C	NR_024031		53579716	+1	10	43	6	105	tier1	no_errors	ENST00000411630	ensembl	human	known	74_37	rna	62.50	29.05	SNP	0.056	T	10	6
CELA2A	63036	genome.wustl.edu	37	1	15788056	15788056	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:15788056G>A	ENST00000359621.4	+	3	155	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TTCTCCCCAGGTCTCCCTGCA	0.597													ENSG00000142615																																					0													96.0	85.0	89.0					1																	15788056		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.130-1G>A	1.37:g.15788056G>A			B2R5I4|Q14243	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V44I	ENST00000359621.4	37	c.130	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	G	0.114	-1.134359	0.01742	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.95656	-3.77	4.12	3.21	0.36854	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.128123	0.33180	U	0.005190	D	0.92629	0.7658	M	0.64676	1.99	0.32713	N	0.511359	B	0.15930	0.015	B	0.23716	0.048	D	0.88943	0.3381	9	.	.	.	.	7.4281	0.27111	0.2066:0.0:0.7934:0.0	.	44	P08217	CEL2A_HUMAN	I	44	ENSP00000352639:V44I	.	V	+	1	0	CELA2A	15660643	1.000000	0.71417	0.994000	0.49952	0.028000	0.11728	2.121000	0.41977	0.724000	0.32296	0.306000	0.20318	GTC	-	CELA2A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.597	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	0	0	0	52	52	51	0.00	0.00	G	NM_033440	Missense_Mutation	15788056	+1	13	4	71	33	tier1	no_errors	ENST00000359621	ensembl	human	known	74_37	missense	15.48	10.81	SNP	1.000	A	13	71
LRRC74A	145497	genome.wustl.edu	37	14	77292895	77292895	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:77292895G>A	ENST00000393774.3	+	1	181	c.57G>A	c.(55-57)agG>agA	p.R19R	C14orf166B_ENST00000450042.2_5'UTR|C14orf166B_ENST00000216453.5_5'Flank|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGGAGGGAAGGATAACTGCAG	0.537													ENSG00000100565																									Ovarian(165;1056 1958 32571 36789 48728)												0													46.0	49.0	48.0					14																	77292895		1881	4126	6007	SO:0001819	synonymous_variant	0			-																												ENST00000393774.3:c.57G>A	14.37:g.77292895G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R19	ENST00000393774.3	37	c.57	CCDS9853.2	14																																																																																			-	C14orf166B	-	NULL		0.537	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	HGNC	protein_coding	OTTHUMT00000316592.1	0	0	0	43	43	93	0.00	0.00	G			77292895	+1	23	37	40	44	tier1	no_errors	ENST00000393774	ensembl	human	known	74_37	silent	36.51	45.68	SNP	0.000	A	23	40
GRIN3A	116443	genome.wustl.edu	37	9	104356751	104356751	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:104356751C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.E154E	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACTGAATTCCTCAAAGGATA	0.507													ENSG00000188386																																					0													121.0	102.0	108.0					9																	104356751		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15109G>A	9.37:g.104356751C>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E154	ENST00000361820.3	37	c.462	CCDS6758.1	9																																																																																			-	PPP3R2	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom		0.507	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	0	0	0	61	61	104	0.00	0.00	C			104356751	-1	33	29	19	28	tier1	no_errors	ENST00000374806	ensembl	human	known	74_37	silent	63.46	50.00	SNP	1.000	T	33	19
TMCO5A	145942	genome.wustl.edu	37	15	38229552	38229552	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:38229552G>A	ENST00000319669.4	+	4	372	c.270G>A	c.(268-270)agG>agA	p.R90R	TMCO5A_ENST00000558158.1_Silent_p.R90R|TMCO5A_ENST00000559502.1_Silent_p.R90R|TMCO5A_ENST00000540944.1_Silent_p.R90R	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	90						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CACAGGAAAGGAAGAATAAGA	0.428													ENSG00000166069																																					0													143.0	135.0	138.0					15																	38229552		2200	4297	6497	SO:0001819	synonymous_variant	0			-	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.270G>A	15.37:g.38229552G>A			Q8NA63	Silent	SNP	NULL	p.R90	ENST00000319669.4	37	c.270	CCDS10046.1	15																																																																																			-	TMCO5A	-	NULL		0.428	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO5A	HGNC	protein_coding	OTTHUMT00000252012.1	0	0	0	104	104	167	0.00	0.00	G	NM_152453		38229552	+1	36	38	37	39	tier1	no_errors	ENST00000319669	ensembl	human	known	74_37	silent	49.32	49.35	SNP	1.000	A	36	37
LOC100631378	100631378	genome.wustl.edu	37	19	38327560	38327560	+	lincRNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:38327560G>A	ENST00000592640.1	-	0	252					NR_040015.1																						TCTTATTTATGAGGAACTTCA	0.448													ENSG00000225868																																					0																																												0			-																													19.37:g.38327560G>A				R	SNP	-	NULL	ENST00000592640.1	37	NULL		19																																																																																			-	AC016582.2	-	-		0.448	AC016582.2-001	KNOWN	basic	lincRNA	LOC100631378	Clone_based_vega_gene	lincRNA	OTTHUMT00000109619.2	0	0	0	65	65	92	0.00	0.00	G			38327560	-1	27	53	32	55	tier1	no_errors	ENST00000433142	ensembl	human	known	74_37	rna	45.76	49.07	SNP	0.345	A	27	32
SLC25A6	293	genome.wustl.edu	37	X	1505534	1505534	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:1505534G>A	ENST00000381401.5	-	4	1572	c.858C>T	c.(856-858)ttC>ttT	p.F286F	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	286					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GGACCAGCACGAAGGCGCCCC	0.602													ENSG00000169100																																					0													241.0	221.0	227.0					X																	1505534		2203	4296	6499	SO:0001819	synonymous_variant	0			-	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.858C>T	X.37:g.1505534G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.F286	ENST00000381401.5	37	c.858	CCDS14114.1	X																																																																																			-	SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling		0.602	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	0	0	0	157	157	55	0.00	0.00	G	NM_001636		1505534	-1	70	22	77	13	tier1	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	47.62	62.86	SNP	0.996	A	70	77
CCDC60	160777	genome.wustl.edu	37	12	119866561	119866561	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:119866561G>A	ENST00000327554.2	+	2	629	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	CCDC60_ENST00000536742.1_Missense_Mutation_p.R55Q|RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000539847.1_Missense_Mutation_p.R55Q|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	55										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GACCTTATACGAAGCCGGTGA	0.478													ENSG00000183273																																					0													63.0	55.0	58.0					12																	119866561		2203	4299	6502	SO:0001583	missense	0			-	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.164G>A	12.37:g.119866561G>A	ENSP00000333374:p.Arg55Gln			Missense_Mutation	SNP	NULL	p.R55Q	ENST00000327554.2	37	c.164	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474767	0.63737	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.64803	0.19;1.9;-0.12	4.54	4.54	0.55810	.	0.145780	0.31061	N	0.008324	T	0.71195	0.3311	L	0.47716	1.5	0.30098	N	0.807698	D	0.89917	1.0	D	0.81914	0.995	T	0.66810	-0.5829	9	.	.	.	-10.5494	13.0949	0.59187	0.0:0.0:1.0:0.0	.	55	Q8IWA6	CCD60_HUMAN	Q	55	ENSP00000445505:R55Q;ENSP00000333374:R55Q;ENSP00000443403:R55Q	.	R	+	2	0	CCDC60	118350944	0.908000	0.30866	0.959000	0.39883	0.943000	0.58893	3.769000	0.55303	2.814000	0.96858	0.655000	0.94253	CGA	-	CCDC60	-	NULL		0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	0	0	0	85	85	133	0.00	0.00	G	NM_178499		119866561	+1	12	21	48	59	tier1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	20.00	26.25	SNP	0.962	A	12	48
USH2A	7399	genome.wustl.edu	37	1	215914811	215914811	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:215914811G>A	ENST00000307340.3	-	60	12003	c.11617C>T	c.(11617-11619)Cct>Tct	p.P3873S	USH2A_ENST00000366943.2_Missense_Mutation_p.P3873S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3873	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAAGAACAGGAGAATTAAGA	0.378										HNSCC(13;0.011)			ENSG00000042781																																					0													124.0	126.0	125.0					1																	215914811		2203	4300	6503	SO:0001583	missense	0			-	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11617C>T	1.37:g.215914811G>A	ENSP00000305941:p.Pro3873Ser		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P3873S	ENST00000307340.3	37	c.11617	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956892	0.53293	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56776	0.44;0.44	5.38	5.38	0.77491	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000420	T	0.73481	0.3592	M	0.81942	2.565	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.68123	-0.5492	10	0.18276	T	0.48	.	19.3333	0.94303	0.0:0.0:1.0:0.0	.	3873	O75445	USH2A_HUMAN	S	3873	ENSP00000305941:P3873S;ENSP00000355910:P3873S	ENSP00000305941:P3873S	P	-	1	0	USH2A	213981434	1.000000	0.71417	0.180000	0.23079	0.038000	0.13279	7.423000	0.80229	2.793000	0.96121	0.655000	0.94253	CCT	-	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	0	0	0	73	73	121	0.00	0.00	G	NM_007123		215914811	-1	23	12	67	63	tier1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	25.56	15.79	SNP	0.980	A	23	67
ATG101	60673	genome.wustl.edu	37	12	52470782	52470782	+	Silent	SNP	C	C	T	rs373128893		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:52470782C>T	ENST00000336854.4	+	4	943	c.465C>T	c.(463-465)atC>atT	p.I155I	RP11-1100L3.7_ENST00000550301.1_RNA|OR7E47P_ENST00000546390.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		155					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TCATCAACATCGTGGAGGTGA	0.582													ENSG00000123395																																					0								C	,	0,4406		0,0,2203	165.0	126.0	139.0		465,465	-7.1	0.4	12		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C12orf44	NM_001098673.1,NM_021934.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	155/219,155/219	52470782	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-																												ENST00000336854.4:c.465C>T	12.37:g.52470782C>T			Q9HAE2|Q9HBN1	Silent	SNP	pfam_ATG101	p.I155	ENST00000336854.4	37	c.465	CCDS8820.1	12																																																																																			-	C12orf44	-	pfam_ATG101		0.582	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf44	HGNC	protein_coding	OTTHUMT00000405063.1	0	0	0	51	51	109	0.00	0.00	C			52470782	+1	8	22	29	52	tier1	no_errors	ENST00000336854	ensembl	human	known	74_37	silent	21.62	29.73	SNP	0.153	T	8	29
LRRC7	57554	genome.wustl.edu	37	1	70486803	70486803	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:70486803G>A	ENST00000035383.5	+	14	1452	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Silent_p.G479G|LRRC7_ENST00000415775.2_Missense_Mutation_p.G6E	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	474						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAATGCTGGGAAAGTTAAGG	0.383													ENSG00000033122																																					0													92.0	85.0	88.0					1																	70486803		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1422G>A	1.37:g.70486803G>A			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G6E	ENST00000035383.5	37	c.17	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132922	0.56828	.	.	ENSG00000033122	ENST00000415775	T	0.16073	2.37	5.93	1.49	0.22878	.	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	.	.	.	0.23802	N	0.996806	B	0.06786	0.001	B	0.09377	0.004	T	0.33497	-0.9866	9	0.87932	D	0	.	5.8317	0.18584	0.2986:0.2212:0.4803:0.0	.	6	F8WE45	.	E	6	ENSP00000394867:G6E	ENSP00000394867:G6E	G	+	2	0	LRRC7	70259391	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	0.933000	0.28897	0.825000	0.34637	0.655000	0.94253	GGA	-	LRRC7	-	NULL		0.383	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	0	0	0	209	209	158	0.00	0.00	G	NM_020794		70486803	+1	90	63	104	83	tier1	no_errors	ENST00000415775	ensembl	human	known	74_37	missense	46.39	43.15	SNP	0.992	A	90	104
ZNF284	342909	genome.wustl.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:44591126C>T	ENST00000421176.3	+	5	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418													ENSG00000186026																																					0													47.0	50.0	49.0					19																	44591126		2145	4284	6429	SO:0001583	missense	0			-	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1495C>T	19.37:g.44591126C>T	ENSP00000411032:p.Arg499Cys		Q86WM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R499C	ENST00000421176.3	37	c.1495	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291639	0.40594	.	.	ENSG00000186026	ENST00000421176	T	0.22539	1.95	2.37	-4.75	0.03239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34308	0.0893	M	0.75884	2.315	0.09310	N	1	D	0.76494	0.999	P	0.62813	0.907	T	0.17899	-1.0354	9	0.38643	T	0.18	.	6.6298	0.22851	0.5364:0.346:0.1176:0.0	.	499	Q2VY69	ZN284_HUMAN	C	499	ENSP00000411032:R499C	ENSP00000411032:R499C	R	+	1	0	ZNF284	49282966	0.000000	0.05858	0.001000	0.08648	0.339000	0.28857	-1.219000	0.02973	-0.854000	0.04131	0.462000	0.41574	CGT	-	ZNF284	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	HGNC	protein_coding	OTTHUMT00000460473.1	0	0	0	90	90	81	0.00	0.00	C	NM_001037813		44591126	+1	31	39	29	37	tier1	no_errors	ENST00000421176	ensembl	human	known	74_37	missense	51.67	51.32	SNP	0.004	T	31	29
PKHD1L1	93035	genome.wustl.edu	37	8	110445410	110445410	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:110445410T>C	ENST00000378402.5	+	28	3409	c.3305T>C	c.(3304-3306)gTt>gCt	p.V1102A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1102	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAGTCTCAGTTGGACCAGTA	0.368										HNSCC(38;0.096)			ENSG00000205038																																					0													253.0	240.0	244.0					8																	110445410		1829	4085	5914	SO:0001583	missense	0			-	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3305T>C	8.37:g.110445410T>C	ENSP00000367655:p.Val1102Ala		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.V1102A	ENST00000378402.5	37	c.3305	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986686	0.35036	.	.	ENSG00000205038	ENST00000378402	T	0.79141	-1.24	5.51	4.35	0.52113	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.338132	0.27705	N	0.018189	T	0.78413	0.4279	M	0.80422	2.495	0.22933	N	0.998547	B	0.29232	0.238	B	0.34590	0.186	T	0.72737	-0.4203	10	0.72032	D	0.01	.	8.3543	0.32321	0.0:0.09:0.0:0.91	.	1102	Q86WI1	PKHL1_HUMAN	A	1102	ENSP00000367655:V1102A	ENSP00000367655:V1102A	V	+	2	0	PKHD1L1	110514586	1.000000	0.71417	0.998000	0.56505	0.493000	0.33554	2.005000	0.40864	1.023000	0.39654	0.533000	0.62120	GTT	-	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	0	0	0	166	166	158	0.00	0.00	T	NM_177531		110445410	+1	66	75	157	131	tier1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	29.46	36.41	SNP	0.996	C	66	157
ITPR1	3708	genome.wustl.edu	37	3	4714890	4714890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:4714890C>T	ENST00000443694.2	+	18	2230	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	ITPR1_ENST00000302640.8_Nonsense_Mutation_p.Q744*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.Q759*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.Q759*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.Q744*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.Q759*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	759					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AATCTCAGGCCAGCTGGATGT	0.542													ENSG00000150995																																					0													56.0	59.0	58.0					3																	4714890		2079	4221	6300	SO:0001587	stop_gained	0			-	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2230C>T	3.37:g.4714890C>T	ENSP00000401671:p.Gln744*		E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q744*	ENST00000443694.2	37	c.2230	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.258513	0.98729	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.74	3.85	0.44370	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	14.2731	0.66164	0.1504:0.8496:0.0:0.0	.	.	.	.	X	759;744;759;759;759;744;744	.	ENSP00000306253:Q744X	Q	+	1	0	ITPR1	4689890	1.000000	0.71417	0.994000	0.49952	0.038000	0.13279	7.540000	0.82074	1.327000	0.45338	-0.282000	0.10007	CAG	-	ITPR1	-	NULL		0.542	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	0	0	0	46	46	68	0.00	0.00	C	NM_002222		4714890	+1	26	25	27	39	tier1	no_errors	ENST00000302640	ensembl	human	known	74_37	nonsense	49.06	38.46	SNP	1.000	T	26	27
CNGA3	1261	genome.wustl.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:99012478C>T	ENST00000272602.2	+	7	884	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F|CNGA3_ENST00000393504.1_Missense_Mutation_p.S282F|CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	282					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488													ENSG00000144191																																					0													86.0	80.0	82.0					2																	99012478		2203	4300	6503	SO:0001583	missense	0			-	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.845C>T	2.37:g.99012478C>T	ENSP00000272602:p.Ser282Phe		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S282F	ENST00000272602.2	37	c.845	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	9.040	0.989360	0.18966	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	5.15	5.15	0.70609	Ion transport (1);	0.538623	0.20559	N	0.089944	D	0.95595	0.8568	L	0.58428	1.81	0.32890	D	0.51171	B;B;B	0.14012	0.009;0.002;0.006	B;B;B	0.22601	0.04;0.04;0.032	D	0.92789	0.6247	10	0.10111	T	0.7	.	13.3127	0.60388	0.0:0.8409:0.1591:0.0	.	286;264;282	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	F	282;264;282;286	ENSP00000377140:S282F;ENSP00000410070:S264F;ENSP00000272602:S282F;ENSP00000386761:S286F	ENSP00000272602:S282F	S	+	2	0	CNGA3	98378910	0.484000	0.25964	0.792000	0.32020	0.947000	0.59692	5.537000	0.67186	2.677000	0.91161	0.563000	0.77884	TCC	-	CNGA3	-	pfam_Ion_trans_dom		0.488	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	0	0	0	102	102	153	0.00	0.00	C	NM_001298		99012478	+1	8	31	53	133	tier1	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	13.11	18.90	SNP	0.519	T	8	53
SYCP1	6847	genome.wustl.edu	37	1	115466175	115466175	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:115466175C>T	ENST00000369522.3	+	21	2040				SYCP1_ENST00000369518.1_Intron	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AATAATGGATCGTATCACAAA	0.274													ENSG00000198765																																					0													22.0	23.0	23.0					1																	115466175		2175	4253	6428	SO:0001627	intron_variant	0			-	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1800+24C>T	1.37:g.115466175C>T			O14963|Q5VXJ6	R	SNP	-	NULL	ENST00000369522.3	37	NULL	CCDS879.1	1																																																																																			-	SYCP1	-	-		0.274	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	0	0	0	200	200	89	0.00	0.00	C	NM_003176		115466175	+1	125	55	109	50	tier1	no_errors	ENST00000493377	ensembl	human	known	74_37	rna	53.42	52.38	SNP	0.014	T	125	109
PDE1A	5136	genome.wustl.edu	37	2	183032974	183032974	+	Nonstop_Mutation	SNP	T	T	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:183032974T>G	ENST00000410103.1	-	15	1691	c.1608A>C	c.(1606-1608)taA>taC	p.*536Y	PDE1A_ENST00000358139.2_Nonstop_Mutation_p.*536Y|PDE1A_ENST00000351439.5_Nonstop_Mutation_p.*520Y|PDE1A_ENST00000331935.6_Intron|PDE1A_ENST00000346717.4_Intron|PDE1A_ENST00000435564.1_Intron|PDE1A_ENST00000409365.1_Intron|PDE1A_ENST00000536095.1_Intron	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	0					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTAAAGGTGTTTACTGATGAA	0.353													ENSG00000115252																																					0													96.0	93.0	94.0					2																	183032974		2203	4300	6503	SO:0001578	stop_lost	0			-		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1608A>C	2.37:g.183032974T>G			D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Nonstop_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.*536Y	ENST00000410103.1	37	c.1608	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144743	0.37825	.	.	ENSG00000115252	ENST00000351439;ENST00000410103;ENST00000358139	.	.	.	3.12	1.96	0.26148	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0642	0.14574	0.0:0.1381:0.0:0.8619	.	.	.	.	Y	520;536;536	.	.	X	-	3	2	PDE1A	182741219	0.712000	0.27916	0.102000	0.21198	0.119000	0.20118	1.266000	0.33039	0.582000	0.29556	0.533000	0.62120	TAA	-	PDE1A	-	NULL		0.353	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	0	0	0	45	45	103	0.00	0.00	T			183032974	-1	11	13	36	76	tier1	no_errors	ENST00000358139	ensembl	human	known	74_37	nonstop	22.92	14.61	SNP	0.202	G	11	36
SART3	9733	genome.wustl.edu	37	12	108939021	108939021	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:108939021G>A	ENST00000228284.3	-	4	857	c.623C>T	c.(622-624)tCc>tTc	p.S208F	SART3_ENST00000552221.1_5'Flank|SART3_ENST00000431469.2_Missense_Mutation_p.S208F	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	208					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCAAACACGGAGCGAACTTT	0.468									Porokeratosis				ENSG00000075856																																					0													140.0	123.0	128.0					12																	108939021		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	-	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.623C>T	12.37:g.108939021G>A	ENSP00000228284:p.Ser208Phe		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S208F	ENST00000228284.3	37	c.623	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.061738	0.93846	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815;ENST00000550322;ENST00000550619	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.07	5.13	0.70059	.	0.105526	0.64402	D	0.000002	T	0.58018	0.2093	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.69078	0.996;0.997;0.991;0.996	D;D;P;P	0.63597	0.916;0.916;0.804;0.851	T	0.59584	-0.7427	10	0.66056	D	0.02	-18.8904	16.8858	0.86075	0.0:0.1279:0.8721:0.0	.	156;208;208;208	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	F	208;208;156;208;76;76	ENSP00000228284:S208F;ENSP00000414453:S208F;ENSP00000449386:S208F;ENSP00000447324:S76F;ENSP00000449602:S76F	ENSP00000228284:S208F	S	-	2	0	SART3	107463151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.130000	0.64745	2.884000	0.98904	0.655000	0.94253	TCC	-	SART3	-	smart_HAT		0.468	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	0	0	0	120	120	176	0.00	0.00	G			108939021	-1	26	21	47	76	tier1	no_errors	ENST00000228284	ensembl	human	known	74_37	missense	34.67	21.65	SNP	1.000	A	26	47
RIMBP2	23504	genome.wustl.edu	37	12	130926493	130926493	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:130926493C>T	ENST00000261655.4	-	8	1516	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K	RIMBP2_ENST00000535703.1_Silent_p.K359K|RIMBP2_ENST00000536002.1_Silent_p.K359K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	451	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAACCTTCACCTTATAGGCCA	0.562													ENSG00000060709																																					0													85.0	72.0	76.0					12																	130926493		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1353G>A	12.37:g.130926493C>T			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.K451	ENST00000261655.4	37	c.1353	CCDS31925.1	12																																																																																			-	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	0	0	0	96	96	123	0.00	0.00	C	NM_015347		130926493	-1	20	15	39	42	tier1	no_errors	ENST00000261655	ensembl	human	known	74_37	silent	33.90	26.32	SNP	1.000	T	20	39
CFAP61	26074	genome.wustl.edu	37	20	20322481	20322481	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:20322481C>T	ENST00000245957.5	+	26	3505	c.3429C>T	c.(3427-3429)ttC>ttT	p.F1143F	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1143										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCAGCTACTTCACCGAGCCGT	0.433													ENSG00000089101																																					0													107.0	98.0	102.0					20																	20322481		2203	4300	6503	SO:0001819	synonymous_variant	0			-																												ENST00000245957.5:c.3429C>T	20.37:g.20322481C>T			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	superfamily_Acyl_CoA_acyltransferase	p.F1143	ENST00000245957.5	37	c.3429	CCDS33447.1	20																																																																																			-	C20orf26	-	NULL		0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	0	0	0	62	62	144	0.00	0.00	C			20322481	+1	37	65	39	100	tier1	no_errors	ENST00000245957	ensembl	human	known	74_37	silent	48.05	39.39	SNP	0.984	T	37	39
SYT15	83849	genome.wustl.edu	37	10	46967597	46967597	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:46967597C>T	ENST00000374321.4	-	4	546	c.480G>A	c.(478-480)gaG>gaA	p.E160E	SYT15_ENST00000503753.1_Silent_p.E160E|SYT15_ENST00000374325.3_Silent_p.E160E|SYT15_ENST00000374323.4_Silent_p.E213E|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	160	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCCGCTCAGCCTCCTGCTCAT	0.627													ENSG00000204176																									Ovarian(57;1152 1428 19651 37745)												0													48.0	60.0	56.0					10																	46967597		2041	4198	6239	SO:0001819	synonymous_variant	0			-	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.480G>A	10.37:g.46967597C>T			A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E213	ENST00000374321.4	37	c.639	CCDS44376.1	10																																																																																			-	SYT15	-	superfamily_C2_dom		0.627	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT15	HGNC	protein_coding	OTTHUMT00000367008.1	0	0	0	44	44	102	0.00	0.00	C	NM_031912		46967597	-1	5	15	24	49	tier1	no_errors	ENST00000374323	ensembl	human	known	74_37	silent	17.24	22.73	SNP	1.000	T	5	24
MTG2	26164	genome.wustl.edu	37	20	60772752	60772752	+	Intron	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:60772752T>A	ENST00000370823.3	+	4	370				MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GATTTCATTTTTAAAAAATCA	0.323													ENSG00000101181																																					0																																										SO:0001627	intron_variant	0			-	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.353-156T>A	20.37:g.60772752T>A			A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	R	SNP	-	NULL	ENST00000370823.3	37	NULL	CCDS13492.1	20																																																																																			-	MTG2	-	-		0.323	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	MTG2	HGNC	protein_coding	OTTHUMT00000079989.1	0	0	0	22	22	110	0.00	0.00	T	NM_015666		60772752	+1	6	41	9	74	tier1	no_errors	ENST00000461411	ensembl	human	known	74_37	rna	40.00	35.34	SNP	0.013	A	6	9
PRAMEF7	441871	genome.wustl.edu	37	1	12979742	12979742	+	Missense_Mutation	SNP	C	C	T	rs147147641	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:12979742C>T	ENST00000361079.2	+	4	1017	c.934C>T	c.(934-936)Ctc>Ttc	p.L312F	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	312					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAAGCATCTCTCTTGGTG	0.567													ENSG00000204510																																					0													51.0	45.0	47.0					1																	12979742		1535	3214	4749	SO:0001583	missense	0			-		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.934C>T	1.37:g.12979742C>T	ENSP00000354371:p.Leu312Phe		B9EIP0	Missense_Mutation	SNP	NULL	p.L312F	ENST00000361079.2	37	c.934	CCDS30593.1	1	.	.	.	.	.	.	.	.	.	.	.	11.38	1.621031	0.28889	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.01629	4.72;4.72	1.68	-2.17	0.07059	.	0.000000	0.64402	D	0.000014	T	0.03959	0.0111	L	0.50993	1.605	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36648	-0.9739	10	0.45353	T	0.12	.	1.8044	0.03078	0.1977:0.4655:0.1947:0.1421	.	312	Q5VXH5	PRAM7_HUMAN	F	312	ENSP00000354371:L312F;ENSP00000328915:L312F	ENSP00000328915:L312F	L	+	1	0	PRAMEF7	12902329	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.480000	0.06559	-0.606000	0.05746	-1.210000	0.01631	CTC	-	PRAMEF7	-	NULL		0.567	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		0	0	0	219	219	90	0.00	0.00	C	NM_001012277		12979742	+1	80	19	214	70	tier1	no_errors	ENST00000330881	ensembl	human	known	74_37	missense	27.21	21.35	SNP	0.001	T	80	214
KCNQ5	56479	genome.wustl.edu	37	6	73904753	73904753	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:73904753G>A	ENST00000370398.1	+	14	2524	c.2415G>A	c.(2413-2415)agG>agA	p.R805R	KCNQ5_ENST00000355635.3_Silent_p.R806R|KCNQ5_ENST00000403813.2_Silent_p.R796R|KCNQ5_ENST00000342056.2_Silent_p.R824R|KCNQ5_ENST00000355194.4_Silent_p.R805R|KCNQ5_ENST00000414165.2_Silent_p.R695R|KCNQ5_ENST00000402622.2_Silent_p.R815R	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	805					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GTTCTATGAGGAAAAGCTTTG	0.483													ENSG00000185760																									GBM(142;1375 1859 14391 23261 44706)												0													152.0	120.0	130.0					6																	73904753		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2415G>A	6.37:g.73904753G>A			A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R815	ENST00000370398.1	37	c.2445	CCDS4976.1	6																																																																																			-	KCNQ5	-	NULL		0.483	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	0	0	0	61	61	121	0.00	0.00	G	NM_019842		73904753	+1	14	51	41	67	tier1	no_errors	ENST00000402622	ensembl	human	known	74_37	silent	25.45	43.22	SNP	1.000	A	14	41
PDE10A	10846	genome.wustl.edu	37	6	165846605	165846605	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:165846605G>A	ENST00000366882.1	-	8	674	c.520C>T	c.(520-522)Cca>Tca	p.P174S	PDE10A_ENST00000354448.4_Missense_Mutation_p.P174S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P184S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	174	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTACCTCTTGGAAATCGTTCA	0.368													ENSG00000112541																									Esophageal Squamous(22;308 615 5753 12038 40624)												0													86.0	83.0	84.0					6																	165846605		2203	4300	6503	SO:0001583	missense	0			-	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.520C>T	6.37:g.165846605G>A	ENSP00000355847:p.Pro174Ser		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.P184S	ENST00000366882.1	37	c.550		6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152122	0.78001	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;D;T	0.95447	-0.11;-3.71;-0.11	5.79	5.79	0.91817	GAF (2);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.987	D	0.93261	0.6643	10	0.14252	T	0.57	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	184;174	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	174;202;184;174;173	ENSP00000355847:P174S;ENSP00000438284:P202S;ENSP00000346435:P174S	ENSP00000341187:P184S	P	-	1	0	PDE10A	165766595	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	9.507000	0.97996	2.741000	0.93983	0.585000	0.79938	CCA	-	PDE10A	-	pfam_GAF,smart_GAF		0.368	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	0	0	0	79	79	120	0.00	0.00	G			165846605	-1	14	21	48	83	tier1	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	22.58	20.19	SNP	1.000	A	14	48
CYP8B1	1582	genome.wustl.edu	37	3	42916565	42916565	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:42916565C>T	ENST00000316161.4	-	1	1068	c.744G>A	c.(742-744)aaG>aaA	p.K248K	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.K248K	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	248					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGATGCCCTCCTTCTCCTGGC	0.577													ENSG00000180432																																					0													29.0	30.0	30.0					3																	42916565		2201	4289	6490	SO:0001819	synonymous_variant	0			-	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.744G>A	3.37:g.42916565C>T			B2RCY3|O75958|Q6NWT2|Q6NWT3	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.K248	ENST00000316161.4	37	c.744	CCDS2707.1	3																																																																																			-	CYP8B1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.577	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	0	0	0	63	63	63	0.00	0.00	C	NM_004391		42916565	-1	26	25	35	23	tier1	no_errors	ENST00000316161	ensembl	human	known	74_37	silent	42.62	52.08	SNP	0.521	T	26	35
USH2A	7399	genome.wustl.edu	37	1	216061968	216061968	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:216061968G>C	ENST00000307340.3	-	41	8409	c.8023C>G	c.(8023-8025)Ctc>Gtc	p.L2675V	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.L2675V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2675	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L2675V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTCGGGAGAGTCACCAGG	0.458										HNSCC(13;0.011)			ENSG00000042781																																					1	Substitution - Missense(1)	breast(1)											85.0	89.0	88.0					1																	216061968		2203	4300	6503	SO:0001583	missense	0			-	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8023C>G	1.37:g.216061968G>C	ENSP00000305941:p.Leu2675Val		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L2675V	ENST00000307340.3	37	c.8023	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876130	0.51801	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.84	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38548	N	0.001645	T	0.34716	0.0907	L	0.31664	0.95	0.37893	D	0.930786	P	0.39424	0.673	B	0.38327	0.271	T	0.16897	-1.0387	10	0.16420	T	0.52	.	6.4538	0.21918	0.2059:0.1329:0.6611:0.0	.	2675	O75445	USH2A_HUMAN	V	2675	ENSP00000305941:L2675V;ENSP00000355910:L2675V	ENSP00000305941:L2675V	L	-	1	0	USH2A	214128591	0.845000	0.29573	0.752000	0.31206	0.703000	0.40648	1.025000	0.30090	0.778000	0.33520	0.655000	0.94253	CTC	-	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	0	0	0	54	54	107	0.00	0.00	G	NM_007123		216061968	-1	9	19	31	48	tier1	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	22.50	28.36	SNP	0.991	C	9	31
ACAD11	84129	genome.wustl.edu	37	3	132337554	132337554	+	Silent	SNP	G	G	A	rs142318482		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:132337554G>A	ENST00000264990.6	-	11	2309	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	ACAD11_ENST00000355458.3_Silent_p.H446H|ACAD11_ENST00000481970.2_Silent_p.H446H|ACAD11_ENST00000545291.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	446					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CATAGTCCACGTGGCTGAGTC	0.438													ENSG00000240303	G|||	1	0.000199681	0.0	0.0	5008	,	,		14977	0.0		0.001	False		,,,				2504	0.0																0								G		0,4406		0,0,2203	82.0	78.0	80.0		1338	-0.4	1.0	3	dbSNP_134	80	6,8594	6.4+/-24.3	0,6,4294	no	coding-synonymous	ACAD11	NM_032169.4		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		446/781	132337554	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1338C>T	3.37:g.132337554G>A			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.H446	ENST00000264990.6	37	c.1338	CCDS3074.1	3																																																																																			rs142318482	ACAD11	-	pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom		0.438	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	1	1	0	135	135	117	0.74	0.00	G	NM_032169		132337554	-1	77	55	120	50	tier1	no_errors	ENST00000264990	ensembl	human	known	74_37	silent	39.09	52.38	SNP	1.000	A	77	120
TAF1L	138474	genome.wustl.edu	37	9	32634836	32634836	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:32634836C>T	ENST00000242310.4	-	1	831	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	248					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGAAAAAGTTCGGTGACACTT	0.488													ENSG00000122728																																					0													134.0	123.0	127.0					9																	32634836		2203	4300	6503	SO:0001583	missense	0			-	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.742G>A	9.37:g.32634836C>T	ENSP00000418379:p.Glu248Lys		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E248K	ENST00000242310.4	37	c.742	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742382	0.49151	.	.	ENSG00000122728	ENST00000242310	T	0.08984	3.03	1.04	1.04	0.20106	.	0.049823	0.85682	D	0.000000	T	0.07369	0.0186	M	0.66297	2.02	0.40397	D	0.979615	P	0.37612	0.602	B	0.25614	0.062	T	0.26224	-1.0109	10	0.44086	T	0.13	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	248	Q8IZX4	TAF1L_HUMAN	K	248	ENSP00000418379:E248K	ENSP00000418379:E248K	E	-	1	0	TAF1L	32624836	0.989000	0.36119	0.984000	0.44739	0.571000	0.35966	2.391000	0.44424	0.507000	0.28148	0.195000	0.17529	GAA	-	TAF1L	-	pirsf_TAF1_animal		0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	0	0	0	82	82	86	0.00	0.00	C			32634836	-1	34	30	41	32	tier1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	45.33	48.39	SNP	1.000	T	34	41
MECOM	2122	genome.wustl.edu	37	3	168806964	168806964	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:168806964C>T	ENST00000464456.1	-	14	4018	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	MECOM_ENST00000392736.3_Missense_Mutation_p.E949K|MECOM_ENST00000460814.1_Missense_Mutation_p.E940K|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128K|MECOM_ENST00000433243.2_Missense_Mutation_p.E950K|MECOM_ENST00000264674.3_Missense_Mutation_p.E1014K|MECOM_ENST00000472280.1_Missense_Mutation_p.E950K|MECOM_ENST00000468789.1_Missense_Mutation_p.E949K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TATTCTTCCTCTTTATACCTA	0.303													ENSG00000085276																																					0													66.0	65.0	65.0					3																	168806964		2203	4300	6503	SO:0001583	missense	0			-	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2818G>A	3.37:g.168806964C>T	ENSP00000419770:p.Glu940Lys		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E1128K	ENST00000464456.1	37	c.3382	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705179	0.89018	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05996	3.41;3.41;3.37;3.51;3.37;3.41;3.36;3.51	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000006	T	0.14184	0.0343	L	0.43152	1.355	0.54753	D	0.999988	B;P;B;P;D	0.59357	0.11;0.949;0.031;0.949;0.985	B;P;B;P;P	0.51615	0.018;0.675;0.005;0.675;0.628	T	0.00121	-1.2028	10	0.54805	T	0.06	-16.6973	20.0572	0.97657	0.0:1.0:0.0:0.0	.	1137;941;1128;1014;949	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	1014;949;940;950;1128;949;940;950	ENSP00000264674:E1014K;ENSP00000376493:E949K;ENSP00000419770:E940K;ENSP00000420048:E950K;ENSP00000417899:E1128K;ENSP00000419995:E949K;ENSP00000420466:E940K;ENSP00000394302:E950K	ENSP00000264674:E1014K	E	-	1	0	MECOM	170289658	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.097000	0.64542	2.826000	0.97356	0.655000	0.94253	GAG	-	MECOM	-	NULL		0.303	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	0	0	1	34	34	79	0.00	1.25	C	NM_005241, NM_004991		168806964	-1	28	37	32	40	tier1	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	46.67	48.05	SNP	1.000	T	28	32
PRKAA2	5563	genome.wustl.edu	37	1	57170103	57170103	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57170103G>A	ENST00000371244.4	+	7	1314	c.1248G>A	c.(1246-1248)atG>atA	p.M416I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	416					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ATGACATTATGGCTGAAGTTT	0.373													ENSG00000162409																																					0													91.0	94.0	93.0					1																	57170103		2203	4300	6503	SO:0001583	missense	0			-	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1248G>A	1.37:g.57170103G>A	ENSP00000360290:p.Met416Ile		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M416I	ENST00000371244.4	37	c.1248	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.056035	0.93793	.	.	ENSG00000162409	ENST00000371244	D	0.81908	-1.55	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93412	0.6769	10	0.62326	D	0.03	-28.3296	20.8794	0.99867	0.0:0.0:1.0:0.0	.	416	P54646	AAPK2_HUMAN	I	416	ENSP00000360290:M416I	ENSP00000360290:M416I	M	+	3	0	PRKAA2	56942691	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	ATG	-	PRKAA2	-	superfamily_KA1/Ssp2_C		0.373	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	0	0	0	91	91	108	0.00	0.00	G	NM_006252		57170103	+1	45	67	56	68	tier1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	44.55	49.63	SNP	1.000	A	45	56
CRTC3	64784	genome.wustl.edu	37	15	91141745	91141745	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:91141745C>T	ENST00000268184.6	+	4	355				CRTC3_ENST00000560098.1_3'UTR|CRTC3_ENST00000420329.2_Intron|CTD-3065B20.2_ENST00000558389.1_RNA|CRTC3_ENST00000558619.1_Intron			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3						energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAAGATTTTCCTGCACAGAA	0.498			T	MAML2	salivary gland mucoepidermoid								ENSG00000140577																												Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0																																										SO:0001627	intron_variant	0			-		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.352-3811C>T	15.37:g.91141745C>T			Q6DK61|Q6DK62|Q8NF38|Q9H6U2	R	SNP	-	NULL	ENST00000268184.6	37	NULL	CCDS32331.1	15																																																																																			-	CRTC3	-	-		0.498	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	0	0	0	38	38	88	0.00	0.00	C	NM_022769		91141745	+1	19	19	24	32	tier1	no_errors	ENST00000561290	ensembl	human	putative	74_37	rna	44.19	37.25	SNP	0.001	T	19	24
BAZ2A	11176	genome.wustl.edu	37	12	57005206	57005206	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:57005206G>A	ENST00000551812.1	-	7	1870				BAZ2A_ENST00000179765.5_Intron|BAZ2A_ENST00000549884.1_Intron|BAZ2A_ENST00000379441.3_Intron	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCATGCCAAGAAACATTATC	0.433													ENSG00000076108																																					0																																										SO:0001627	intron_variant	0			-	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1676+150C>T	12.37:g.57005206G>A			B3KN66|O00536|O15030|Q68DI8|Q96H26	R	SNP	-	NULL	ENST00000551812.1	37	NULL	CCDS44924.1	12																																																																																			-	BAZ2A	-	-		0.433	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	0	0	0	18	18	166	0.00	0.00	G	NM_013449		57005206	-1	5	36	6	79	tier1	no_errors	ENST00000549327	ensembl	human	known	74_37	rna	45.45	31.30	SNP	0.002	A	5	6
CUZD1	50624	genome.wustl.edu	37	10	124591959	124591959	+	Silent	SNP	C	C	T	rs201620290		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:124591959C>T	ENST00000368904.1	-	11	2608	c.1659G>A	c.(1657-1659)caG>caA	p.Q553Q	CUZD1_ENST00000392790.1_Silent_p.Q553Q|CUZD1_ENST00000545804.1_Silent_p.Q553Q					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GTGTTTCATGCTGAAATCCTA	0.363													ENSG00000138161																																					0													119.0	100.0	107.0					10																	124591959		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1659G>A	10.37:g.124591959C>T				Silent	SNP	pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom	p.Q553	ENST00000368904.1	37	c.1659	CCDS7631.1	10																																																																																			-	CUZD1	-	NULL		0.363	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	HGNC	protein_coding	OTTHUMT00000050829.2	0	0	0	62	62	79	0.00	0.00	C	NM_022034		124591959	-1	31	64	14	20	tier1	no_errors	ENST00000368904	ensembl	human	known	74_37	silent	68.89	76.19	SNP	0.000	T	31	14
EP400	57634	genome.wustl.edu	37	12	132551345	132551345	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:132551345G>A	ENST00000333577.4	+	50	8797	c.8688G>A	c.(8686-8688)caG>caA	p.Q2896Q	EP400_ENST00000389562.2_Silent_p.Q2859Q|EP400_ENST00000389561.2_Silent_p.Q2860Q|EP400_ENST00000332482.4_Silent_p.Q2823Q|EP400_ENST00000330386.6_Silent_p.Q2779Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2896					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAGCTGCAGGCGCAAGGGC	0.582													ENSG00000183495																																					0													48.0	54.0	52.0					12																	132551345		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8688G>A	12.37:g.132551345G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2896	ENST00000333577.4	37	c.8688		12																																																																																			-	EP400	-	NULL		0.582	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		0	0	0	78	78	54	0.00	0.00	G	NM_015409		132551345	+1	17	15	36	43	tier1	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	32.08	25.86	SNP	1.000	A	17	36
LIG4	3981	genome.wustl.edu	37	13	108861597	108861597	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:108861597G>C	ENST00000356922.4	-	2	2292	c.2020C>G	c.(2020-2022)Cca>Gca	p.P674A	LIG4_ENST00000405925.1_Missense_Mutation_p.P674A|LIG4_ENST00000442234.1_Missense_Mutation_p.P674A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	674	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCAGGCTTTGGCTGGCTATCT	0.383								Non-homologous end-joining					ENSG00000174405																																					0													75.0	76.0	75.0					13																	108861597		2203	4300	6503	SO:0001583	missense	0			-	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2020C>G	13.37:g.108861597G>C	ENSP00000349393:p.Pro674Ala		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_D_ligase_ATP-dep_cent,pfam_D_ligase_ATP-dep_N,pfam_D_ligase_IV,pfam_BRCT_dom,pfam_D_ligase_ATP-dep_C,superfamily_-bd_OB-fold,superfamily_BRCT_dom,superfamily_D_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_D_ligase_ATP-dep_cent,tigrfam_D_ligase_ATP-dep	p.P674A	ENST00000356922.4	37	c.2020	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	G	0.598	-0.830194	0.02734	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.79653	-1.29;-1.29;-1.29	5.69	1.29	0.21616	BRCT (4);	0.296464	0.38720	N	0.001597	T	0.72890	0.3517	L	0.56769	1.78	0.36492	D	0.868478	B	0.09022	0.002	B	0.08055	0.003	T	0.67413	-0.5677	10	0.40728	T	0.16	.	8.1984	0.31411	0.5636:0.0:0.4364:0.0	.	674	P49917	DNLI4_HUMAN	A	674	ENSP00000385955:P674A;ENSP00000402030:P674A;ENSP00000349393:P674A	ENSP00000349393:P674A	P	-	1	0	LIG4	107659598	0.998000	0.40836	0.098000	0.21074	0.032000	0.12392	0.944000	0.29043	0.299000	0.22661	-0.286000	0.09958	CCA	-	LIG4	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	0	0	0	99	99	180	0.00	0.00	G	NM_002312		108861597	-1	5	10	49	83	tier1	no_errors	ENST00000356922	ensembl	human	known	74_37	missense	9.26	10.64	SNP	0.899	C	5	49
FMN2	56776	genome.wustl.edu	37	1	240371671	240371671	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:240371671C>A	ENST00000319653.9	+	5	3789	c.3559C>A	c.(3559-3561)Ccg>Acg	p.P1187T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1187	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1330A(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATACCTCCTCCGCCCCCTCT	0.677													ENSG00000155816																																					1	Substitution - Missense(1)	NS(1)											15.0	17.0	16.0					1																	240371671		2200	4295	6495	SO:0001583	missense	0			-	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3559C>A	1.37:g.240371671C>A	ENSP00000318884:p.Pro1187Thr		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1187T	ENST00000319653.9	37	c.3559	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	c	5.625	0.300023	0.10622	.	.	ENSG00000155816	ENST00000319653	T	0.65364	-0.15	3.58	1.6	0.23607	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.71753	0.3377	M	0.80028	2.48	0.58432	D	0.999996	D	0.69078	0.997	D	0.64144	0.922	T	0.67639	-0.5619	8	.	.	.	.	3.7812	0.08682	0.194:0.5897:0.0:0.2162	.	1187	Q9NZ56	FMN2_HUMAN	T	1187	ENSP00000318884:P1187T	.	P	+	1	0	FMN2	238438294	0.996000	0.38824	0.001000	0.08648	0.008000	0.06430	3.264000	0.51553	0.189000	0.20188	0.471000	0.43371	CCG	-	FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin		0.677	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	0	0	0	142	142	40	0.00	0.00	C	XM_371352		240371671	+1	32	5	139	17	tier1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	18.71	22.73	SNP	0.668	A	32	139
EDIL3	10085	genome.wustl.edu	37	5	83362411	83362411	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:83362411C>T	ENST00000296591.5	-	7	1084	c.666G>A	c.(664-666)agG>agA	p.R222R	EDIL3_ENST00000380138.3_Silent_p.R212R|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	222	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTCTCATTTTCCTTTGCAAAT	0.338													ENSG00000164176																																					0													96.0	103.0	101.0					5																	83362411		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.666G>A	5.37:g.83362411C>T			B2R763|O43855|Q5D094|Q8N610	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R222	ENST00000296591.5	37	c.666	CCDS4062.1	5																																																																																			-	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.338	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	0	0	0	82	82	143	0.00	0.00	C	NM_005711		83362411	-1	46	34	30	35	tier1	no_errors	ENST00000296591	ensembl	human	known	74_37	silent	60.53	49.28	SNP	0.991	T	46	30
DOK6	220164	genome.wustl.edu	37	18	67231792	67231792	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:67231792C>T	ENST00000382713.5	+	2	326	c.136C>T	c.(136-138)Cca>Tca	p.P46S	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	46	PH.							p.P46S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGAAAAATTTCCAGATGAAAA	0.418													ENSG00000206052																																					1	Substitution - Missense(1)	skin(1)											68.0	69.0	69.0					18																	67231792		2203	4300	6503	SO:0001583	missense	0			-	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.136C>T	18.37:g.67231792C>T	ENSP00000372160:p.Pro46Ser		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P46S	ENST00000382713.5	37	c.136	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569795	0.28003	.	.	ENSG00000206052	ENST00000382713	T	0.74632	-0.86	6.16	6.16	0.99307	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	N	0.10972	0.075	0.80722	D	1	B	0.09022	0.002	B	0.18871	0.023	T	0.53244	-0.8466	10	0.23302	T	0.38	-11.2878	19.848	0.96722	0.0:1.0:0.0:0.0	.	46	Q6PKX4	DOK6_HUMAN	S	46	ENSP00000372160:P46S	ENSP00000372160:P46S	P	+	1	0	DOK6	65382772	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.428000	0.80296	2.937000	0.99478	0.650000	0.86243	CCA	-	DOK6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.418	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	0	0	0	63	63	122	0.00	0.00	C	NM_152721		67231792	+1	19	61	28	36	tier1	no_errors	ENST00000382713	ensembl	human	known	74_37	missense	40.43	62.89	SNP	1.000	T	19	28
ADAMTS18	170692	genome.wustl.edu	37	16	77356355	77356355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:77356355G>A	ENST00000282849.5	-	14	2459	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	681	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTTTGCATCGATCTTCCTCT	0.358													ENSG00000140873																																					0													97.0	100.0	99.0					16																	77356355		2198	4300	6498	SO:0001587	stop_gained	0			-	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2041C>T	16.37:g.77356355G>A	ENSP00000282849:p.Arg681*		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R681*	ENST00000282849.5	37	c.2041	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	G	44	10.875351	0.99482	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.78	4.77	0.60923	.	0.127143	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	11.1257	0.48317	0.0:0.0:0.6472:0.3528	.	.	.	.	X	681	.	ENSP00000282849:R681X	R	-	1	2	ADAMTS18	75913856	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.651000	0.54431	2.749000	0.94314	0.655000	0.94253	CGA	-	ADAMTS18	-	NULL		0.358	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	0	0	1	63	63	136	0.00	0.72	G			77356355	-1	25	78	35	83	tier1	no_errors	ENST00000282849	ensembl	human	known	74_37	nonsense	41.67	48.45	SNP	1.000	A	25	35
ALG11	440138	genome.wustl.edu	37	13	52598149	52598149	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:52598149G>A	ENST00000521508.1	+	3	288	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	UTP14C_ENST00000521776.2_5'Flank|ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	95					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TAGGTATCCTGAAGCAGTTTA	0.388													ENSG00000253710																																					0													69.0	69.0	69.0					13																	52598149		2203	4300	6503	SO:0001583	missense	0			-	AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"""Glycosyltransferase group 1 domain containing"""	32456	protein-coding gene	gene with protein product	"""GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"""	613666	"""asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"""			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.283G>A	13.37:g.52598149G>A	ENSP00000430236:p.Glu95Lys		A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.E95K	ENST00000521508.1	37	c.283	CCDS31977.1	13	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088598	0.36855	.	.	ENSG00000253710	ENST00000521508	T	0.80994	-1.44	6.03	3.4	0.38934	.	0.345140	0.27319	U	0.019914	T	0.61185	0.2327	N	0.13198	0.31	0.31612	N	0.651365	B	0.15930	0.015	B	0.16289	0.015	T	0.52909	-0.8512	10	0.07990	T	0.79	.	10.116	0.42591	0.2851:0.0:0.7149:0.0	.	95	Q2TAA5	ALG11_HUMAN	K	95	ENSP00000430236:E95K	ENSP00000430236:E95K	E	+	1	0	ALG11	51496150	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.065000	0.49994	0.451000	0.26802	0.555000	0.69702	GAA	-	ALG11	-	NULL		0.388	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG11	HGNC	protein_coding	OTTHUMT00000045050.1	0	0	1	64	64	99	0.00	1.00	G	NM_001004127		52598149	+1	11	33	36	59	tier1	no_errors	ENST00000521508	ensembl	human	known	74_37	missense	23.40	35.87	SNP	0.999	A	11	36
TNFRSF25	8718	genome.wustl.edu	37	1	6523083	6523083	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:6523083C>T	ENST00000356876.3	-	6	686				TNFRSF25_ENST00000348333.3_Intron|TNFRSF25_ENST00000351959.5_Intron|TNFRSF25_ENST00000377782.3_Intron|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000461703.2_5'Flank	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		ACCCGCCTCCCCTCGGTCCAT	0.657													ENSG00000215788																																					0													53.0	45.0	47.0					1																	6523083		2171	4257	6428	SO:0001627	intron_variant	0			-	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.598+48G>A	1.37:g.6523083C>T			B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	p.G223R	ENST00000356876.3	37	c.667	CCDS71.1	1																																																																																			-	TNFRSF25	-	NULL		0.657	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1	0	0	0	52	52	86	0.00	0.00	C	NM_148965		6523083	-1	19	30	18	29	tier1	no_errors	ENST00000485036	ensembl	human	known	74_37	missense	51.35	50.00	SNP	0.007	T	19	18
EGFL6	25975	genome.wustl.edu	37	X	13624542	13624542	+	Nonsense_Mutation	SNP	C	C	T	rs199619027		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:13624542C>T	ENST00000361306.1	+	6	822	c.565C>T	c.(565-567)Cga>Tga	p.R189*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.R189*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	189	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TCCCTACAATCGAAGATGTGT	0.398													ENSG00000198759																																					0													213.0	172.0	186.0					X																	13624542		2203	4300	6503	SO:0001587	stop_gained	0			-	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.565C>T	X.37:g.13624542C>T	ENSP00000355126:p.Arg189*		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Nonsense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R189*	ENST00000361306.1	37	c.565	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	C	38	7.054231	0.98032	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	.	.	.	5.14	3.33	0.38152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3316	0.60490	0.2854:0.7146:0.0:0.0	.	.	.	.	X	189	.	ENSP00000355126:R189X	R	+	1	2	EGFL6	13534463	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	2.735000	0.47377	0.379000	0.24794	0.532000	0.56150	CGA	-	EGFL6	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	0	0	0	47	47	65	0.00	0.00	C	NM_015507		13624542	+1	27	38	12	23	tier1	no_errors	ENST00000380602	ensembl	human	known	74_37	nonsense	69.23	62.30	SNP	1.000	T	27	12
BCAR1	9564	genome.wustl.edu	37	16	75269881	75269881	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:75269881A>G	ENST00000162330.5	-	5	1042	c.916T>C	c.(916-918)Tac>Cac	p.Y306H	BCAR1_ENST00000535626.2_Missense_Mutation_p.Y158H|BCAR1_ENST00000538440.2_Missense_Mutation_p.Y306H|BCAR1_ENST00000393422.2_Missense_Mutation_p.Y324H|BCAR1_ENST00000542031.2_Missense_Mutation_p.Y304H|BCAR1_ENST00000420641.3_Missense_Mutation_p.Y324H|BCAR1_ENST00000393420.6_Missense_Mutation_p.Y324H|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Missense_Mutation_p.Y352H|BCAR1_ENST00000546196.1_Missense_Mutation_p.Y277H	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	306	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAACGTCGTAGACCTGGGGG	0.632													ENSG00000050820																																					0													22.0	13.0	16.0					16																	75269881		2194	4288	6482	SO:0001583	missense	0			-	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.916T>C	16.37:g.75269881A>G	ENSP00000162330:p.Tyr306His		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.Y352H	ENST00000162330.5	37	c.1054	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991692	0.54041	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.84;0.79;0.79	4.42	4.42	0.53409	.	0.207717	0.31370	N	0.007777	T	0.68155	0.2970	M	0.80508	2.5	0.58432	D	0.999994	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.998;0.999;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.996;0.994;0.986;0.994;0.988;0.998;0.994;0.996;0.986	T	0.72414	-0.4301	10	0.62326	D	0.03	-11.4262	11.9596	0.53001	1.0:0.0:0.0:0.0	.	324;158;352;304;324;324;306;306;96	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	H	306;324;324;306;352;158;324;304;277	ENSP00000162330:Y306H;ENSP00000377074:Y324H;ENSP00000392708:Y324H;ENSP00000443841:Y306H;ENSP00000391669:Y352H;ENSP00000440370:Y158H;ENSP00000377072:Y324H;ENSP00000440415:Y304H;ENSP00000442161:Y277H	ENSP00000162330:Y306H	Y	-	1	0	BCAR1	73827382	1.000000	0.71417	0.931000	0.37212	0.244000	0.25665	8.685000	0.91246	1.785000	0.52413	0.374000	0.22700	TAC	-	BCAR1	-	NULL		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	0	0	0	17	17	56	0.00	0.00	A	NM_014567		75269881	-1	7	19	15	34	tier1	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	31.82	35.85	SNP	0.999	G	7	15
LHX2	9355	genome.wustl.edu	37	9	126794583	126794583	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:126794583C>T	ENST00000373615.4	+	5	1672				RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2						axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CTTTTTGGATCCTCTTGGCAA	0.517													ENSG00000234921																																					0																																										SO:0001627	intron_variant	0			-	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.934-116C>T	9.37:g.126794583C>T			O95860|Q52M57|Q8N1Z3	R	SNP	-	NULL	ENST00000373615.4	37	NULL	CCDS6853.1	9																																																																																			-	RP11-85O21.5	-	-		0.517	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234921	Clone_based_vega_gene	protein_coding	OTTHUMT00000054010.2	0	0	0	19	19	87	0.00	0.00	C			126794583	-1	10	46	4	26	tier1	no_errors	ENST00000429482	ensembl	human	known	74_37	rna	71.43	63.89	SNP	0.000	T	10	4
MAP7	9053	genome.wustl.edu	37	6	136667182	136667182	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:136667182C>T	ENST00000354570.3	-	17	2461	c.2051G>A	c.(2050-2052)gGt>gAt	p.G684D	MAP7_ENST00000438100.2_Missense_Mutation_p.G669D|MAP7_ENST00000432797.2_Missense_Mutation_p.G538D|MAP7_ENST00000454590.1_Missense_Mutation_p.G706D|MAP7_ENST00000544465.1_Missense_Mutation_p.G669D	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	684					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACAGATACACCATTTTCATT	0.313													ENSG00000135525																																					0													46.0	49.0	48.0					6																	136667182		2202	4300	6502	SO:0001583	missense	0			-	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2051G>A	6.37:g.136667182C>T	ENSP00000346581:p.Gly684Asp		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	pfam_MAP7	p.G706D	ENST00000354570.3	37	c.2117	CCDS5178.1	6	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405021	0.83230	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000047	T	0.18299	0.0439	M	0.63843	1.955	0.52099	D	0.999948	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;0.999;0.999;0.999;0.999	T	0.00426	-1.1746	10	0.87932	D	0	-27.8389	19.8666	0.96804	0.0:1.0:0.0:0.0	.	669;706;669;706;590;647;684	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	D	684;706;669;669;538;590	ENSP00000346581:G684D;ENSP00000414712:G706D;ENSP00000445737:G669D;ENSP00000400790:G669D;ENSP00000414879:G538D	ENSP00000344217:G590D	G	-	2	0	MAP7	136708875	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.650000	0.67944	2.702000	0.92279	0.563000	0.77884	GGT	-	MAP7	-	NULL		0.313	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	0	0	0	119	119	27	0.00	0.00	C	NM_003980		136667182	-1	37	6	55	14	tier1	no_errors	ENST00000454590	ensembl	human	known	74_37	missense	40.22	30.00	SNP	1.000	T	37	55
OR51A4	401666	genome.wustl.edu	37	11	4967671	4967671	+	Silent	SNP	G	G	A	rs147755934		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:4967671G>A	ENST00000380373.2	-	1	685	c.660C>T	c.(658-660)acC>acT	p.T220T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGGATCAGGGTGTAAGACA	0.423													ENSG00000205497																																					0								G		1,4399	2.1+/-5.4	0,1,2199	87.0	76.0	80.0		660	-6.9	0.0	11	dbSNP_134	80	0,8588		0,0,4294	no	coding-synonymous	OR51A4	NM_001005329.1		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		220/314	4967671	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	0			-	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.660C>T	11.37:g.4967671G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T220	ENST00000380373.2	37	c.660	CCDS31367.1	11																																																																																			rs147755934	OR51A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1	1	1	0	171	171	135	0.58	0.00	G	NM_001005329		4967671	-1	58	56	65	44	tier1	no_errors	ENST00000380373	ensembl	human	known	74_37	silent	47.15	56.00	SNP	0.000	A	58	65
HNRNPF	3185	genome.wustl.edu	37	10	43882742	43882742	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:43882742G>A	ENST00000544000.1	-	4	998	c.591C>T	c.(589-591)ccC>ccT	p.P197P	HNRNPF_ENST00000356053.3_Silent_p.P197P|HNRNPF_ENST00000443950.2_Silent_p.P197P|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000357065.4_Silent_p.P197P|HNRNPF_ENST00000337970.3_Silent_p.P197P	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	197					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTTCAGAGGGGGATCTGAGT	0.562													ENSG00000169813																																					0													93.0	84.0	87.0					10																	43882742		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.591C>T	10.37:g.43882742G>A			B3KM84|Q5T0N2|Q96AU2	Silent	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.P197	ENST00000544000.1	37	c.591	CCDS7204.1	10																																																																																			-	HNRNPF	-	NULL		0.562	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2	0	0	0	37	37	77	0.00	0.00	G			43882742	-1	17	35	11	34	tier1	no_errors	ENST00000337970	ensembl	human	known	74_37	silent	60.71	50.00	SNP	0.985	A	17	11
TRPM5	29850	genome.wustl.edu	37	11	2432961	2432961	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2432961G>A	ENST00000155858.6	-	17	2519	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V	TRPM5_ENST00000452833.1_Silent_p.V839V|TRPM5_ENST00000528453.1_Silent_p.V837V|TRPM5_ENST00000533060.1_Silent_p.V837V	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCATGGCGAGGACTGTGCGGC	0.627													ENSG00000070985																									NSCLC(1;49 61 17205 18850 43201)												0													61.0	59.0	60.0					11																	2432961		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2511C>T	11.37:g.2432961G>A				Silent	SNP	superfamily_Ankyrin_rpt-contain_dom	p.V839	ENST00000155858.6	37	c.2517	CCDS31340.1	11																																																																																			-	TRPM5	-	NULL		0.627	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	0	0	0	55	55	27	0.00	0.00	G	NM_014555		2432961	-1	21	9	18	12	tier1	no_errors	ENST00000452833	ensembl	human	known	74_37	silent	53.85	42.86	SNP	0.769	A	21	18
TBRG1	84897	genome.wustl.edu	37	11	124502104	124502104	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124502104A>G	ENST00000441174.3	+	9	1410	c.1206A>G	c.(1204-1206)tcA>tcG	p.S402S	TBRG1_ENST00000375005.4_Silent_p.S251S|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	402					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		AGTCTCCATCACAGGGTAGCC	0.433													ENSG00000154144																																					0													126.0	113.0	117.0					11																	124502104		2201	4299	6500	SO:0001819	synonymous_variant	0			-	AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"""nuclear interactor of ARF and MDM2"""	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.1206A>G	11.37:g.124502104A>G			Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Silent	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.S402	ENST00000441174.3	37	c.1206	CCDS8448.2	11																																																																																			-	TBRG1	-	NULL		0.433	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	0	0	0	99	99	126	0.00	0.00	A	NM_032811		124502104	+1	39	54	37	64	tier1	no_errors	ENST00000441174	ensembl	human	known	74_37	silent	50.65	45.38	SNP	0.000	G	39	37
AGXT2	64902	genome.wustl.edu	37	5	35025909	35025909	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35025909C>T	ENST00000231420.6	-	9	1122	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	308					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CGCACCAGCTCAAAGGCTTCC	0.493													ENSG00000113492																																					0													94.0	89.0	91.0					5																	35025909		2203	4300	6503	SO:0001583	missense	0			-	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.922G>A	5.37:g.35025909C>T	ENSP00000231420:p.Glu308Lys		B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.E308K	ENST00000231420.6	37	c.922	CCDS3908.1	5	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265327	0.40095	.	.	ENSG00000113492	ENST00000231420	T	0.21734	1.99	5.62	-7.44	0.01379	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.000120	0.08080	N	1.000000	T	0.13970	0.0338	L	0.31476	0.935	0.20873	N	0.999834	B;B	0.20368	0.044;0.001	B;B	0.28011	0.085;0.006	T	0.38265	-0.9669	10	0.23891	T	0.37	-22.114	11.9176	0.52774	0.0:0.1132:0.4603:0.4265	.	308;308	E9PDL7;Q9BYV1	.;AGT2_HUMAN	K	308	ENSP00000231420:E308K	ENSP00000231420:E308K	E	-	1	0	AGXT2	35061666	0.003000	0.15002	0.190000	0.23270	0.777000	0.43975	-0.979000	0.03774	-1.370000	0.02144	-0.345000	0.07892	GAG	-	AGXT2	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase		0.493	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2	HGNC	protein_coding	OTTHUMT00000207574.2	0	0	1	62	62	152	0.00	0.65	C	NM_031900		35025909	-1	17	28	55	78	tier1	no_errors	ENST00000231420	ensembl	human	known	74_37	missense	23.61	25.93	SNP	0.029	T	17	55
AKR1D1	6718	genome.wustl.edu	37	7	137801424	137801424	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:137801424G>A	ENST00000242375.3	+	0	1039				AKR1D1_ENST00000432161.1_3'UTR|AKR1D1_ENST00000411726.2_3'UTR|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1						androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	GGGAGTTCCTGAACAGATTTT	0.443													ENSG00000122787																																					0													97.0	98.0	98.0					7																	137801424		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.*16G>A	7.37:g.137801424G>A			A1L4P6|A8K060|B4DPN3|B4DPN8	R	SNP	-	NULL	ENST00000242375.3	37	NULL	CCDS5846.1	7																																																																																			-	AKR1D1	-	-		0.443	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	0	0	0	66	66	97	0.00	0.00	G	NM_005989		137801424	+1	16	20	36	42	tier1	no_errors	ENST00000468877	ensembl	human	known	74_37	rna	30.77	32.26	SNP	0.000	A	16	36
CLSTN2	64084	genome.wustl.edu	37	3	140284994	140284994	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:140284994G>A	ENST00000458420.3	+	17	2957	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	923	Glu-rich (highly acidic).				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGACGACAGCGAAGAGGAGGA	0.582										HNSCC(16;0.037)			ENSG00000158258																									GBM(45;858 913 3709 36904 37282)												0													90.0	85.0	87.0					3																	140284994		2203	4300	6503	SO:0001583	missense	0			-	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2767G>A	3.37:g.140284994G>A	ENSP00000402460:p.Glu923Lys		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E923K	ENST00000458420.3	37	c.2767	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524479	0.64747	.	.	ENSG00000158258	ENST00000458420	T	0.29142	1.58	5.59	5.59	0.84812	.	0.617550	0.18103	N	0.151603	T	0.32941	0.0846	M	0.62723	1.935	0.39929	D	0.974267	B	0.28783	0.222	B	0.21151	0.033	T	0.09952	-1.0651	9	.	.	.	-12.0896	17.0782	0.86591	0.0:0.0:1.0:0.0	.	923	Q9H4D0	CSTN2_HUMAN	K	923	ENSP00000402460:E923K	.	E	+	1	0	CLSTN2	141767684	1.000000	0.71417	0.790000	0.31976	0.667000	0.39255	9.062000	0.93920	2.619000	0.88677	0.655000	0.94253	GAA	-	CLSTN2	-	NULL		0.582	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	0	0	0	51	51	49	0.00	0.00	G	NM_022131		140284994	+1	20	18	37	38	tier1	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	35.09	32.14	SNP	1.000	A	20	37
AADACL2-AS1	101928142	genome.wustl.edu	37	3	151494614	151494614	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:151494614C>T	ENST00000483843.2	-	0	439				RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.2_ENST00000483636.1_RNA																							ACCTAAATATCATTTTCCAGA	0.303													ENSG00000240602																																					0																																												0			-																													3.37:g.151494614C>T				R	SNP	-	NULL	ENST00000483843.2	37	NULL		3																																																																																			-	RP11-64D22.2	-	-		0.303	RP11-454C18.2-001	KNOWN	basic	antisense	LOC201651	Clone_based_vega_gene	antisense	OTTHUMT00000357888.2	0	0	0	123	123	66	0.00	0.00	C			151494614	+1	68	32	87	48	tier1	no_errors	ENST00000496128	ensembl	human	known	74_37	rna	43.87	40.00	SNP	0.995	T	68	87
OBSCN	84033	genome.wustl.edu	37	1	228521410	228521410	+	Missense_Mutation	SNP	C	C	T	rs553002345		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:228521410C>T	ENST00000422127.1	+	59	16027	c.15983C>T	c.(15982-15984)tCt>tTt	p.S5328F	OBSCN_ENST00000366707.4_Missense_Mutation_p.S2962F|OBSCN_ENST00000366709.4_Missense_Mutation_p.S2447F|OBSCN_ENST00000284548.11_Missense_Mutation_p.S5328F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S6285F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5328	Ig-like 50.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGGAGGACTCTGGCCAGTAT	0.607													ENSG00000154358																																					0													41.0	48.0	45.0					1																	228521410		2070	4218	6288	SO:0001583	missense	0			-	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15983C>T	1.37:g.228521410C>T	ENSP00000409493:p.Ser5328Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S5328F	ENST00000422127.1	37	c.15983	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345509	0.41498	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.62	3.7	0.42460	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547984	0.19259	N	0.118729	T	0.67173	0.2865	M	0.80332	2.49	0.09310	N	1	P;P	0.42941	0.794;0.755	B;B	0.38428	0.273;0.179	T	0.62358	-0.6871	10	0.72032	D	0.01	.	12.4276	0.55556	0.1301:0.7376:0.1323:0.0	.	5328;5328	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	5328;5328;2962;2447	ENSP00000284548:S5328F;ENSP00000409493:S5328F;ENSP00000355668:S2962F;ENSP00000355670:S2447F	ENSP00000284548:S5328F	S	+	2	0	OBSCN	226588033	0.206000	0.23470	0.001000	0.08648	0.002000	0.02628	2.937000	0.48979	0.690000	0.31570	0.655000	0.94253	TCT	-	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like_dom		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		0	0	0	73	73	57	0.00	0.00	C	NM_052843		228521410	+1	21	20	40	37	tier1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	34.43	34.48	SNP	0.036	T	21	40
SGPP1	81537	genome.wustl.edu	37	14	64153116	64153116	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:64153116G>A	ENST00000247225.6	-	3	1127	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	345					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TCTAGAGAAGGATCTAATACT	0.448													ENSG00000126821																																					0													88.0	78.0	82.0					14																	64153116		2203	4300	6503	SO:0001583	missense	0			-	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1033C>T	14.37:g.64153116G>A	ENSP00000247225:p.Pro345Ser		B2RAH0|Q9H189	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P345S	ENST00000247225.6	37	c.1033	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812009	0.50527	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.058817	0.64402	D	0.000001	D	0.82554	0.5062	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77555	-0.2544	9	0.26408	T	0.33	-18.3662	20.6593	0.99626	0.0:0.0:1.0:0.0	.	345	Q9BX95	SGPP1_HUMAN	S	345	.	ENSP00000247225:P345S	P	-	1	0	SGPP1	63222869	1.000000	0.71417	0.858000	0.33744	0.096000	0.18686	6.097000	0.71452	2.885000	0.99019	0.655000	0.94253	CCT	-	SGPP1	-	NULL		0.448	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	HGNC	protein_coding	OTTHUMT00000072626.3	0	0	0	57	57	119	0.00	0.00	G	NM_030791		64153116	-1	11	33	70	85	tier1	no_errors	ENST00000247225	ensembl	human	known	74_37	missense	13.58	27.97	SNP	1.000	A	11	70
SLFN11	91607	genome.wustl.edu	37	17	33689777	33689777	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:33689777C>T	ENST00000394566.1	-	4	1322	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	SLFN11_ENST00000308377.4_Missense_Mutation_p.M350I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	350					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTCTGTCATCATGCCTACCC	0.483													ENSG00000172716																																					0													86.0	78.0	81.0					17																	33689777		2203	4300	6503	SO:0001583	missense	0			-	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1050G>A	17.37:g.33689777C>T	ENSP00000378067:p.Met350Ile		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.M350I	ENST00000394566.1	37	c.1050	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816306	0.32145	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.58358	0.34;0.34	4.14	3.14	0.36123	.	0.380802	0.19619	N	0.109957	T	0.45716	0.1356	M	0.78801	2.425	0.09310	N	1	P	0.36086	0.536	B	0.30401	0.115	T	0.33727	-0.9857	10	0.22109	T	0.4	.	7.9145	0.29810	0.0:0.8836:0.0:0.1164	.	350	Q7Z7L1	SLN11_HUMAN	I	350	ENSP00000312402:M350I;ENSP00000378067:M350I	ENSP00000312402:M350I	M	-	3	0	SLFN11	30713890	0.032000	0.19561	0.014000	0.15608	0.082000	0.17680	0.056000	0.14256	2.139000	0.66308	0.650000	0.86243	ATG	-	SLFN11	-	NULL		0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	0	0	0	110	110	44	0.00	0.00	C	NM_152270		33689777	-1	23	20	12	20	tier1	no_errors	ENST00000308377	ensembl	human	known	74_37	missense	65.71	50.00	SNP	0.001	T	23	12
CFAP57	149465	genome.wustl.edu	37	1	43652450	43652450	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:43652450C>T	ENST00000372492.4	+	6	1366	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	WDR65_ENST00000528956.1_Missense_Mutation_p.P348S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		348										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCTTCAGCCCCTCAGAGGA	0.507													ENSG00000243710																																					0													116.0	101.0	106.0					1																	43652450		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000372492.4:c.1042C>T	1.37:g.43652450C>T	ENSP00000361570:p.Pro348Ser		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P348S	ENST00000372492.4	37	c.1042		1	.	.	.	.	.	.	.	.	.	.	C	34	5.351066	0.95830	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.06849	4.54;3.25	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	M	0.72894	2.215	0.58432	D	0.999992	P;D	0.71674	0.866;0.998	P;D	0.72338	0.688;0.977	T	0.00549	-1.1676	10	0.59425	D	0.04	.	19.7657	0.96340	0.0:1.0:0.0:0.0	.	348;348	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	348	ENSP00000361570:P348S;ENSP00000435310:P348S	ENSP00000361570:P348S	P	+	1	0	WDR65	43425037	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.283000	0.78640	2.649000	0.89929	0.655000	0.94253	CCC	-	WDR65	-	superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.507	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	0	0	0	54	54	92	0.00	0.00	C			43652450	+1	38	61	36	62	tier1	no_errors	ENST00000528956	ensembl	human	known	74_37	missense	50.67	49.59	SNP	1.000	T	38	36
FLT1	2321	genome.wustl.edu	37	13	28942759	28942759	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:28942759G>A	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Missense_Mutation_p.P720S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	gatgacaatggtgatgatgac	0.323													ENSG00000102755																																					0													293.0	323.0	314.0					13																	28942759		692	1591	2283	SO:0001627	intron_variant	0			-	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10937C>T	13.37:g.28942759G>A			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.P720S	ENST00000282397.4	37	c.2158	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.795517	0.00617	.	.	ENSG00000102755	ENST00000541932	T	0.12672	2.66	.	.	.	.	.	.	.	.	T	0.06508	0.0167	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.04013	0.001	T	0.39375	-0.9617	6	0.24483	T	0.36	.	.	.	.	.	720	P17948-3	.	S	720	ENSP00000437631:P720S	ENSP00000437631:P720S	P	-	1	0	FLT1	27840759	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.064000	0.14437	-0.862000	0.04089	-0.844000	0.03045	CCA	-	FLT1	-	smart_Ig_sub2,pfscan_Ig-like_dom		0.323	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	0	0	0	57	57	81	0.00	0.00	G			28942759	-1	11	14	24	37	tier1	no_errors	ENST00000541932	ensembl	human	known	74_37	missense	31.43	27.45	SNP	0.001	A	11	24
OTOL1	131149	genome.wustl.edu	37	3	161221551	161221551	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:161221551C>T	ENST00000327928.4	+	4	1255	c.1255C>T	c.(1255-1257)Ctc>Ttc	p.L419F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	419	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAGAGAAACTCTCTATGGTCA	0.478													ENSG00000182447																																					0													56.0	52.0	53.0					3																	161221551		1927	4129	6056	SO:0001583	missense	0			-		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1255C>T	3.37:g.161221551C>T	ENSP00000330808:p.Leu419Phe			Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.L419F	ENST00000327928.4	37	c.1255	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	C	9.742	1.165252	0.21538	.	.	ENSG00000182447	ENST00000327928	T	0.74947	-0.89	5.24	3.42	0.39159	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	L	0.39467	1.215	0.09310	N	0.999991	D	0.89917	1.0	D	0.77557	0.99	T	0.65911	-0.6053	10	0.40728	T	0.16	.	8.3927	0.32537	0.0:0.6208:0.3002:0.079	.	419	A6NHN0	OTOL1_HUMAN	F	419	ENSP00000330808:L419F	ENSP00000330808:L419F	L	+	1	0	OTOL1	162704245	0.260000	0.24053	0.163000	0.22734	0.421000	0.31385	0.907000	0.28531	0.573000	0.29400	-0.216000	0.12614	CTC	-	OTOL1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.478	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	0	0	0	93	93	133	0.00	0.00	C	NM_001080440		161221551	+1	39	44	54	74	tier1	no_errors	ENST00000327928	ensembl	human	known	74_37	missense	41.94	37.29	SNP	0.201	T	39	54
KIAA1551	55196	genome.wustl.edu	37	12	32134659	32134659	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:32134659C>T	ENST00000312561.4	+	4	1184	c.770C>T	c.(769-771)cCa>cTa	p.P257L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	257																	TTAACTTTACCATCAAGGCAG	0.393													ENSG00000174718																																					0													75.0	76.0	76.0					12																	32134659		2203	4300	6503	SO:0001583	missense	0			-	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.770C>T	12.37:g.32134659C>T	ENSP00000310338:p.Pro257Leu		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.P257L	ENST00000312561.4	37	c.770	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	11.00	1.508896	0.27036	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05925	4.01;3.37	5.68	-11.0	0.00169	.	1.076680	0.07244	N	0.864766	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.42548	-0.9445	9	.	.	.	.	3.8958	0.09139	0.1978:0.4539:0.12:0.2282	.	257	Q9HCM1	CL035_HUMAN	L	257	ENSP00000310338:P257L;ENSP00000370442:P257L	.	P	+	2	0	C12orf35	32025926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.182000	0.09726	-1.336000	0.02238	-1.099000	0.02127	CCA	-	KIAA1551	-	NULL		0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	0	0	0	34	34	108	0.00	0.00	C	NM_018169		32134659	+1	10	15	28	77	tier1	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	26.32	16.30	SNP	0.000	T	10	28
PAX9	5083	genome.wustl.edu	37	14	37131030	37131030	+	5'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:37131030C>T	ENST00000402703.2	+	0	462				PAX9_ENST00000554201.1_5'Flank|PAX9_ENST00000361487.6_5'Flank	NM_006194.3	NP_006185.1	P55771	PAX9_HUMAN	paired box 9						cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGCGTGTCCCCAGTGAGTGAT	0.607													ENSG00000198807																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000402703.2:c.-265C>T	14.37:g.37131030C>T			Q99582|Q9UQR4	R	SNP	-	NULL	ENST00000402703.2	37	NULL	CCDS9662.1	14																																																																																			-	PAX9	-	-		0.607	PAX9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX9	HGNC	protein_coding		0	0	0	21	21	45	0.00	0.00	C			37131030	+1	6	7	14	25	tier1	no_errors	ENST00000553267	ensembl	human	putative	74_37	rna	30.00	21.88	SNP	0.133	T	6	14
TENM4	26011	genome.wustl.edu	37	11	78387281	78387281	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:78387281G>A	ENST00000278550.7	-	30	5874	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1804					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGCCGTTGTCGATGGGCAGCG	0.672													ENSG00000149256																																					0													23.0	28.0	26.0					11																	78387281		2132	4230	6362	SO:0001819	synonymous_variant	0			-	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5412C>T	11.37:g.78387281G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.I1804	ENST00000278550.7	37	c.5412	CCDS44688.1	11																																																																																			-	TENM4	-	NULL		0.672	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	0	0	0	129	129	29	0.00	0.00	G			78387281	-1	56	9	62	15	tier1	no_errors	ENST00000278550	ensembl	human	known	74_37	silent	47.46	37.50	SNP	0.150	A	56	62
TEKT1	83659	genome.wustl.edu	37	17	6719280	6719280	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:6719280C>T	ENST00000338694.2	-	4	487	c.358G>A	c.(358-360)Gag>Aag	p.E120K	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	120						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATGCGCTTCTCCCTGGCAGGG	0.542													ENSG00000167858																																					0													112.0	70.0	84.0					17																	6719280		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.357-1G>A	17.37:g.6719280C>T			D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E120K	ENST00000338694.2	37	c.358	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477597	0.84640	.	.	ENSG00000167858	ENST00000338694	T	0.02974	4.09	5.04	5.04	0.67666	.	0.465107	0.25169	N	0.032618	T	0.16981	0.0408	M	0.90977	3.165	0.80722	D	1	P	0.38597	0.639	P	0.52267	0.694	T	0.00098	-1.2069	10	0.54805	T	0.06	.	16.2605	0.82541	0.0:1.0:0.0:0.0	.	120	Q969V4	TEKT1_HUMAN	K	120	ENSP00000341346:E120K	ENSP00000341346:E120K	E	-	1	0	TEKT1	6660004	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.174000	0.42482	2.535000	0.85469	0.655000	0.94253	GAG	-	TEKT1	-	pfam_Tektin		0.542	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	0	0	0	28	28	64	0.00	0.00	C	NM_053285	Missense_Mutation	6719280	-1	13	24	16	21	tier1	no_errors	ENST00000338694	ensembl	human	known	74_37	missense	44.83	53.33	SNP	1.000	T	13	16
L3MBTL3	84456	genome.wustl.edu	37	6	130454605	130454605	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:130454605G>A	ENST00000529410.1	+	23	2454	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	RP11-73O6.3_ENST00000591297.1_RNA|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E659K|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E634K|RP11-73O6.3_ENST00000609978.1_RNA|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E659K|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E634K|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E634K|RP11-73O6.3_ENST00000415964.1_RNA			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	659					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGGTGCCCGGGAAGAACCCAC	0.537													ENSG00000198945																																					0													85.0	75.0	78.0					6																	130454605		2203	4300	6503	SO:0001583	missense	0			-	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1975G>A	6.37:g.130454605G>A	ENSP00000431962:p.Glu659Lys		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.E659K	ENST00000529410.1	37	c.1975	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974969	0.53720	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.14266	2.52;2.53;2.52;2.53;2.53;2.52	5.22	5.22	0.72569	.	0.659719	0.16063	N	0.231379	T	0.04272	0.0118	L	0.34521	1.04	0.45035	D	0.998056	B;B	0.20887	0.001;0.049	B;B	0.23275	0.002;0.045	T	0.22417	-1.0217	10	0.10902	T	0.67	.	11.7582	0.51888	0.0819:0.0:0.9181:0.0	.	634;659	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	K	659;634;659;634;634;659	ENSP00000431962:E659K;ENSP00000437185:E634K;ENSP00000354526:E659K;ENSP00000357121:E634K;ENSP00000436706:E634K;ENSP00000357118:E659K	ENSP00000354526:E659K	E	+	1	0	L3MBTL3	130496298	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.338000	0.72963	2.580000	0.87095	0.561000	0.74099	GAA	-	L3MBTL3	-	NULL		0.537	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	0	0	1	45	45	93	0.00	1.06	G	XM_027074		130454605	+1	27	34	36	45	tier1	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	42.86	43.04	SNP	1.000	A	27	36
ZBTB1	22890	genome.wustl.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:64988779C>T	ENST00000554015.1	+	4	988	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_ENST00000358738.3_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	186					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413													ENSG00000126804																																					0													69.0	73.0	71.0					14																	64988779		2203	4300	6503	SO:0001583	missense	0			-	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.557C>T	14.37:g.64988779C>T	ENSP00000451000:p.Pro186Leu		A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P186L	ENST00000554015.1	37	c.557	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751458	0.31046	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.10099	2.91;3.47;2.91	6.17	6.17	0.99709	.	0.269330	0.32819	N	0.005619	T	0.10723	0.0262	N	0.24115	0.695	0.51767	D	0.999933	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.016	T	0.09796	-1.0658	10	0.66056	D	0.02	-15.2061	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	186;186	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	L	186	ENSP00000451000:P186L;ENSP00000351587:P186L;ENSP00000378201:P186L	ENSP00000351587:P186L	P	+	2	0	ZBTB1	64058532	0.771000	0.28555	0.986000	0.45419	0.995000	0.86356	1.362000	0.34148	2.941000	0.99782	0.655000	0.94253	CCT	-	ZBTB1	-	NULL		0.413	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	0	0	0	46	46	132	0.00	0.00	C			64988779	+1	22	48	34	48	tier1	no_errors	ENST00000394712	ensembl	human	known	74_37	missense	39.29	50.00	SNP	0.950	T	22	34
VRTN	55237	genome.wustl.edu	37	14	74824866	74824866	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74824866G>A	ENST00000256362.4	+	2	1621	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	460					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGCTGCTGGGACTCCCCAGC	0.617													ENSG00000133980																																					0													35.0	39.0	38.0					14																	74824866		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1380G>A	14.37:g.74824866G>A			Q9NVC7	Silent	SNP	pfam_Transposase_8	p.G460	ENST00000256362.4	37	c.1380	CCDS9830.1	14																																																																																			-	VRTN	-	NULL		0.617	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	0	0	0	147	147	39	0.00	0.00	G	NM_018228		74824866	+1	48	19	64	22	tier1	no_errors	ENST00000256362	ensembl	human	known	74_37	silent	42.86	46.34	SNP	0.004	A	48	64
IKBIP	121457	genome.wustl.edu	37	12	99007548	99007548	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:99007548C>G	ENST00000342502.2	-	3	1279	c.868G>C	c.(868-870)Gac>Cac	p.D290H	IKBIP_ENST00000420861.1_Missense_Mutation_p.D184H|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	290					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CGGGAAAAGTCCTTCTTTAGA	0.353													ENSG00000166130																																					0													112.0	115.0	114.0					12																	99007548		2202	4300	6502	SO:0001583	missense	0			-	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.868G>C	12.37:g.99007548C>G	ENSP00000343471:p.Asp290His		Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.D290H	ENST00000342502.2	37	c.868	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210557	0.39102	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.60299	0.2;0.61	5.43	5.43	0.79202	.	.	.	.	.	T	0.65407	0.2688	L	0.31664	0.95	0.50313	D	0.999865	D	0.89917	1.0	D	0.78314	0.991	T	0.58352	-0.7651	9	0.16420	T	0.52	.	19.2334	0.93849	0.0:1.0:0.0:0.0	.	290	Q70UQ0	IKIP_HUMAN	H	290;184	ENSP00000343471:D290H;ENSP00000398023:D184H	ENSP00000343471:D290H	D	-	1	0	IKBIP	97531679	1.000000	0.71417	0.997000	0.53966	0.093000	0.18481	6.098000	0.71458	2.546000	0.85860	0.579000	0.79373	GAC	-	IKBIP	-	NULL		0.353	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	0	0	0	81	81	118	0.00	0.00	C	NM_153687		99007548	-1	21	30	42	66	tier1	no_errors	ENST00000342502	ensembl	human	known	74_37	missense	33.33	31.25	SNP	1.000	G	21	42
ATP1A2	477	genome.wustl.edu	37	1	160098533	160098533	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:160098533C>T	ENST00000361216.3	+	9	1198	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.T370I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	370					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCACGTCCACCATCTGCTCG	0.607													ENSG00000018625																																					0													130.0	107.0	115.0					1																	160098533		2203	4300	6503	SO:0001583	missense	0			-	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1109C>T	1.37:g.160098533C>T	ENSP00000354490:p.Thr370Ile		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.T370I	ENST00000361216.3	37	c.1109	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.563184|4.563184	0.86335|0.86335	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.96913	.|-4.17;-4.17	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93996|0.93996	0.8077|0.8077	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	.|B;P;B;P	.|0.36483	.|0.271;0.555;0.265;0.555	.|B;P;B;P	.|0.50049	.|0.209;0.629;0.378;0.629	D|D	0.94425|0.94425	0.7644|0.7644	5|10	.|0.45353	.|T	.|0.12	.|.	16.9484|16.9484	0.86236|0.86236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|215;370;270;370	.|B4DHD7;B1AKY9;F5GXJ7;P50993	.|.;.;.;AT1A2_HUMAN	S|I	81|215;370;370;73	.|ENSP00000354490:T370I;ENSP00000376066:T370I	.|ENSP00000354490:T370I	P|T	+|+	1|2	0|0	ATP1A2|ATP1A2	158365157|158365157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.033000|6.033000	0.70925|0.70925	2.359000|2.359000	0.80004|0.80004	0.561000|0.561000	0.74099|0.74099	CCA|ACC	-	ATP1A2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase		0.607	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	0	0	0	50	50	37	0.00	0.00	C	NM_000702		160098533	+1	18	15	23	15	tier1	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	43.90	50.00	SNP	1.000	T	18	23
DSG4	147409	genome.wustl.edu	37	18	28979507	28979507	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:28979507G>A	ENST00000308128.4	+	9	1412		c.e9+1		DSG4_ENST00000359747.4_Splice_Site|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4						anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGATGTCAGGTACTGCAACT	0.388													ENSG00000175065																																					0													101.0	103.0	102.0					18																	28979507		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1277+1G>A	18.37:g.28979507G>A			A2RUI1|Q6Y9L9|Q8IXV4	Splice_Site	SNP	-	e9+1	ENST00000308128.4	37	c.1277+1	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754921	0.31046	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3891	0.94573	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG4	27233505	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.410000	0.80065	2.649000	0.89929	0.650000	0.86243	.	-	DSG4	-	-		0.388	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	0	0	0	36	36	90	0.00	0.00	G	NM_177986	Intron	28979507	+1	10	37	3	17	tier1	no_errors	ENST00000359747	ensembl	human	known	74_37	splice_site	76.92	68.52	SNP	1.000	A	10	3
PAX4	5078	genome.wustl.edu	37	7	127253567	127253567	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:127253567A>G	ENST00000341640.2	-	5	763	c.558T>C	c.(556-558)taT>taC	p.Y186Y	PAX4_ENST00000338516.3_Silent_p.Y194Y|PAX4_ENST00000463946.1_Silent_p.Y184Y|PAX4_ENST00000378740.2_Silent_p.Y186Y	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	194					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CTGAATCAGGATACTGCCCAC	0.582													ENSG00000106331																									Ovarian(113;737 1605 7858 27720 34092)												0													64.0	65.0	65.0					7																	127253567		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.558T>C	7.37:g.127253567A>G			O95161|Q6B0H0	Silent	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.Y186	ENST00000341640.2	37	c.558	CCDS5797.1	7																																																																																			-	PAX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	0	0	0	64	64	49	0.00	0.00	A			127253567	-1	15	7	22	29	tier1	no_errors	ENST00000341640	ensembl	human	known	74_37	silent	40.54	19.44	SNP	0.993	G	15	22
ZNF81	347344	genome.wustl.edu	37	X	47705688	47705688	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:47705688C>T	ENST00000376954.1	+	3	390	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	ZNF81_ENST00000334937.4_Missense_Mutation_p.P8S|ZNF81_ENST00000338637.7_Missense_Mutation_p.P8S|ZNF81_ENST00000483520.1_3'UTR			P51508	ZNF81_HUMAN	zinc finger protein 81	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CGAGGACGCTCCCCAGCCAGG	0.552													ENSG00000197779																																					0													35.0	38.0	37.0					X																	47705688		2007	4150	6157	SO:0001583	missense	0			-	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.22C>T	X.37:g.47705688C>T	ENSP00000366153:p.Pro8Ser		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P8S	ENST00000376954.1	37	c.22	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256100	0.22965	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000334937;ENST00000376950;ENST00000399918	T;T;T;T	0.05319	3.46;3.46;4.77;5.8	3.56	-1.6	0.08426	.	.	.	.	.	T	0.03564	0.0102	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48055	-0.9068	9	0.06494	T	0.89	.	3.9279	0.09272	0.0:0.2885:0.3547:0.3568	.	8	P51508	ZNF81_HUMAN	S	8	ENSP00000366153:P8S;ENSP00000341151:P8S;ENSP00000334641:P8S;ENSP00000366149:P8S	ENSP00000334641:P8S	P	+	1	0	ZNF81	47590632	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-0.281000	0.08456	-0.538000	0.06281	-0.374000	0.07098	CCC	-	ZNF81	-	NULL		0.552	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	0	0	0	22	22	36	0.00	0.00	C	NM_007137		47705688	+1	17	20	2	14	tier1	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	89.47	58.82	SNP	0.000	T	17	2
DNAJC13	23317	genome.wustl.edu	37	3	132199252	132199252	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:132199252A>G	ENST00000260818.6	+	26	3060	c.2812A>G	c.(2812-2814)Atc>Gtc	p.I938V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	938					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAATAAGAATCCTTGTGGA	0.363													ENSG00000138246																																					0													109.0	96.0	101.0					3																	132199252		2203	4300	6503	SO:0001583	missense	0			-	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2812A>G	3.37:g.132199252A>G	ENSP00000260818:p.Ile938Val		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.I938V	ENST00000260818.6	37	c.2812	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	A	8.599	0.886488	0.17540	.	.	ENSG00000138246	ENST00000260818	D	0.95724	-3.79	5.78	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.056622	0.64402	N	0.000002	D	0.90463	0.7013	L	0.45581	1.43	0.49213	D	0.999762	B	0.02656	0.0	B	0.01281	0.0	T	0.80618	-0.1302	10	0.02654	T	1	.	9.8593	0.41105	0.8627:0.0:0.1373:0.0	.	938	O75165	DJC13_HUMAN	V	938	ENSP00000260818:I938V	ENSP00000260818:I938V	I	+	1	0	DNAJC13	133681942	1.000000	0.71417	0.962000	0.40283	0.663000	0.39108	7.257000	0.78362	0.481000	0.27557	-0.250000	0.11733	ATC	-	DJC13	-	superfamily_ARM-type_fold		0.363	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DJC13	HGNC	protein_coding	OTTHUMT00000356807.2	0	0	0	124	124	159	0.00	0.00	A	NM_015268		132199252	+1	56	67	93	94	tier1	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	37.58	41.61	SNP	1.000	G	56	93
SIK1	150094	genome.wustl.edu	37	21	44839074	44839074	+	Missense_Mutation	SNP	C	C	T	rs143953116		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:44839074C>T	ENST00000270162.6	-	11	1421	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	430			R -> W (in dbSNP:rs34164089).		cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GGGCCGGGGCCGGAACACTCC	0.667													ENSG00000142178																																					0								C	GLN/ARG	1,4367		0,1,2183	17.0	21.0	20.0		1289	-1.4	0.0	21	dbSNP_134	20	0,8582		0,0,4291	no	missense	SIK1	NM_173354.3	43	0,1,6474	TT,TC,CC		0.0,0.0229,0.0077	possibly-damaging	430/784	44839074	1,12949	2184	4291	6475	SO:0001583	missense	0			-	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1289G>A	21.37:g.44839074C>T	ENSP00000270162:p.Arg430Gln		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R430Q	ENST00000270162.6	37	c.1289	CCDS33575.1	21	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468279	0.26335	2.29E-4	0.0	ENSG00000142178	ENST00000270162	T	0.72394	-0.65	5.02	-1.4	0.08968	.	0.285645	0.36815	N	0.002390	T	0.54224	0.1845	M	0.68317	2.08	0.31262	N	0.69274	P	0.41784	0.762	B	0.27380	0.079	T	0.54036	-0.8353	10	0.46703	T	0.11	.	5.6685	0.17709	0.0:0.5096:0.1262:0.3643	.	430	P57059	SIK1_HUMAN	Q	430	ENSP00000270162:R430Q	ENSP00000270162:R430Q	R	-	2	0	SIK1	43663502	0.999000	0.42202	0.013000	0.15412	0.240000	0.25518	0.926000	0.28804	-0.691000	0.05135	0.561000	0.74099	CGG	rs143953116	SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2		0.667	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	0	0	0	94	94	19	0.00	0.00	C	NM_173354		44839074	-1	29	9	86	14	tier1	no_errors	ENST00000270162	ensembl	human	known	74_37	missense	25.22	39.13	SNP	0.999	T	29	86
LRRC28	123355	genome.wustl.edu	37	15	99892630	99892630	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:99892630A>C	ENST00000301981.3	+	7	889	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.K217Q|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.K148Q|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	217										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CATTCACCTGAAAGGCTTGCC	0.378													ENSG00000168904																																					0													168.0	154.0	159.0					15																	99892630		2197	4297	6494	SO:0001583	missense	0			-	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.649A>C	15.37:g.99892630A>C	ENSP00000304923:p.Lys217Gln		A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K217Q	ENST00000301981.3	37	c.649	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756418	0.49362	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500	T;T;T	0.32515	2.21;2.21;1.45	5.52	4.39	0.52855	.	0.141429	0.64402	D	0.000008	T	0.42404	0.1201	L	0.54323	1.7	0.80722	D	1	D;D;B	0.67145	0.991;0.996;0.18	P;P;B	0.61874	0.816;0.895;0.095	T	0.20773	-1.0265	10	0.16420	T	0.52	.	10.7686	0.46308	0.9257:0.0:0.0743:0.0	.	148;217;217	B4DHL3;Q86X40-2;Q86X40	.;.;LRC28_HUMAN	Q	217;217;148	ENSP00000304923:K217Q;ENSP00000404520:K217Q;ENSP00000398606:K148Q	ENSP00000304923:K217Q	K	+	1	0	LRRC28	97710153	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.935000	0.56560	0.923000	0.37045	0.533000	0.62120	AAA	-	LRRC28	-	NULL		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	0	0	0	125	125	75	0.00	0.00	A	NM_144598		99892630	+1	32	26	61	43	tier1	no_errors	ENST00000301981	ensembl	human	known	74_37	missense	34.41	37.68	SNP	1.000	C	32	61
PCLO	27445	genome.wustl.edu	37	7	82585580	82585580	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:82585580C>T	ENST00000333891.9	-	5	5026	c.4689G>A	c.(4687-4689)atG>atA	p.M1563I	PCLO_ENST00000423517.2_Missense_Mutation_p.M1563I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATCAGCACTCATTTCTATGA	0.423													ENSG00000186472																																					0													155.0	144.0	147.0					7																	82585580		1920	4130	6050	SO:0001583	missense	0			-	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4689G>A	7.37:g.82585580C>T	ENSP00000334319:p.Met1563Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.M1563I	ENST00000333891.9	37	c.4689	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815190	0.50527	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23147	1.92;1.93	5.26	5.26	0.73747	.	.	.	.	.	T	0.38612	0.1047	M	0.73962	2.25	0.80722	D	1	P;P	0.45902	0.868;0.868	B;B	0.44163	0.443;0.443	T	0.43814	-0.9368	9	0.87932	D	0	.	18.8645	0.92285	0.0:1.0:0.0:0.0	.	1563;1563	Q9Y6V0-5;Q9Y6V0-6	.;.	I	1494;1563;1563	ENSP00000334319:M1563I;ENSP00000388393:M1563I	ENSP00000334319:M1563I	M	-	3	0	PCLO	82423516	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.562000	0.82300	2.458000	0.83093	0.655000	0.94253	ATG	-	PCLO	-	NULL		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0	0	62	62	85	0.00	0.00	C	NM_014510		82585580	-1	10	8	26	35	tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	27.78	18.60	SNP	1.000	T	10	26
EYS	346007	genome.wustl.edu	37	6	65531597	65531597	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:65531597C>T	ENST00000370621.3	-	21	3710	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	EYS_ENST00000370616.2_Missense_Mutation_p.E1062K|EYS_ENST00000503581.1_Missense_Mutation_p.E1062K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1062	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATGGATATTCATTAATAAGT	0.284													ENSG00000188107																																					0													71.0	60.0	63.0					6																	65531597		692	1586	2278	SO:0001583	missense	0			-		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3184G>A	6.37:g.65531597C>T	ENSP00000359655:p.Glu1062Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1062K	ENST00000370621.3	37	c.3184		6	.	.	.	.	.	.	.	.	.	.	C	3.531	-0.095710	0.07010	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.87491	-2.26;-2.26;-2.26	4.63	1.85	0.25348	.	0.433839	0.16439	U	0.214368	T	0.50051	0.1593	N	0.11154	0.105	0.09310	N	0.999992	B	0.09022	0.002	B	0.09377	0.004	T	0.44937	-0.9295	10	0.13470	T	0.59	.	8.0647	0.30654	0.0:0.7438:0.0:0.2562	.	1062	Q5T1H1-1	.	K	1062	ENSP00000424243:E1062K;ENSP00000359655:E1062K;ENSP00000359650:E1062K	ENSP00000359650:E1062K	E	-	1	0	EYS	65588318	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-0.076000	0.11412	0.066000	0.16515	0.563000	0.77884	GAA	-	EYS	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.284	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	0	0	0	121	121	67	0.00	0.00	C	XM_294050		65531597	-1	40	14	84	61	tier1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	32.26	18.67	SNP	0.065	T	40	84
GOLGB1	2804	genome.wustl.edu	37	3	121414883	121414883	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121414883G>A	ENST00000340645.5	-	13	4597	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1496F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1491					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTCTTTTCGGGAAATAAGGGC	0.418													ENSG00000173230																																					0													184.0	193.0	190.0					3																	121414883		2203	4299	6502	SO:0001583	missense	0			-	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4472C>T	3.37:g.121414883G>A	ENSP00000341848:p.Ser1491Phe		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.S1491F	ENST00000340645.5	37	c.4472	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949744	0.53186	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.71934	1.55;1.53;-0.61	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000008	D	0.84465	0.5478	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.84804	0.0786	10	0.66056	D	0.02	.	18.0345	0.89296	0.0:0.0:1.0:0.0	.	1416;1455;1496;1496;1491	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	F	1491;1496;1455	ENSP00000341848:S1491F;ENSP00000377275:S1496F;ENSP00000418231:S1455F	ENSP00000341848:S1491F	S	-	2	0	GOLGB1	122897573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.647000	0.83462	2.865000	0.98341	0.655000	0.94253	TCC	-	GOLGB1	-	NULL		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	0	0	0	80	80	108	0.00	0.00	G	NM_004487		121414883	-1	22	51	69	86	tier1	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	24.18	37.23	SNP	1.000	A	22	69
CNTNAP4	85445	genome.wustl.edu	37	16	76587337	76587337	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:76587337C>T	ENST00000563764.1	+	1	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S	CNTNAP4_ENST00000307431.8_Silent_p.S1199S|CNTNAP4_ENST00000377504.4_Silent_p.S1151S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.S1203S|CNTNAP4_ENST00000478060.1_Silent_p.S1127S																							TGACTGAGTCCAGCTGTATGG	0.577													ENSG00000152910																																					0													47.0	51.0	49.0					16																	76587337		2118	4226	6344	SO:0001819	synonymous_variant	0			-																												ENST00000563764.1:c.24C>T	16.37:g.76587337C>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S1199	ENST00000563764.1	37	c.3597		16																																																																																			-	CNTP4	-	pfscan_Laminin_G		0.577	RP11-58C22.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	CNTP4	HGNC	protein_coding	OTTHUMT00000421971.1	0	0	0	55	55	50	0.00	0.00	C			76587337	+1	17	27	29	27	tier1	no_errors	ENST00000307431	ensembl	human	known	74_37	silent	36.96	50.00	SNP	1.000	T	17	29
ABCD4	5826	genome.wustl.edu	37	14	74756194	74756194	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74756194G>A	ENST00000356924.4	-	14	1591	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	ABCD4_ENST00000557554.1_5'Flank|ABCD4_ENST00000298816.7_Missense_Mutation_p.P379L|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	483	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		ACCTGAGTCGGGGTAGACCTC	0.552													ENSG00000119688																																					0													115.0	97.0	103.0					14																	74756194		2203	4300	6503	SO:0001583	missense	0			-	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1448C>T	14.37:g.74756194G>A	ENSP00000349396:p.Pro483Leu		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P483L	ENST00000356924.4	37	c.1448	CCDS9828.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.010142|4.010142	0.75046|0.75046	.|.	.|.	ENSG00000119688|ENSG00000119688	ENST00000356924;ENST00000298816|ENST00000556517	D;D|D	0.99830|0.99836	-3.59;-7.01|-7.05	5.25|5.25	5.25|5.25	0.73442|0.73442	ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99486|0.99486	0.9817|0.9817	L|L	0.33792|0.33792	1.035|1.035	0.80722|0.80722	D|D	1|1	B;D;P|.	0.61697|.	0.348;0.99;0.917|.	B;P;P|.	0.58130|.	0.283;0.833;0.649|.	D|D	0.98156|0.98156	1.0444|1.0444	10|8	0.11485|0.87932	T|D	0.65|0	.|.	19.0472|19.0472	0.93027|0.93027	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	379;483;483|.	F8W7M4;A8K5L7;O14678|.	.;.;ABCD4_HUMAN|.	L|S	483;379|95	ENSP00000349396:P483L;ENSP00000298816:P379L|ENSP00000450960:P95S	ENSP00000298816:P379L|ENSP00000432557:P167S	P|P	-|-	2|1	0|0	ABCD4|ABCD4	73825947|73825947	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.988000|0.988000	0.76386|0.76386	8.999000|8.999000	0.93557|0.93557	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	CCC|CCG	-	ABCD4	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1	0	0	0	88	88	145	0.00	0.00	G	NM_005050		74756194	-1	16	21	56	99	tier1	no_errors	ENST00000356924	ensembl	human	known	74_37	missense	22.22	17.50	SNP	1.000	A	16	56
KIAA0930	23313	genome.wustl.edu	37	22	45622164	45622164	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:45622164G>A	ENST00000336156.5	-	2	130				KIAA0930_ENST00000391627.2_Intron	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930											endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TTACAGTTAAGGAAACCGAGA	0.557													ENSG00000100364																																					0																																										SO:0001627	intron_variant	0			-	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.65-14176C>T	22.37:g.45622164G>A			B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	NULL	p.S55	ENST00000336156.5	37	c.165	CCDS33665.1	22																																																																																			-	KIAA0930	-	NULL		0.557	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	0	0	0	45	45	174	0.00	0.00	G	NM_001009880		45622164	-1	15	40	18	96	tier1	no_errors	ENST00000417906	ensembl	human	known	74_37	silent	45.45	29.41	SNP	0.038	A	15	18
HYDIN	54768	genome.wustl.edu	37	16	70913257	70913257	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:70913257A>G	ENST00000393567.2	-	62	10650	c.10500T>C	c.(10498-10500)ctT>ctC	p.L3500L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3500					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGAATGACCAAGGAGAAGCC	0.517													ENSG00000157423																																					0													8.0	8.0	8.0					16																	70913257		1773	4012	5785	SO:0001819	synonymous_variant	0			-	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10500T>C	16.37:g.70913257A>G			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.L3500	ENST00000393567.2	37	c.10500	CCDS59269.1	16																																																																																			-	HYDIN	-	NULL		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	0	0	0	65	65	38	0.00	0.00	A			70913257	-1	26	13	26	20	tier1	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	50.00	39.39	SNP	1.000	G	26	26
LOC101927285	101927285	genome.wustl.edu	37	2	59468776	59468776	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:59468776C>T	ENST00000409590.1	+	0	67				RP11-444A22.1_ENST00000606382.1_lincRNA|AC007131.2_ENST00000444001.2_lincRNA|AC007131.3_ENST00000408726.1_RNA																							gattgctgggctccaccctca	0.463													ENSG00000221653																																					0																																												0			-																													2.37:g.59468776C>T				R	SNP	-	NULL	ENST00000409590.1	37	NULL		2																																																																																			-	AC007131.3	-	-		0.463	AC007131.1-001	KNOWN	basic	lincRNA	ENSG00000221653	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000327020.2	0	0	0	52	52	54	0.00	0.00	C			59468776	-1	11	10	35	46	tier1	no_errors	ENST00000408726	ensembl	human	novel	74_37	rna	23.91	17.86	SNP	0.001	T	11	35
LMOD3	56203	genome.wustl.edu	37	3	69168854	69168854	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:69168854G>T	ENST00000420581.2	-	2	831	c.652C>A	c.(652-654)Cct>Act	p.P218T	LMOD3_ENST00000475434.1_Missense_Mutation_p.P218T|LMOD3_ENST00000489031.1_Missense_Mutation_p.P218T	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	218						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AACTTCTTAGGATCTAATTTC	0.428													ENSG00000163380																																					0													96.0	89.0	91.0					3																	69168854		1877	4106	5983	SO:0001583	missense	0			-	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.652C>A	3.37:g.69168854G>T	ENSP00000414670:p.Pro218Thr		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.P218T	ENST00000420581.2	37	c.652	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769528	0.49680	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.92965	-3.14;-3.14;-3.14	5.34	4.44	0.53790	.	0.049598	0.85682	D	0.000000	D	0.93223	0.7841	L	0.36672	1.1	0.43099	D	0.994785	D	0.89917	1.0	D	0.85130	0.997	D	0.91383	0.5129	10	0.22706	T	0.39	-10.9551	15.8868	0.79255	0.0:0.1358:0.8642:0.0	.	218	Q0VAK6	LMOD3_HUMAN	T	218	ENSP00000414670:P218T;ENSP00000417210:P218T;ENSP00000418645:P218T	ENSP00000414670:P218T	P	-	1	0	LMOD3	69251544	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	5.140000	0.64807	1.209000	0.43321	0.591000	0.81541	CCT	-	LMOD3	-	NULL		0.428	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1	0	0	1	100	100	126	0.00	0.79	G	XM_067529		69168854	-1	40	50	42	80	tier1	no_errors	ENST00000420581	ensembl	human	known	74_37	missense	48.78	38.46	SNP	0.995	T	40	42
LRP2	4036	genome.wustl.edu	37	2	170066148	170066148	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:170066148C>T	ENST00000263816.3	-	38	6569	c.6284G>A	c.(6283-6285)cGa>cAa	p.R2095Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2095					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAGTGCGTTTCGTCCTGGAAG	0.413													ENSG00000081479																																					2	Substitution - Missense(2)	skin(2)											71.0	64.0	66.0					2																	170066148		2203	4300	6503	SO:0001583	missense	0			-		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6284G>A	2.37:g.170066148C>T	ENSP00000263816:p.Arg2095Gln		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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.R2095Q	ENST00000263816.3	37	c.6284	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546578	0.65198	.	.	ENSG00000081479	ENST00000263816	D	0.91124	-2.79	5.8	5.8	0.92144	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92413	0.5939	10	0.30078	T	0.28	.	20.0545	0.97645	0.0:1.0:0.0:0.0	.	2095	P98164	LRP2_HUMAN	Q	2095	ENSP00000263816:R2095Q	ENSP00000263816:R2095Q	R	-	2	0	LRP2	169774394	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	6.050000	0.71063	2.748000	0.94277	0.655000	0.94253	CGA	-	LRP2	-	smart_LDLR_classB_rpt		0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	0	0	1	41	41	115	0.00	0.86	C	NM_004525		170066148	-1	11	20	21	76	tier1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	34.38	20.83	SNP	1.000	T	11	21
APOBEC3G	60489	genome.wustl.edu	37	22	39479792	39479792	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:39479792G>T	ENST00000407997.3	+	5	995	c.638G>T	c.(637-639)aGa>aTa	p.R213I	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R213I|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	213	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCTTGGGTCAGAGGACGGCAT	0.532													ENSG00000239713																																					0													127.0	106.0	113.0					22																	39479792		2203	4300	6503	SO:0001583	missense	0			-	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.638G>T	22.37:g.39479792G>T	ENSP00000385057:p.Arg213Ile		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R213I	ENST00000407997.3	37	c.638	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.800324	0.00611	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.58060	0.36;0.36	1.44	-2.87	0.05700	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.33000	0.0848	L	0.35341	1.055	0.09310	N	1	B	0.18310	0.027	B	0.23018	0.043	T	0.07751	-1.0756	9	0.23891	T	0.37	.	2.107	0.03694	0.1171:0.1366:0.3782:0.3681	.	213	Q9HC16	ABC3G_HUMAN	I	213	ENSP00000413376:R213I;ENSP00000385057:R213I	ENSP00000385057:R213I	R	+	2	0	APOBEC3G	37809738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.972000	0.01502	-3.770000	0.00109	-2.573000	0.00170	AGA	-	APOBEC3G	-	pfam_APOBEC_N		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	0	0	0	95	95	119	0.00	0.00	G	NM_021822		39479792	+1	32	45	50	58	tier1	no_errors	ENST00000407997	ensembl	human	known	74_37	missense	38.55	43.27	SNP	0.000	T	32	50
VASH1	22846	genome.wustl.edu	37	14	77242323	77242323	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:77242323C>T	ENST00000167106.4	+	5	1252	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000554743.1_5'Flank|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	207					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		CCACATCGTGCTGGGGGTGAA	0.637													ENSG00000071246																																					0													29.0	25.0	27.0					14																	77242323		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.619C>T	14.37:g.77242323C>T			Q96H02|Q9UBF4|Q9Y629	Silent	SNP	NULL	p.L207	ENST00000167106.4	37	c.619	CCDS9851.1	14																																																																																			-	VASH1	-	NULL		0.637	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	0	0	1	73	73	81	0.00	1.22	C	NM_014909		77242323	+1	20	19	55	80	tier1	no_errors	ENST00000167106	ensembl	human	known	74_37	silent	26.67	19.00	SNP	1.000	T	20	55
POTEE	445582	genome.wustl.edu	37	2	131976158	131976158	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:131976158G>T	ENST00000356920.5	+	1	277	c.183G>T	c.(181-183)atG>atT	p.M61I	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.M61I|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	61					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGAGCAAGATGGGCAAGTGGT	0.597													ENSG00000188219																																					0													165.0	158.0	161.0					2																	131976158		2203	4298	6501	SO:0001583	missense	0			-	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.183G>T	2.37:g.131976158G>T	ENSP00000439189:p.Met61Ile		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.M61I	ENST00000356920.5	37	c.183	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	4.645	0.119953	0.08881	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.77877	-1.13;1.5	.	.	.	.	.	.	.	.	T	0.63780	0.2540	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.55736	-0.8094	7	0.87932	D	0	.	.	.	.	.	61	Q6S8J3	POTEE_HUMAN	I	61	ENSP00000439189:M61I;ENSP00000443049:M61I	ENSP00000439189:M61I	M	+	3	0	AC131180.1	131692628	0.018000	0.18449	0.026000	0.17262	0.027000	0.11550	0.324000	0.19610	0.159000	0.19401	0.162000	0.16502	ATG	-	POTEE	-	NULL		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		0	0	0	132	132	22	0.00	0.00	G	NM_001083538		131976158	+1	37	5	72	13	tier1	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	33.94	27.78	SNP	0.029	T	37	72
UBIAD1	29914	genome.wustl.edu	37	1	11346011	11346011	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:11346011C>T	ENST00000376810.5	+	2	1166	c.840C>T	c.(838-840)acC>acT	p.T280T	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	280					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CACACTGCACCATCAGCCTGG	0.577													ENSG00000120942																																					0													239.0	182.0	201.0					1																	11346011		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.840C>T	1.37:g.11346011C>T			B3KQG3|Q53GX3|Q5THD4	Silent	SNP	pfam_UbiA_prenyltransferase	p.T280	ENST00000376810.5	37	c.840	CCDS129.1	1																																																																																			-	UBIAD1	-	pfam_UbiA_prenyltransferase		0.577	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBIAD1	HGNC	protein_coding	OTTHUMT00000005773.1	0	0	0	39	39	148	0.00	0.00	C	NM_013319		11346011	+1	10	31	31	67	tier1	no_errors	ENST00000376810	ensembl	human	known	74_37	silent	24.39	31.63	SNP	1.000	T	10	31
CACNA1S	779	genome.wustl.edu	37	1	201012494	201012494	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:201012494G>A	ENST00000362061.3	-	40	5189	c.4963C>T	c.(4963-4965)Ccc>Tcc	p.P1655S	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1636S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1655					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAGCCAGGGGGTTGGTGCGT	0.537											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000081248																																					0													219.0	174.0	190.0					1																	201012494		2203	4300	6503	SO:0001583	missense	0			-	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4963C>T	1.37:g.201012494G>A	ENSP00000355192:p.Pro1655Ser	2118	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.P1655S	ENST00000362061.3	37	c.4963	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	9.292	1.050837	0.19827	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95853	-3.83;-3.76	5.15	4.24	0.50183	.	7739.210000	0.00166	N	0.000000	D	0.92851	0.7726	L	0.39020	1.185	0.33270	D	0.560919	B	0.06786	0.001	B	0.08055	0.003	T	0.77008	-0.2747	10	0.13853	T	0.58	.	11.747	0.51825	0.087:0.0:0.913:0.0	.	1655	Q13698	CAC1S_HUMAN	S	1655;1636	ENSP00000355192:P1655S;ENSP00000356307:P1636S	ENSP00000355192:P1655S	P	-	1	0	CACNA1S	199279117	1.000000	0.71417	0.893000	0.35052	0.665000	0.39181	2.751000	0.47508	1.166000	0.42689	0.544000	0.68410	CCC	-	CAC1S	-	NULL		0.537	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC1S	HGNC	protein_coding	OTTHUMT00000087049.1	0	0	0	81	81	164	0.00	0.00	G	NM_000069		201012494	-1	19	31	75	98	tier1	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	20.21	23.66	SNP	0.982	A	19	75
MROH2B	133558	genome.wustl.edu	37	5	41005013	41005013	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:41005013C>T	ENST00000399564.4	-	36	4324	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E847K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1292																	AGGATTGGTTCCTTCATGAGC	0.493													ENSG00000171495																																					0													89.0	85.0	86.0					5																	41005013		1991	4161	6152	SO:0001583	missense	0			-		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3874G>A	5.37:g.41005013C>T	ENSP00000382476:p.Glu1292Lys		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1292K	ENST00000399564.4	37	c.3874	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024365	0.75390	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66638	-0.22;-0.22	6.0	6.0	0.97389	Armadillo-type fold (1);	3.322900	0.00424	N	0.000065	T	0.68769	0.3037	L	0.54323	1.7	0.38850	D	0.956241	B	0.30236	0.274	B	0.31751	0.135	T	0.45205	-0.9277	10	0.12766	T	0.61	.	16.0001	0.80288	0.0:1.0:0.0:0.0	.	1292	Q7Z745	HTRB2_HUMAN	K	847;997;1292	ENSP00000441504:E847K;ENSP00000382476:E1292K	ENSP00000296803:E997K	E	-	1	0	HEATR7B2	41040770	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.814000	0.55643	2.856000	0.98102	0.643000	0.83706	GAA	-	MROH2B	-	superfamily_ARM-type_fold		0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	0	0	1	48	48	129	0.00	0.77	C	NM_173489		41005013	-1	21	67	60	168	tier1	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	25.93	28.51	SNP	1.000	T	21	60
DAB1	1600	genome.wustl.edu	37	1	57480902	57480902	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57480902G>A	ENST00000371231.1	-	13	1231	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	DAB1_ENST00000420954.2_Silent_p.F364F|DAB1_ENST00000414851.2_Silent_p.F348F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.F280F|DAB1_ENST00000371236.2_Silent_p.F366F|DAB1_ENST00000371234.4_Silent_p.F366F			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	399					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGTGGGCATGAAGGCGGCTG	0.647													ENSG00000173406																																					0													82.0	72.0	75.0					1																	57480902		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1197C>T	1.37:g.57480902G>A			A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.F399	ENST00000371231.1	37	c.1197		1																																																																																			-	DAB1	-	NULL		0.647	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	0	0	0	54	54	77	0.00	0.00	G	NM_021080		57480902	-1	18	28	50	79	tier1	no_errors	ENST00000371231	ensembl	human	known	74_37	silent	26.09	26.17	SNP	1.000	A	18	50
MYH15	22989	genome.wustl.edu	37	3	108175673	108175673	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108175673C>T	ENST00000273353.3	-	20	2194	c.2138G>A	c.(2137-2139)gGg>gAg	p.G713E	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	713	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TATCCTAGTCCCTTCCAAGAC	0.433													ENSG00000144821																																					0													156.0	144.0	148.0					3																	108175673		1844	4093	5937	SO:0001583	missense	0			-	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2138G>A	3.37:g.108175673C>T	ENSP00000273353:p.Gly713Glu			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_D-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.G713E	ENST00000273353.3	37	c.2138	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830782	0.50845	.	.	ENSG00000144821	ENST00000273353	D	0.87729	-2.29	5.88	0.208	0.15221	Myosin head, motor domain (2);	.	.	.	.	D	0.94489	0.8226	H	0.97962	4.115	0.42866	D	0.994127	D	0.89917	1.0	D	0.97110	1.0	D	0.90781	0.4679	9	0.87932	D	0	.	4.8838	0.13692	0.1069:0.5911:0.1043:0.1976	.	713	Q9Y2K3	MYH15_HUMAN	E	713	ENSP00000273353:G713E	ENSP00000273353:G713E	G	-	2	0	MYH15	109658363	0.384000	0.25164	0.125000	0.21846	0.293000	0.27360	1.062000	0.30555	0.081000	0.16988	0.591000	0.81541	GGG	-	MYH15	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.433	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	0	0	1	85	85	117	0.00	0.85	C	XM_036988		108175673	-1	41	49	54	84	tier1	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	43.16	36.84	SNP	0.837	T	41	54
FAT3	120114	genome.wustl.edu	37	11	92532163	92532163	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:92532163A>G	ENST00000298047.6	+	9	6001	c.5984A>G	c.(5983-5985)aAc>aGc	p.N1995S	FAT3_ENST00000409404.2_Missense_Mutation_p.N1995S|FAT3_ENST00000525166.1_Missense_Mutation_p.N1845S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1995	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)				TCAGAGAACAACACTAACATA	0.408										TCGA Ovarian(4;0.039)			ENSG00000165323																																					0													171.0	167.0	168.0					11																	92532163		1940	4136	6076	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.5984A>G	11.37:g.92532163A>G	ENSP00000298047:p.Asn1995Ser		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.N1995S	ENST00000298047.6	37	c.5984		11	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.008766	0.00426	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01685	4.69;4.69;4.69	5.82	0.862	0.19056	.	.	.	.	.	T	0.00524	0.0017	N	0.00337	-1.62	0.40875	D	0.983941	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	9	0.02654	T	1	.	8.171	0.31254	0.2428:0.132:0.6252:0.0	.	1995	Q8TDW7-3	.	S	1995;1995;1845	ENSP00000298047:N1995S;ENSP00000387040:N1995S;ENSP00000432586:N1845S	ENSP00000298047:N1995S	N	+	2	0	FAT3	92171811	0.722000	0.28017	0.695000	0.30226	0.812000	0.45895	1.037000	0.30241	0.108000	0.17862	0.533000	0.62120	AAC	-	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.408	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		0	0	0	70	70	161	0.00	0.00	A	NM_001008781		92532163	+1	47	59	29	54	tier1	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	61.84	52.21	SNP	0.531	G	47	29
KTN1	3895	genome.wustl.edu	37	14	56137519	56137519	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:56137519G>A	ENST00000395314.3	+	35	3408	c.3340G>A	c.(3340-3342)Gag>Aag	p.E1114K	KTN1_ENST00000413890.2_Missense_Mutation_p.E1091K|KTN1_ENST00000555573.1_Missense_Mutation_p.E119K|KTN1_ENST00000416613.1_Missense_Mutation_p.E1114K|KTN1_ENST00000438792.2_Missense_Mutation_p.E1085K|KTN1_ENST00000554507.1_Missense_Mutation_p.E380K|KTN1_ENST00000395308.1_Missense_Mutation_p.E1091K|KTN1_ENST00000395311.1_Missense_Mutation_p.E1091K|KTN1_ENST00000395309.3_Missense_Mutation_p.E1114K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1114					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGGTCAGAGGAGGTTAAGGT	0.328			T	RET	papillary thryoid								ENSG00000126777																												Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													93.0	92.0	92.0					14																	56137519		2203	4300	6503	SO:0001583	missense	0			-		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3340G>A	14.37:g.56137519G>A	ENSP00000378725:p.Glu1114Lys		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.E1114K	ENST00000395314.3	37	c.3340	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190020	0.58017	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000553624;ENST00000555573	T;T;T;T;T;T;T;T;T;T	0.76316	1.28;1.28;1.28;1.28;1.28;1.28;1.28;-1.01;1.28;1.28	5.61	4.7	0.59300	.	0.236430	0.29239	N	0.012728	T	0.51227	0.1662	N	0.02011	-0.69	0.23266	N	0.998011	B;B;B;P;B;B	0.40875	0.016;0.007;0.016;0.731;0.009;0.214	B;B;B;B;B;B	0.39531	0.041;0.01;0.041;0.302;0.037;0.221	T	0.46596	-0.9180	10	0.25751	T	0.34	-10.2242	10.5209	0.44918	0.1447:0.0:0.8553:0.0	.	119;1114;380;1085;1091;1114	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;.;KTN1_HUMAN	K	1091;1114;1085;1114;1091;1091;1114;380;75;119	ENSP00000394992:E1091K;ENSP00000378720:E1114K;ENSP00000391964:E1085K;ENSP00000378725:E1114K;ENSP00000378719:E1091K;ENSP00000378722:E1091K;ENSP00000388807:E1114K;ENSP00000452073:E380K;ENSP00000452445:E75K;ENSP00000451698:E119K	ENSP00000378719:E1091K	E	+	1	0	KTN1	55207272	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.144000	0.50616	2.791000	0.96007	0.650000	0.86243	GAG	-	KTN1	-	NULL		0.328	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	0	0	0	163	163	170	0.00	0.00	G			56137519	+1	66	97	74	76	tier1	no_errors	ENST00000395309	ensembl	human	known	74_37	missense	47.14	55.75	SNP	0.997	A	66	74
FRMPD2	143162	genome.wustl.edu	37	10	49430373	49430373	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:49430373C>A	ENST00000374201.3	-	12	1740	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	FRMPD2_ENST00000305531.3_Missense_Mutation_p.G456C|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G449C	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	480	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGGTAATTGCCAAACTCAGCC	0.512													ENSG00000170324																																					0													155.0	147.0	149.0					10																	49430373		2203	4300	6503	SO:0001583	missense	0			-	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1438G>T	10.37:g.49430373C>A	ENSP00000363317:p.Gly480Cys		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.G480C	ENST00000374201.3	37	c.1438	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601290	0.66445	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.60920	0.15;0.15;0.15	5.24	5.24	0.73138	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.82637	0.5080	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.993	D	0.87651	0.2528	9	0.87932	D	0	.	16.3123	0.82883	0.0:1.0:0.0:0.0	.	456;480;449	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	C	480;456;449	ENSP00000363317:G480C;ENSP00000307079:G456C;ENSP00000384339:G449C	ENSP00000307079:G456C	G	-	1	0	FRMPD2	49100379	1.000000	0.71417	0.995000	0.50966	0.436000	0.31835	6.877000	0.75562	2.463000	0.83235	0.555000	0.69702	GGC	-	FRMPD2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.512	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	0	0	0	64	64	136	0.00	0.00	C	NM_152428		49430373	-1	20	49	18	36	tier1	no_errors	ENST00000374201	ensembl	human	known	74_37	missense	52.63	57.65	SNP	1.000	A	20	18
FBXO40	51725	genome.wustl.edu	37	3	121340681	121340681	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121340681G>A	ENST00000338040.4	+	3	819	c.405G>A	c.(403-405)aaG>aaA	p.K135K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	135					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGATCAGAAGGTCCTCTTCA	0.488													ENSG00000163833																																					0													62.0	66.0	65.0					3																	121340681		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.405G>A	3.37:g.121340681G>A			B2RAX7|Q32M70|Q9ULM5	Silent	SNP	superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.K135	ENST00000338040.4	37	c.405	CCDS33835.1	3																																																																																			-	FBXO40	-	NULL		0.488	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	0	0	0	34	34	140	0.00	0.00	G	NM_016298		121340681	+1	13	41	31	116	tier1	no_errors	ENST00000338040	ensembl	human	known	74_37	silent	29.55	26.11	SNP	1.000	A	13	31
RGS22	26166	genome.wustl.edu	37	8	101083692	101083692	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:101083692G>A	ENST00000360863.6	-	6	693	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.P167S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	167				P -> S (in Ref. 1; AAG49397). {ECO:0000305}.	positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACGATCCAGGGAGAAAAATTT	0.378													ENSG00000132554																																					0													177.0	150.0	158.0					8																	101083692		1841	4106	5947	SO:0001583	missense	0			-	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.499C>T	8.37:g.101083692G>A	ENSP00000354109:p.Pro167Ser		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.P167S	ENST00000360863.6	37	c.499	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881738	0.33255	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000520117;ENST00000519092;ENST00000519408	T;T	0.49720	0.77;0.89	4.86	3.99	0.46301	.	0.245550	0.33772	N	0.004577	T	0.46054	0.1373	M	0.72894	2.215	0.33823	D	0.629228	B;B	0.33857	0.429;0.429	B;B	0.29440	0.102;0.102	T	0.63211	-0.6688	10	0.59425	D	0.04	.	13.1862	0.59682	0.0778:0.0:0.9222:0.0	.	167;167	A8K944;Q8NE09	.;RGS22_HUMAN	S	167;167;167;86;71;71	ENSP00000354109:P167S;ENSP00000428212:P167S	ENSP00000354109:P167S	P	-	1	0	RGS22	101152868	1.000000	0.71417	0.984000	0.44739	0.428000	0.31595	4.711000	0.61881	1.191000	0.43056	0.484000	0.47621	CCC	-	RGS22	-	NULL		0.378	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	0	0	0	121	121	125	0.00	0.00	G	NM_015668		101083692	-1	36	49	90	73	tier1	no_errors	ENST00000360863	ensembl	human	known	74_37	missense	28.57	40.16	SNP	0.995	A	36	90
OR52E6	390078	genome.wustl.edu	37	11	5862326	5862326	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:5862326C>T	ENST00000329322.5	-	1	801	c.802G>A	c.(802-804)Gat>Aat	p.D268N	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.D272N	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGAATATCATGGCCAAAG	0.413													ENSG00000205409																																					0													82.0	85.0	84.0					11																	5862326		2164	4281	6445	SO:0001583	missense	0			-	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.802G>A	11.37:g.5862326C>T	ENSP00000328878:p.Asp268Asn		Q6IFF8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D272N	ENST00000329322.5	37	c.814	CCDS53597.1	11	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.973499	0.00048	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00084	8.75;8.75	3.45	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.335377	0.25236	N	0.032139	T	0.00039	0.0001	N	0.00112	-2.095	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47736	-0.9094	10	0.02654	T	1	.	0.9132	0.01299	0.1897:0.1166:0.1952:0.4986	.	268	Q96RD3	O52E6_HUMAN	N	268;272	ENSP00000328878:D268N;ENSP00000369279:D272N	ENSP00000328878:D268N	D	-	1	0	OR52E6	5818902	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.090000	0.11163	0.400000	0.25396	-0.472000	0.04984	GAT	-	OR52E6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E6	HGNC	protein_coding	OTTHUMT00000401144.1	0	0	0	68	68	90	0.00	0.00	C	NM_001005167		5862326	-1	5	10	43	78	tier1	no_errors	ENST00000379946	ensembl	human	known	74_37	missense	10.42	11.36	SNP	0.000	T	5	43
PRR26	414235	genome.wustl.edu	37	10	697090	697090	+	Missense_Mutation	SNP	G	G	A	rs576709184		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:697090G>A	ENST00000441152.2	+	3	746	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	DIP2C_ENST00000280886.6_Intron|PRR26_ENST00000381489.5_Intron			Q8N8Z3	PRR26_HUMAN	proline rich 26	195																	GGGGCCTCAGGGGCACCTCCA	0.627													ENSG00000180525	G|||	1	0.000199681	0.0	0.0014	5008	,	,		19628	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			-	AK096000		10p15.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000180525	ENSG00000180525			30724	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 108"""	C10orf108			Standard	NR_027151		Approved	FLJ38681	uc001ifr.3	Q8N8Z3	OTTHUMG00000017529	ENST00000441152.2:c.583G>A	10.37:g.697090G>A	ENSP00000414034:p.Gly195Arg			Missense_Mutation	SNP	NULL	p.G195R	ENST00000441152.2	37	c.583		10	.	.	.	.	.	.	.	.	.	.	g	8.365	0.834001	0.16820	.	.	ENSG00000180525	ENST00000441152	.	.	.	1.64	-0.754	0.11065	.	.	.	.	.	T	0.39759	0.1090	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42241	-0.9463	5	0.87932	D	0	.	7.2585	0.26189	0.0:0.5443:0.4557:0.0	.	.	.	.	R	195	.	ENSP00000414034:G195R	G	+	1	0	C10orf108	687090	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.188000	0.17018	-0.149000	0.11215	0.297000	0.19635	GGG	-	PRR26	-	NULL		0.627	PRR26-002	KNOWN	basic|appris_principal	protein_coding	PRR26	HGNC	protein_coding	OTTHUMT00000046386.1	0	0	0	13	13	39	0.00	0.00	G			697090	+1	9	17	12	21	tier1	no_errors	ENST00000441152	ensembl	human	known	74_37	missense	42.86	44.74	SNP	0.000	A	9	12
BLM	641	genome.wustl.edu	37	15	91292843	91292843	+	Silent	SNP	G	G	A	rs374578971		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:91292843G>A	ENST00000355112.3	+	3	463	c.345G>A	c.(343-345)ccG>ccA	p.P115P	BLM_ENST00000560509.1_Silent_p.P115P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	115					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCAGACTCCGAAGGAAGTTG	0.403			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				ENSG00000197299																											yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	0								G		0,4396		0,0,2198	69.0	69.0	69.0		345	-11.4	0.0	15		69	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	BLM	NM_000057.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		115/1418	91292843	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	0	Familial Cancer Database		-	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.345G>A	15.37:g.91292843G>A			Q52M96	Silent	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_D_helicase_ATP-dep_RecQ	p.P115	ENST00000355112.3	37	c.345	CCDS10363.1	15																																																																																			-	BLM	-	NULL		0.403	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	0	0	1	78	78	128	0.00	0.78	G			91292843	+1	8	15	81	104	tier1	no_errors	ENST00000355112	ensembl	human	known	74_37	silent	8.89	12.61	SNP	0.000	A	8	81
BAI3	577	genome.wustl.edu	37	6	69728293	69728293	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:69728293G>A	ENST00000370598.1	+	13	2830	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	670					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G670E(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTATCCAGGGTCAATAGAG	0.303													ENSG00000135298																																					1	Substitution - Missense(1)	lung(1)											113.0	120.0	118.0					6																	69728293		2203	4296	6499	SO:0001583	missense	0			-	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2009G>A	6.37:g.69728293G>A	ENSP00000359630:p.Gly670Glu		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G670E	ENST00000370598.1	37	c.2009	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006035	0.93287	.	.	ENSG00000135298	ENST00000370598	T	0.11604	2.76	6.08	6.08	0.98989	Domain of unknown function DUF3497 (1);	0.115766	0.64402	D	0.000020	T	0.25121	0.0610	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00361	-1.1789	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	670	O60242	BAI3_HUMAN	E	670	ENSP00000359630:G670E	ENSP00000359630:G670E	G	+	2	0	BAI3	69785014	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.226000	0.72277	2.894000	0.99253	0.591000	0.81541	GGG	-	BAI3	-	pfam_DUF3497		0.303	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	0	0	0	124	124	78	0.00	0.00	G			69728293	+1	28	39	68	42	tier1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	29.17	47.56	SNP	1.000	A	28	68
PCNT	5116	genome.wustl.edu	37	21	47836529	47836529	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:47836529G>A	ENST00000359568.5	+	30	6804	c.6697G>A	c.(6697-6699)Gac>Aac	p.D2233N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2233					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCAGGAAGGACTGGACCCT	0.692													ENSG00000160299																																					0													29.0	35.0	33.0					21																	47836529		2202	4298	6500	SO:0001583	missense	0			-	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6697G>A	21.37:g.47836529G>A	ENSP00000352572:p.Asp2233Asn		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.D2233N	ENST00000359568.5	37	c.6697	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394664	0.62066	.	.	ENSG00000160299	ENST00000359568	T	0.02682	4.2	5.38	5.38	0.77491	.	0.225469	0.22714	N	0.056539	T	0.12263	0.0298	L	0.59436	1.845	0.35452	D	0.795792	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.976	T	0.01273	-1.1399	10	0.62326	D	0.03	.	14.9819	0.71316	0.0:0.0:1.0:0.0	.	2115;2233	O95613-2;O95613	.;PCNT_HUMAN	N	2233	ENSP00000352572:D2233N	ENSP00000352572:D2233N	D	+	1	0	PCNT	46660957	1.000000	0.71417	0.977000	0.42913	0.043000	0.13939	4.693000	0.61753	2.693000	0.91896	0.655000	0.94253	GAC	-	PCNT	-	NULL		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	0	0	0	69	69	18	0.00	0.00	G	NM_006031		47836529	+1	36	2	50	14	tier1	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	41.86	12.50	SNP	0.992	A	36	50
PDPR	55066	genome.wustl.edu	37	16	70190708	70190708	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:70190708T>C	ENST00000288050.4	+	19	3523	c.2566T>C	c.(2566-2568)Tac>Cac	p.Y856H	RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Missense_Mutation_p.Y214H|PDPR_ENST00000568530.1_Missense_Mutation_p.Y856H|PDPR_ENST00000398122.3_Missense_Mutation_p.Y756H|PDPR_ENST00000542659.1_Missense_Mutation_p.Y201H	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	856					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGCCAAGCTCTACCCTGTCGC	0.577													ENSG00000090857																																					0													69.0	82.0	78.0					16																	70190708		2093	4219	6312	SO:0001583	missense	0			-		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2566T>C	16.37:g.70190708T>C	ENSP00000288050:p.Tyr856His		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.Y856H	ENST00000288050.4	37	c.2566	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	T	8.333	0.826934	0.16749	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;D	0.91011	-0.36;-0.29;-2.77	6.03	6.03	0.97812	.	0.125034	0.56097	D	0.000032	D	0.90741	0.7094	L	0.29908	0.895	0.80722	D	1	D;B	0.89917	1.0;0.014	D;B	0.85130	0.997;0.013	D	0.86371	0.1723	10	0.02654	T	1	.	15.7535	0.78005	0.0:0.0:0.0:1.0	.	523;856	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	H	856;756;523;201	ENSP00000288050:Y856H;ENSP00000381190:Y756H;ENSP00000441690:Y201H	ENSP00000205055:Y523H	Y	+	1	0	PDPR	68748209	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.951000	0.87819	2.313000	0.78055	0.455000	0.32223	TAC	-	PDPR	-	NULL		0.577	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	0	0	0	69	69	144	0.00	0.00	T	NM_017990		70190708	+1	12	29	38	116	tier1	no_errors	ENST00000288050	ensembl	human	known	74_37	missense	24.00	20.00	SNP	1.000	C	12	38
TTC25	83538	genome.wustl.edu	37	17	40091552	40091552	+	RNA	SNP	C	C	T	rs139256162		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:40091552C>T	ENST00000591658.1	+	0	265							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGGAGAGATCCCTGAAGGAT	0.532													ENSG00000204815																																					0													59.0	58.0	58.0					17																	40091552		1961	4154	6115			0			-	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091552C>T			Q6NX40|Q6PJ04|Q9H0K5	R	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289769	0.80914	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050133	0.85682	D	0.000000	T	0.74489	0.3723	L	0.40543	1.245	0.35787	D	0.822119	D;D	0.76494	0.997;0.999	D;D	0.76071	0.968;0.987	T	0.75494	-0.3298	8	0.87932	D	0	-30.7423	20.1027	0.97880	0.0:1.0:0.0:0.0	.	66;66	C9JGW6;Q96NG3	.;TTC25_HUMAN	F	66	.	ENSP00000366763:S66F	S	+	2	0	AC091172.1	37345078	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	7.243000	0.78219	2.756000	0.94617	0.655000	0.94253	TCC	-	TTC25	-	-		0.532	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	0	0	0	52	52	139	0.00	0.00	C	NM_031421		40091552	+1	33	57	10	36	tier1	no_errors	ENST00000377540	ensembl	human	known	74_37	rna	76.74	61.29	SNP	1.000	T	33	10
CCDC60	160777	genome.wustl.edu	37	12	119966427	119966427	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:119966427G>A	ENST00000327554.2	+	12	1702	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	413										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TAGGCGCCAAGAAGAGAGAGG	0.413													ENSG00000183273																																					0													209.0	199.0	202.0					12																	119966427		2203	4300	6503	SO:0001583	missense	0			-	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1237G>A	12.37:g.119966427G>A	ENSP00000333374:p.Glu413Lys			Missense_Mutation	SNP	NULL	p.E413K	ENST00000327554.2	37	c.1237	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054553	0.55218	.	.	ENSG00000183273	ENST00000327554	T	0.23950	1.88	5.42	5.42	0.78866	.	0.299346	0.27787	N	0.017849	T	0.27798	0.0684	L	0.53249	1.67	0.80722	D	1	P	0.44521	0.837	B	0.41135	0.348	T	0.02064	-1.1220	9	.	.	.	-18.1926	14.7621	0.69612	0.0:0.0:1.0:0.0	.	413	Q8IWA6	CCD60_HUMAN	K	413	ENSP00000333374:E413K	.	E	+	1	0	CCDC60	118450810	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.958000	0.63660	2.560000	0.86352	0.644000	0.83932	GAA	-	CCDC60	-	NULL		0.413	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	0	0	0	98	98	112	0.00	0.00	G	NM_178499		119966427	+1	20	23	42	48	tier1	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	32.26	32.39	SNP	1.000	A	20	42
SUN1	23353	genome.wustl.edu	37	7	857107	857107	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:857107C>T	ENST00000457378.2	+	2	250	c.14C>T	c.(13-15)tCt>tTt	p.S5F	SUN1_ENST00000389574.3_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000452783.2_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGAGGATTTCTCCCGGCTCC	0.627													ENSG00000164828																																					0																																										SO:0001583	missense	0			-	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000457378.2:c.14C>T	7.37:g.857107C>T	ENSP00000395952:p.Ser5Phe		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	pfam_SUN1	p.S5F	ENST00000457378.2	37	c.14	CCDS55078.1	7	.	.	.	.	.	.	.	.	.	.	C	9.211	1.030915	0.19590	.	.	ENSG00000164828	ENST00000457378	T	0.47869	0.83	0.225	0.225	0.15325	.	.	.	.	.	T	0.36166	0.0957	N	0.08118	0	0.09310	N	0.999997	P	0.42518	0.782	P	0.51895	0.683	T	0.29150	-1.0021	8	0.87932	D	0	.	.	.	.	.	5	F8WD13	.	F	5	ENSP00000395952:S5F	ENSP00000395952:S5F	S	+	2	0	SUN1	823633	0.005000	0.15991	0.016000	0.15963	0.016000	0.09150	-0.311000	0.08124	0.300000	0.22699	0.305000	0.20034	TCT	-	SUN1	-	NULL		0.627	SUN1-205	KNOWN	basic|CCDS	protein_coding	SUN1	HGNC	protein_coding		0	0	0	107	107	69	0.00	0.00	C	NM_025154		857107	+1	66	34	62	40	tier1	no_errors	ENST00000457378	ensembl	human	known	74_37	missense	51.56	45.95	SNP	0.017	T	66	62
KLK8	11202	genome.wustl.edu	37	19	51503485	51503485	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:51503485C>T	ENST00000600767.1	-	5	749	c.260G>A	c.(259-261)aGc>aAc	p.S87N	KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.S87N|KLK8_ENST00000391806.2_Missense_Mutation_p.S132N|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ATTCTGTAGGCTGTGGTCTCC	0.552													ENSG00000129455																																					0													204.0	200.0	201.0					19																	51503485		2203	4300	6503	SO:0001583	missense	0			-	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.260G>A	19.37:g.51503485C>T	ENSP00000472016:p.Ser87Asn		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S132N	ENST00000600767.1	37	c.395	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	C	2.317	-0.356484	0.05138	.	.	ENSG00000129455	ENST00000391806;ENST00000291726	D;D	0.92249	-3.0;-3.0	5.02	3.96	0.45880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.103731	0.43919	D	0.000501	T	0.75140	0.3809	N	0.02412	-0.56	0.80722	D	1	B;B	0.12630	0.002;0.006	B;B	0.16289	0.01;0.015	T	0.71213	-0.4659	10	0.02654	T	1	.	9.5923	0.39554	0.0:0.9019:0.0:0.0981	.	87;132	O60259;O60259-2	KLK8_HUMAN;.	N	132;87	ENSP00000375682:S132N;ENSP00000291726:S87N	ENSP00000291726:S87N	S	-	2	0	KLK8	56195297	1.000000	0.71417	0.891000	0.34965	0.623000	0.37688	0.979000	0.29500	2.592000	0.87571	0.655000	0.94253	AGC	-	KLK8	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.552	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2	0	0	0	62	62	110	0.00	0.00	C	NM_007196		51503485	-1	21	45	38	59	tier1	no_errors	ENST00000391806	ensembl	human	known	74_37	missense	35.00	43.27	SNP	0.997	T	21	38
KRT4	3851	genome.wustl.edu	37	12	53205637	53205637	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:53205637C>T	ENST00000551956.1	-	2	1079	c.587G>A	c.(586-588)aGg>aAg	p.R196K	KRT4_ENST00000293774.4_Missense_Mutation_p.R270K|KRT4_ENST00000458244.2_Missense_Mutation_p.R176K			P19013	K2C4_HUMAN	keratin 4	210	Linker 1.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TAGCTGCTTCCTCAGGACACT	0.547													ENSG00000170477																									Pancreas(190;284 2995 41444 45903)												0													113.0	117.0	116.0					12																	53205637		2024	4201	6225	SO:0001583	missense	0			-		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.587G>A	12.37:g.53205637C>T	ENSP00000448220:p.Arg196Lys		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R270K	ENST00000551956.1	37	c.809	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177536	0.38413	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.91740	-2.9;-2.9;-2.9	4.54	4.54	0.55810	Filament (1);	0.000000	0.53938	D	0.000054	D	0.90484	0.7019	L	0.58510	1.815	0.47214	D	0.999351	B	0.26935	0.164	B	0.33690	0.168	D	0.88768	0.3262	10	0.62326	D	0.03	.	12.0228	0.53352	0.0:0.9195:0.0:0.0805	.	210	P19013	K2C4_HUMAN	K	196;270;176	ENSP00000448220:R196K;ENSP00000293774:R270K;ENSP00000387904:R176K	ENSP00000293774:R270K	R	-	2	0	KRT4	51491904	1.000000	0.71417	0.998000	0.56505	0.045000	0.14185	3.252000	0.51461	2.814000	0.96858	0.655000	0.94253	AGG	-	KRT4	-	pfam_IF		0.547	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	0	0	0	64	64	103	0.00	0.00	C	NM_002272		53205637	-1	7	18	23	50	tier1	no_errors	ENST00000293774	ensembl	human	known	74_37	missense	23.33	26.47	SNP	1.000	T	7	23
ABCD4	5826	genome.wustl.edu	37	14	74756050	74756050	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74756050G>A	ENST00000356924.4	-	14	1600				ABCD4_ENST00000557554.1_5'Flank|ABCD4_ENST00000298816.7_Intron|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4						cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CAAAGGAAGAGGAGAGGAGCC	0.547													ENSG00000258559																																					0																																										SO:0001627	intron_variant	0			-	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1456+135C>T	14.37:g.74756050G>A			A8K5L7|Q6IAQ0|Q96E75	R	SNP	-	NULL	ENST00000356924.4	37	NULL	CCDS9828.1	14																																																																																			-	AC005519.4	-	-		0.547	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258559	Clone_based_vega_gene	protein_coding	OTTHUMT00000314382.1	0	0	0	31	31	102	0.00	0.00	G	NM_005050		74756050	-1	11	59	15	67	tier1	no_errors	ENST00000554532	ensembl	human	known	74_37	rna	42.31	46.46	SNP	0.008	A	11	15
KPRP	448834	genome.wustl.edu	37	1	152733505	152733505	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:152733505C>T	ENST00000606109.1	+	1	1469	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	KPRP_ENST00000368773.1_Silent_p.L481L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	481	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAATTCCCCTGCCGGCGCC	0.662													ENSG00000203786																																					0													67.0	73.0	71.0					1																	152733505		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1441C>T	1.37:g.152733505C>T				Silent	SNP	NULL	p.L481	ENST00000606109.1	37	c.1441	CCDS30862.1	1																																																																																			-	KPRP	-	NULL		0.662	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	0	0	0	27	27	53	0.00	0.00	C	NM_001025231		152733505	+1	11	8	24	18	tier1	no_errors	ENST00000368773	ensembl	human	known	74_37	silent	31.43	30.77	SNP	0.000	T	11	24
MMP1	4312	genome.wustl.edu	37	11	102666278	102666278	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:102666278G>A	ENST00000315274.6	-	5	753	c.686C>T	c.(685-687)tCt>tTt	p.S229F	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	229	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GATATCAGTAGAATGGGAGAG	0.428													ENSG00000196611																																					0													80.0	70.0	73.0					11																	102666278		2203	4299	6502	SO:0001583	missense	0			-	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.686C>T	11.37:g.102666278G>A	ENSP00000322788:p.Ser229Phe		P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.S229F	ENST00000315274.6	37	c.686	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	g	18.68	3.675146	0.67928	.	.	ENSG00000196611	ENST00000315274	T	0.27104	1.69	5.65	5.65	0.86999	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.67297	0.2878	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77683	-0.2496	10	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	229	P03956	MMP1_HUMAN	F	229	ENSP00000322788:S229F	ENSP00000322788:S229F	S	-	2	0	MMP1	102171488	1.000000	0.71417	0.992000	0.48379	0.168000	0.22595	9.209000	0.95087	2.824000	0.97209	0.655000	0.94253	TCT	-	MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A		0.428	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	0	0	0	131	131	146	0.00	0.00	G	NM_002421		102666278	-1	38	72	41	61	tier1	no_errors	ENST00000315274	ensembl	human	known	74_37	missense	48.10	54.14	SNP	1.000	A	38	41
CNTNAP2	26047	genome.wustl.edu	37	7	146825907	146825907	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:146825907G>A	ENST00000361727.3	+	7	1578	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	354	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGAAGGAAGAAATTAGAGC	0.383										HNSCC(39;0.1)			ENSG00000174469																																					0													105.0	108.0	107.0					7																	146825907		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1062G>A	7.37:g.146825907G>A			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.K354	ENST00000361727.3	37	c.1062	CCDS5889.1	7																																																																																			-	CNTP2	-	pfscan_Laminin_G		0.383	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTP2	HGNC	protein_coding	OTTHUMT00000327668.1	1	1	0	111	111	131	0.89	0.00	G			146825907	+1	21	16	59	82	tier1	no_errors	ENST00000361727	ensembl	human	known	74_37	silent	26.25	16.33	SNP	1.000	A	21	59
CECR2	27443	genome.wustl.edu	37	22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:18028909C>T	ENST00000400585.2	+	17	3878	c.3440C>T	c.(3439-3441)tCg>tTg	p.S1147L	CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1331					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGCAGAGCTCGTTGTCAGCC	0.512													ENSG00000099954																																					0													83.0	87.0	85.0					22																	18028909		1946	4144	6090	SO:0001583	missense	0			-	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3440C>T	22.37:g.18028909C>T	ENSP00000383428:p.Ser1147Leu		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S1289L	ENST00000400585.2	37	c.3866		22	.	.	.	.	.	.	.	.	.	.	C	6.746	0.506528	0.12883	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.57;1.45	4.68	2.42	0.29668	.	0.371246	0.19324	N	0.117047	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999999	P;P;P	0.48998	0.918;0.918;0.918	B;B;B	0.33799	0.17;0.17;0.17	T	0.26503	-1.0101	10	0.72032	D	0.01	-8.035	9.019	0.36188	0.0:0.7703:0.1468:0.0829	.	1331;1147;1289	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1147;1289;1290	ENSP00000383428:S1147L;ENSP00000383417:S1289L;ENSP00000262608:S1290L	ENSP00000262608:S1290L	S	+	2	0	CECR2	16408909	0.011000	0.17503	0.010000	0.14722	0.003000	0.03518	2.305000	0.43664	1.105000	0.41606	-0.266000	0.10368	TCG	-	CECR2	-	NULL		0.512	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	0	0	0	55	55	103	0.00	0.00	C	NM_031413		18028909	+1	26	16	36	70	tier1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	41.94	18.60	SNP	0.031	T	26	36
RGL4	266747	genome.wustl.edu	37	22	24034331	24034331	+	Silent	SNP	G	G	A	rs148535347	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:24034331G>A	ENST00000290691.5	+	1	1284	c.114G>A	c.(112-114)acG>acA	p.T38T	AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Intron|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	38					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CAGGGCGCACGAGGGTCTGTA	0.602													ENSG00000159496	a|||	4	0.000798722	0.0023	0.0014	5008	,	,		18082	0.0		0.0	False		,,,				2504	0.0																0								G		16,4390	24.3+/-50.5	0,16,2187	101.0	95.0	97.0		114	-4.2	0.0	22	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RGL4	NM_153615.1		0,17,6486	AA,AG,GG		0.0116,0.3631,0.1307		38/474	24034331	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.114G>A	22.37:g.24034331G>A			Q495L8	Silent	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.T38	ENST00000290691.5	37	c.114	CCDS13811.1	22																																																																																			rs148535347	RGL4	-	NULL		0.602	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	0	0	0	37	37	43	0.00	0.00	G	NM_153615		24034331	+1	7	13	18	28	tier1	no_errors	ENST00000290691	ensembl	human	known	74_37	silent	28.00	31.71	SNP	0.000	A	7	18
LHCGR	3973	genome.wustl.edu	37	2	48950635	48950635	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:48950635C>A	ENST00000294954.7	-	6	517	c.496G>T	c.(496-498)Gga>Tga	p.G166*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.G166*|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.G166*|LHCGR_ENST00000403273.1_Nonsense_Mutation_p.G166*|LHCGR_ENST00000401907.1_Nonsense_Mutation_p.G166*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	166					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.G166R(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGCATTTCCTGGTATGGTG	0.363													ENSG00000138039																																					1	Substitution - Missense(1)	lung(1)											119.0	110.0	113.0					2																	48950635		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.496G>T	2.37:g.48950635C>A	ENSP00000294954:p.Gly166*		Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.G166*	ENST00000294954.7	37	c.496	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.380009	0.97520	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	.	.	.	5.62	3.83	0.44106	.	0.360553	0.32563	N	0.005939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0279	0.30448	0.0:0.709:0.1411:0.1499	.	.	.	.	X	166;166;166;166;166;132	.	.	G	-	1	0	LHCGR	48804139	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.728000	0.26013	0.860000	0.35481	0.650000	0.86243	GGA	-	LHCGR	-	NULL		0.363	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	0	0	0	55	55	119	0.00	0.00	C	NM_000233.3		48950635	-1	24	56	41	55	tier1	no_errors	ENST00000294954	ensembl	human	known	74_37	nonsense	36.92	50.45	SNP	1.000	A	24	41
CCR4	1233	genome.wustl.edu	37	3	32995836	32995836	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:32995836G>A	ENST00000330953.5	+	2	1090	c.922G>A	c.(922-924)Ggg>Agg	p.G308R		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	308					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTTTTTTCTGGGGGAGAAATT	0.468													ENSG00000183813																																					0													64.0	69.0	67.0					3																	32995836		2203	4300	6503	SO:0001583	missense	0			-	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.922G>A	3.37:g.32995836G>A	ENSP00000332659:p.Gly308Arg		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.G308R	ENST00000330953.5	37	c.922	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778131	0.90195	.	.	ENSG00000183813	ENST00000330953	T	0.28255	1.62	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000015	T	0.63034	0.2477	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67150	-0.5743	10	0.72032	D	0.01	.	19.497	0.95077	0.0:0.0:1.0:0.0	.	308	P51679	CCR4_HUMAN	R	308	ENSP00000332659:G308R	ENSP00000332659:G308R	G	+	1	0	CCR4	32970840	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.706000	0.92434	0.563000	0.77884	GGG	-	CCR4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	0	0	0	44	44	116	0.00	0.00	G			32995836	+1	10	66	32	76	tier1	no_errors	ENST00000330953	ensembl	human	known	74_37	missense	23.81	46.48	SNP	1.000	A	10	32
IMPDH1	3614	genome.wustl.edu	37	7	128034581	128034581	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:128034581G>A	ENST00000480861.1	-	12	1430	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	IMPDH1_ENST00000378717.4_Silent_p.F472F|IMPDH1_ENST00000343214.4_Silent_p.F431F|IMPDH1_ENST00000419067.2_Silent_p.F508F|IMPDH1_ENST00000354269.5_Silent_p.F531F|IMPDH1_ENST00000338791.6_Silent_p.F541F|IMPDH1_ENST00000348127.6_Silent_p.F505F|IMPDH1_ENST00000470772.1_Silent_p.F455F|IMPDH1_ENST00000496200.1_Silent_p.F431F	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						GGTAGGGCACGAACTTCTGAA	0.607													ENSG00000106348																																					0													91.0	87.0	88.0					7																	128034581		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1353C>T	7.37:g.128034581G>A				Silent	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.F541	ENST00000480861.1	37	c.1623	CCDS55161.1	7																																																																																			-	IMPDH1	-	pfam_IMP_DH_GMPRt,tigrfam_IMP_DH		0.607	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	0	0	0	84	84	16	0.00	0.00	G	NM_000883		128034581	-1	18	7	46	16	tier1	no_errors	ENST00000338791	ensembl	human	known	74_37	silent	28.12	30.43	SNP	0.997	A	18	46
MADD	8567	genome.wustl.edu	37	11	47303157	47303157	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:47303157C>T	ENST00000311027.5	+	8	1487	c.1322C>T	c.(1321-1323)cCc>cTc	p.P441L	MADD_ENST00000395336.3_Missense_Mutation_p.P441L|MADD_ENST00000395344.3_Missense_Mutation_p.P441L|MADD_ENST00000402799.1_Missense_Mutation_p.P441L|MADD_ENST00000406482.1_Missense_Mutation_p.P441L|MADD_ENST00000342922.4_Missense_Mutation_p.P441L|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.P441L|MADD_ENST00000407859.3_Missense_Mutation_p.P441L|MADD_ENST00000349238.3_Missense_Mutation_p.P441L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AACACCCAGCCCATCCTCAAT	0.512													ENSG00000110514																																					0													105.0	91.0	96.0					11																	47303157		2201	4298	6499	SO:0001583	missense	0			-	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1322C>T	11.37:g.47303157C>T	ENSP00000310933:p.Pro441Leu			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P441L	ENST00000311027.5	37	c.1322	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.144372	0.94603	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.06687	3.39;3.28;3.28;3.38;3.38;3.27;3.28;3.38;3.39	5.94	5.94	0.96194	.	0.051306	0.85682	D	0.000000	T	0.20659	0.0497	L	0.27053	0.805	0.80722	D	1	P;P;P;D;P;P;P;D;D;D	0.89917	0.756;0.949;0.845;0.999;0.935;0.94;0.904;1.0;0.991;0.995	B;P;P;D;P;P;P;D;P;D	0.91635	0.283;0.632;0.64;0.973;0.839;0.583;0.754;0.999;0.874;0.941	T	0.00701	-1.1603	10	0.49607	T	0.09	-14.3038	20.3633	0.98874	0.0:1.0:0.0:0.0	.	441;441;441;441;441;441;441;441;441;441	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	441	ENSP00000343902:P441L;ENSP00000385585:P441L;ENSP00000384435:P441L;ENSP00000304505:P441L;ENSP00000310933:P441L;ENSP00000384204:P441L;ENSP00000378753:P441L;ENSP00000378745:P441L;ENSP00000384287:P441L	ENSP00000310933:P441L	P	+	2	0	MADD	47259733	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.407000	0.80029	2.826000	0.97356	0.561000	0.74099	CCC	-	MADD	-	NULL		0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	0	0	0	67	67	111	0.00	0.00	C			47303157	+1	38	57	27	28	tier1	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	58.46	67.06	SNP	1.000	T	38	27
AKNAD1	254268	genome.wustl.edu	37	1	109373193	109373193	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109373193C>T	ENST00000370001.3	-	10	2094	c.1826G>A	c.(1825-1827)aGg>aAg	p.R609K	AKNAD1_ENST00000369995.3_Missense_Mutation_p.R609K|AKNAD1_ENST00000357393.4_Missense_Mutation_p.R316K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.R579K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	609						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCAAGGAGCCTGCGACAGAA	0.567													ENSG00000162641																																					0													133.0	103.0	113.0					1																	109373193		2203	4300	6503	SO:0001583	missense	0			-	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1826G>A	1.37:g.109373193C>T	ENSP00000359018:p.Arg609Lys		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.R609K	ENST00000370001.3	37	c.1826	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867818	0.72065	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.05	-5.7	0.02421	.	0.560008	0.15089	N	0.281196	T	0.04318	0.0119	L	0.53249	1.67	0.09310	N	1	B;B	0.30914	0.3;0.3	B;B	0.26094	0.066;0.039	T	0.17745	-1.0359	10	0.44086	T	0.13	0.963	2.5464	0.04738	0.1247:0.272:0.1228:0.4806	.	316;609	B4DET8;Q5T1N1	.;AKND1_HUMAN	K	609;316;579;609	ENSP00000359018:R609K;ENSP00000349968:R316K;ENSP00000359011:R579K;ENSP00000359012:R609K	ENSP00000349968:R316K	R	-	2	0	AKNAD1	109174716	0.000000	0.05858	0.000000	0.03702	0.746000	0.42486	-0.374000	0.07484	-1.322000	0.02278	-0.291000	0.09656	AGG	-	AKD1	-	NULL		0.567	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding	OTTHUMT00000030923.2	0	0	0	25	25	87	0.00	0.00	C	NM_152763		109373193	-1	7	9	38	61	tier1	no_errors	ENST00000370001	ensembl	human	known	74_37	missense	15.56	12.86	SNP	0.000	T	7	38
SCNN1G	6340	genome.wustl.edu	37	16	23197733	23197733	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23197733C>T	ENST00000300061.2	+	2	284	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	47					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCGTGGTGTCCCGCGGCCGTC	0.637													ENSG00000166828																																					0													60.0	56.0	58.0					16																	23197733		2197	4300	6497	SO:0001819	synonymous_variant	0			-	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.141C>T	16.37:g.23197733C>T			P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S47	ENST00000300061.2	37	c.141	CCDS10608.1	16																																																																																			-	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.637	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	0	0	0	44	44	65	0.00	0.00	C	NM_001039		23197733	+1	12	18	28	38	tier1	no_errors	ENST00000300061	ensembl	human	known	74_37	silent	30.00	32.14	SNP	0.998	T	12	28
OR6A2	8590	genome.wustl.edu	37	11	6816613	6816613	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:6816613G>A	ENST00000332601.3	-	1	515	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	109					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAAGCCAAGGAAAAAGTAGA	0.488													ENSG00000184933																																					0													118.0	114.0	116.0					11																	6816613		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.327C>T	11.37:g.6816613G>A			Q3MJC7|Q6IF35|Q9H206	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F109	ENST00000332601.3	37	c.327	CCDS7772.1	11																																																																																			-	OR6A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.488	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	HGNC	protein_coding	OTTHUMT00000385981.1	0	0	0	25	25	93	0.00	0.00	G	NM_003696		6816613	-1	17	50	11	29	tier1	no_errors	ENST00000332601	ensembl	human	known	74_37	silent	60.71	62.50	SNP	0.497	A	17	11
TRIM71	131405	genome.wustl.edu	37	3	32932838	32932838	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:32932838C>T	ENST00000383763.5	+	4	2205	c.2142C>T	c.(2140-2142)atC>atT	p.I714I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	714					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCAAGATCCTGGTCTCAG	0.537													ENSG00000206557																																					0													44.0	51.0	49.0					3																	32932838		2051	4191	6242	SO:0001819	synonymous_variant	0			-		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2142C>T	3.37:g.32932838C>T				Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.I714	ENST00000383763.5	37	c.2142	CCDS43060.1	3																																																																																			-	TRIM71	-	pfam_NHL_repeat,pfscan_NHL_repeat_subgr		0.537	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	0	0	0	47	47	121	0.00	0.00	C	NM_001039111		32932838	+1	18	44	28	116	tier1	no_errors	ENST00000383763	ensembl	human	known	74_37	silent	39.13	27.50	SNP	1.000	T	18	28
TIGD7	91151	genome.wustl.edu	37	16	3350197	3350197	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:3350197C>T	ENST00000396862.1	-	2	2246	c.418G>A	c.(418-420)Gga>Aga	p.G140R	TIGD7_ENST00000268674.2_Missense_Mutation_p.G140R|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	140						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCCCCACATCCTTTTCGGTTC	0.423													ENSG00000140993																																					0													122.0	119.0	120.0					16																	3350197		2197	4300	6497	SO:0001583	missense	0			-	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.418G>A	16.37:g.3350197C>T	ENSP00000380071:p.Gly140Arg		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_D-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_D-bd_dom,pfscan_HTH_Psq	p.G140R	ENST00000396862.1	37	c.418	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804556	0.31869	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.28895	1.59;1.59	5.22	4.27	0.50696	.	0.258319	0.20003	U	0.101290	T	0.15349	0.0370	N	0.08118	0	0.24784	N	0.992791	B	0.22604	0.072	B	0.21708	0.036	T	0.20174	-1.0283	10	0.23302	T	0.38	.	9.7604	0.40528	0.0:0.9041:0.0:0.0959	.	140	Q6NT04	TIGD7_HUMAN	R	140	ENSP00000380071:G140R;ENSP00000268674:G140R	ENSP00000268674:G140R	G	-	1	0	TIGD7	3290198	0.462000	0.25791	0.999000	0.59377	0.969000	0.65631	0.215000	0.17562	1.203000	0.43233	0.655000	0.94253	GGA	-	TIGD7	-	pfam_HTH_CenpB_D-bd_dom		0.423	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	0	0	0	58	58	137	0.00	0.00	C	NM_033208		3350197	-1	32	61	59	92	tier1	no_errors	ENST00000268674	ensembl	human	known	74_37	missense	35.16	39.87	SNP	0.993	T	32	59
GPATCH2L	55668	genome.wustl.edu	37	14	76620781	76620781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:76620781G>A	ENST00000261530.7	+	2	141	c.75G>A	c.(73-75)tgG>tgA	p.W25*	GPATCH2L_ENST00000312858.5_Nonsense_Mutation_p.W25*|GPATCH2L_ENST00000557263.1_Nonsense_Mutation_p.W25*|GPATCH2L_ENST00000556663.1_Nonsense_Mutation_p.W25*	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	25																	GTGAACTGTGGGAGGAGATGG	0.567													ENSG00000089916																																					0													46.0	47.0	46.0					14																	76620781		2203	4300	6503	SO:0001587	stop_gained	0			-	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.75G>A	14.37:g.76620781G>A	ENSP00000261530:p.Trp25*		B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Nonsense_Mutation	SNP	NULL	p.W25*	ENST00000261530.7	37	c.75	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.083861	0.94050	.	.	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9892	12.5773	0.56371	0.0758:0.0:0.9242:0.0	.	.	.	.	X	25	.	ENSP00000261530:W25X	W	+	3	0	C14orf118	75690534	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.380000	0.73158	2.553000	0.86117	0.561000	0.74099	TGG	-	GPATCH2L	-	NULL		0.567	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	HGNC	protein_coding	OTTHUMT00000413698.2	0	0	0	40	40	44	0.00	0.00	G	NM_017926		76620781	+1	17	34	18	30	tier1	no_errors	ENST00000261530	ensembl	human	known	74_37	nonsense	48.57	52.31	SNP	1.000	A	17	18
C17orf49	124944	genome.wustl.edu	37	17	6920345	6920345	+	Intron	SNP	C	C	T	rs372926194		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:6920345C>T	ENST00000439424.2	+	5	590				MIR497HG_ENST00000385194.1_RNA|C17orf49_ENST00000546495.1_Intron|MIR497HG_ENST00000572453.1_RNA|MIR497HG_ENST00000443997.1_RNA|C17orf49_ENST00000552775.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC040977.1_ENST00000593646.1_5'Flank|C17orf49_ENST00000546760.1_Intron|C17orf49_ENST00000552402.1_Intron|RNASEK-C17orf49_ENST00000547302.2_Intron|MIR497HG_ENST00000385056.1_RNA|C17orf49_ENST00000547709.1_Intron	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						TAGGAGTCCTCCTCCTCCCAC	0.577													ENSG00000267532																																					0													70.0	69.0	69.0					17																	6920345		2203	4300	6503	SO:0001627	intron_variant	0			-	AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.514+12C>T	17.37:g.6920345C>T			B4DIV3|C9J4G0|E9PB29	R	SNP	-	NULL	ENST00000439424.2	37	NULL	CCDS32542.1	17																																																																																			-	MIR497HG	-	-		0.577	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR497HG	HGNC	protein_coding	OTTHUMT00000407666.1	0	0	0	19	19	136	0.00	0.00	C	NM_174893		6920345	-1	9	52	3	24	tier1	no_errors	ENST00000572453	ensembl	human	known	74_37	rna	75.00	67.53	SNP	0.486	T	9	3
OR2M7	391196	genome.wustl.edu	37	1	248487739	248487739	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248487739G>A	ENST00000317965.2	-	1	160	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGAGAACCATGATGGAGTTTC	0.532													ENSG00000177186																																					0													289.0	277.0	281.0					1																	248487739		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.132C>T	1.37:g.248487739G>A			B2RNL0|Q6IEX6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I44	ENST00000317965.2	37	c.132	CCDS31111.1	1																																																																																			-	OR2M7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	0	0	0	141	141	44	0.00	0.00	G	NM_001004691		248487739	-1	40	18	69	38	tier1	no_errors	ENST00000317965	ensembl	human	known	74_37	silent	36.36	32.14	SNP	0.000	A	40	69
ABCA7	10347	genome.wustl.edu	37	19	1048895	1048895	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:1048895C>T	ENST00000263094.6	+	17	2502	c.2271C>T	c.(2269-2271)ggC>ggT	p.G757G	ABCA7_ENST00000433129.1_Splice_Site_p.G757G|ABCA7_ENST00000435683.2_Splice_Site_p.G619G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	757					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGCAGGCCAGTACGGGA	0.572													ENSG00000064687																																					0													25.0	25.0	25.0					19																	1048895		2196	4296	6492	SO:0001630	splice_region_variant	0			-	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2270-1C>T	19.37:g.1048895C>T			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G757	ENST00000263094.6	37	c.2271	CCDS12055.1	19																																																																																			-	ABCA7	-	NULL		0.572	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	0	0	0	153	153	68	0.00	0.00	C	NM_019112	Silent	1048895	+1	103	54	45	22	tier1	no_errors	ENST00000263094	ensembl	human	known	74_37	silent	69.59	71.05	SNP	0.998	T	103	45
SGPP1	81537	genome.wustl.edu	37	14	64153115	64153115	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:64153115G>A	ENST00000247225.6	-	3	1128	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	345					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ATCTAGAGAAGGATCTAATAC	0.443													ENSG00000126821																																					0													88.0	78.0	81.0					14																	64153115		2203	4300	6503	SO:0001583	missense	0			-	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1034C>T	14.37:g.64153115G>A	ENSP00000247225:p.Pro345Leu		B2RAH0|Q9H189	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P345L	ENST00000247225.6	37	c.1034	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676237	0.47886	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.058817	0.64402	D	0.000001	T	0.70404	0.3220	M	0.77103	2.36	0.80722	D	1	D	0.53885	0.963	P	0.47118	0.538	T	0.66716	-0.5853	9	0.20519	T	0.43	-18.3662	20.6593	0.99626	0.0:0.0:1.0:0.0	.	345	Q9BX95	SGPP1_HUMAN	L	345	.	ENSP00000247225:P345L	P	-	2	0	SGPP1	63222868	1.000000	0.71417	0.874000	0.34290	0.104000	0.19210	5.118000	0.64673	2.885000	0.99019	0.655000	0.94253	CCT	-	SGPP1	-	NULL		0.443	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	HGNC	protein_coding	OTTHUMT00000072626.3	0	0	0	55	55	117	0.00	0.00	G	NM_030791		64153115	-1	10	33	69	85	tier1	no_errors	ENST00000247225	ensembl	human	known	74_37	missense	12.66	27.73	SNP	1.000	A	10	69
LRRC30	339291	genome.wustl.edu	37	18	7231500	7231500	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:7231500C>T	ENST00000383467.2	+	1	378	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	122										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTCAAGGTCCTGTTTGTCAA	0.597													ENSG00000206422																																					0													38.0	43.0	42.0					18																	7231500		2023	4186	6209	SO:0001819	synonymous_variant	0			-		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.364C>T	18.37:g.7231500C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L122	ENST00000383467.2	37	c.364	CCDS42409.1	18																																																																																			-	LRRC30	-	smart_Leu-rich_rpt_typical-subtyp		0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	0	0	0	53	53	109	0.00	0.00	C	XM_292678		7231500	+1	27	52	20	32	tier1	no_errors	ENST00000383467	ensembl	human	known	74_37	silent	57.45	61.90	SNP	1.000	T	27	20
MCTP1	79772	genome.wustl.edu	37	5	94275850	94275850	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:94275850C>T	ENST00000515393.1	-	5	1110	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MCTP1_ENST00000312216.8_Missense_Mutation_p.D150N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D150N|MCTP1_ENST00000429576.2_Missense_Mutation_p.D150N	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	371					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATTCCAAGATCATGGTCAGGA	0.418													ENSG00000175471																																					0													166.0	168.0	167.0					5																	94275850		2203	4300	6503	SO:0001583	missense	0			-		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1111G>A	5.37:g.94275850C>T	ENSP00000424126:p.Asp371Asn		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.D371N	ENST00000515393.1	37	c.1111	CCDS34203.1	5	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475559	0.43942	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568;ENST00000415885;ENST00000507214;ENST00000514780	T;T;T;T;T;T;T;T;T	0.78707	-0.22;-0.22;-0.22;-0.22;-1.2;-0.22;-1.19;-0.22;-0.22	5.63	4.75	0.60458	C2 calcium/lipid-binding domain, CaLB (1);	0.232847	0.45361	D	0.000370	T	0.60996	0.2312	N	0.20685	0.6	0.49687	D	0.999816	B;B;B	0.19073	0.021;0.033;0.009	B;B;B	0.22753	0.022;0.034;0.041	T	0.53697	-0.8402	10	0.14656	T	0.56	-9.1785	9.4388	0.38655	0.152:0.7768:0.0:0.0712	.	371;150;150	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	N	371;150;150;150;32;150;11;112;132;131	ENSP00000424126:D371N;ENSP00000391639:D150N;ENSP00000308957:D150N;ENSP00000423410:D150N;ENSP00000431075:D32N;ENSP00000426438:D150N;ENSP00000426294:D11N;ENSP00000424936:D132N;ENSP00000421543:D131N	ENSP00000308957:D150N	D	-	1	0	MCTP1	94301606	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	2.078000	0.41567	1.473000	0.48159	0.563000	0.77884	GAT	-	MCTP1	-	superfamily_C2_dom		0.418	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	0	0	0	72	72	121	0.00	0.00	C	NM_024717		94275850	-1	35	40	16	26	tier1	no_errors	ENST00000515393	ensembl	human	known	74_37	missense	68.63	60.61	SNP	1.000	T	35	16
ZSWIM3	140831	genome.wustl.edu	37	20	44506223	44506223	+	Silent	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44506223T>C	ENST00000255152.2	+	2	1235	c.1026T>C	c.(1024-1026)acT>acC	p.T342T	ZSWIM3_ENST00000454862.2_Silent_p.T336T	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	342							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TGTTTGTCACTTCTGAAGCCA	0.517													ENSG00000132801																																					0													82.0	83.0	83.0					20																	44506223		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1026T>C	20.37:g.44506223T>C			Q9BR13	Silent	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.T342	ENST00000255152.2	37	c.1026	CCDS13381.1	20																																																																																			-	ZSWIM3	-	NULL		0.517	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	0	0	0	36	36	121	0.00	0.00	T	NM_080752		44506223	+1	14	54	30	86	tier1	no_errors	ENST00000255152	ensembl	human	known	74_37	silent	31.82	38.57	SNP	0.980	C	14	30
VWC2L	402117	genome.wustl.edu	37	2	215279262	215279262	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:215279262C>T	ENST00000312504.5	+	2	1147	c.345C>T	c.(343-345)ttC>ttT	p.F115F	VWC2L_ENST00000427124.1_Silent_p.F115F|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	115	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)		p.F115L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TAAAAAACTTCTGTGAATATC	0.378													ENSG00000174453																																					1	Substitution - Missense(1)	large_intestine(1)											43.0	41.0	42.0					2																	215279262		1847	4093	5940	SO:0001819	synonymous_variant	0			-	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.345C>T	2.37:g.215279262C>T			A6NC69|B2RUW7|B7X8X1	Silent	SNP	smart_VWF_C,pfscan_VWF_C	p.F115	ENST00000312504.5	37	c.345	CCDS46509.1	2																																																																																			-	VWC2L	-	pfscan_VWF_C		0.378	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2L	HGNC	protein_coding	OTTHUMT00000337175.1	0	0	0	76	76	111	0.00	0.00	C	NM_001080500		215279262	+1	28	41	40	43	tier1	no_errors	ENST00000312504	ensembl	human	known	74_37	silent	41.18	48.81	SNP	1.000	T	28	40
BECN1	8678	genome.wustl.edu	37	17	40963737	40963737	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:40963737C>T	ENST00000361523.4	-	11	1252	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.D374N	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	374					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.D374Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGCACACAGTCCAGGAAAGCC	0.488													ENSG00000126581																																					1	Substitution - Missense(1)	lung(1)											179.0	157.0	165.0					17																	40963737		2203	4300	6503	SO:0001583	missense	0			-	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1120G>A	17.37:g.40963737C>T	ENSP00000355231:p.Asp374Asn		B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	pfam_Beclin_fam,superfamily_Translin	p.D374N	ENST00000361523.4	37	c.1120	CCDS11441.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.449577	0.96205	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.48836	0.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70554	-0.4840	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	374	Q14457	BECN1_HUMAN	N	374;287	ENSP00000355231:D374N	ENSP00000355231:D374N	D	-	1	0	BECN1	38217263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	GAC	-	BECN1	-	pfam_Beclin_fam		0.488	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	HGNC	protein_coding	OTTHUMT00000452405.1	0	0	0	83	83	146	0.00	0.00	C	NM_003766		40963737	-1	34	62	15	36	tier1	no_errors	ENST00000361523	ensembl	human	known	74_37	missense	69.39	62.63	SNP	1.000	T	34	15
MYO3B	140469	genome.wustl.edu	37	2	171256745	171256745	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:171256745G>A	ENST00000408978.4	+	17	1982	c.1839G>A	c.(1837-1839)ggG>ggA	p.G613G	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.G613G|MYO3B_ENST00000334231.6_Silent_p.G622G	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	613	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGAATATTGGGAACATTGAGT	0.393													ENSG00000071909																																					0													228.0	206.0	213.0					2																	171256745		1858	4106	5964	SO:0001819	synonymous_variant	0			-		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1839G>A	2.37:g.171256745G>A			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.G622	ENST00000408978.4	37	c.1866	CCDS42773.1	2																																																																																			-	MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.393	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	0	0	0	104	104	115	0.00	0.00	G			171256745	+1	38	45	44	58	tier1	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	46.34	43.69	SNP	0.998	A	38	44
LRRIQ3	127255	genome.wustl.edu	37	1	74507223	74507223	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:74507223T>A	ENST00000395089.1	-	6	1391	c.1392A>T	c.(1390-1392)aaA>aaT	p.K464N	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.K464N			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	464										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAGCATATTTTTTCTGATTCA	0.333													ENSG00000162620																																					0													160.0	147.0	151.0					1																	74507223		1818	4078	5896	SO:0001583	missense	0			-	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1392A>T	1.37:g.74507223T>A	ENSP00000378524:p.Lys464Asn		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.K464N	ENST00000395089.1	37	c.1392	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282048	0.40394	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.18502	2.21;2.21	5.77	4.62	0.57501	.	0.000000	0.49305	D	0.000151	T	0.14787	0.0357	L	0.34521	1.04	0.28245	N	0.925503	D	0.76494	0.999	D	0.68765	0.96	T	0.05241	-1.0897	10	0.87932	D	0	.	9.1009	0.36667	0.0:0.0843:0.0:0.9157	.	464	A6PVS8	LRIQ3_HUMAN	N	464	ENSP00000378524:K464N;ENSP00000346414:K464N	ENSP00000346414:K464N	K	-	3	2	LRRIQ3	74279811	0.997000	0.39634	0.554000	0.28268	0.006000	0.05464	0.712000	0.25779	1.076000	0.40961	0.477000	0.44152	AAA	-	LRRIQ3	-	NULL		0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	0	0	0	56	56	64	0.00	0.00	T	NM_145258		74507223	-1	11	10	53	54	tier1	no_errors	ENST00000354431	ensembl	human	known	74_37	missense	17.19	15.62	SNP	0.840	A	11	53
ADD2	119	genome.wustl.edu	37	2	70890802	70890802	+	Missense_Mutation	SNP	C	C	T	rs560319503		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:70890802C>T	ENST00000264436.4	-	16	2380	c.1936G>A	c.(1936-1938)Ggg>Agg	p.G646R	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.G646R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	646					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACCACCACCCCTTCCGGCTGG	0.517													ENSG00000075340																																					0													106.0	95.0	99.0					2																	70890802		2203	4300	6503	SO:0001583	missense	0			-	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1936G>A	2.37:g.70890802C>T	ENSP00000264436:p.Gly646Arg		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.G646R	ENST00000264436.4	37	c.1936	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	C	8.433	0.848992	0.17034	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.47869	0.83;0.83	5.43	5.43	0.79202	.	0.749565	0.13122	N	0.412169	T	0.42426	0.1202	L	0.43152	1.355	0.80722	D	1	B;B	0.31680	0.183;0.335	B;B	0.30495	0.08;0.116	T	0.20806	-1.0264	10	0.16420	T	0.52	-14.9326	17.0925	0.86626	0.0:1.0:0.0:0.0	.	646;646	Q05DK5;P35612	.;ADDB_HUMAN	R	646;646;397	ENSP00000264436:G646R;ENSP00000384677:G646R	ENSP00000264436:G646R	G	-	1	0	ADD2	70744310	0.898000	0.30612	0.844000	0.33320	0.013000	0.08279	4.380000	0.59581	2.698000	0.92095	0.650000	0.86243	GGG	-	ADD2	-	NULL		0.517	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	0	0	0	47	47	116	0.00	0.00	C	NM_001617		70890802	-1	10	21	35	91	tier1	no_errors	ENST00000264436	ensembl	human	known	74_37	missense	22.22	18.75	SNP	0.952	T	10	35
ENPP5	59084	genome.wustl.edu	37	6	46129190	46129190	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:46129190C>T	ENST00000371383.2	-	5	1567	c.1307G>A	c.(1306-1308)gGg>gAg	p.G436E	ENPP5_ENST00000230565.3_Missense_Mutation_p.G436E					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAGAGAGACCCCTATGAAATA	0.393													ENSG00000112796																																					0													75.0	75.0	75.0					6																	46129190		2203	4300	6503	SO:0001583	missense	0			-	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1307G>A	6.37:g.46129190C>T	ENSP00000360436:p.Gly436Glu			Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G436E	ENST00000371383.2	37	c.1307	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717333	0.89205	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75260	-0.92;-0.92	5.85	5.85	0.93711	.	0.114600	0.56097	D	0.000021	D	0.82440	0.5037	M	0.63843	1.955	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.83552	0.0102	10	0.87932	D	0	-13.2056	16.8963	0.86101	0.0:1.0:0.0:0.0	.	436	Q9UJA9	ENPP5_HUMAN	E	436	ENSP00000360436:G436E;ENSP00000230565:G436E	ENSP00000230565:G436E	G	-	2	0	ENPP5	46237149	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	4.897000	0.63231	2.773000	0.95371	0.655000	0.94253	GGG	-	ENPP5	-	NULL		0.393	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2	0	0	0	84	84	113	0.00	0.00	C			46129190	-1	32	33	60	74	tier1	no_errors	ENST00000230565	ensembl	human	known	74_37	missense	34.78	30.84	SNP	0.999	T	32	60
FBXL7	23194	genome.wustl.edu	37	5	15937163	15937163	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:15937163C>T	ENST00000504595.1	+	4	1825	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	FBXL7_ENST00000329673.7_Silent_p.I436I|FBXL7_ENST00000510662.1_Silent_p.I401I|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	448					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTTGCAGATCGTGGCCGCCA	0.627													ENSG00000183580																																					0													43.0	48.0	46.0					5																	15937163		2070	4205	6275	SO:0001819	synonymous_variant	0			-	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1344C>T	5.37:g.15937163C>T			B9EGF1|D6RDY7|O94926	Silent	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.I448	ENST00000504595.1	37	c.1344	CCDS54833.1	5																																																																																			-	FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.627	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	0	0	0	31	31	26	0.00	0.00	C	NM_012304		15937163	+1	16	19	12	14	tier1	no_errors	ENST00000504595	ensembl	human	known	74_37	silent	57.14	57.58	SNP	1.000	T	16	12
GPR68	8111	genome.wustl.edu	37	14	91701269	91701269	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:91701269G>A	ENST00000531499.2	-	2	465	c.126C>T	c.(124-126)tcC>tcT	p.S42S	GPR68_ENST00000238699.3_Silent_p.S52S|GPR68_ENST00000535815.1_Silent_p.S42S|GPR68_ENST00000529300.1_5'Flank			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	42					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CGAAGTAGAGGGACAGGCAGT	0.617													ENSG00000119714																																					0													75.0	68.0	70.0					14																	91701269		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.126C>T	14.37:g.91701269G>A			Q13334|Q4VBB4|Q6IX34	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.S52	ENST00000531499.2	37	c.156	CCDS9894.2	14																																																																																			-	GPR68	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.617	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	HGNC	protein_coding	OTTHUMT00000395245.2	0	0	0	26	26	57	0.00	0.00	G			91701269	-1	10	14	17	46	tier1	no_errors	ENST00000238699	ensembl	human	known	74_37	silent	37.04	23.33	SNP	0.508	A	10	17
OR10T2	128360	genome.wustl.edu	37	1	158369023	158369023	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:158369023G>A	ENST00000334438.1	-	1	233	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	78			I -> V (in dbSNP:rs6662597).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GCTGAGGGATGATGACAAAAG	0.502													ENSG00000186306																																					0													97.0	96.0	96.0					1																	158369023		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.234C>T	1.37:g.158369023G>A			Q6IF98	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I78	ENST00000334438.1	37	c.234	CCDS30895.1	1																																																																																			-	OR10T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10T2	HGNC	protein_coding	OTTHUMT00000046371.1	0	0	0	43	43	111	0.00	0.00	G	NM_001004475		158369023	-1	9	15	27	49	tier1	no_errors	ENST00000334438	ensembl	human	known	74_37	silent	25.00	23.08	SNP	0.664	A	9	27
ZFHX2	85446	genome.wustl.edu	37	14	23994312	23994312	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:23994312G>A	ENST00000419474.3	-	9	5194	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1613					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						TAGTCTCAAAGAAAGACTGCA	0.587													ENSG00000136367																																					0																																										SO:0001819	synonymous_variant	0			-	AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.4839C>T	14.37:g.23994312G>A			Q9UPU6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.F1613	ENST00000419474.3	37	c.4839	CCDS55907.1	14																																																																																			-	ZFHX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.587	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	0	0	0	57	57	84	0.00	0.00	G	NM_014894		23994312	-1	24	36	31	65	tier1	no_errors	ENST00000419474	ensembl	human	known	74_37	silent	43.64	35.64	SNP	1.000	A	24	31
NLRP4	147945	genome.wustl.edu	37	19	56382299	56382299	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:56382299G>A	ENST00000301295.6	+	7	2883	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D765N|NLRP4_ENST00000587891.1_Missense_Mutation_p.D746N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	821					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTCCTGAAGGACGAAGGACT	0.507													ENSG00000160505																																					0													147.0	127.0	134.0					19																	56382299		2203	4300	6503	SO:0001583	missense	0			-	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2461G>A	19.37:g.56382299G>A	ENSP00000301295:p.Asp821Asn		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.D821N	ENST00000301295.6	37	c.2461	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372830	0.42105	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.58797	0.31;1.16	3.75	1.53	0.23141	.	.	.	.	.	T	0.60792	0.2296	M	0.77313	2.365	0.09310	N	1	P;P;P	0.48503	0.911;0.825;0.855	P;P;P	0.49301	0.574;0.471;0.606	T	0.50750	-0.8791	9	0.40728	T	0.16	.	4.6256	0.12476	0.1178:0.0:0.6669:0.2153	.	765;746;821	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	821;765	ENSP00000301295:D821N;ENSP00000344787:D765N	ENSP00000301295:D821N	D	+	1	0	NLRP4	61074111	0.015000	0.18098	0.002000	0.10522	0.002000	0.02628	1.101000	0.31037	0.365000	0.24400	-0.145000	0.13849	GAC	-	NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	0	0	0	42	42	74	0.00	0.00	G	NM_134444		56382299	+1	5	20	17	56	tier1	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	22.73	26.32	SNP	0.003	A	5	17
TTN	7273	genome.wustl.edu	37	2	179637975	179637975	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179637975G>A	ENST00000591111.1	-	33	7940	c.7716C>T	c.(7714-7716)atC>atT	p.I2572I	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.I2572I|TTN_ENST00000342175.6_Silent_p.I2526I|TTN_ENST00000589042.1_Silent_p.I2572I|TTN_ENST00000342992.6_Silent_p.I2572I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I2526I|TTN_ENST00000460472.2_Silent_p.I2526I|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12895					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)			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)			AACTGGGCTTGATTTCCTTGT	0.348													ENSG00000155657																																					0													42.0	44.0	44.0					2																	179637975		2203	4300	6503	SO:0001819	synonymous_variant	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.7716C>T	2.37:g.179637975G>A			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	Silent	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.I2572	ENST00000591111.1	37	c.7716		2																																																																																			-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	91	91	118	0.00	0.00	G	NM_133378		179637975	-1	33	34	34	60	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	49.25	35.79	SNP	0.879	A	33	34
SCN11A	11280	genome.wustl.edu	37	3	38888901	38888901	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38888901C>T	ENST00000302328.3	-	26	4858	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1516N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1554N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1554					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAGGGAATCCCAACCTGCT	0.468													ENSG00000168356																																					0													91.0	89.0	90.0					3																	38888901		2203	4300	6503	SO:0001583	missense	0			-	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4660G>A	3.37:g.38888901C>T	ENSP00000307599:p.Asp1554Asn		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.D1554N	ENST00000302328.3	37	c.4660	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453783	0.84209	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97352	-4.35;-4.35;-4.35	5.49	5.49	0.81192	Ion transport (1);	0.050021	0.85682	D	0.000000	D	0.96667	0.8912	N	0.20304	0.555	0.58432	D	0.999992	D	0.89917	1.0	D	0.78314	0.991	D	0.97385	0.9985	10	0.59425	D	0.04	.	15.7138	0.77652	0.0:0.8632:0.1368:0.0	.	1554	Q9UI33	SCNBA_HUMAN	N	1554;1554;1516	ENSP00000307599:D1554N;ENSP00000400945:D1554N;ENSP00000416757:D1516N	ENSP00000307599:D1554N	D	-	1	0	SCN11A	38863905	1.000000	0.71417	0.996000	0.52242	0.751000	0.42716	4.926000	0.63433	2.568000	0.86640	0.573000	0.79308	GAT	-	SCN11A	-	pfam_Ion_trans_dom		0.468	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	0	0	0	50	50	104	0.00	0.00	C	NM_014139		38888901	-1	18	27	50	55	tier1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	26.47	32.93	SNP	1.000	T	18	50
ATP8A1	10396	genome.wustl.edu	37	4	42577716	42577716	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:42577716C>T	ENST00000381668.5	-	13	1360	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	ATP8A1_ENST00000264449.10_Splice_Site_p.D377N	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	377					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATGTCAAGATCCTTTAATAAA	0.333													ENSG00000124406																																					0													152.0	158.0	156.0					4																	42577716		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1129-1G>A	4.37:g.42577716C>T			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D377N	ENST00000381668.5	37	c.1129	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.536694	0.96460	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.72167	-0.63;-0.63	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89876	0.6842	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.97110	0.971;1.0;1.0	D	0.91644	0.5329	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	377;377;377	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	N	377	ENSP00000371084:D377N;ENSP00000264449:D377N	ENSP00000264449:D377N	D	-	1	0	ATP8A1	42272473	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.707000	0.84623	2.885000	0.99019	0.655000	0.94253	GAT	-	ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase		0.333	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	0	0	0	121	121	105	0.00	0.00	C	NM_006095	Missense_Mutation	42577716	-1	44	47	25	46	tier1	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	63.77	50.00	SNP	1.000	T	44	25
MCTP2	55784	genome.wustl.edu	37	15	94945773	94945773	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:94945773G>A	ENST00000357742.4	+	16	2085				MCTP2_ENST00000331706.4_Missense_Mutation_p.G303D|MCTP2_ENST00000557742.1_Missense_Mutation_p.G303D|MCTP2_ENST00000451018.3_Intron	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTGACATTGGCCCATCCTTA	0.433													ENSG00000140563																																					0													163.0	132.0	141.0					15																	94945773		686	1589	2275	SO:0001627	intron_variant	0			-	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2085+525G>A	15.37:g.94945773G>A			A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.G303D	ENST00000357742.4	37	c.908	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727596	0.30593	.	.	ENSG00000140563	ENST00000331706	T	0.68025	-0.3	4.01	-0.831	0.10789	.	.	.	.	.	T	0.44350	0.1289	.	.	.	0.09310	N	1	B	0.25609	0.13	B	0.27076	0.076	T	0.25813	-1.0121	8	0.25751	T	0.34	.	2.2217	0.03974	0.1039:0.1508:0.2992:0.4461	.	303	Q6DN12-4	.	D	303	ENSP00000329646:G303D	ENSP00000329646:G303D	G	+	2	0	MCTP2	92746777	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.143000	0.10296	-0.143000	0.11334	0.650000	0.86243	GGC	-	MCTP2	-	NULL		0.433	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	0	0	0	37	37	104	0.00	0.00	G	NM_018349		94945773	+1	16	33	28	53	tier1	no_errors	ENST00000331706	ensembl	human	known	74_37	missense	36.36	38.37	SNP	0.000	A	16	28
ZNF451	26036	genome.wustl.edu	37	6	57017092	57017092	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:57017092C>T	ENST00000370706.4	+	12	3070	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F942F|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Silent_p.F894F|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	942					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATGCTTCTTCCTTCATCCTC	0.368													ENSG00000112200																																					0													138.0	132.0	134.0					6																	57017092		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2826C>T	6.37:g.57017092C>T			Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F942	ENST00000370706.4	37	c.2826	CCDS43477.1	6																																																																																			-	ZNF451	-	NULL		0.368	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2	0	0	0	143	143	91	0.00	0.00	C	NM_015555		57017092	+1	19	22	81	60	tier1	no_errors	ENST00000370706	ensembl	human	known	74_37	silent	19.00	26.19	SNP	1.000	T	19	81
PDSS2	57107	genome.wustl.edu	37	6	107585650	107585650	+	Intron	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:107585650A>G	ENST00000369037.4	-	3	908				PDSS2_ENST00000453874.2_Intron|PDSS2_ENST00000369031.4_Missense_Mutation_p.S233P	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2						isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GGGTGTTTAGACAAGATCCAG	0.378													ENSG00000164494																																					0																																										SO:0001627	intron_variant	0			-	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.630+9582T>C	6.37:g.107585650A>G			Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.S233P	ENST00000369037.4	37	c.697	CCDS5059.1	6	.	.	.	.	.	.	.	.	.	.	A	9.753	1.167981	0.21621	.	.	ENSG00000164494	ENST00000369031	T	0.50277	0.75	5.9	-1.53	0.08611	.	.	.	.	.	T	0.17916	0.0430	.	.	.	0.19775	N	0.999959	B	0.10296	0.003	B	0.13407	0.009	T	0.43327	-0.9398	8	0.62326	D	0.03	.	10.3864	0.44143	0.5544:0.0:0.4456:0.0	.	233	Q86YH6-2	.	P	233	ENSP00000358027:S233P	ENSP00000358027:S233P	S	-	1	0	PDSS2	107692343	0.020000	0.18652	0.020000	0.16555	0.056000	0.15407	0.334000	0.19787	-0.046000	0.13446	-0.256000	0.11100	TCT	-	PDSS2	-	NULL		0.378	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	0	0	0	57	57	107	0.00	0.00	A	NM_020381		107585650	-1	16	27	31	57	tier1	no_errors	ENST00000369031	ensembl	human	known	74_37	missense	34.04	32.14	SNP	0.008	G	16	31
VGLL2	245806	genome.wustl.edu	37	6	117589462	117589462	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:117589462G>A	ENST00000326274.5	+	2	389	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	VGLL2_ENST00000352536.3_Missense_Mutation_p.E67K	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	67					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AAAAGAGGAAGAAGGCAGCCC	0.572													ENSG00000170162																																					0													111.0	132.0	125.0					6																	117589462		2203	4300	6503	SO:0001583	missense	0			-	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.199G>A	6.37:g.117589462G>A	ENSP00000320957:p.Glu67Lys		Q8WWX1	Missense_Mutation	SNP	pfam_Vg_Tdu	p.E67K	ENST00000326274.5	37	c.199	CCDS5115.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248302	0.80024	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.52754	0.65	5.19	5.19	0.71726	.	0.263447	0.35436	N	0.003201	T	0.24699	0.0599	N	0.19112	0.55	0.47341	D	0.999396	P;P	0.40970	0.59;0.734	B;B	0.37731	0.133;0.257	T	0.07966	-1.0745	10	0.44086	T	0.13	-3.241	18.9072	0.92467	0.0:0.0:1.0:0.0	.	67;67	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	K	67	ENSP00000320957:E67K	ENSP00000320957:E67K	E	+	1	0	VGLL2	117696155	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.335000	0.79234	2.708000	0.92522	0.561000	0.74099	GAA	-	VGLL2	-	NULL		0.572	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL2	HGNC	protein_coding	OTTHUMT00000041975.2	0	0	0	118	118	61	0.00	0.00	G	NM_153453		117589462	+1	24	26	59	39	tier1	no_errors	ENST00000326274	ensembl	human	known	74_37	missense	28.92	40.00	SNP	1.000	A	24	59
SEZ6L	23544	genome.wustl.edu	37	22	26709777	26709777	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:26709777C>T	ENST00000248933.6	+	9	2019	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	SEZ6L_ENST00000404234.3_Missense_Mutation_p.P642S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P415S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P415S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P642S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P642S|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P642S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	642	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGTATTGTCCCCAAACTGGCC	0.488													ENSG00000100095																																					0													142.0	131.0	134.0					22																	26709777		2203	4300	6503	SO:0001583	missense	0			-	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1924C>T	22.37:g.26709777C>T	ENSP00000248933:p.Pro642Ser		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P642S	ENST00000248933.6	37	c.1924	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916404	0.92249	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.78	4.78	0.61160	CUB (5);	0.000000	0.56097	D	0.000029	T	0.72622	0.3483	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.77004	0.977;0.989;0.932;0.981;0.987;0.989;0.989	T	0.80710	-0.1261	10	0.87932	D	0	.	17.0225	0.86437	0.0:1.0:0.0:0.0	.	642;642;415;642;642;642;642	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	S	642;642;642;642;642;415;415	ENSP00000384772:P642S;ENSP00000437037:P642S;ENSP00000354185:P642S;ENSP00000248933:P642S;ENSP00000342661:P642S;ENSP00000384838:P415S;ENSP00000384733:P415S	ENSP00000248933:P642S	P	+	1	0	SEZ6L	25039777	1.000000	0.71417	0.906000	0.35671	0.947000	0.59692	7.183000	0.77697	2.492000	0.84095	0.655000	0.94253	CCA	-	SEZ6L	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.488	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	0	0	1	82	82	146	0.00	0.68	C			26709777	+1	23	34	65	71	tier1	no_errors	ENST00000248933	ensembl	human	known	74_37	missense	26.14	32.38	SNP	1.000	T	23	65
CTNNA2	1496	genome.wustl.edu	37	2	80835423	80835423	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:80835423G>A	ENST00000402739.4	+	16	2415	c.2410G>A	c.(2410-2412)Gga>Aga	p.G804R	CTNNA2_ENST00000343114.3_Missense_Mutation_p.G483R|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.G804R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.G804R|AC008067.2_ENST00000599412.2_RNA|CTNNA2_ENST00000361291.4_Missense_Mutation_p.G838R|AC008067.2_ENST00000596783.1_RNA|CTNNA2_ENST00000540488.1_Intron|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.G804R|AC008067.2_ENST00000595478.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	804					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAATCTGGGAGGAGAGCTCAT	0.463													ENSG00000066032																																					0													101.0	97.0	98.0					2																	80835423		1949	4164	6113	SO:0001583	missense	0			-		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2410G>A	2.37:g.80835423G>A	ENSP00000384638:p.Gly804Arg		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.G838R	ENST00000402739.4	37	c.2512		2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956892	0.73902	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000343114	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.88310	2.945	0.80722	D	1	P;D;P	0.55172	0.686;0.97;0.889	B;P;P	0.57548	0.315;0.823;0.618	T	0.71593	-0.4546	9	.	.	.	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	436;804;804	F6KRI5;P26232;P26232-2	.;CTNA2_HUMAN;.	R	804;804;838;804;804;483	ENSP00000418191:G804R;ENSP00000419295:G804R;ENSP00000355398:G838R;ENSP00000384638:G804R;ENSP00000444675:G804R;ENSP00000341500:G483R	.	G	+	1	0	CTNNA2	80688934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	GGA	-	CTN2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.463	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTN2	HGNC	protein_coding	OTTHUMT00000328511.4	0	0	0	53	53	128	0.00	0.00	G	NM_004389		80835423	+1	22	38	41	67	tier1	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	34.92	36.19	SNP	1.000	A	22	41
ADCK3	56997	genome.wustl.edu	37	1	227171228	227171228	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:227171228C>T	ENST00000366779.1	+	14	3851				ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGGCTAACTCCCCTGCCTCAC	0.627													ENSG00000163050																																					0													56.0	49.0	51.0					1																	227171228		2203	4300	6503	SO:0001627	intron_variant	0			-	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1081-25C>T	1.37:g.227171228C>T			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	R	SNP	-	NULL	ENST00000366779.1	37	NULL	CCDS1557.1	1																																																																																			-	ADCK3	-	-		0.627	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	0	0	0	23	23	77	0.00	0.00	C	NM_020247		227171228	+1	5	17	14	35	tier1	no_errors	ENST00000478406	ensembl	human	known	74_37	rna	26.32	32.69	SNP	0.000	T	5	14
PVRL2	5819	genome.wustl.edu	37	19	45375161	45375161	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:45375161C>T	ENST00000252483.5	+	3	530	c.530C>T	c.(529-531)cCt>cTt	p.P177L	PVRL2_ENST00000252485.4_Missense_Mutation_p.P177L	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	177	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		AGCCAGGACCCTACGACAGTG	0.622													ENSG00000130202																																					0													40.0	37.0	38.0					19																	45375161		2203	4300	6503	SO:0001583	missense	0			-	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.530C>T	19.37:g.45375161C>T	ENSP00000252483:p.Pro177Leu		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P177L	ENST00000252483.5	37	c.530	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629783	0.28978	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.75477	3.31;-0.94	4.42	4.42	0.53409	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);	0.119289	0.38326	N	0.001739	T	0.81317	0.4797	M	0.81179	2.53	0.22620	N	0.998926	P;P	0.37441	0.508;0.595	P;P	0.48454	0.578;0.543	T	0.75093	-0.3439	10	0.52906	T	0.07	.	12.3886	0.55347	0.0:1.0:0.0:0.0	.	177;177	Q92692;Q92692-2	PVRL2_HUMAN;.	L	177	ENSP00000252483:P177L;ENSP00000252485:P177L	ENSP00000252483:P177L	P	+	2	0	PVRL2	50067001	0.003000	0.15002	0.017000	0.16124	0.006000	0.05464	1.610000	0.36869	2.300000	0.77407	0.561000	0.74099	CCT	-	PVRL2	-	pfam_CD80_C2-set,pfscan_Ig-like_dom		0.622	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	0	0	0	53	53	74	0.00	0.00	C	NM_002856		45375161	+1	15	24	35	52	tier1	no_errors	ENST00000252483	ensembl	human	known	74_37	missense	30.00	31.58	SNP	0.040	T	15	35
PTPRD	5789	genome.wustl.edu	37	9	8404648	8404648	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:8404648C>T	ENST00000381196.4	-	33	4642	c.4099G>A	c.(4099-4101)Ggc>Agc	p.G1367S	PTPRD_ENST00000356435.5_Missense_Mutation_p.G1367S|PTPRD_ENST00000397617.3_Missense_Mutation_p.G960S|PTPRD_ENST00000397606.3_Missense_Mutation_p.G960S|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1354S|PTPRD_ENST00000537002.1_Missense_Mutation_p.G957S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1367S|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1345S|PTPRD_ENST00000486161.1_Missense_Mutation_p.G960S|PTPRD_ENST00000397611.3_Missense_Mutation_p.G957S|PTPRD_ENST00000355233.5_Missense_Mutation_p.G961S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1367	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACTGCTGGCCAGGGTCAATT	0.358										TSP Lung(15;0.13)			ENSG00000153707																																					0													126.0	114.0	118.0					9																	8404648		2203	4300	6503	SO:0001583	missense	0			-	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4099G>A	9.37:g.8404648C>T	ENSP00000370593:p.Gly1367Ser		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.G1367S	ENST00000381196.4	37	c.4099	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328873	0.81690	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.050859	0.85682	D	0.000000	T	0.58949	0.2158	M	0.75150	2.29	0.80722	D	1	B;B;B;B;P;B;P;D;B	0.76494	0.133;0.133;0.133;0.133;0.752;0.209;0.92;0.999;0.328	B;B;B;B;P;B;P;D;B	0.87578	0.066;0.066;0.066;0.066;0.541;0.139;0.67;0.998;0.156	T	0.54906	-0.8223	9	.	.	.	.	20.2504	0.98404	0.0:1.0:0.0:0.0	.	960;951;960;961;957;957;1354;1367;1367	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	1367;1367;1354;1345;961;960;957;957;838;1367;960;960	ENSP00000370593:G1367S;ENSP00000348812:G1367S;ENSP00000353187:G1354S;ENSP00000351293:G1345S;ENSP00000347373:G961S;ENSP00000380741:G960S;ENSP00000380735:G957S;ENSP00000440515:G957S;ENSP00000438164:G1367S;ENSP00000417093:G960S;ENSP00000380731:G960S	.	G	-	1	0	PTPRD	8394648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.850000	0.98022	0.650000	0.86243	GGC	-	PTPRD	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.358	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	0	0	0	89	89	151	0.00	0.00	C			8404648	-1	18	38	21	52	tier1	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	46.15	41.76	SNP	1.000	T	18	21
SEMA6A	57556	genome.wustl.edu	37	5	115782667	115782667	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:115782667T>A	ENST00000343348.6	-	19	3522	c.2735A>T	c.(2734-2736)tAc>tTc	p.Y912F	SEMA6A_ENST00000510263.1_Missense_Mutation_p.Y912F|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.Y389F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.Y339F|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.Y929F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.Y291F	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	912					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTCAACCCCGTAGGAAGAGGA	0.577													ENSG00000092421																																					0													58.0	65.0	62.0					5																	115782667		1968	4164	6132	SO:0001583	missense	0			-	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2735A>T	5.37:g.115782667T>A	ENSP00000345512:p.Tyr912Phe		Q9P2H9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.Y929F	ENST00000343348.6	37	c.2786	CCDS47256.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.44|18.44	3.625031|3.625031	0.66901|0.66901	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.44881	.|2.27;2.27;0.91;2.74;0.92;2.27	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.393072	.|0.19623	.|N	.|0.109880	T|T	0.53400|0.53400	0.1794|0.1794	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D;D;D;D	.|0.76494	.|0.996;0.995;0.999;0.998;0.999;0.998	.|D;D;D;D;D;D	.|0.80764	.|0.98;0.966;0.993;0.994;0.993;0.987	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.12430	.|T	.|0.62	.|.	14.7568|14.7568	0.69572|0.69572	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|291;912;456;929;389;339	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	S|F	427|912;929;339;389;291;912	.|ENSP00000345512:Y912F;ENSP00000257414:Y929F;ENSP00000422997:Y339F;ENSP00000282394:Y389F;ENSP00000425364:Y291F;ENSP00000424388:Y912F	.|ENSP00000257414:Y929F	T|Y	-|-	1|2	0|0	SEMA6A|SEMA6A	115810566|115810566	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.991000|0.991000	0.79684|0.79684	7.634000|7.634000	0.83273|0.83273	1.972000|1.972000	0.57404|0.57404	0.460000|0.460000	0.39030|0.39030	ACG|TAC	-	SEMA6A	-	NULL		0.577	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	0	0	0	39	39	114	0.00	0.00	T	NM_020796		115782667	-1	10	28	8	28	tier1	no_errors	ENST00000257414	ensembl	human	known	74_37	missense	55.56	50.00	SNP	1.000	A	10	8
MORC1	27136	genome.wustl.edu	37	3	108698393	108698393	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108698393C>T	ENST00000483760.1	-	23	2426	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K	MORC1_ENST00000232603.5_Missense_Mutation_p.E816K					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACTGTTTCCTTGACAGGT	0.398													ENSG00000114487																																					0													117.0	121.0	120.0					3																	108698393		2203	4300	6503	SO:0001583	missense	0			-	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2383G>A	3.37:g.108698393C>T	ENSP00000417282:p.Glu795Lys			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.E816K	ENST00000483760.1	37	c.2446		3	.	.	.	.	.	.	.	.	.	.	C	9.822	1.186017	0.21870	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.09073	3.11;3.02	5.07	4.18	0.49190	.	0.000000	0.44688	D	0.000440	T	0.06234	0.0161	L	0.34521	1.04	0.32954	D	0.520095	B;B	0.27997	0.197;0.197	B;B	0.21708	0.036;0.036	T	0.11470	-1.0586	10	0.23891	T	0.37	-15.818	9.558	0.39351	0.0:0.9031:0.0:0.0969	.	795;816	E7ERX1;Q86VD1	.;MORC1_HUMAN	K	816;795	ENSP00000232603:E816K;ENSP00000417282:E795K	ENSP00000232603:E816K	E	-	1	0	MORC1	110181083	0.998000	0.40836	0.995000	0.50966	0.126000	0.20510	1.141000	0.31528	2.650000	0.89964	0.655000	0.94253	GAA	-	MORC1	-	NULL		0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	0	0	0	51	51	100	0.00	0.00	C			108698393	-1	20	41	40	69	tier1	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	33.33	37.27	SNP	0.998	T	20	40
MGAM	8972	genome.wustl.edu	37	7	141705366	141705366	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141705366G>A	ENST00000549489.2	+	2	131	c.36G>A	c.(34-36)ttG>ttA	p.L12L	MGAM_ENST00000475668.2_Silent_p.L12L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	12					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACTACTTTGGAGATTGTGC	0.303													ENSG00000257335																																					0													105.0	98.0	100.0					7																	141705366		1833	4090	5923	SO:0001819	synonymous_variant	0			-	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.36G>A	7.37:g.141705366G>A			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L12	ENST00000549489.2	37	c.36	CCDS47727.1	7																																																																																			-	MGAM	-	NULL		0.303	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	0	0	1	103	103	79	0.00	1.25	G			141705366	+1	19	18	43	52	tier1	no_errors	ENST00000549489	ensembl	human	known	74_37	silent	30.65	25.35	SNP	0.888	A	19	43
FUT9	10690	genome.wustl.edu	37	6	96651363	96651363	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:96651363G>A	ENST00000302103.5	+	3	658	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	111					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCCATCACCGAGACATCAGT	0.468													ENSG00000172461																									Melanoma(98;1369 1476 6592 22940 26587)												0													125.0	109.0	115.0					6																	96651363		2203	4300	6503	SO:0001583	missense	0			-	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.332G>A	6.37:g.96651363G>A	ENSP00000302599:p.Arg111Gln		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R111Q	ENST00000302103.5	37	c.332	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525396	0.85600	.	.	ENSG00000172461	ENST00000302103	T	0.25579	1.79	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.46952	-0.9154	10	0.44086	T	0.13	-7.5419	18.3049	0.90177	0.0:0.0:1.0:0.0	.	111	Q9Y231	FUT9_HUMAN	Q	111	ENSP00000302599:R111Q	ENSP00000302599:R111Q	R	+	2	0	FUT9	96758084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	CGA	-	FUT9	-	pfam_Glyco_trans_10		0.468	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	0	0	0	45	45	66	0.00	0.00	G	NM_006581		96651363	+1	33	41	18	36	tier1	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	64.71	51.90	SNP	1.000	A	33	18
NRAS	4893	genome.wustl.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			ENSG00000213281																												Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	1016	Substitution - Missense(1016)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)											180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	-	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>T	1.37:g.115256529T>A	ENSP00000358548:p.Gln61Leu		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q61L	ENST00000369535.4	37	c.182	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844732	0.91197	.	.	ENSG00000213281	ENST00000369535	D	0.83992	-1.79	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.92446	0.7602	H	0.96748	3.875	0.80722	D	1	D	0.55800	0.973	P	0.61533	0.89	D	0.94664	0.7851	10	0.72032	D	0.01	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	61	P01111	RASN_HUMAN	L	61	ENSP00000358548:Q61L	ENSP00000358548:Q61L	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA	rs11554290	NRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	HGNC	protein_coding	OTTHUMT00000033395.2	0	0	0	107	107	147	0.00	0.00	T	NM_002524		115256529	-1	56	74	59	60	tier1	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	48.70	54.41	SNP	1.000	A	56	59
PTPRA	5786	genome.wustl.edu	37	20	3016353	3016353	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:3016353C>T	ENST00000216877.6	+	20	2416	c.2016C>T	c.(2014-2016)acC>acT	p.T672T	PTPRA_ENST00000356147.3_Silent_p.T672T|PTPRA_ENST00000425918.2_Silent_p.T692T|PTPRA_ENST00000380393.3_Silent_p.T681T|PTPRA_ENST00000318266.5_Silent_p.T672T|PTPRA_ENST00000358719.4_Silent_p.T537T|PTPRA_ENST00000399903.2_Silent_p.T681T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	681	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCACCAACACCAGGGTAAGAT	0.537													ENSG00000132670																																					0													76.0	71.0	73.0					20																	3016353		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2016C>T	20.37:g.3016353C>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T692	ENST00000216877.6	37	c.2076	CCDS13039.1	20																																																																																			-	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.537	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	0	0	0	77	77	111	0.00	0.00	C			3016353	+1	38	36	57	79	tier1	no_errors	ENST00000425918	ensembl	human	known	74_37	silent	40.00	31.30	SNP	1.000	T	38	57
RALGAPB	57148	genome.wustl.edu	37	20	37150191	37150191	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:37150191C>T	ENST00000262879.6	+	10	1753	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	RALGAPB_ENST00000397040.1_Missense_Mutation_p.S490F|RALGAPB_ENST00000397042.3_Missense_Mutation_p.S490F|RALGAPB_ENST00000537204.1_Intron|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S268F			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	490					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S490F(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCACAAATGTCCACAGACACC	0.438													ENSG00000170471																																					1	Substitution - Missense(1)	kidney(1)											171.0	145.0	154.0					20																	37150191		2203	4300	6503	SO:0001583	missense	0			-	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1469C>T	20.37:g.37150191C>T	ENSP00000262879:p.Ser490Phe		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.S490F	ENST00000262879.6	37	c.1469	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440092	0.63067	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.69078	0.994;0.994;0.997;0.994	D;D;D;D	0.80764	0.989;0.989;0.994;0.989	T	0.66563	-0.5892	9	0.11794	T	0.64	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	318;490;490;490	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	F	490;490;490;268;490;318	.	ENSP00000262879:S490F	S	+	2	0	RALGAPB	36583605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.826000	0.97356	0.561000	0.74099	TCC	-	RALGAPB	-	NULL		0.438	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	0	0	0	95	95	136	0.00	0.00	C	NM_020336		37150191	+1	32	48	74	84	tier1	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	30.19	36.36	SNP	1.000	T	32	74
DNAH8	1769	genome.wustl.edu	37	6	38877410	38877410	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:38877410C>T	ENST00000359357.3	+	63	9233	c.8979C>T	c.(8977-8979)ttC>ttT	p.F2993F	DNAH8_ENST00000441566.1_Silent_p.F2957F|DNAH8_ENST00000449981.2_Silent_p.F3210F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2993	AAA 4. {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(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						CCTCCTACTTCCTTTCAGACT	0.448													ENSG00000124721																																					0													119.0	111.0	114.0					6																	38877410		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.8979C>T	6.37:g.38877410C>T			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.F2993	ENST00000359357.3	37	c.8979		6																																																																																			-	DH8	-	superfamily_P-loop_NTPase		0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DH8	HGNC	protein_coding	OTTHUMT00000043574.1	0	0	0	75	75	106	0.00	0.00	C	NM_001206927		38877410	+1	26	32	26	36	tier1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	50.00	47.06	SNP	1.000	T	26	26
ROBO2	6092	genome.wustl.edu	37	3	77542416	77542416	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:77542416G>A	ENST00000461745.1	+	5	1589	c.689G>A	c.(688-690)aGg>aAg	p.R230K	ROBO2_ENST00000487694.3_Missense_Mutation_p.R246K|ROBO2_ENST00000332191.8_Missense_Mutation_p.R230K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	230	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTCTCAGGAGGCCAATTAAC	0.378													ENSG00000185008																																					0													126.0	113.0	117.0					3																	77542416		1855	4109	5964	SO:0001583	missense	0			-	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.689G>A	3.37:g.77542416G>A	ENSP00000417164:p.Arg230Lys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R230K	ENST00000461745.1	37	c.689	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014250	0.93404	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.64803	-0.12;-0.12;-0.12	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	U	0.000170	T	0.59865	0.2225	N	0.04132	-0.27	0.35816	D	0.824218	D;D;D	0.69078	0.997;0.997;0.997	D;P;D	0.65323	0.934;0.891;0.934	T	0.61613	-0.7027	9	0.20519	T	0.43	.	20.2267	0.98341	0.0:0.0:1.0:0.0	.	246;230;230	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	K	246;246;246;230;230	ENSP00000417335:R246K;ENSP00000417164:R230K;ENSP00000327536:R230K	ENSP00000327536:R230K	R	+	2	0	ROBO2	77625106	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.992000	0.88273	2.791000	0.96007	0.491000	0.48974	AGG	-	ROBO2	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.378	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	0	0	0	62	62	91	0.00	0.00	G	XM_031246		77542416	+1	23	26	48	75	tier1	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	32.39	25.74	SNP	1.000	A	23	48
CADM2	253559	genome.wustl.edu	37	3	85851283	85851283	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:85851283G>A	ENST00000407528.2	+	2	210	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Missense_Mutation_p.D52N|CADM2_ENST00000383699.3_Missense_Mutation_p.D59N	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	50	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGATCAAAATGATAACACCTC	0.413													ENSG00000175161																																					0													87.0	73.0	78.0					3																	85851283		2203	4300	6503	SO:0001583	missense	0			-	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.148G>A	3.37:g.85851283G>A	ENSP00000384575:p.Asp50Asn		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.D52N	ENST00000407528.2	37	c.154	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.172452	0.94807	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.26957	1.7;1.7;1.7	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.87578	0.961;0.991;0.998	T	0.17561	-1.0365	10	0.23302	T	0.38	.	19.2384	0.93871	0.0:0.0:1.0:0.0	.	52;59;50	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	N	59;50;52	ENSP00000373200:D59N;ENSP00000384575:D50N;ENSP00000384193:D52N	ENSP00000373200:D59N	D	+	1	0	CADM2	85933973	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.420000	0.97426	2.621000	0.88768	0.544000	0.68410	GAT	-	CADM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.413	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	0	0	0	52	52	123	0.00	0.00	G	NM_153184		85851283	+1	39	62	32	81	tier1	no_errors	ENST00000405615	ensembl	human	known	74_37	missense	54.93	43.36	SNP	1.000	A	39	32
TNR	7143	genome.wustl.edu	37	1	175365934	175365934	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:175365934G>A	ENST00000367674.2	-	5	1694	c.986C>T	c.(985-987)cCa>cTa	p.P329L	TNR_ENST00000263525.2_Missense_Mutation_p.P329L			Q92752	TENR_HUMAN	tenascin R	329	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.P329R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAAGTCCTCTGGAGGGGCAAC	0.557													ENSG00000116147																																					1	Substitution - Missense(1)	lung(1)											74.0	77.0	76.0					1																	175365934		2203	4300	6503	SO:0001583	missense	0			-	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.986C>T	1.37:g.175365934G>A	ENSP00000356646:p.Pro329Leu		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.P329L	ENST00000367674.2	37	c.986	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589975	0.86851	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.79749	-1.3;-1.3	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.060171	0.64402	D	0.000003	D	0.89403	0.6705	M	0.80982	2.52	0.80722	D	1	D	0.55605	0.972	P	0.61070	0.883	D	0.87600	0.2496	10	0.38643	T	0.18	.	19.9698	0.97280	0.0:0.0:1.0:0.0	.	329	Q92752	TENR_HUMAN	L	329	ENSP00000356646:P329L;ENSP00000263525:P329L	ENSP00000263525:P329L	P	-	2	0	TNR	173632557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.168000	0.71908	2.817000	0.96982	0.563000	0.77884	CCA	-	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.557	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	0	0	0	42	42	87	0.00	0.00	G	NM_003285		175365934	-1	11	25	18	38	tier1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	37.93	39.68	SNP	1.000	A	11	18
KDM5C	8242	genome.wustl.edu	37	X	53222217	53222217	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:53222217G>A	ENST00000375401.3	-	26	5147	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	KDM5C_ENST00000404049.3_Missense_Mutation_p.P1538S|KDM5C_ENST00000375379.3_Missense_Mutation_p.P1536S|KDM5C_ENST00000375383.3_Missense_Mutation_p.P1495S|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1539					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTGGAGAAAGGGGCCGAGGGG	0.657			"""N, F, S"""		clear cell renal carcinoma								ENSG00000126012																												Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													30.0	29.0	29.0					X																	53222217		2202	4297	6499	SO:0001583	missense	0			-	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4615C>T	X.37:g.53222217G>A	ENSP00000364550:p.Pro1539Ser		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_D-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_D-bd	p.P1539S	ENST00000375401.3	37	c.4615	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	g	7.220	0.597247	0.13875	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.83250	-1.57;-1.57;-1.57;-1.7	3.24	2.36	0.29203	.	0.656632	0.12984	U	0.422986	T	0.60560	0.2278	N	0.03608	-0.345	0.53688	D	0.999975	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49312	-0.8953	10	0.21540	T	0.41	-0.8039	7.0884	0.25270	0.0:0.0:0.733:0.267	.	1538;1539	B0QZ44;P41229	.;KDM5C_HUMAN	S	1539;1538;1536;1495	ENSP00000364550:P1539S;ENSP00000385394:P1538S;ENSP00000364528:P1536S;ENSP00000364532:P1495S	ENSP00000364528:P1536S	P	-	1	0	KDM5C	53238942	0.843000	0.29541	0.933000	0.37362	0.584000	0.36387	0.259000	0.18405	0.768000	0.33290	0.407000	0.27541	CCT	-	KDM5C	-	NULL		0.657	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	0	0	0	43	43	28	0.00	0.00	G	NM_004187		53222217	-1	31	27	4	12	tier1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	88.57	69.23	SNP	0.861	A	31	4
ESYT3	83850	genome.wustl.edu	37	3	138183346	138183346	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:138183346G>A	ENST00000389567.4	+	9	1261	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	359	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CACCTGGAACGAAGTGTTTGA	0.582													ENSG00000158220																																					0													98.0	80.0	86.0					3																	138183346		2203	4300	6503	SO:0001583	missense	0			-	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1075G>A	3.37:g.138183346G>A	ENSP00000374218:p.Glu359Lys		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.E359K	ENST00000389567.4	37	c.1075	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958429	0.92726	.	.	ENSG00000158220	ENST00000389567	T	0.77750	-1.12	4.79	4.79	0.61399	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058163	0.64402	D	0.000002	D	0.89494	0.6731	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91415	0.5154	10	0.87932	D	0	-14.1733	15.3685	0.74541	0.0:0.0:1.0:0.0	.	359	A0FGR9	ESYT3_HUMAN	K	359	ENSP00000374218:E359K	ENSP00000374218:E359K	E	+	1	0	ESYT3	139666036	1.000000	0.71417	0.931000	0.37212	0.893000	0.52053	8.650000	0.91073	2.492000	0.84095	0.455000	0.32223	GAA	-	ESYT3	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom		0.582	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	0	0	0	36	36	116	0.00	0.00	G	NM_031913		138183346	+1	11	82	16	84	tier1	no_errors	ENST00000389567	ensembl	human	known	74_37	missense	40.74	49.40	SNP	0.998	A	11	16
COL4A4	1286	genome.wustl.edu	37	2	227927264	227927264	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:227927264C>T	ENST00000396625.3	-	26	2245	c.2038G>A	c.(2038-2040)Ggt>Agt	p.G680S	COL4A4_ENST00000329662.7_Missense_Mutation_p.G680S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	680	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCATCAAAACCTGGAGGGCCA	0.428													ENSG00000081052																																					0													60.0	58.0	58.0					2																	227927264		1840	4096	5936	SO:0001583	missense	0			-		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2038G>A	2.37:g.227927264C>T	ENSP00000379866:p.Gly680Ser		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G680S	ENST00000396625.3	37	c.2038	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307434	0.81247	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99329	-5.75;-5.75	6.16	6.16	0.99307	.	.	.	.	.	D	0.99603	0.9856	H	0.94964	3.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98243	1.0489	9	0.72032	D	0.01	.	17.5791	0.87960	0.0:1.0:0.0:0.0	.	680	P53420	CO4A4_HUMAN	S	680	ENSP00000379866:G680S;ENSP00000328553:G680S	ENSP00000328553:G680S	G	-	1	0	COL4A4	227635508	0.992000	0.36948	0.994000	0.49952	0.699000	0.40488	4.678000	0.61641	2.937000	0.99478	0.650000	0.86243	GGT	-	COL4A4	-	pfam_Collagen		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	0	0	0	118	118	76	0.00	0.00	C	NM_000092		227927264	-1	14	13	56	53	tier1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	20.00	19.70	SNP	1.000	T	14	56
FRMPD2	143162	genome.wustl.edu	37	10	49430457	49430457	+	Missense_Mutation	SNP	G	G	A	rs141989722		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:49430457G>A	ENST00000374201.3	-	12	1656	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	FRMPD2_ENST00000305531.3_Missense_Mutation_p.R428W|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R421W	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	452	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATATCTTTCCGAAGCTGCAGG	0.502													ENSG00000170324																																					0								G	TRP/ARG	0,4406		0,0,2203	106.0	92.0	96.0		1354	4.5	1.0	10	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	FRMPD2	NM_001018071.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	452/1310	49430457	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1354C>T	10.37:g.49430457G>A	ENSP00000363317:p.Arg452Trp		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.R452W	ENST00000374201.3	37	c.1354	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841612	0.71488	0.0	1.16E-4	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39787	1.06;1.06;1.06	5.4	4.48	0.54585	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.71945	0.3400	M	0.93978	3.48	0.47123	D	0.999324	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.79662	-0.1710	9	0.87932	D	0	.	13.1266	0.59358	0.0:0.0:0.8387:0.1613	.	428;452;421	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	W	452;428;421	ENSP00000363317:R452W;ENSP00000307079:R428W;ENSP00000384339:R421W	ENSP00000307079:R428W	R	-	1	2	FRMPD2	49100463	0.996000	0.38824	0.984000	0.44739	0.991000	0.79684	2.160000	0.42348	1.243000	0.43853	0.555000	0.69702	CGG	rs141989722	FRMPD2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.502	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	0	0	0	70	70	143	0.00	0.00	G	NM_152428		49430457	-1	20	57	29	24	tier1	no_errors	ENST00000374201	ensembl	human	known	74_37	missense	40.00	70.37	SNP	0.985	A	20	29
MTERF4	130916	genome.wustl.edu	37	2	242039046	242039046	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:242039046G>A	ENST00000391980.2	-	2	343	c.285C>T	c.(283-285)gtC>gtT	p.V95V	MTERFD2_ENST00000407095.3_Silent_p.V95V|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Silent_p.V95V	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		95					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGGAACTCATGACCCTCTCTA	0.507													ENSG00000122085																																					0													118.0	117.0	117.0					2																	242039046		2203	4300	6503	SO:0001819	synonymous_variant	0			-																												ENST00000391980.2:c.285C>T	2.37:g.242039046G>A			A8K6K0|Q9P0E0	Silent	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.V95	ENST00000391980.2	37	c.285	CCDS2544.1	2																																																																																			-	MTERFD2	-	pfam_Mit_transcrip_term-rel		0.507	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323798.4	0	0	0	38	38	102	0.00	0.00	G			242039046	-1	16	17	22	38	tier1	no_errors	ENST00000241527	ensembl	human	known	74_37	silent	42.11	30.91	SNP	0.000	A	16	22
ABCC8	6833	genome.wustl.edu	37	11	17429953	17429953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:17429953G>A	ENST00000389817.3	-	23	2874	c.2806C>T	c.(2806-2808)Caa>Taa	p.Q936*	ABCC8_ENST00000302539.4_Nonsense_Mutation_p.Q937*			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	936					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCCAGCTCTTGGTCCTGTCGG	0.542													ENSG00000006071																																					0													98.0	90.0	93.0					11																	17429953		2200	4293	6493	SO:0001587	stop_gained	0			-	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2806C>T	11.37:g.17429953G>A	ENSP00000374467:p.Gln936*		A6NMX8|E3UYX6|O75948|Q16583	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q937*	ENST00000389817.3	37	c.2809	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.898485	0.98994	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	.	.	.	X	936;937;940	.	ENSP00000303960:Q937X	Q	-	1	0	ABCC8	17386529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.154000	0.71826	2.873000	0.98535	0.563000	0.77884	CAA	-	ABCC8	-	NULL		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	0	0	0	49	49	126	0.00	0.00	G	NM_000352		17429953	-1	20	61	17	39	tier1	no_errors	ENST00000302539	ensembl	human	known	74_37	nonsense	54.05	61.00	SNP	1.000	A	20	17
FSIP2	401024	genome.wustl.edu	37	2	186657368	186657368	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186657368G>A	ENST00000424728.1	+	16	5505	c.5505G>A	c.(5503-5505)tcG>tcA	p.S1835S	FSIP2_ENST00000343098.5_Silent_p.S1924S|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1835										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTTACTTTCGGAAGCAGATA	0.358													ENSG00000188738																																					0																																										SO:0001819	synonymous_variant	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5505G>A	2.37:g.186657368G>A			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.S1924	ENST00000424728.1	37	c.5772		2																																																																																			-	FSIP2	-	NULL		0.358	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0	0	119	119	154	0.00	0.00	G	NM_173651		186657368	+1	31	24	75	91	tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	29.25	20.87	SNP	0.980	A	31	75
SIPA1L2	57568	genome.wustl.edu	37	1	232568109	232568109	+	Silent	SNP	G	G	A	rs374952058		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:232568109G>A	ENST00000366630.1	-	15	4498	c.4140C>T	c.(4138-4140)ccC>ccT	p.P1380P	SIPA1L2_ENST00000262861.4_Silent_p.P1380P|SIPA1L2_ENST00000308942.4_Silent_p.P454P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1380	Ser-rich.				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)				ACATGGACCCGGGAACCTGTT	0.542													ENSG00000116991																																					0								A		0,3920		0,0,1960	108.0	106.0	107.0		4140	-11.8	0.0	1		107	5,8317		0,5,4156	no	coding-synonymous	SIPA1L2	NM_020808.3		0,5,6116	AA,AG,GG		0.0601,0.0,0.0408		1380/1723	232568109	5,12237	1960	4161	6121	SO:0001819	synonymous_variant	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.4140C>T	1.37:g.232568109G>A			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P1380	ENST00000366630.1	37	c.4140	CCDS41474.1	1																																																																																			-	SIPA1L2	-	NULL		0.542	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	0	0	0	60	60	130	0.00	0.00	G	XM_045839		232568109	-1	20	39	42	51	tier1	no_errors	ENST00000262861	ensembl	human	known	74_37	silent	32.26	43.33	SNP	0.003	A	20	42
CCDC33	80125	genome.wustl.edu	37	15	74510900	74510900	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:74510900G>A	ENST00000321288.5	+	2	373	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RP11-60L3.1_ENST00000559243.1_RNA|RP11-60L3.1_ENST00000560148.1_RNA			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	125										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGGCTGGACGAACCCTTGGG	0.607													ENSG00000140481																																					0																																										SO:0001583	missense	0			-	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000321288.5:c.373G>A	15.37:g.74510900G>A	ENSP00000325012:p.Glu125Lys		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.E125K	ENST00000321288.5	37	c.373		15	.	.	.	.	.	.	.	.	.	.	G	2.106	-0.404806	0.04832	.	.	ENSG00000140481	ENST00000321288	T	0.17528	2.27	4.08	2.01	0.26516	.	.	.	.	.	T	0.14614	0.0353	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28650	-1.0037	6	0.30078	T	0.28	.	7.8539	0.29470	0.2893:0.0:0.7107:0.0	.	.	.	.	K	125	ENSP00000325012:E125K	ENSP00000325012:E125K	E	+	1	0	CCDC33	72297953	0.186000	0.23225	0.005000	0.12908	0.007000	0.05969	0.796000	0.26986	0.362000	0.24319	0.637000	0.83480	GAA	-	CCDC33	-	NULL		0.607	CCDC33-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC33	HGNC	protein_coding		0	0	0	52	52	25	0.00	0.00	G	NM_182791		74510900	+1	31	16	21	19	tier1	no_errors	ENST00000321288	ensembl	human	known	74_37	missense	59.62	45.71	SNP	0.009	A	31	21
CACNA1C	775	genome.wustl.edu	37	12	2786885	2786885	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:2786885C>T	ENST00000347598.4	+	43	5100				CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399641.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCATCCTCCCCTTGGATTC	0.642													ENSG00000246627																																					0													28.0	33.0	32.0					12																	2786885		2126	4235	6361	SO:0001627	intron_variant	0			-	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5101-14C>T	12.37:g.2786885C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	R	SNP	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			-	CAC1C-AS1	-	-		0.642	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CAC1C-AS1	HGNC	protein_coding	OTTHUMT00000317035.1	0	0	0	92	92	70	0.00	0.00	C	NM_000719		2786885	-1	15	18	75	69	tier1	no_errors	ENST00000501371	ensembl	human	known	74_37	rna	16.67	20.69	SNP	0.156	T	15	75
ZNF385B	151126	genome.wustl.edu	37	2	180348039	180348039	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:180348039G>A	ENST00000410066.1	-	6	1233	c.630C>T	c.(628-630)tgC>tgT	p.C210C	ZNF385B_ENST00000336917.5_Silent_p.C108C|ZNF385B_ENST00000409343.1_Silent_p.C134C|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.C108C	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	210	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GAGTGATGGAGCAGCTGGGAT	0.448													ENSG00000144331																									Colon(155;204 2491 32774 51842)												0													337.0	266.0	290.0					2																	180348039		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.630C>T	2.37:g.180348039G>A			Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.C210	ENST00000410066.1	37	c.630	CCDS33339.1	2																																																																																			-	ZNF385B	-	NULL		0.448	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1	0	0	0	88	88	144	0.00	0.00	G	NM_152520		180348039	-1	26	22	91	70	tier1	no_errors	ENST00000410066	ensembl	human	known	74_37	silent	22.22	23.91	SNP	1.000	A	26	91
GPR98	84059	genome.wustl.edu	37	5	89936636	89936636	+	Intron	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:89936636T>A	ENST00000405460.2	+	12	2336					NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCCCACACTTCTTTCTGTGT	0.368													ENSG00000164199																																					0																																										SO:0001627	intron_variant	0			-	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2241-1817T>A	5.37:g.89936636T>A			O75171|Q8TF58|Q9H0X5|Q9UL61	R	SNP	-	NULL	ENST00000405460.2	37	NULL	CCDS47246.1	5																																																																																			-	GPR98	-	-		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	0	0	0	80	80	142	0.00	0.00	T	NM_032119		89936636	+1	30	36	22	26	tier1	no_errors	ENST00000512205	ensembl	human	known	74_37	rna	57.69	58.06	SNP	0.994	A	30	22
PTPRCAP	5790	genome.wustl.edu	37	11	67203474	67203474	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:67203474G>A	ENST00000326294.3	-	2	798	c.351C>T	c.(349-351)caC>caT	p.H117H	CORO1B_ENST00000539724.1_5'Flank|AP003419.16_ENST00000535922.1_RNA	NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	117					defense response (GO:0006952)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CATCCGCGACGTGGTCATAGT	0.662													ENSG00000213402																																					0													77.0	60.0	66.0					11																	67203474		2200	4295	6495	SO:0001819	synonymous_variant	0			-		CCDS8163.1	11q13.2	2011-06-09			ENSG00000213402	ENSG00000213402			9667	protein-coding gene	gene with protein product		601577					Standard	NM_005608		Approved	LPAP, CD45-AP	uc001oli.1	Q14761	OTTHUMG00000150325	ENST00000326294.3:c.351C>T	11.37:g.67203474G>A			B2R512|O00643|Q6I9S6	Silent	SNP	pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP	p.H117	ENST00000326294.3	37	c.351	CCDS8163.1	11																																																																																			-	PTPRCAP	-	pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP		0.662	PTPRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRCAP	HGNC	protein_coding	OTTHUMT00000317563.1	0	0	0	32	32	52	0.00	0.00	G	NM_005608		67203474	-1	17	18	38	31	tier1	no_errors	ENST00000326294	ensembl	human	known	74_37	silent	30.91	36.73	SNP	0.000	A	17	38
WDR70	55100	genome.wustl.edu	37	5	37752596	37752596	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:37752596C>T	ENST00000265107.4	+	18	2042	c.1886C>T	c.(1885-1887)cCc>cTc	p.P629L		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	629							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGACTCAGCCCAAAACCATG	0.353													ENSG00000082068																																					0													90.0	88.0	89.0					5																	37752596		2203	4300	6503	SO:0001583	missense	0			-	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1886C>T	5.37:g.37752596C>T	ENSP00000265107:p.Pro629Leu		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P629L	ENST00000265107.4	37	c.1886	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585161	0.86748	.	.	ENSG00000082068	ENST00000265107	D	0.87412	-2.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95164	0.8284	10	0.87932	D	0	-50.4988	19.4518	0.94871	0.0:1.0:0.0:0.0	.	629	Q9NW82	WDR70_HUMAN	L	629	ENSP00000265107:P629L	ENSP00000265107:P629L	P	+	2	0	WDR70	37788353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.454000	0.66651	2.764000	0.94973	0.650000	0.86243	CCC	-	WDR70	-	NULL		0.353	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	0	0	0	98	98	89	0.00	0.00	C	NM_018034		37752596	+1	23	17	90	55	tier1	no_errors	ENST00000265107	ensembl	human	known	74_37	missense	20.35	23.61	SNP	1.000	T	23	90
LRP1B	53353	genome.wustl.edu	37	2	141232776	141232776	+	Missense_Mutation	SNP	G	G	A	rs567834250		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:141232776G>A	ENST00000389484.3	-	60	10527	c.9556C>T	c.(9556-9558)Cgt>Tgt	p.R3186C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3186					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)	p.R3186C(1)		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)		TAGAGTCTACGATTAACATAA	0.378										TSP Lung(27;0.18)			ENSG00000168702	G|||	1	0.000199681	0.0008	0.0	5008	,	,		11800	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	large_intestine(1)											108.0	99.0	102.0					2																	141232776		2203	4300	6503	SO:0001583	missense	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.9556C>T	2.37:g.141232776G>A	ENSP00000374135:p.Arg3186Cys		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	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.R3186C	ENST00000389484.3	37	c.9556	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031683	0.54790	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95238	-3.65	5.63	4.68	0.58851	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.441686	0.23558	N	0.046884	D	0.91449	0.7301	L	0.53729	1.69	0.30807	N	0.739218	B	0.32893	0.389	B	0.25291	0.059	D	0.91358	0.5109	10	0.62326	D	0.03	.	13.7778	0.63064	0.0:0.0:0.735:0.265	.	3186	Q9NZR2	LRP1B_HUMAN	C	3186;3124	ENSP00000374135:R3186C	ENSP00000374135:R3186C	R	-	1	0	LRP1B	140949246	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	2.706000	0.47135	2.653000	0.90120	0.650000	0.86243	CGT	-	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	0	0	0	49	49	75	0.00	0.00	G	NM_018557		141232776	-1	12	16	41	67	tier1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	22.64	19.28	SNP	0.994	A	12	41
LILRB4	11006	genome.wustl.edu	37	19	55177330	55177330	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55177330C>T	ENST00000391736.1	+	9	1137	c.822C>T	c.(820-822)ctC>ctT	p.L274L	LILRB4_ENST00000391733.3_Silent_p.L274L|LILRB4_ENST00000430952.2_Silent_p.L274L|LILRB4_ENST00000391734.3_Silent_p.L274L|LILRB4_ENST00000270452.2_Silent_p.L274L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	274					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ttctctccctcctcctcttcc	0.572													ENSG00000186818																																					0													236.0	133.0	168.0					19																	55177330		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.822C>T	19.37:g.55177330C>T			A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	pfam_Immunoglobulin,pfscan_Ig-like_dom	p.L274	ENST00000391736.1	37	c.822	CCDS12902.1	19																																																																																			-	LILRB4	-	NULL		0.572	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	0	0	0	37	37	45	0.00	0.00	C			55177330	+1	7	8	18	32	tier1	no_errors	ENST00000270452	ensembl	human	known	74_37	silent	28.00	20.00	SNP	0.009	T	7	18
OR10G9	219870	genome.wustl.edu	37	11	123894401	123894401	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:123894401C>T	ENST00000375024.1	+	1	682	c.682C>T	c.(682-684)Cac>Tac	p.H228Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	228			H -> R (in dbSNP:rs12221656).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTGCGGATCCACACCTCAGA	0.527													ENSG00000236981																																					0													169.0	146.0	154.0					11																	123894401		2201	4299	6500	SO:0001583	missense	0			-	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.682C>T	11.37:g.123894401C>T	ENSP00000364164:p.His228Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H228Y	ENST00000375024.1	37	c.682	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	C	7.635	0.679669	0.14907	.	.	ENSG00000236981	ENST00000375024	T	0.37915	1.17	3.44	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.566353	0.16067	N	0.231209	T	0.33059	0.0850	L	0.56199	1.76	0.09310	N	0.999997	B	0.21452	0.056	B	0.31191	0.125	T	0.27872	-1.0061	10	0.40728	T	0.16	.	6.9582	0.24583	0.0:0.7768:0.0:0.2232	.	228	Q8NGN4	O10G9_HUMAN	Y	228	ENSP00000364164:H228Y	ENSP00000364164:H228Y	H	+	1	0	OR10G9	123399611	0.000000	0.05858	0.997000	0.53966	0.245000	0.25701	0.313000	0.19415	0.794000	0.33899	0.650000	0.86243	CAC	-	OR10G9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	0	0	0	98	98	15	0.00	0.00	C	NM_001001953		123894401	+1	16	4	65	19	tier1	no_errors	ENST00000375024	ensembl	human	known	74_37	missense	19.75	17.39	SNP	0.998	T	16	65
CARD11	84433	genome.wustl.edu	37	7	2987421	2987421	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:2987421C>T	ENST00000396946.4	-	3	411	c.8G>A	c.(7-9)gGa>gAa	p.G3E	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	3					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGCCCTCCTCCTTTTAGACA	0.458			Mis		DLBCL								ENSG00000198286																												Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													147.0	134.0	138.0					7																	2987421		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.8-1G>A	7.37:g.2987421C>T			A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.G3E	ENST00000396946.4	37	c.8	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251033	0.22880	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.61040	1.09;0.14	4.77	4.77	0.60923	.	0.485158	0.21058	N	0.080871	T	0.48466	0.1501	L	0.40543	1.245	0.50039	D	0.999844	B	0.23128	0.08	B	0.24155	0.051	T	0.41324	-0.9515	10	0.27785	T	0.31	.	13.3121	0.60386	0.0:1.0:0.0:0.0	.	3	Q9BXL7	CAR11_HUMAN	E	3	ENSP00000380150:G3E;ENSP00000348779:G3E	ENSP00000348779:G3E	G	-	2	0	CARD11	2953947	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	1.233000	0.32648	2.193000	0.70182	0.561000	0.74099	GGA	-	CARD11	-	NULL		0.458	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	0	0	0	67	67	110	0.00	0.00	C	NM_032415	Missense_Mutation	2987421	-1	36	46	30	63	tier1	no_errors	ENST00000396946	ensembl	human	known	74_37	missense	54.55	42.20	SNP	1.000	T	36	30
COG7	91949	genome.wustl.edu	37	16	23457242	23457242	+	Silent	SNP	G	G	A	rs543986842		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23457242G>A	ENST00000307149.5	-	2	395	c.210C>T	c.(208-210)ctC>ctT	p.L70L	CTD-2270L9.2_ENST00000561624.2_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	70					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAACATCACGGAGCACTTTGG	0.383													ENSG00000168434																																					0													115.0	102.0	107.0					16																	23457242		2197	4300	6497	SO:0001819	synonymous_variant	0			-	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.210C>T	16.37:g.23457242G>A			Q6UWU7	Silent	SNP	pfam_COG7	p.L70	ENST00000307149.5	37	c.210	CCDS10610.1	16																																																																																			-	COG7	-	pfam_COG7		0.383	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1	0	0	0	86	86	51	0.00	0.00	G			23457242	-1	24	22	47	39	tier1	no_errors	ENST00000307149	ensembl	human	known	74_37	silent	33.80	36.07	SNP	0.972	A	24	47
SERPINA3	12	genome.wustl.edu	37	14	95085653	95085653	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:95085653G>A	ENST00000467132.1	+	3	1913	c.765G>A	c.(763-765)cgG>cgA	p.R255R	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Silent_p.R255R|SERPINA3_ENST00000482740.1_Silent_p.R37R|SERPINA3_ENST00000393080.4_Silent_p.R255R			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	255					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTTACTTCCGGGACGAGGAGC	0.507													ENSG00000196136																																					0													126.0	94.0	105.0					14																	95085653		2203	4300	6503	SO:0001819	synonymous_variant	0			-	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.765G>A	14.37:g.95085653G>A			B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R255	ENST00000467132.1	37	c.765	CCDS32150.1	14																																																																																			-	SERPI3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.507	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPI3	HGNC	protein_coding	OTTHUMT00000268080.3	0	0	0	63	63	84	0.00	0.00	G	NM_001085		95085653	+1	22	35	38	38	tier1	no_errors	ENST00000393078	ensembl	human	known	74_37	silent	36.67	47.95	SNP	0.970	A	22	38
P2RY10	27334	genome.wustl.edu	37	X	78216519	78216519	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:78216519C>T	ENST00000171757.2	+	4	782	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	P2RY10_ENST00000544091.1_Missense_Mutation_p.P168S|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTTGCCATTTCCCATCCTGAG	0.502													ENSG00000078589																																					0													118.0	98.0	105.0					X																	78216519		2203	4300	6503	SO:0001583	missense	0			-	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.502C>T	X.37:g.78216519C>T	ENSP00000171757:p.Pro168Ser		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P168S	ENST00000171757.2	37	c.502	CCDS14442.1	X	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350995	0.24512	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.36878	1.23;1.23	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.118215	0.56097	D	0.000022	T	0.51160	0.1658	L	0.47016	1.485	0.39493	D	0.968072	D	0.76494	0.999	D	0.75020	0.985	T	0.44221	-0.9342	10	0.25106	T	0.35	.	15.7747	0.78204	0.0:1.0:0.0:0.0	.	168	O00398	P2Y10_HUMAN	S	168	ENSP00000443138:P168S;ENSP00000171757:P168S	ENSP00000171757:P168S	P	+	1	0	P2RY10	78103175	0.675000	0.27558	0.995000	0.50966	0.252000	0.25951	0.820000	0.27323	2.290000	0.77057	0.422000	0.28245	CCC	-	P2RY10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	0	0	0	29	29	67	0.00	0.00	C			78216519	+1	16	43	7	25	tier1	no_errors	ENST00000171757	ensembl	human	known	74_37	missense	69.57	63.24	SNP	0.999	T	16	7
MAPK3	5595	genome.wustl.edu	37	16	30129061	30129061	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:30129061C>T	ENST00000263025.4	-	5	789	c.705G>A	c.(703-705)ctG>ctA	p.L235L	MAPK3_ENST00000395199.3_Silent_p.L235L|MAPK3_ENST00000395202.1_Silent_p.L235L|MAPK3_ENST00000484663.1_Silent_p.L121L|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000403394.1_Silent_p.L235L|MAPK3_ENST00000322266.5_Silent_p.L235L|MAPK3_ENST00000395200.1_Silent_p.L167L	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|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)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	GCATCTCAGCCAGAATGCAGC	0.602													ENSG00000102882																																					0													119.0	116.0	117.0					16																	30129061		2197	4300	6497	SO:0001819	synonymous_variant	0			-	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.705G>A	16.37:g.30129061C>T			A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.L235	ENST00000263025.4	37	c.705	CCDS10672.1	16	.	.	.	.	.	.	.	.	.	.	C	9.810	1.182800	0.21870	.	.	ENSG00000102882	ENST00000495629	.	.	.	5.97	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.3064	6.0439	0.19750	0.131:0.6477:0.1419:0.0793	.	.	.	.	X	196	.	.	W	-	2	0	MAPK3	30036562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.069000	0.41481	2.837000	0.97791	0.655000	0.94253	TGG	-	MAPK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.602	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	HGNC	protein_coding	OTTHUMT00000255196.2	0	0	0	39	39	114	0.00	0.00	C			30129061	-1	22	52	39	80	tier1	no_errors	ENST00000263025	ensembl	human	known	74_37	silent	36.07	39.39	SNP	1.000	T	22	39
HAS2	3037	genome.wustl.edu	37	8	122629392	122629392	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:122629392C>T	ENST00000303924.4	-	3	1219	c.682G>A	c.(682-684)Gtt>Att	p.V228I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	228					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTTCTAAAACTTTTACCATC	0.393													ENSG00000170961																																					0													142.0	133.0	136.0					8																	122629392		2203	4300	6503	SO:0001583	missense	0			-	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.682G>A	8.37:g.122629392C>T	ENSP00000306991:p.Val228Ile		Q32MM3	Missense_Mutation	SNP	pfam_Chitin_synth_fng	p.V228I	ENST00000303924.4	37	c.682	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030632	0.75504	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59224	0.28	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	N	0.22421	0.69	0.80722	D	1	B	0.26672	0.156	B	0.30943	0.122	T	0.36817	-0.9732	10	0.25751	T	0.34	-18.3896	19.3687	0.94475	0.0:1.0:0.0:0.0	.	228	Q92819	HAS2_HUMAN	I	228	ENSP00000306991:V228I	ENSP00000306991:V228I	V	-	1	0	HAS2	122698573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.671000	0.61590	2.573000	0.86826	0.561000	0.74099	GTT	-	HAS2	-	pfam_Chitin_synth_fng		0.393	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	0	0	0	66	66	111	0.00	0.00	C	NM_005328		122629392	-1	22	33	79	156	tier1	no_errors	ENST00000303924	ensembl	human	known	74_37	missense	21.78	17.46	SNP	1.000	T	22	79
ANK3	288	genome.wustl.edu	37	10	61955932	61955932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61955932G>A	ENST00000280772.2	-	16	2049	c.1858C>T	c.(1858-1860)Caa>Taa	p.Q620*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q614*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q603*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	620					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAGGCTCCTTGGTCCAAAAGC	0.488													ENSG00000151150																																					0													141.0	105.0	117.0					10																	61955932		2203	4300	6503	SO:0001587	stop_gained	0			-	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1858C>T	10.37:g.61955932G>A	ENSP00000280772:p.Gln620*		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.Q620*	ENST00000280772.2	37	c.1858	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	42	9.639635	0.99226	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	.	.	.	5.91	5.91	0.95273	.	0.000000	0.37669	N	0.001986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0617	0.71961	0.0:0.0:0.8582:0.1418	.	.	.	.	X	620;614;603;582;281;281;164	.	ENSP00000280772:Q620X	Q	-	1	0	ANK3	61625938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.640000	0.67875	2.793000	0.96121	0.655000	0.94253	CAA	-	ANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	0	0	0	72	72	130	0.00	0.00	G	NM_020987		61955932	-1	41	60	18	26	tier1	no_errors	ENST00000280772	ensembl	human	known	74_37	nonsense	69.49	69.77	SNP	1.000	A	41	18
SRSF11	9295	genome.wustl.edu	37	1	70705161	70705161	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:70705161C>T	ENST00000370950.3	+	8	840	c.758C>T	c.(757-759)tCa>tTa	p.S253L	SRSF11_ENST00000370951.1_Missense_Mutation_p.S253L|SRSF11_ENST00000405432.1_Missense_Mutation_p.S253L|SRSF11_ENST00000370949.1_Missense_Mutation_p.S193L|SRSF11_ENST00000484162.1_3'UTR			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	253	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.|Poly-Arg.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						AGATCAAGATCACGTTCTAGG	0.348													ENSG00000116754																																					0													124.0	129.0	127.0					1																	70705161		2203	4300	6503	SO:0001583	missense	0			-	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.758C>T	1.37:g.70705161C>T	ENSP00000359988:p.Ser253Leu		Q5T758|Q8IWE6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S253L	ENST00000370950.3	37	c.758	CCDS647.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073291	0.76415	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;T;T	0.84730	-1.89;-1.89;-1.89;1.91;1.91	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.63880	0.989;0.993;0.993;0.981	D;D;D;D	0.75020	0.985;0.977;0.977;0.966	D	0.93188	0.6580	10	0.66056	D	0.02	.	19.3105	0.94186	0.0:1.0:0.0:0.0	.	193;253;253;253	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	L	253;253;253;253;193	ENSP00000359989:S253L;ENSP00000359988:S253L;ENSP00000384357:S253L;ENSP00000378568:S253L;ENSP00000359987:S193L	ENSP00000359987:S193L	S	+	2	0	SRSF11	70477749	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.157000	0.77461	2.664000	0.90586	0.655000	0.94253	TCA	-	SRSF11	-	NULL		0.348	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	0	0	0	92	92	92	0.00	0.00	C	NM_004768		70705161	+1	59	53	48	57	tier1	no_errors	ENST00000370950	ensembl	human	known	74_37	missense	55.14	48.18	SNP	1.000	T	59	48
CHRND	1144	genome.wustl.edu	37	2	233396255	233396255	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:233396255C>T	ENST00000258385.3	+	9	968	c.936C>T	c.(934-936)ttC>ttT	p.F312F	CHRND_ENST00000543200.1_Silent_p.F297F|CHRND_ENST00000457943.2_Silent_p.F118F|CHRND_ENST00000536614.1_3'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	312					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCCACAGGTTCCTGCTCTTCG	0.597													ENSG00000135902																																					0													132.0	129.0	130.0					2																	233396255		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.936C>T	2.37:g.233396255C>T			A8K661|B4DT92|Q52LH4	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F312	ENST00000258385.3	37	c.936	CCDS2494.1	2																																																																																			-	CHRND	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.597	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	0	0	0	36	36	74	0.00	0.00	C			233396255	+1	11	8	19	42	tier1	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	36.67	16.00	SNP	0.997	T	11	19
TMCO5B	100652857	genome.wustl.edu	37	15	33528900	33528900	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:33528900G>A	ENST00000529696.1	-	0	420							A8MYB1	TMC5B_HUMAN	transmembrane and coiled-coil domains 5B, pseudogene							integral component of membrane (GO:0016021)											gaatagcagagaccctggagt	0.473													ENSG00000215296																																					0																																												0			-			15q13.3	2013-09-26	2010-09-29		ENSG00000215296	ENSG00000215296			34243	pseudogene	pseudogene			"""transmembrane and coiled-coil domains 5B"""				Standard	NR_046005		Approved		uc031qri.1	A8MYB1	OTTHUMG00000167569		15.37:g.33528900G>A				R	SNP	-	NULL	ENST00000529696.1	37	NULL		15																																																																																			-	TMCO5B	-	-		0.473	TMCO5B-001	KNOWN	basic	processed_transcript	TMCO5B	HGNC	pseudogene	OTTHUMT00000395082.1	0	0	0	61	61	141	0.00	0.00	G			33528900	-1	20	37	15	31	tier1	no_errors	ENST00000529696	ensembl	human	known	74_37	rna	57.14	54.41	SNP	0.017	A	20	15
CSMD1	64478	genome.wustl.edu	37	8	3087730	3087730	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:3087730C>T	ENST00000520002.1	-	28	4735	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	CSMD1_ENST00000537824.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D1394N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1394N|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1393N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D1394N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1394	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATACCTGGATCGTTACAGGTG	0.517													ENSG00000183117																																					0													58.0	57.0	57.0					8																	3087730		2000	4194	6194	SO:0001583	missense	0			-			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4180G>A	8.37:g.3087730C>T	ENSP00000430733:p.Asp1394Asn		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D1394N	ENST00000520002.1	37	c.4180		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.170291|4.170291	0.78452|0.78452	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16|.	6.1|6.1	6.1|6.1	0.99115|0.99115	Complement control module (2);Sushi/SCR/CCP (3);|.	0.131490|.	0.48286|.	D|.	0.000181|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.982;0.999|.	T|T	0.70502|0.70502	-0.4854|-0.4854	10|5	0.72032|.	D|.	0.01|.	.|.	20.7146|20.7146	0.99709|0.99709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1394;1394;1394|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	N|Q	1394;1394;1256;1393;1393;1393|873	ENSP00000383047:D1394N;ENSP00000430733:D1394N;ENSP00000441462:D1393N;ENSP00000446243:D1393N;ENSP00000441675:D1393N|.	ENSP00000320445:D1256N|.	D|R	-|-	1|2	0|0	CSMD1|CSMD1	3075137|3075137	1.000000|1.000000	0.71417|0.71417	0.627000|0.627000	0.29227|0.29227	0.068000|0.068000	0.16541|0.16541	7.634000|7.634000	0.83273|0.83273	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	GAT|CGA	-	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	0	0	0	62	62	154	0.00	0.00	C	NM_033225		3087730	-1	32	52	23	28	tier1	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	58.18	65.00	SNP	1.000	T	32	23
CHD2	1106	genome.wustl.edu	37	15	93528762	93528762	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:93528762C>A	ENST00000394196.4	+	26	4340	c.3272C>A	c.(3271-3273)tCt>tAt	p.S1091Y	CHD2_ENST00000557381.1_Missense_Mutation_p.S1091Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1091					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACACTGAGTCTAAGAGGCAG	0.507													ENSG00000173575																																					0													83.0	79.0	80.0					15																	93528762		2197	4298	6495	SO:0001583	missense	0			-	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3272C>A	15.37:g.93528762C>A	ENSP00000377747:p.Ser1091Tyr		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1091Y	ENST00000394196.4	37	c.3272	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255702	0.59321	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.80304	-1.36;-1.36	5.42	5.42	0.78866	.	0.263309	0.19849	U	0.104700	T	0.78419	0.4280	L	0.50333	1.59	0.80722	D	1	B;B	0.33612	0.41;0.419	B;B	0.37304	0.136;0.246	T	0.79315	-0.1854	10	0.66056	D	0.02	-12.7137	13.5067	0.61486	0.0:0.9253:0.0:0.0747	.	1091;1091	O14647;O14647-2	CHD2_HUMAN;.	Y	1091	ENSP00000377747:S1091Y;ENSP00000451366:S1091Y	ENSP00000377747:S1091Y	S	+	2	0	CHD2	91329766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.588000	0.60999	2.533000	0.85409	0.650000	0.86243	TCT	-	CHD2	-	NULL		0.507	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	0	0	0	57	57	58	0.00	0.00	C	NM_001271		93528762	+1	11	14	36	25	tier1	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	23.40	35.90	SNP	1.000	A	11	36
TTN	7273	genome.wustl.edu	37	2	179451983	179451983	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179451983C>T	ENST00000591111.1	-	257	59256	c.59032G>A	c.(59032-59034)Gaa>Aaa	p.E19678K	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12446K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21319K|TTN_ENST00000342992.6_Missense_Mutation_p.E18751K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12379K|TTN_ENST00000460472.2_Missense_Mutation_p.E12254K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19678	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)			TTCTTAACTTCTGGGGTAACG	0.498													ENSG00000155657																																					0													125.0	124.0	125.0					2																	179451983		1924	4133	6057	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.59032G>A	2.37:g.179451983C>T	ENSP00000465570:p.Glu19678Lys		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.E18751K	ENST00000591111.1	37	c.56251		2	.	.	.	.	.	.	.	.	.	.	C	32	5.108758	0.94292	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53254	0.1785	L	0.39566	1.225	0.58432	D	0.999999	P;P;P;P	0.43938	0.822;0.822;0.822;0.822	B;B;B;B	0.43536	0.423;0.423;0.423;0.423	T	0.55927	-0.8063	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12254;12379;12446;19678	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18751;12254;12446;12379;12252	ENSP00000343764:E18751K;ENSP00000434586:E12254K;ENSP00000340554:E12446K;ENSP00000352154:E12379K	ENSP00000340554:E12446K	E	-	1	0	TTN	179160229	1.000000	0.71417	0.981000	0.43875	0.925000	0.55904	7.770000	0.85390	2.835000	0.97688	0.650000	0.86243	GAA	-	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	47	47	160	0.00	0.00	C	NM_133378		179451983	-1	7	27	25	77	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	21.88	25.96	SNP	1.000	T	7	25
DHX35	60625	genome.wustl.edu	37	20	37650563	37650563	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:37650563C>T	ENST00000252011.3	+	16	1611	c.1578C>T	c.(1576-1578)aaC>aaT	p.N526N	DHX35_ENST00000373325.2_Silent_p.N526N|DHX35_ENST00000373323.4_Silent_p.N495N	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	526					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCCCCCAAACCAGAAGTCTC	0.463													ENSG00000101452																																					0													134.0	127.0	129.0					20																	37650563		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1578C>T	20.37:g.37650563C>T			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	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.N526	ENST00000252011.3	37	c.1578	CCDS13310.1	20																																																																																			-	DHX35	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom		0.463	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	0	0	0	82	82	110	0.00	0.00	C	NM_021931		37650563	+1	39	42	49	90	tier1	no_errors	ENST00000252011	ensembl	human	known	74_37	silent	44.32	31.82	SNP	1.000	T	39	49
PRKCB	5579	genome.wustl.edu	37	16	24226094	24226094	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:24226094C>T	ENST00000321728.7	+	17	2038				PRKCB_ENST00000303531.7_Missense_Mutation_p.S660F	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta						apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAAGGATTTTCCTTTGTTAAC	0.428													ENSG00000166501																																					0													94.0	95.0	95.0					16																	24226094		2197	4300	6497	SO:0001627	intron_variant	0			-	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1864-5188C>T	16.37:g.24226094C>T			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.S660F	ENST00000321728.7	37	c.1979	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335785	0.81801	.	.	ENSG00000166501	ENST00000303531	T	0.63744	-0.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.81693	-0.0817	9	0.87932	D	0	.	18.7291	0.91728	0.0:1.0:0.0:0.0	.	660	P05771-2	.	F	660	ENSP00000305355:S660F	ENSP00000305355:S660F	S	+	2	0	PRKCB	24133595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.768000	0.95171	0.655000	0.94253	TCC	-	PRKCB	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g		0.428	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	0	0	0	59	59	68	0.00	0.00	C	NM_212535		24226094	+1	16	38	26	47	tier1	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	38.10	44.71	SNP	1.000	T	16	26
UTP14C	9724	genome.wustl.edu	37	13	52603205	52603205	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:52603205C>T	ENST00000521776.2	+	2	998	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	89					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCTTGCAGATCTGCTTGAGCC	0.443													ENSG00000253797																																					0													149.0	154.0	152.0					13																	52603205		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.265C>T	13.37:g.52603205C>T			Q5FWG3|Q92555	Silent	SNP	pfam_SSU_processome_Utp14	p.L89	ENST00000521776.2	37	c.265	CCDS31978.1	13																																																																																			-	UTP14C	-	pfam_SSU_processome_Utp14		0.443	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	0	0	0	88	88	95	0.00	0.00	C	NM_021645		52603205	+1	18	16	48	73	tier1	no_errors	ENST00000521776	ensembl	human	known	74_37	silent	27.27	17.98	SNP	1.000	T	18	48
EXTL3	2137	genome.wustl.edu	37	8	28600611	28600611	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:28600611C>T	ENST00000220562.4	+	6	3332	c.2430C>T	c.(2428-2430)gcC>gcT	p.A810A	EXTL3_ENST00000523149.1_Silent_p.A426A|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	810					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGTATTATGCCTACCTGTATT	0.468													ENSG00000012232																																					0													207.0	184.0	192.0					8																	28600611		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2430C>T	8.37:g.28600611C>T			D3DST8|O00225|Q53XT3	Silent	SNP	pfam_Hexc_Trfase_a,pfam_Exostosin	p.A810	ENST00000220562.4	37	c.2430	CCDS6070.1	8																																																																																			-	EXTL3	-	pfam_Hexc_Trfase_a		0.468	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	0	0	0	92	92	81	0.00	0.00	C	NM_001440		28600611	+1	26	15	21	16	tier1	no_errors	ENST00000220562	ensembl	human	known	74_37	silent	55.32	48.39	SNP	1.000	T	26	21
TAF1L	138474	genome.wustl.edu	37	9	32632221	32632221	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:32632221C>T	ENST00000242310.4	-	1	3446	c.3357G>A	c.(3355-3357)atG>atA	p.M1119I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1119					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGTTCTTTCCCATTTCTTCAA	0.458													ENSG00000122728																																					0													202.0	165.0	177.0					9																	32632221		2203	4300	6503	SO:0001583	missense	0			-	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3357G>A	9.37:g.32632221C>T	ENSP00000418379:p.Met1119Ile		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.M1119I	ENST00000242310.4	37	c.3357	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417725	0.42918	.	.	ENSG00000122728	ENST00000242310	T	0.16897	2.31	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	L	0.58583	1.82	0.50632	D	0.999881	P	0.34892	0.474	B	0.32090	0.14	T	0.05699	-1.0869	10	0.59425	D	0.04	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1119	Q8IZX4	TAF1L_HUMAN	I	1119	ENSP00000418379:M1119I	ENSP00000418379:M1119I	M	-	3	0	TAF1L	32622221	1.000000	0.71417	0.805000	0.32314	0.573000	0.36030	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	ATG	-	TAF1L	-	pirsf_TAF1_animal		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	0	0	0	108	108	68	0.00	0.00	C			32632221	-1	24	15	69	39	tier1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	25.81	27.78	SNP	1.000	T	24	69
SRC	6714	genome.wustl.edu	37	20	36031953	36031953	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:36031953G>A	ENST00000373578.2	+	0	2131				SRC_ENST00000373558.2_3'UTR|SRC_ENST00000445403.1_3'UTR|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_3'UTR|SRC_ENST00000373567.2_3'UTR|SRC_ENST00000358208.4_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CTGGACCTAGGGTGGCCTGAG	0.652													ENSG00000197122																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.*171G>A	20.37:g.36031953G>A			E1P5V4|Q76P87|Q86VB9|Q9H5A8	R	SNP	-	NULL	ENST00000373578.2	37	NULL	CCDS13294.1	20																																																																																			-	SRC	-	-		0.652	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	0	0	0	13	13	65	0.00	0.00	G	NM_005417		36031953	+1	7	20	17	45	tier1	no_errors	ENST00000477066	ensembl	human	known	74_37	rna	29.17	30.77	SNP	0.001	A	7	17
AMY1C	278	genome.wustl.edu	37	1	104297431	104297431	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:104297431G>A	ENST00000370079.3	+	7	1160	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	366					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTTTGAAAATGGAAAAGTAAG	0.323													ENSG00000187733																																					0													34.0	34.0	34.0					1																	104297431		2051	4115	6166	SO:0001583	missense	0			-		CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.1096G>A	1.37:g.104297431G>A	ENSP00000359096:p.Gly366Arg		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.G366R	ENST00000370079.3	37	c.1096	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797710	0.31777	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	1.27	0.21489	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.64170	1.965	0.58432	D	0.999999	.	.	.	.	.	.	T	0.54410	-0.8298	7	0.87932	D	0	.	8.61	0.33797	0.1226:0.0:0.8774:0.0	.	.	.	.	R	366	.	ENSP00000359096:G366R	G	+	1	0	AMY1C	104098954	1.000000	0.71417	0.798000	0.32154	0.280000	0.26924	7.066000	0.76734	0.261000	0.21753	0.184000	0.17185	GGA	-	AMY1C	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom		0.323	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	0	0	0	171	171	35	0.00	0.00	G	NM_001008219		104297431	+1	25	4	154	26	tier1	no_errors	ENST00000370079	ensembl	human	known	74_37	missense	13.97	13.33	SNP	1.000	A	25	154
TP63	8626	genome.wustl.edu	37	3	189587175	189587175	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:189587175G>A	ENST00000264731.3	+	9	1281	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	TP63_ENST00000392460.3_Missense_Mutation_p.D398N|TP63_ENST00000440651.2_Missense_Mutation_p.D394N|TP63_ENST00000449992.1_Missense_Mutation_p.D219N|TP63_ENST00000320472.5_Missense_Mutation_p.D398N|TP63_ENST00000456148.1_Missense_Mutation_p.D300N|TP63_ENST00000382063.4_Missense_Mutation_p.D313N|TP63_ENST00000418709.2_Missense_Mutation_p.D398N|TP63_ENST00000392463.2_Missense_Mutation_p.D304N|TP63_ENST00000354600.5_Missense_Mutation_p.D304N|TP63_ENST00000437221.1_Missense_Mutation_p.D304N|TP63_ENST00000392461.3_Missense_Mutation_p.D304N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	398	Oligomerization.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATCCCCAGATGATGAACTGTT	0.418										HNSCC(45;0.13)			ENSG00000073282																																					0													156.0	131.0	139.0					3																	189587175		2203	4300	6503	SO:0001583	missense	0			-	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1192G>A	3.37:g.189587175G>A	ENSP00000264731:p.Asp398Asn		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_D-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.D398N	ENST00000264731.3	37	c.1192	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157676	0.78114	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	5.85	5.85	0.93711	p53, tetramerisation domain (3);	0.049215	0.85682	D	0.000000	D	0.92551	0.7634	L	0.49350	1.555	0.80722	D	1	P;P;P;P;P;P;P;P;P;P	0.50528	0.837;0.837;0.696;0.696;0.696;0.696;0.607;0.936;0.741;0.837	P;P;P;B;B;P;P;P;P;P	0.51415	0.535;0.535;0.535;0.363;0.363;0.535;0.497;0.669;0.665;0.535	D	0.91329	0.5088	9	.	.	.	-14.5846	17.3209	0.87235	0.0:0.0:1.0:0.0	.	219;398;394;304;304;304;304;398;398;398	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	N	398;398;398;398;394;313;304;304;304;304;219;300	ENSP00000264731:D398N;ENSP00000407144:D398N;ENSP00000317510:D398N;ENSP00000376253:D398N;ENSP00000394337:D394N;ENSP00000371495:D313N;ENSP00000346614:D304N;ENSP00000392488:D304N;ENSP00000376256:D304N;ENSP00000376254:D304N;ENSP00000387839:D219N;ENSP00000389485:D300N	.	D	+	1	0	TP63	191069869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.766000	0.95052	0.655000	0.94253	GAT	-	TP63	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn		0.418	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	0	0	0	142	142	136	0.00	0.00	G	NM_003722		189587175	+1	59	55	88	74	tier1	no_errors	ENST00000264731	ensembl	human	known	74_37	missense	40.14	42.64	SNP	1.000	A	59	88
DMXL2	23312	genome.wustl.edu	37	15	51773074	51773074	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:51773074G>A	ENST00000251076.5	-	24	6516	c.6229C>T	c.(6229-6231)Ctt>Ttt	p.L2077F	DMXL2_ENST00000449909.3_Missense_Mutation_p.L1441F|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2077F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2077						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCTTTTCAAGCCAGTTATAG	0.348													ENSG00000104093																																					0													104.0	103.0	103.0					15																	51773074		2196	4293	6489	SO:0001583	missense	0			-	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6229C>T	15.37:g.51773074G>A	ENSP00000251076:p.Leu2077Phe		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2077F	ENST00000251076.5	37	c.6229	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039843	0.75732	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77620	-1.11;-1.11;-1.11	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.97110	0.999;0.99;0.995;1.0	D	0.89729	0.3925	10	0.87932	D	0	.	13.0079	0.58717	0.0738:0.0:0.9262:0.0	.	2077;1441;2077;2077	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	F	2077;2077;1441	ENSP00000251076:L2077F;ENSP00000441858:L2077F;ENSP00000400855:L1441F	ENSP00000251076:L2077F	L	-	1	0	DMXL2	49560366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.622000	0.61240	2.669000	0.90835	0.655000	0.94253	CTT	-	DMXL2	-	NULL		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	0	0	0	46	46	83	0.00	0.00	G	NM_015263		51773074	-1	14	15	14	29	tier1	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	50.00	34.09	SNP	1.000	A	14	14
BAI2	576	genome.wustl.edu	37	1	32196593	32196593	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:32196593G>A	ENST00000373658.3	-	29	4529	c.4188C>T	c.(4186-4188)ccC>ccT	p.P1396P	BAI2_ENST00000440175.2_Silent_p.P1005P|BAI2_ENST00000373655.2_Silent_p.P1396P|BAI2_ENST00000398547.1_Silent_p.P1329P|BAI2_ENST00000527361.1_Silent_p.P1363P|BAI2_ENST00000398556.3_Silent_p.P1311P|BAI2_ENST00000257070.4_Silent_p.P1363P|BAI2_ENST00000398538.1_Silent_p.P1384P|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398542.1_Silent_p.P1296P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1396					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACAGGAAGCTGGGGTAGCCTT	0.687													ENSG00000121753																																					0													22.0	30.0	27.0					1																	32196593		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4188C>T	1.37:g.32196593G>A			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.P1396	ENST00000373658.3	37	c.4188	CCDS346.2	1																																																																																			-	BAI2	-	NULL		0.687	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	0	0	0	130	130	46	0.00	0.00	G	NM_001703		32196593	-1	93	21	59	29	tier1	no_errors	ENST00000373658	ensembl	human	known	74_37	silent	61.18	42.00	SNP	1.000	A	93	59
INO80D	54891	genome.wustl.edu	37	2	206870122	206870122	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:206870122A>T	ENST00000403263.1	-	11	2458	c.2054T>A	c.(2053-2055)tTg>tAg	p.L685*	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	685					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCTATCTGACAACTCCTGGAC	0.532													ENSG00000114933																																					0													117.0	108.0	111.0					2																	206870122		1967	4155	6122	SO:0001587	stop_gained	0			-		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2054T>A	2.37:g.206870122A>T	ENSP00000384198:p.Leu685*		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Nonsense_Mutation	SNP	NULL	p.L685*	ENST00000403263.1	37	c.2054	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	A	39	7.842738	0.98519	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	.	.	.	5.29	5.29	0.74685	.	0.103516	0.39687	N	0.001289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.395	0.74784	1.0:0.0:0.0:0.0	.	.	.	.	X	685	.	ENSP00000233270:L685X	L	-	2	0	INO80D	206578367	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	6.211000	0.72182	2.217000	0.71921	0.482000	0.46254	TTG	-	INO80D	-	NULL		0.532	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	0	0	1	78	78	127	0.00	0.78	A	NM_017759		206870122	-1	22	43	36	62	tier1	no_errors	ENST00000403263	ensembl	human	known	74_37	nonsense	37.93	40.95	SNP	1.000	T	22	36
CCDC144NL	339184	genome.wustl.edu	37	17	20796722	20796722	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:20796722G>A	ENST00000327925.5	-	2	517	c.398C>T	c.(397-399)cCt>cTt	p.P133L	RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	133										large_intestine(3)|lung(3)|skin(1)	7						GTTATTTTGAGGAAGACTTTC	0.303													ENSG00000205212																																					0													29.0	31.0	30.0					17																	20796722		2187	4255	6442	SO:0001583	missense	0			-		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.398C>T	17.37:g.20796722G>A	ENSP00000328054:p.Pro133Leu			Missense_Mutation	SNP	NULL	p.P133L	ENST00000327925.5	37	c.398	CCDS32591.1	17	.	.	.	.	.	.	.	.	.	.	g	11.02	1.516383	0.27123	.	.	ENSG00000205212	ENST00000327925	T	0.41400	1.0	0.9	0.9	0.19278	.	.	.	.	.	T	0.39963	0.1098	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.16482	-1.0401	9	0.72032	D	0.01	.	5.1714	0.15112	0.0:0.0:1.0:0.0	.	133	Q6NUI1	C144L_HUMAN	L	133	ENSP00000328054:P133L	ENSP00000328054:P133L	P	-	2	0	CCDC144NL	20737314	0.264000	0.24093	0.021000	0.16686	0.197000	0.23852	0.731000	0.26058	0.792000	0.33850	0.281000	0.19383	CCT	-	CCDC144NL	-	NULL		0.303	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC144NL	HGNC	protein_coding	OTTHUMT00000255361.2	0	0	0	234	234	81	0.00	0.00	G	NM_001004306		20796722	-1	111	43	86	38	tier1	no_errors	ENST00000327925	ensembl	human	known	74_37	missense	56.35	52.44	SNP	0.036	A	111	86
GPLD1	2822	genome.wustl.edu	37	6	24447086	24447086	+	Silent	SNP	C	C	T	rs371832777		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:24447086C>T	ENST00000230036.1	-	18	1910	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	600					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TCTTCCAGGTCGGGCTCCCAA	0.577													ENSG00000112293																																					0								C		0,4406		0,0,2203	83.0	72.0	75.0		1800	-10.8	0.1	6		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPLD1	NM_001503.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		600/841	24447086	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1800G>A	6.37:g.24447086C>T			Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.P600	ENST00000230036.1	37	c.1800	CCDS4553.1	6																																																																																			-	GPLD1	-	smart_Int_alpha_beta-p		0.577	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	0	0	0	60	60	88	0.00	0.00	C	NM_001503		24447086	-1	26	15	39	68	tier1	no_errors	ENST00000230036	ensembl	human	known	74_37	silent	40.00	18.07	SNP	0.011	T	26	39
KMT2B	9757	genome.wustl.edu	37	19	36219715	36219715	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36219715C>T	ENST00000222270.7	+	20	4612	c.4612C>T	c.(4612-4614)Cat>Tat	p.H1538Y	KMT2B_ENST00000420124.1_Missense_Mutation_p.H1538Y|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1538					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATCCCTGGATCATGTCTATGC	0.617													ENSG00000272333																																					0													54.0	59.0	57.0					19																	36219715		2063	4196	6259	SO:0001583	missense	0			-	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4612C>T	19.37:g.36219715C>T	ENSP00000222270:p.His1538Tyr		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.H1538Y	ENST00000222270.7	37	c.4612	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714987	0.48622	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.96365	-3.99;-3.99	4.91	4.91	0.64330	.	0.000000	0.43416	D	0.000571	D	0.97554	0.9199	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.98100	1.0414	10	0.66056	D	0.02	.	17.0241	0.86441	0.0:1.0:0.0:0.0	.	1538	Q9UMN6	MLL4_HUMAN	Y	1538	ENSP00000222270:H1538Y;ENSP00000398837:H1538Y	ENSP00000222270:H1538Y	H	+	1	0	AD000671.1	40911555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.312000	0.78968	2.552000	0.86080	0.655000	0.94253	CAT	-	KMT2B	-	pirsf_MeTrfase_trithorax		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		0	0	0	52	52	86	0.00	0.00	C	NM_014727		36219715	+1	16	30	24	42	tier1	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	40.00	40.54	SNP	1.000	T	16	24
KCNMB2	10242	genome.wustl.edu	37	3	178543388	178543388	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:178543388G>A	ENST00000432997.1	+	3	421	c.69G>A	c.(67-69)caG>caA	p.Q23Q	KCNMB2_ENST00000452583.1_Silent_p.Q23Q|KCNMB2_ENST00000358316.3_Silent_p.Q23Q|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.Q23Q|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	0					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	ATATTTACCAGAAAATCAGGG	0.453													ENSG00000197584																																					0													93.0	91.0	92.0					3																	178543388		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.69G>A	3.37:g.178543388G>A			B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.Q23	ENST00000432997.1	37	c.69	CCDS3223.1	3																																																																																			-	KCNMB2	-	pfam_KCNMB2_ball_chain_dom		0.453	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	HGNC	protein_coding	OTTHUMT00000348251.1	0	0	0	87	87	96	0.00	0.00	G	NM_181361		178543388	+1	43	25	58	56	tier1	no_errors	ENST00000358316	ensembl	human	known	74_37	silent	42.57	30.86	SNP	1.000	A	43	58
SLC12A5	57468	genome.wustl.edu	37	20	44664104	44664104	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44664104A>C	ENST00000454036.2	+	3	327	c.278A>C	c.(277-279)aAc>aCc	p.N93T	SLC12A5_ENST00000608944.1_Missense_Mutation_p.N19T|SLC12A5_ENST00000243964.3_Missense_Mutation_p.N70T|SLC12A5_ENST00000372315.1_Missense_Mutation_p.N70T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	93					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AACTACACCAACCTGCCCCAG	0.577													ENSG00000124140																																					0													93.0	99.0	97.0					20																	44664104		2203	4300	6503	SO:0001583	missense	0			-	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.278A>C	20.37:g.44664104A>C	ENSP00000387694:p.Asn93Thr		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N93T	ENST00000454036.2	37	c.278	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266945	0.80469	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.95447	-1.92;-3.23;-3.71;-1.9	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.96466	0.8847	M	0.80982	2.52	0.80722	D	1	D;D;P	0.56035	0.974;0.958;0.93	P;P;P	0.54346	0.566;0.749;0.566	D	0.95758	0.8798	10	0.37606	T	0.19	.	13.3322	0.60495	1.0:0.0:0.0:0.0	.	93;70;70	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	T	93;70;70;70	ENSP00000387694:N93T;ENSP00000361389:N70T;ENSP00000446091:N70T;ENSP00000243964:N70T	ENSP00000243964:N70T	N	+	2	0	SLC12A5	44097511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.695000	0.91298	2.019000	0.59389	0.460000	0.39030	AAC	-	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	0	0	0	54	54	67	0.00	0.00	A			44664104	+1	14	19	36	48	tier1	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	28.00	28.36	SNP	1.000	C	14	36
SDR42E1	93517	genome.wustl.edu	37	16	82032828	82032828	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:82032828C>T	ENST00000328945.5	-	3	1197	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	357					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TCCAGAACTTCTGCCATGACC	0.453													ENSG00000184860																																					0													117.0	114.0	115.0					16																	82032828		1931	4147	6078	SO:0001583	missense	0			-	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.1070G>A	16.37:g.82032828C>T	ENSP00000332407:p.Arg357Lys		B2RDS1|Q9P0D1	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like	p.R357K	ENST00000328945.5	37	c.1070	CCDS42205.1	16	.	.	.	.	.	.	.	.	.	.	C	8.969	0.972361	0.18736	.	.	ENSG00000184860	ENST00000328945	D	0.84298	-1.83	5.41	3.41	0.39046	.	0.257927	0.45126	D	0.000399	T	0.73489	0.3593	L	0.38692	1.165	0.19945	N	0.999949	B	0.06786	0.001	B	0.04013	0.001	T	0.55897	-0.8068	10	0.21540	T	0.41	-5.1254	4.8618	0.13588	0.0:0.5625:0.1684:0.2691	.	357	Q8WUS8	D42E1_HUMAN	K	357	ENSP00000332407:R357K	ENSP00000332407:R357K	R	-	2	0	SDR42E1	80590329	0.012000	0.17670	0.189000	0.23252	0.757000	0.42996	0.901000	0.28445	0.610000	0.30035	0.655000	0.94253	AGA	-	SDR42E1	-	NULL		0.453	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR42E1	HGNC	protein_coding	OTTHUMT00000388081.2	0	0	0	56	56	169	0.00	0.00	C	NM_145168		82032828	-1	24	55	39	88	tier1	no_errors	ENST00000328945	ensembl	human	known	74_37	missense	38.10	38.46	SNP	0.313	T	24	39
ATG4B	23192	genome.wustl.edu	37	2	242610849	242610849	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:242610849C>T	ENST00000404914.3	+	12	1211				ATG4B_ENST00000396411.3_Intron|ATG4B_ENST00000474739.2_Intron|ATG4B_ENST00000405546.3_Intron|ATG4B_ENST00000402096.1_Silent_p.S305S	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		AGGTGGGGTCCCTCGGAGGTA	0.607													ENSG00000168397																									Melanoma(78;458 1323 6342 12171 39523)												0													49.0	52.0	51.0					2																	242610849		2110	4208	6318	SO:0001627	intron_variant	0			-	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.1108+29C>T	2.37:g.242610849C>T			B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Silent	SNP	pfam_Peptidase_C54	p.S305	ENST00000404914.3	37	c.915	CCDS46564.1	2																																																																																			-	ATG4B	-	NULL		0.607	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4B	HGNC	protein_coding	OTTHUMT00000322967.3	0	0	0	137	137	103	0.00	0.00	C	NM_013325		242610849	+1	12	11	101	51	tier1	no_errors	ENST00000402096	ensembl	human	known	74_37	silent	10.62	17.74	SNP	0.000	T	12	101
FRY	10129	genome.wustl.edu	37	13	32798510	32798510	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:32798510G>A	ENST00000380250.3	+	37	5400	c.4904G>A	c.(4903-4905)gGg>gAg	p.G1635E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1635						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTCCCCGGGGGCCACTCCAC	0.552													ENSG00000073910																																					0													42.0	45.0	44.0					13																	32798510		1893	4121	6014	SO:0001583	missense	0			-	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4904G>A	13.37:g.32798510G>A	ENSP00000369600:p.Gly1635Glu		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1635E	ENST00000380250.3	37	c.4904	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176469	0.57692	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.22945	1.93	5.44	5.44	0.79542	.	0.057253	0.64402	D	0.000001	T	0.28995	0.0720	L	0.29908	0.895	0.80722	D	1	B	0.29671	0.254	P	0.44647	0.456	T	0.09164	-1.0687	10	0.16896	T	0.51	.	14.8137	0.70013	0.0:0.1438:0.8561:0.0	.	1635	Q5TBA9	FRY_HUMAN	E	1635;472	ENSP00000369600:G1635E	ENSP00000369600:G1635E	G	+	2	0	FRY	31696510	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.496000	0.81526	2.553000	0.86117	0.411000	0.27672	GGG	-	FRY	-	NULL		0.552	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	0	0	1	74	74	116	0.00	0.85	G	NM_023037		32798510	+1	22	25	38	56	tier1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	36.67	30.86	SNP	1.000	A	22	38
LMTK2	22853	genome.wustl.edu	37	7	97833498	97833498	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:97833498G>A	ENST00000297293.5	+	13	4776	c.4483G>A	c.(4483-4485)Gga>Aga	p.G1495R		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1495				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CGAGCAGGGCGGTGAGAGGCG	0.627													ENSG00000164715																																					0													44.0	48.0	47.0					7																	97833498		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4483+1G>A	7.37:g.97833498G>A			A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G1495R	ENST00000297293.5	37	c.4483	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675483	0.67928	.	.	ENSG00000164715	ENST00000297293	D	0.86366	-2.11	5.32	5.32	0.75619	.	0.055155	0.64402	D	0.000001	D	0.94019	0.8084	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93173	0.6568	10	0.38643	T	0.18	.	18.4131	0.90559	0.0:0.0:1.0:0.0	.	1495	Q8IWU2	LMTK2_HUMAN	R	1495	ENSP00000297293:G1495R	ENSP00000297293:G1495R	G	+	1	0	LMTK2	97671434	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	9.403000	0.97302	2.662000	0.90505	0.558000	0.71614	GGA	-	LMTK2	-	NULL		0.627	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	0	0	0	41	41	52	0.00	0.00	G	NM_014916	Missense_Mutation	97833498	+1	5	7	26	32	tier1	no_errors	ENST00000297293	ensembl	human	known	74_37	missense	16.13	17.95	SNP	1.000	A	5	26
TAS1R2	80834	genome.wustl.edu	37	1	19166798	19166798	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:19166798G>A	ENST00000375371.3	-	6	1836	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	605					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCAGCATCAGGAAGCACATGG	0.647													ENSG00000179002																																					0													62.0	64.0	63.0					1																	19166798		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1815C>T	1.37:g.19166798G>A			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.F605	ENST00000375371.3	37	c.1815	CCDS187.1	1																																																																																			-	TAS1R2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.647	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	0	0	0	27	27	96	0.00	0.00	G			19166798	-1	7	11	23	68	tier1	no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	23.33	13.92	SNP	1.000	A	7	23
PACRG	135138	genome.wustl.edu	37	6	163235240	163235240	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:163235240G>A	ENST00000337019.3	+	3	442	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Missense_Mutation_p.R73Q|PACRG_ENST00000366888.2_Missense_Mutation_p.R73Q	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	73					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)		p.R73Q(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ACAGCATTTCGAAAATTCTAT	0.468													ENSG00000112530																																					1	Substitution - Missense(1)	urinary_tract(1)											104.0	109.0	107.0					6																	163235240		2203	4300	6503	SO:0001583	missense	0			-	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.218G>A	6.37:g.163235240G>A	ENSP00000337946:p.Arg73Gln		E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.R73Q	ENST00000337019.3	37	c.218	CCDS5284.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.260726	0.95368	.	.	ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888	T	0.52057	0.68	5.66	5.66	0.87406	.	0.061993	0.64402	D	0.000004	T	0.67608	0.2911	M	0.81942	2.565	0.58432	D	0.999994	D;D	0.89917	0.998;1.0	P;D	0.80764	0.876;0.994	T	0.69709	-0.5072	10	0.59425	D	0.04	-9.399	19.7468	0.96255	0.0:0.0:1.0:0.0	.	73;73	Q96M98-2;Q96M98	.;PACRG_HUMAN	Q	73	ENSP00000337946:R73Q	ENSP00000337946:R73Q	R	+	2	0	PACRG	163155230	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	6.715000	0.74697	2.678000	0.91216	0.563000	0.77884	CGA	-	PACRG	-	pfam_Parkin_co-regulated_protein		0.468	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	0	0	0	168	168	171	0.00	0.00	G	NM_152410		163235240	+1	57	45	84	61	tier1	no_errors	ENST00000337019	ensembl	human	known	74_37	missense	39.86	42.45	SNP	1.000	A	57	84
SSC5D	284297	genome.wustl.edu	37	19	56029824	56029824	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:56029824C>T	ENST00000389623.6	+	14	4204	c.4181C>T	c.(4180-4182)tCc>tTc	p.S1394F		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1394	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						TCCAGCCCCTCCAGGTCCTCC	0.612													ENSG00000179954																																					0													115.0	129.0	124.0					19																	56029824		692	1591	2283	SO:0001583	missense	0			-		CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.4181C>T	19.37:g.56029824C>T	ENSP00000374274:p.Ser1394Phe		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.S1394F	ENST00000389623.6	37	c.4181	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	14.26	2.481785	0.44147	.	.	ENSG00000179954	ENST00000389623	T	0.40756	1.02	2.94	1.73	0.24493	.	.	.	.	.	T	0.27489	0.0675	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.23368	-1.0190	9	0.66056	D	0.02	.	5.4179	0.16384	0.0:0.7845:0.0:0.2155	.	1394	A1L4H1	SRCRL_HUMAN	F	1394	ENSP00000374274:S1394F	ENSP00000374274:S1394F	S	+	2	0	SSC5D	60721636	0.000000	0.05858	0.027000	0.17364	0.677000	0.39632	-0.195000	0.09546	0.252000	0.21531	0.282000	0.19409	TCC	-	SSC5D	-	NULL		0.612	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	0	0	0	74	74	84	0.00	0.00	C	XM_001718392		56029824	+1	23	16	51	62	tier1	no_errors	ENST00000389623	ensembl	human	known	74_37	missense	31.08	20.51	SNP	0.316	T	23	51
ALAS1	211	genome.wustl.edu	37	3	52237962	52237962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:52237962C>T	ENST00000394965.2	+	5	871	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	ALAS1_ENST00000310271.2_Nonsense_Mutation_p.Q171*|ALAS1_ENST00000469224.1_Nonsense_Mutation_p.Q171*|ALAS1_ENST00000484952.1_Nonsense_Mutation_p.Q171*	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	171					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	GAAGAACTTCCAGGACATCAT	0.438													ENSG00000023330																																					0													127.0	116.0	120.0					3																	52237962		2203	4300	6503	SO:0001587	stop_gained	0			-	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.511C>T	3.37:g.52237962C>T	ENSP00000378416:p.Gln171*			Nonsense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.Q171*	ENST00000394965.2	37	c.511	CCDS2847.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.978090	0.97979	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	.	.	.	5.9	4.97	0.65823	.	0.196934	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-29.7319	12.4163	0.55496	0.137:0.744:0.119:0.0	.	.	.	.	X	171	.	ENSP00000309259:Q171X	Q	+	1	0	ALAS1	52213002	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.459000	0.45023	2.788000	0.95919	0.655000	0.94253	CAG	-	ALAS1	-	NULL		0.438	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS1	HGNC	protein_coding	OTTHUMT00000350207.1	0	0	0	99	99	108	0.00	0.00	C			52237962	+1	36	48	76	94	tier1	no_errors	ENST00000310271	ensembl	human	known	74_37	nonsense	32.14	33.57	SNP	1.000	T	36	76
EEPD1	80820	genome.wustl.edu	37	7	36324296	36324296	+	Splice_Site	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:36324296G>T	ENST00000242108.4	+	5	1761	c.1043G>T	c.(1042-1044)gGa>gTa	p.G348V	EEPD1_ENST00000534978.1_Splice_Site_p.G348V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	348					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCGCTGCAGGGAGCTGGGTAT	0.647													ENSG00000122547																																					0																																										SO:0001630	splice_region_variant	0			-	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1042-1G>T	7.37:g.36324296G>T			Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_D-bd_motif,tigrfam_Competence_ComEA_HhH	p.G348V	ENST00000242108.4	37	c.1043	CCDS34619.1	7	.	.	.	.	.	.	.	.	.	.	G	9.417	1.081946	0.20309	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.96041	-3.89;-3.89	4.88	3.93	0.45458	Endonuclease/exonuclease/phosphatase (2);	0.363355	0.31051	N	0.008353	D	0.92133	0.7506	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	D	0.89168	0.3535	10	0.39692	T	0.17	-30.2658	12.9951	0.58642	0.0:0.1619:0.8381:0.0	.	348	Q7L9B9	EEPD1_HUMAN	V	348	ENSP00000242108:G348V;ENSP00000442692:G348V	ENSP00000242108:G348V	G	+	2	0	EEPD1	36290821	1.000000	0.71417	0.932000	0.37286	0.025000	0.11179	5.273000	0.65564	2.421000	0.82119	0.561000	0.74099	GGA	-	EEPD1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.647	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	0	0	0	74	74	44	0.00	0.00	G	NM_030636	Missense_Mutation	36324296	+1	47	15	46	18	tier1	no_errors	ENST00000242108	ensembl	human	known	74_37	missense	50.00	45.45	SNP	0.934	T	47	46
TNNT2	7139	genome.wustl.edu	37	1	201328204	201328204	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:201328204G>A	ENST00000509001.1	-	0	1287				TNNT2_ENST00000367320.2_3'UTR|TNNT2_ENST00000367318.5_3'UTR|TNNT2_ENST00000458432.2_3'UTR|TNNT2_ENST00000367317.4_3'UTR|TNNT2_ENST00000360372.4_3'UTR|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000421663.2_3'UTR|TNNT2_ENST00000367315.2_3'UTR|TNNT2_ENST00000236918.7_3'UTR|TNNT2_ENST00000367322.1_3'UTR	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)						ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AGGAGTGGTGGCTCCCACCTA	0.627													ENSG00000118194																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.*134C>T	1.37:g.201328204G>A			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	R	SNP	-	NULL	ENST00000509001.1	37	NULL	CCDS30969.1	1																																																																																			-	TNNT2	-	-		0.627	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	0	0	1	26	26	51	0.00	1.92	G	NM_000364		201328204	-1	8	12	11	16	tier1	no_errors	ENST00000460780	ensembl	human	known	74_37	rna	42.11	42.86	SNP	0.007	A	8	11
VWCE	220001	genome.wustl.edu	37	11	61026600	61026600	+	Silent	SNP	C	C	T	rs148487281		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:61026600C>T	ENST00000335613.5	-	20	2801	c.2415G>A	c.(2413-2415)acG>acA	p.T805T	VWCE_ENST00000535710.1_Silent_p.T270T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	805						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCATCAAGTTCGTTCTTAAAA	0.577													ENSG00000167992	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18624	0.0		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	53.0	54.0	54.0		2415	-9.4	0.0	11	dbSNP_134	54	0,8598		0,0,4299	no	coding-synonymous	VWCE	NM_152718.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		805/956	61026600	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			GMAF=0.0005	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2415G>A	11.37:g.61026600C>T			A5PKV0|Q7Z7L6|Q86WK8	Silent	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.T805	ENST00000335613.5	37	c.2415	CCDS8002.1	11																																																																																			rs148487281	VWCE	-	NULL		0.577	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	0	0	0	82	82	82	0.00	0.00	C	NM_152718		61026600	-1	52	33	45	27	tier1	no_errors	ENST00000335613	ensembl	human	known	74_37	silent	53.61	55.00	SNP	0.000	T	52	45
CCDC27	148870	genome.wustl.edu	37	1	3669289	3669289	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:3669289G>A	ENST00000294600.2	+	1	328	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	82										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCGGTGCCCAGAATGGAAACC	0.652													ENSG00000162592																																					0													58.0	57.0	57.0					1																	3669289		2203	4300	6503	SO:0001583	missense	0			-		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.244G>A	1.37:g.3669289G>A	ENSP00000294600:p.Glu82Lys		Q5TBV3|Q96M50	Missense_Mutation	SNP	superfamily_Prefoldin	p.E82K	ENST00000294600.2	37	c.244	CCDS50.1	1	.	.	.	.	.	.	.	.	.	.	G	9.674	1.147437	0.21288	.	.	ENSG00000162592	ENST00000294600	T	0.33654	1.4	3.85	1.9	0.25705	.	0.922000	0.09004	N	0.862593	T	0.37376	0.1001	L	0.32530	0.975	0.09310	N	1	D	0.54964	0.969	P	0.54431	0.752	T	0.20174	-1.0283	10	0.72032	D	0.01	-6.4123	4.9434	0.13976	0.1187:0.2195:0.6618:0.0	.	82	Q2M243	CCD27_HUMAN	K	82	ENSP00000294600:E82K	ENSP00000294600:E82K	E	+	1	0	CCDC27	3659149	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.050000	0.30404	0.573000	0.29400	0.650000	0.86243	GAA	-	CCDC27	-	NULL		0.652	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	0	0	0	58	58	51	0.00	0.00	G	NM_152492		3669289	+1	37	24	45	29	tier1	no_errors	ENST00000294600	ensembl	human	known	74_37	missense	44.58	45.28	SNP	0.000	A	37	45
PPP1R12B	4660	genome.wustl.edu	37	1	202544234	202544234	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:202544234C>T	ENST00000608999.1	+	24	3015				PPP1R12B_ENST00000367270.4_Silent_p.S215S|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Intron|PPP1R12B_ENST00000336894.4_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTCGGAGTCCATCGAGTCCT	0.547													ENSG00000077157																																					0													92.0	91.0	92.0					1																	202544234		2203	4300	6503	SO:0001627	intron_variant	0			-	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2863-5368C>T	1.37:g.202544234C>T			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	NULL	p.S215	ENST00000608999.1	37	c.645	CCDS1426.1	1																																																																																			-	PPP1R12B	-	NULL		0.547	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	0	0	0	31	31	98	0.00	0.00	C	NM_032105		202544234	+1	13	20	15	41	tier1	no_errors	ENST00000367270	ensembl	human	known	74_37	silent	46.43	32.79	SNP	0.999	T	13	15
PLCB1	23236	genome.wustl.edu	37	20	8722148	8722148	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:8722148G>A	ENST00000338037.6	+	23	2478	c.2451G>A	c.(2449-2451)gtG>gtA	p.V817V	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Silent_p.V817V|PLCB1_ENST00000378641.3_Silent_p.V817V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	817					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCCGATATGTGAACCTGATGG	0.368													ENSG00000182621																																					0													139.0	126.0	130.0					20																	8722148		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2451G>A	20.37:g.8722148G>A			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V817	ENST00000338037.6	37	c.2451	CCDS13102.1	20																																																																																			-	PLCB1	-	pirsf_PLC-beta		0.368	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	0	0	0	110	110	105	0.00	0.00	G			8722148	+1	30	48	84	102	tier1	no_errors	ENST00000338037	ensembl	human	known	74_37	silent	26.32	32.00	SNP	1.000	A	30	84
KCNH5	27133	genome.wustl.edu	37	14	63246479	63246479	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:63246479C>T	ENST00000322893.7	-	10	2254	c.1986G>A	c.(1984-1986)agG>agA	p.R662R	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.R604R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	662					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAGTGAGATTCCTTGAGAAGG	0.433													ENSG00000140015																																					0													119.0	120.0	120.0					14																	63246479		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1986G>A	14.37:g.63246479C>T			C9JP98	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.R662	ENST00000322893.7	37	c.1986	CCDS9756.1	14																																																																																			-	KCNH5	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG		0.433	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	0	0	0	82	82	138	0.00	0.00	C	NM_139318		63246479	-1	23	15	57	102	tier1	no_errors	ENST00000322893	ensembl	human	known	74_37	silent	28.75	12.82	SNP	1.000	T	23	57
FAM84A	151354	genome.wustl.edu	37	2	14789596	14789596	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:14789596C>T	ENST00000497769.1	+	0	711				AC011897.1_ENST00000581929.1_3'UTR			Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A											endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			AGAAGCAATTCCTCTGCCTAG	0.512													ENSG00000162981																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000497769.1:c.*708C>T	2.37:g.14789596C>T			A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	R	SNP	-	NULL	ENST00000497769.1	37	NULL		2																																																																																			-	FAM84A	-	-		0.512	FAM84A-003	KNOWN	basic	processed_transcript	FAM84A	HGNC	protein_coding	OTTHUMT00000323612.1	0	0	0	49	49	154	0.00	0.00	C	NM_145175		14789596	+1	20	52	19	72	tier1	no_errors	ENST00000497769	ensembl	human	known	74_37	rna	51.28	41.94	SNP	0.031	T	20	19
HSPA2	3306	genome.wustl.edu	37	14	65008993	65008993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:65008993C>T	ENST00000394709.1	+	2	1502	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	HSPA2_ENST00000247207.6_Nonsense_Mutation_p.Q476*|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	476					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGGGTCCCCCAAATCGAGGT	0.567													ENSG00000126803																									Pancreas(136;1211 1835 24894 31984 38227)												0													53.0	55.0	54.0					14																	65008993		2203	4300	6503	SO:0001587	stop_gained	0			-	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1426C>T	14.37:g.65008993C>T	ENSP00000378199:p.Gln476*		Q15508|Q53XM3|Q9UE78	Nonsense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.Q476*	ENST00000394709.1	37	c.1426	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.848801	0.97885	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	.	.	.	5.13	5.13	0.70059	.	0.000000	0.52532	U	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.3633	18.6485	0.91421	0.0:1.0:0.0:0.0	.	.	.	.	X	476;476;250	.	ENSP00000247207:Q476X	Q	+	1	0	HSPA2	64078746	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.815000	0.86186	2.399000	0.81585	0.558000	0.71614	CAA	-	HSPA2	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.567	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	0	0	0	75	75	136	0.00	0.00	C			65008993	+1	36	48	42	83	tier1	no_errors	ENST00000247207	ensembl	human	known	74_37	nonsense	46.15	36.36	SNP	1.000	T	36	42
SCEL	8796	genome.wustl.edu	37	13	78130762	78130762	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:78130762G>A	ENST00000349847.3	+	3	159	c.75G>A	c.(73-75)cgG>cgA	p.R25R	SCEL_ENST00000377246.3_Silent_p.R25R|SCEL_ENST00000535157.1_Silent_p.R25R	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	25					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAACCACACGGAAGCAGCAGG	0.438													ENSG00000136155																																					0													181.0	186.0	185.0					13																	78130762		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.75G>A	13.37:g.78130762G>A			B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.R25	ENST00000349847.3	37	c.75	CCDS9459.1	13																																																																																			-	SCEL	-	NULL		0.438	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	0	0	0	57	57	85	0.00	0.00	G	NM_144777		78130762	+1	10	19	19	32	tier1	no_errors	ENST00000349847	ensembl	human	known	74_37	silent	34.48	37.25	SNP	0.060	A	10	19
TRANK1	9881	genome.wustl.edu	37	3	36875281	36875281	+	Silent	SNP	G	G	A	rs374776278		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36875281G>A	ENST00000429976.2	-	21	5908	c.5661C>T	c.(5659-5661)ctC>ctT	p.L1887L	TRANK1_ENST00000428977.2_Silent_p.L1337L|TRANK1_ENST00000301807.6_Silent_p.L1337L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1887							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAGCTTTGAGAGGACAGCCA	0.468													ENSG00000168016																																					0													146.0	141.0	142.0					3																	36875281		1932	4139	6071	SO:0001819	synonymous_variant	0			-	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5661C>T	3.37:g.36875281G>A			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L1887	ENST00000429976.2	37	c.5661	CCDS46789.2	3																																																																																			-	TRANK1	-	NULL		0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		0	0	0	43	43	116	0.00	0.00	G	NM_014831		36875281	-1	11	50	24	39	tier1	no_errors	ENST00000429976	ensembl	human	known	74_37	silent	31.43	56.18	SNP	0.995	A	11	24
SNORD3D	780854	genome.wustl.edu	37	17	19015639	19015639	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:19015639C>T	ENST00000362793.1	-	0	432									small nucleolar RNA, C/D box 3D																		AGGCGAAAACCTTTCTCGCGA	0.547													ENSG00000262202																																					0																																												0			-			17p11.2	2013-09-05			ENSG00000199663				33192	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006882		Approved	U3-4					17.37:g.19015639C>T				R	SNP	-	NULL	ENST00000362793.1	37	NULL		17																																																																																			-	SNORD3D	-	-		0.547	SNORD3D-201	KNOWN	basic	snoRNA	SNORD3D	HGNC	lincRNA		0	0	0	114	114	179	0.00	0.00	C	NR_006882		19015639	-1	17	17	39	105	tier1	no_errors	ENST00000573866	ensembl	human	known	74_37	rna	30.36	13.93	SNP	0.005	T	17	39
SEZ6L	23544	genome.wustl.edu	37	22	26743809	26743809	+	Silent	SNP	C	C	T	rs141377957		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:26743809C>T	ENST00000248933.6	+	11	2432	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	SEZ6L_ENST00000404234.3_Silent_p.I779I|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000402979.1_Silent_p.I552I|SEZ6L_ENST00000403121.1_Silent_p.I552I|SEZ6L_ENST00000529632.2_Silent_p.I779I|SEZ6L_ENST00000343706.4_Silent_p.I779I|SEZ6L_ENST00000360929.3_Silent_p.I779I			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	779	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.I779I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCTATGACATCGTGGGGAGTG	0.557													ENSG00000100095	C|||	1	0.000199681	0.0	0.0	5008	,	,		16135	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	pancreas(1)						C	,,,,,	0,4406		0,0,2203	86.0	82.0	83.0		2337,2337,2337,2337,2337,2337	-0.9	1.0	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	779/1024,779/1014,779/1012,779/950,779/949,779/1025	26743809	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2337C>T	22.37:g.26743809C>T			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I779	ENST00000248933.6	37	c.2337	CCDS13833.1	22																																																																																			rs141377957	SEZ6L	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.557	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	0	0	0	170	170	109	0.00	0.00	C			26743809	+1	49	29	96	58	tier1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	33.79	33.33	SNP	0.995	T	49	96
ITPR1	3708	genome.wustl.edu	37	3	4792929	4792929	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:4792929C>T	ENST00000443694.2	+	42	5499				ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000302640.8_Intron|EGOT_ENST00000414938.1_lincRNA|ITPR1_ENST00000357086.4_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGGGTAACTCCTGTTACCTGA	0.428													ENSG00000235947																																					0																																										SO:0001627	intron_variant	0			-	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5500-15285C>T	3.37:g.4792929C>T			E7EPX7|E9PDE9|Q14660|Q99897	R	SNP	-	NULL	ENST00000443694.2	37	NULL	CCDS54551.1	3																																																																																			-	EGOT	-	-		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	EGOT	HGNC	protein_coding	OTTHUMT00000337982.3	0	0	0	26	26	83	0.00	0.00	C	NM_002222		4792929	-1	5	22	17	79	tier1	no_errors	ENST00000414938	ensembl	human	known	74_37	rna	22.73	21.78	SNP	0.000	T	5	17
FSIP2	401024	genome.wustl.edu	37	2	186678369	186678369	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186678369G>A	ENST00000424728.1	+	18	19925	c.19925G>A	c.(19924-19926)cGa>cAa	p.R6642Q	FSIP2_ENST00000343098.5_Missense_Mutation_p.R6731Q			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6642										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTATTGTTCGATTAGTAGCT	0.323													ENSG00000188738																																					0													54.0	53.0	53.0					2																	186678369		1817	4075	5892	SO:0001583	missense	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19925G>A	2.37:g.186678369G>A	ENSP00000401306:p.Arg6642Gln		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.R6731Q	ENST00000424728.1	37	c.20192		2	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422856	0.62733	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.63913	-0.07;-0.06	5.42	5.42	0.78866	.	0.129153	0.35838	N	0.002943	T	0.66479	0.2793	L	0.47190	1.495	0.31034	N	0.717062	.	.	.	.	.	.	T	0.70949	-0.4733	8	0.66056	D	0.02	.	14.5872	0.68335	0.0:0.0:1.0:0.0	.	.	.	.	Q	6731;6642	ENSP00000344403:R6731Q;ENSP00000401306:R6642Q	ENSP00000344403:R6731Q	R	+	2	0	FSIP2	186386614	0.284000	0.24287	0.855000	0.33649	0.010000	0.07245	3.570000	0.53834	2.820000	0.97059	0.650000	0.86243	CGA	-	FSIP2	-	NULL		0.323	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0	0	133	133	117	0.00	0.00	G	NM_173651		186678369	+1	17	26	84	67	tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	16.83	27.96	SNP	0.931	A	17	84
DNAH7	56171	genome.wustl.edu	37	2	196746610	196746610	+	Missense_Mutation	SNP	C	C	T	rs200790432		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:196746610C>T	ENST00000312428.6	-	36	5970	c.5870G>A	c.(5869-5871)cGa>cAa	p.R1957Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1957	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCAGAGTATCGAATTGTGTC	0.378													ENSG00000118997																																					0													177.0	161.0	166.0					2																	196746610		1849	4090	5939	SO:0001583	missense	0			-	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5870G>A	2.37:g.196746610C>T	ENSP00000311273:p.Arg1957Gln		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1957Q	ENST00000312428.6	37	c.5870	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956660	0.73902	.	.	ENSG00000118997	ENST00000312428	T	0.50001	0.76	5.04	4.13	0.48395	.	0.066913	0.64402	N	0.000017	T	0.59878	0.2226	M	0.88450	2.955	0.80722	D	1	P	0.39282	0.666	P	0.44696	0.458	T	0.65429	-0.6170	10	0.54805	T	0.06	.	11.2246	0.48875	0.0:0.9046:0.0:0.0954	.	1957	Q8WXX0	DYH7_HUMAN	Q	1957	ENSP00000311273:R1957Q	ENSP00000311273:R1957Q	R	-	2	0	DNAH7	196454855	1.000000	0.71417	0.828000	0.32881	0.926000	0.56050	4.412000	0.59787	1.262000	0.44165	0.585000	0.79938	CGA	rs200790432	DH7	-	superfamily_P-loop_NTPase		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH7	HGNC	protein_coding	OTTHUMT00000335202.3	0	0	0	101	101	84	0.00	0.00	C	NM_018897		196746610	-1	17	20	60	64	tier1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	22.08	23.81	SNP	1.000	T	17	60
SCNN1B	6338	genome.wustl.edu	37	16	23382662	23382662	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23382662C>T	ENST00000343070.2	+	6	1099	c.923C>T	c.(922-924)cCc>cTc	p.P308L	SCNN1B_ENST00000568085.1_Missense_Mutation_p.P308L|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P353L|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P281L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	308					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GACTACGTCCCCTTCCTTGCG	0.597													ENSG00000168447																																					0													98.0	71.0	80.0					16																	23382662		2197	4300	6497	SO:0001583	missense	0			-	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.923C>T	16.37:g.23382662C>T	ENSP00000345751:p.Pro308Leu		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.P353L	ENST00000343070.2	37	c.1058	CCDS10609.1	16	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859296	0.71834	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.63744	-0.06;-0.06	5.01	3.97	0.46021	.	0.079070	0.53938	D	0.000053	T	0.81384	0.4811	M	0.90019	3.08	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	D	0.86084	0.1546	10	0.87932	D	0	-18.2147	15.2235	0.73333	0.1501:0.8498:0.0:0.0	.	308	P51168	SCNNB_HUMAN	L	308;353	ENSP00000345751:P308L;ENSP00000302874:P353L	ENSP00000302874:P353L	P	+	2	0	SCNN1B	23290163	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	3.137000	0.50562	2.327000	0.79052	0.655000	0.94253	CCC	-	SCNN1B	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC		0.597	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1B	HGNC	protein_coding	OTTHUMT00000254495.2	0	0	0	60	60	60	0.00	0.00	C			23382662	+1	19	20	36	51	tier1	no_errors	ENST00000307331	ensembl	human	known	74_37	missense	34.55	28.17	SNP	1.000	T	19	36
MYO1B	4430	genome.wustl.edu	37	2	192279346	192279346	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:192279346T>C	ENST00000392318.3	+	29	3357	c.3110T>C	c.(3109-3111)gTa>gCa	p.V1037A	MYO1B_ENST00000392316.1_Missense_Mutation_p.V1008A|MYO1B_ENST00000439065.2_Missense_Mutation_p.V282A|MYO1B_ENST00000339514.4_Missense_Mutation_p.V979A|MYO1B_ENST00000304164.4_Missense_Mutation_p.V1037A	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1037	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTGACCAAGGTATCAATGAGC	0.413													ENSG00000128641																																					0													80.0	74.0	76.0					2																	192279346		2203	4300	6503	SO:0001583	missense	0			-	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3110T>C	2.37:g.192279346T>C	ENSP00000376132:p.Val1037Ala		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1037A	ENST00000392318.3	37	c.3110	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889714	0.72524	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.16	5.16	0.70880	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.45352	1.415	0.58432	D	0.999998	D;D;P	0.76494	0.999;0.998;0.481	D;D;B	0.80764	0.994;0.976;0.287	T	0.58918	-0.7551	10	0.87932	D	0	.	13.9994	0.64424	0.0:0.0:0.0:1.0	.	282;1037;979	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	A	979;1037;1037;1008;282	ENSP00000341903:V979A;ENSP00000376132:V1037A;ENSP00000306382:V1037A;ENSP00000376130:V1008A;ENSP00000391442:V282A	ENSP00000306382:V1037A	V	+	2	0	MYO1B	191987591	1.000000	0.71417	0.926000	0.36857	0.667000	0.39255	7.129000	0.77225	2.296000	0.77279	0.482000	0.46254	GTA	-	MYO1B	-	pfam_Myosin_tail_2		0.413	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	0	0	1	74	74	103	0.00	0.96	T	NM_012223		192279346	+1	12	20	53	68	tier1	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	18.46	22.73	SNP	0.997	C	12	53
CAPN8	388743	genome.wustl.edu	37	1	223813569	223813569	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:223813569C>T	ENST00000366873.2	-	6	827	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	CAPN8_ENST00000366872.5_Missense_Mutation_p.E251K			A6NHC0	CAN8_HUMAN	calpain 8	251	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						GTGATGGCTTCGGCTTCGGCT	0.542													ENSG00000203697																																					0													90.0	78.0	82.0					1																	223813569		692	1591	2283	SO:0001583	missense	0			-		CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366873.2:c.751G>A	1.37:g.223813569C>T	ENSP00000355838:p.Glu251Lys		B2RXL2	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E251K	ENST00000366873.2	37	c.751		1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048578	0.75846	.	.	ENSG00000203697	ENST00000366872;ENST00000419193;ENST00000366873	D;D;D	0.91894	-2.93;-2.93;-2.93	5.41	4.44	0.53790	Peptidase C2, calpain, catalytic domain (3);	0.060662	0.64402	D	0.000008	D	0.95576	0.8562	H	0.98133	4.155	0.58432	D	0.999999	D	0.56746	0.977	B	0.43867	0.434	D	0.97569	1.0103	10	0.87932	D	0	.	17.4226	0.87518	0.0:0.8649:0.135:0.0	.	251	A6NHC0	CAN8_HUMAN	K	251	ENSP00000355837:E251K;ENSP00000401665:E251K;ENSP00000355838:E251K	ENSP00000355837:E251K	E	-	1	0	CAPN8	221880192	1.000000	0.71417	0.827000	0.32855	0.896000	0.52359	6.055000	0.71103	2.523000	0.85059	0.655000	0.94253	GAA	-	CAPN8	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.542	CAPN8-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CAPN8	HGNC	protein_coding	OTTHUMT00000171394.3	0	0	0	43	43	92	0.00	0.00	C	NM_001143962		223813569	-1	10	9	31	37	tier1	no_errors	ENST00000366872	ensembl	human	known	74_37	missense	24.39	19.57	SNP	0.991	T	10	31
POLR1B	84172	genome.wustl.edu	37	2	113333219	113333219	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:113333219C>T	ENST00000263331.5	+	15	3901	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	POLR1B_ENST00000409894.3_Silent_p.I924I|POLR1B_ENST00000417433.2_Silent_p.I1051I|POLR1B_ENST00000541869.1_Silent_p.I1145I|POLR1B_ENST00000537335.1_Silent_p.I896I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1107					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTGACACTATCGATACTGTTT	0.438													ENSG00000125630																									Ovarian(16;256 576 9537 23969 41147)												0													133.0	118.0	123.0					2																	113333219		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3321C>T	2.37:g.113333219C>T			B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	pfam_D-dir_R_pol_su2_6,pfam_R_pol_bsu_protrusion,pfam_R_pol_Rpb2_3,pfam_R_pol_Rpb2_7,pfam_R_pol_Rpa2-specific,pfam_R_pol_Rpb2_2,pfam_R_pol_Rpb2_5	p.I1145	ENST00000263331.5	37	c.3435	CCDS2097.1	2																																																																																			-	POLR1B	-	pfam_R_pol_Rpb2_7		0.438	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	0	0	0	89	89	96	0.00	0.00	C	NM_019014		113333219	+1	27	19	26	50	tier1	no_errors	ENST00000541869	ensembl	human	known	74_37	silent	50.94	27.54	SNP	0.282	T	27	26
TEX30	93081	genome.wustl.edu	37	13	103421774	103421774	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:103421774G>A	ENST00000376032.4	-	3	322	c.133C>T	c.(133-135)Cct>Tct	p.P45S	TEX30_ENST00000376022.1_Missense_Mutation_p.P4S|TEX30_ENST00000376029.3_Missense_Mutation_p.P45S|TEX30_ENST00000376021.4_Missense_Mutation_p.P4S|TEX30_ENST00000376019.1_Missense_Mutation_p.P4S|TEX30_ENST00000376027.1_Missense_Mutation_p.P45S|TEX30_ENST00000487260.1_5'UTR	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	45										lung(1)|urinary_tract(1)	2						ATCAAATGAGGAAGATTCATA	0.363													ENSG00000151287																																					0													80.0	75.0	77.0					13																	103421774		2203	4300	6503	SO:0001583	missense	0			-	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.133C>T	13.37:g.103421774G>A	ENSP00000365200:p.Pro45Ser		Q5JUR8|Q96KZ8	Missense_Mutation	SNP	pfam_Dienelactn_hydro	p.P45S	ENST00000376032.4	37	c.133	CCDS9503.2	13	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522133	0.44866	.	.	ENSG00000151287	ENST00000376027;ENST00000376019;ENST00000376022;ENST00000376021;ENST00000376032;ENST00000376029	.	.	.	5.68	5.68	0.88126	.	0.114981	0.64402	D	0.000009	T	0.57740	0.2074	L	0.58428	1.81	0.48087	D	0.999585	B	0.27013	0.166	B	0.22152	0.038	T	0.53450	-0.8437	9	0.33141	T	0.24	-0.334	14.3444	0.66649	0.0709:0.0:0.9291:0.0	.	45	Q5JUR7	CM027_HUMAN	S	45;4;4;4;45;45	.	ENSP00000365187:P4S	P	-	1	0	C13orf27	102219775	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.914000	0.48797	2.838000	0.97847	0.563000	0.77884	CCT	-	TEX30	-	NULL		0.363	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX30	HGNC	protein_coding	OTTHUMT00000045691.4	0	0	0	93	93	118	0.00	0.00	G	NM_138779		103421774	-1	34	20	51	32	tier1	no_errors	ENST00000376032	ensembl	human	known	74_37	missense	40.00	37.74	SNP	1.000	A	34	51
MYLK3	91807	genome.wustl.edu	37	16	46781686	46781686	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:46781686G>A	ENST00000394809.4	-	1	535	c.420C>T	c.(418-420)ttC>ttT	p.F140F	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	140					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTGCATGAGGAAATCCGCCA	0.657													ENSG00000140795																																					0													60.0	59.0	60.0					16																	46781686		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.420C>T	16.37:g.46781686G>A			B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F140	ENST00000394809.4	37	c.420	CCDS10723.2	16																																																																																			-	MYLK3	-	NULL		0.657	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	0	0	0	78	78	90	0.00	0.00	G	NM_182493		46781686	-1	29	11	56	42	tier1	no_errors	ENST00000394809	ensembl	human	known	74_37	silent	33.72	20.75	SNP	0.998	A	29	56
SP140	11262	genome.wustl.edu	37	2	231103630	231103630	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:231103630G>A	ENST00000392045.3	+	3	520				SP140_ENST00000343805.6_Intron|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Intron|SP140_ENST00000373645.3_3'UTR|SP140_ENST00000417495.3_Intron|SP140_ENST00000350136.5_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein						defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGGCCTTTCCGAACCATGTGG	0.522													ENSG00000079263																																					0													15.0	15.0	15.0					2																	231103630		2032	3975	6007	SO:0001627	intron_variant	0			-	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.406+534G>A	2.37:g.231103630G>A			E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	R	SNP	-	NULL	ENST00000392045.3	37	NULL	CCDS42831.1	2																																																																																			-	SP140	-	-		0.522	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	0	0	0	39	39	103	0.00	0.00	G	NM_007237		231103630	+1	13	22	40	40	tier1	no_errors	ENST00000538494	ensembl	human	known	74_37	rna	24.53	35.48	SNP	0.001	A	13	40
CLEC16A	23274	genome.wustl.edu	37	16	11217640	11217640	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:11217640G>A	ENST00000409790.1	+	21	2540	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Silent_p.L752L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCGTGCCCTGAACATCACCA	0.587													ENSG00000038532																																					1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											80.0	89.0	86.0					16																	11217640		2150	4248	6398	SO:0001819	synonymous_variant	0			-	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2310G>A	16.37:g.11217640G>A				Silent	SNP	pfam_Uncharacterised_FPL	p.L770	ENST00000409790.1	37	c.2310	CCDS45409.1	16																																																																																			-	CLEC16A	-	NULL		0.587	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	0	0	0	21	21	86	0.00	0.00	G	NM_015226		11217640	+1	8	20	13	57	tier1	no_errors	ENST00000409790	ensembl	human	known	74_37	silent	38.10	25.97	SNP	1.000	A	8	13
ZCCHC2	54877	genome.wustl.edu	37	18	60241712	60241712	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:60241712C>T	ENST00000269499.5	+	13	2816	c.2398C>T	c.(2398-2400)Ctt>Ttt	p.L800F	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.L479F	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	800						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATCAACCTTCCTTCCACACAG	0.488													ENSG00000141664																																					0													107.0	106.0	107.0					18																	60241712		2029	4194	6223	SO:0001583	missense	0			-	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2398C>T	18.37:g.60241712C>T	ENSP00000269499:p.Leu800Phe		B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.L800F	ENST00000269499.5	37	c.2398	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034239	0.75617	.	.	ENSG00000141664	ENST00000269499	T	0.47869	0.83	5.81	5.81	0.92471	.	0.085234	0.49916	D	0.000127	T	0.61211	0.2329	L	0.32530	0.975	0.53688	D	0.999975	D	0.76494	0.999	D	0.85130	0.997	T	0.58216	-0.7675	10	0.44086	T	0.13	-15.9495	20.0784	0.97758	0.0:1.0:0.0:0.0	.	800	Q9C0B9	ZCHC2_HUMAN	F	800	ENSP00000269499:L800F	ENSP00000269499:L800F	L	+	1	0	ZCCHC2	58392692	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.072000	0.57563	2.736000	0.93811	0.655000	0.94253	CTT	-	ZCCHC2	-	NULL		0.488	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	0	0	0	49	49	162	0.00	0.00	C	NM_017742		60241712	+1	27	84	20	33	tier1	no_errors	ENST00000269499	ensembl	human	known	74_37	missense	57.45	71.79	SNP	1.000	T	27	20
TMCO5B	100652857	genome.wustl.edu	37	15	33528899	33528899	+	RNA	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:33528899A>G	ENST00000529696.1	-	0	421							A8MYB1	TMC5B_HUMAN	transmembrane and coiled-coil domains 5B, pseudogene							integral component of membrane (GO:0016021)											agaatagcagagaccctggag	0.468													ENSG00000215296																																					0																																												0			-			15q13.3	2013-09-26	2010-09-29		ENSG00000215296	ENSG00000215296			34243	pseudogene	pseudogene			"""transmembrane and coiled-coil domains 5B"""				Standard	NR_046005		Approved		uc031qri.1	A8MYB1	OTTHUMG00000167569		15.37:g.33528899A>G				R	SNP	-	NULL	ENST00000529696.1	37	NULL		15																																																																																			-	TMCO5B	-	-		0.468	TMCO5B-001	KNOWN	basic	processed_transcript	TMCO5B	HGNC	pseudogene	OTTHUMT00000395082.1	0	0	0	61	61	141	0.00	0.00	A			33528899	-1	19	37	16	32	tier1	no_errors	ENST00000529696	ensembl	human	known	74_37	rna	52.78	53.62	SNP	0.004	G	19	16
ITGAD	3681	genome.wustl.edu	37	16	31434740	31434740	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:31434740G>A	ENST00000389202.2	+	25	2976	c.2927G>A	c.(2926-2928)gGg>gAg	p.G976E		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	976					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGCTGAACGGGGTGGCTGTG	0.537													ENSG00000156886																																					0													195.0	168.0	177.0					16																	31434740		2197	4300	6497	SO:0001583	missense	0			-	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2927G>A	16.37:g.31434740G>A	ENSP00000373854:p.Gly976Glu		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G976E	ENST00000389202.2	37	c.2927	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281291	0.01398	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.55930	0.49	5.39	3.41	0.39046	Integrin alpha-2 (1);	.	.	.	.	T	0.37517	0.1006	L	0.38175	1.15	0.09310	N	1	B;B	0.28026	0.198;0.198	B;B	0.28011	0.085;0.085	T	0.22556	-1.0213	9	0.08599	T	0.76	.	8.5729	0.33581	0.1826:0.0:0.8174:0.0	.	992;976	Q59H14;Q13349	.;ITAD_HUMAN	E	992;976	ENSP00000373854:G976E	ENSP00000373854:G976E	G	+	2	0	ITGAD	31342241	0.012000	0.17670	0.001000	0.08648	0.004000	0.04260	1.907000	0.39897	1.260000	0.44134	0.650000	0.86243	GGG	-	ITGAD	-	pfam_Integrin_alpha-2		0.537	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	0	0	1	61	61	98	0.00	1.01	G	NM_005353		31434740	+1	24	43	36	39	tier1	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	40.00	52.44	SNP	0.001	A	24	36
XPO4	64328	genome.wustl.edu	37	13	21373400	21373400	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:21373400G>A	ENST00000255305.6	-	16	2297	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F	XPO4_ENST00000400602.2_Silent_p.F742F			Q9C0E2	XPO4_HUMAN	exportin 4	742					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GACTTGACAAGAAATTAAGAG	0.418													ENSG00000132953																																					0													205.0	200.0	201.0					13																	21373400		1867	4104	5971	SO:0001819	synonymous_variant	0			-	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2226C>T	13.37:g.21373400G>A			Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	superfamily_ARM-type_fold	p.F742	ENST00000255305.6	37	c.2226	CCDS41872.1	13																																																																																			-	XPO4	-	superfamily_ARM-type_fold		0.418	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	0	0	0	68	68	135	0.00	0.00	G	NM_022459		21373400	-1	19	44	37	59	tier1	no_errors	ENST00000255305	ensembl	human	known	74_37	silent	33.93	42.72	SNP	1.000	A	19	37
ASPH	444	genome.wustl.edu	37	8	62559369	62559369	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:62559369G>A	ENST00000379454.4	-	6	746	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	ASPH_ENST00000522835.1_Intron|ASPH_ENST00000541428.1_Missense_Mutation_p.L158F|ASPH_ENST00000517847.2_Missense_Mutation_p.L173F|ASPH_ENST00000356457.5_Missense_Mutation_p.L187F|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517903.1_Missense_Mutation_p.L173F|ASPH_ENST00000522919.1_5'Flank|ASPH_ENST00000445642.3_Missense_Mutation_p.L173F	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	187	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTCGCCATAAGAAACTCATCA	0.388													ENSG00000198363																																					0													387.0	389.0	388.0					8																	62559369		2203	4300	6503	SO:0001583	missense	0			-	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.559C>T	8.37:g.62559369G>A	ENSP00000368767:p.Leu187Phe		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L187F	ENST00000379454.4	37	c.559	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829469	0.32329	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000517903;ENST00000445642;ENST00000517847	T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.48	1.48	0.22813	Aspartyl beta-hydroxylase/Triadin domain (1);	0.945325	0.08945	N	0.870918	T	0.40909	0.1136	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B;B;B	0.32731	0.077;0.382;0.328;0.016;0.113;0.023;0.328;0.009	B;B;B;B;B;B;B;B	0.40038	0.018;0.317;0.115;0.009;0.021;0.016;0.115;0.022	T	0.36480	-0.9746	10	0.15499	T	0.54	-1.3775	4.0294	0.09701	0.1819:0.0:0.4938:0.3242	.	187;173;173;158;187;187;173;187	B8Y0L3;B7ZM95;B7ZM96;F5H667;F8W7A9;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;ASPH_HUMAN	F	187;158;187;187;202;173;173;173	ENSP00000437864:L158F;ENSP00000368767:L187F;ENSP00000348841:L187F;ENSP00000427823:L202F;ENSP00000430245:L173F;ENSP00000394013:L173F;ENSP00000429954:L173F	ENSP00000348841:L187F	L	-	1	0	ASPH	62721923	0.374000	0.25081	0.003000	0.11579	0.000000	0.00434	0.974000	0.29436	0.054000	0.16065	-0.181000	0.13052	CTT	-	ASPH	-	pfam_Asp-B-hydro/Triadin_dom		0.388	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	0	0	0	86	86	91	0.00	0.00	G	NM_004318		62559369	-1	31	25	73	59	tier1	no_errors	ENST00000379454	ensembl	human	known	74_37	missense	29.81	29.76	SNP	0.002	A	31	73
LRP1B	53353	genome.wustl.edu	37	2	140992434	140992434	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:140992434C>T	ENST00000389484.3	-	90	14551	c.13580G>A	c.(13579-13581)gGa>gAa	p.G4527E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4527					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)		agcactgggtcctccccctat	0.393										TSP Lung(27;0.18)			ENSG00000168702																									Colon(99;50 2074 2507 20106)												0													106.0	105.0	105.0					2																	140992434		2203	4300	6503	SO:0001583	missense	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.13580G>A	2.37:g.140992434C>T	ENSP00000374135:p.Gly4527Glu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	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.G4527E	ENST00000389484.3	37	c.13580	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160150	0.57368	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89485	-2.52	5.24	4.35	0.52113	.	0.365937	0.25109	N	0.033078	D	0.87537	0.6202	L	0.44542	1.39	0.30444	N	0.775917	D	0.58268	0.982	P	0.49637	0.617	D	0.86065	0.1534	10	0.66056	D	0.02	.	11.3165	0.49394	0.1815:0.8185:0.0:0.0	.	4527	Q9NZR2	LRP1B_HUMAN	E	4527;4465	ENSP00000374135:G4527E	ENSP00000374135:G4527E	G	-	2	0	LRP1B	140708904	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.167000	0.42415	1.542000	0.49330	0.650000	0.86243	GGA	-	LRP1B	-	NULL		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	0	0	0	127	127	140	0.00	0.00	C	NM_018557		140992434	-1	36	45	72	68	tier1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	33.33	39.82	SNP	1.000	T	36	72
HTR4	3360	genome.wustl.edu	37	5	147889037	147889037	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:147889037C>T	ENST00000377888.3	-	6	1196	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	HTR4_ENST00000517929.1_Missense_Mutation_p.G353E|HTR4_ENST00000360693.3_Missense_Mutation_p.G353E|HTR4_ENST00000362016.2_Missense_Mutation_p.G367E|HTR4_ENST00000521735.1_Missense_Mutation_p.G353E|HTR4_ENST00000520514.1_Missense_Mutation_p.G353E|HTR4_ENST00000521530.1_Missense_Mutation_p.G353E|HTR4_ENST00000354217.2_Missense_Mutation_p.G353E|HTR4_ENST00000314512.6_Missense_Mutation_p.G353E	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	353					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	ATGTGTGGATCCATTAATGGT	0.448													ENSG00000164270																									GBM(120;370 1604 14007 17804 41573)												0													95.0	82.0	86.0					5																	147889037		2203	4300	6503	SO:0001583	missense	0			-	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1058G>A	5.37:g.147889037C>T	ENSP00000367120:p.Gly353Glu		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.G353E	ENST00000377888.3	37	c.1058	CCDS4291.1	5	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469039	0.63625	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.71103	-0.5;-0.5;-0.54;-0.54;-0.53;-0.5;-0.52;-0.47;-0.39	5.79	5.79	0.91817	.	0.135896	0.64402	D	0.000002	D	0.83175	0.5197	M	0.66939	2.045	0.58432	D	0.999996	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.997;0.999;0.995	D;D;D;D;D;D;P	0.74348	0.937;0.935;0.962;0.983;0.951;0.971;0.894	T	0.82884	-0.0236	10	0.52906	T	0.07	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	353;353;353;367;353;353;353	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	E	353;353;353;353;353;353;353;353;367	ENSP00000428320:G353E;ENSP00000346156:G353E;ENSP00000314906:G353E;ENSP00000430979:G353E;ENSP00000435904:G353E;ENSP00000427913:G353E;ENSP00000367120:G353E;ENSP00000353915:G353E;ENSP00000355037:G367E	ENSP00000314906:G353E	G	-	2	0	HTR4	147869230	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.818000	0.86416	2.740000	0.93945	0.563000	0.77884	GGA	-	HTR4	-	prints_5HT4_rcpt		0.448	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2	0	0	0	66	66	163	0.00	0.00	C	NM_000870		147889037	-1	13	48	23	42	tier1	no_errors	ENST00000360693	ensembl	human	known	74_37	missense	36.11	53.33	SNP	1.000	T	13	23
C10orf120	399814	genome.wustl.edu	37	10	124457412	124457412	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:124457412C>T	ENST00000329446.4	-	3	876	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	282										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GAAAAGATTTCGGTTTGTTAG	0.413													ENSG00000183559																																					0													165.0	161.0	162.0					10																	124457412		2203	4300	6503	SO:0001583	missense	0			-		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.845G>A	10.37:g.124457412C>T	ENSP00000331012:p.Arg282Gln		B2RU17	Missense_Mutation	SNP	NULL	p.R282Q	ENST00000329446.4	37	c.845	CCDS31302.1	10	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385770	0.61956	.	.	ENSG00000183559	ENST00000329446	T	0.52983	0.64	4.78	3.88	0.44766	.	0.000000	0.43260	D	0.000598	T	0.50017	0.1591	M	0.64997	1.995	0.09310	N	1	D	0.65815	0.995	P	0.49276	0.605	T	0.48636	-0.9018	10	0.72032	D	0.01	-17.5491	9.0491	0.36365	0.0:0.9003:0.0:0.0997	.	282	Q5SQS8	CJ120_HUMAN	Q	282	ENSP00000331012:R282Q	ENSP00000331012:R282Q	R	-	2	0	C10orf120	124447402	0.768000	0.28519	0.072000	0.20136	0.018000	0.09664	3.084000	0.50143	1.369000	0.46134	-0.142000	0.14014	CGA	-	C10orf120	-	NULL		0.413	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	HGNC	protein_coding	OTTHUMT00000050803.1	0	0	0	71	71	126	0.00	0.00	C	NM_001010912		124457412	-1	43	57	24	33	tier1	no_errors	ENST00000329446	ensembl	human	known	74_37	missense	64.18	63.33	SNP	0.128	T	43	24
LRP2	4036	genome.wustl.edu	37	2	170093634	170093634	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:170093634A>G	ENST00000263816.3	-	28	4955	c.4670T>C	c.(4669-4671)cTa>cCa	p.L1557P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1557					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCTAATGCTAGTCCTCTTGG	0.373													ENSG00000081479																																					0													131.0	129.0	130.0					2																	170093634		2203	4300	6503	SO:0001583	missense	0			-		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4670T>C	2.37:g.170093634A>G	ENSP00000263816:p.Leu1557Pro		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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.L1557P	ENST00000263816.3	37	c.4670	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388062	0.82902	.	.	ENSG00000081479	ENST00000263816	D	0.97598	-4.45	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.98865	0.9616	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99727	1.1011	10	0.87932	D	0	.	15.5799	0.76425	1.0:0.0:0.0:0.0	.	1557	P98164	LRP2_HUMAN	P	1557	ENSP00000263816:L1557P	ENSP00000263816:L1557P	L	-	2	0	LRP2	169801880	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.255000	0.95524	2.133000	0.65898	0.528000	0.53228	CTA	-	LRP2	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.373	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	0	0	1	93	93	86	0.00	1.15	A	NM_004525		170093634	-1	7	13	57	76	tier1	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	10.94	14.44	SNP	1.000	G	7	57
TULP1	7287	genome.wustl.edu	37	6	35471347	35471347	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:35471347G>A	ENST00000229771.6	-	13	1391	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TULP1_ENST00000322263.4_Missense_Mutation_p.R385W	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	438					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCGGGGCCGGATGGGGACC	0.622													ENSG00000112041																									GBM(55;1027 1091 11115 23439)												0													17.0	16.0	16.0					6																	35471347		2197	4297	6494	SO:0001583	missense	0			-	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1312C>T	6.37:g.35471347G>A	ENSP00000229771:p.Arg438Trp		O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.R438W	ENST00000229771.6	37	c.1312	CCDS4807.1	6	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826650	0.71143	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.96554	-4.05;-4.05	5.02	4.15	0.48705	Tubby, C-terminal (3);	0.125717	0.52532	D	0.000067	D	0.97838	0.9290	M	0.87617	2.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	D	0.98614	1.0664	10	0.87932	D	0	-20.5031	14.9662	0.71196	0.0:0.0:0.856:0.144	.	385;438	O00294-2;O00294	.;TULP1_HUMAN	W	438;385	ENSP00000229771:R438W;ENSP00000319414:R385W	ENSP00000229771:R438W	R	-	1	2	TULP1	35579325	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.053000	0.64269	1.109000	0.41680	-0.326000	0.08463	CGG	-	TULP1	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.622	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2	0	0	0	110	110	11	0.00	0.00	G			35471347	-1	17	4	71	14	tier1	no_errors	ENST00000229771	ensembl	human	known	74_37	missense	19.32	22.22	SNP	1.000	A	17	71
ILVBL	10994	genome.wustl.edu	37	19	15230044	15230044	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:15230044G>A	ENST00000263383.3	-	9	1123	c.984C>T	c.(982-984)aaC>aaT	p.N328N	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Silent_p.N221N	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	328						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGAGGGGGTGGTTGCGGCCTA	0.637													ENSG00000105135																																					0													62.0	60.0	60.0					19																	15230044		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.984C>T	19.37:g.15230044G>A			O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.N328	ENST00000263383.3	37	c.984	CCDS12325.1	19																																																																																			-	ILVBL	-	pfam_Thiamin_PyroP_enz_cen_dom		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	0	0	0	101	101	48	0.00	0.00	G	NM_006844		15230044	-1	67	25	33	11	tier1	no_errors	ENST00000263383	ensembl	human	known	74_37	silent	67.00	69.44	SNP	1.000	A	67	33
ADH7	131	genome.wustl.edu	37	4	100340163	100340163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:100340163C>T	ENST00000209665.4	-	7	1217	c.977G>A	c.(976-978)tGg>tAg	p.W326*	ADH7_ENST00000437033.2_Nonsense_Mutation_p.W314*|ADH7_ENST00000482593.1_Nonsense_Mutation_p.W257*|ADH7_ENST00000476959.1_Nonsense_Mutation_p.W334*	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	326					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ACATCCCTTCCATGTGCGTCC	0.532													ENSG00000196344																																					0													137.0	113.0	122.0					4																	100340163		2203	4300	6503	SO:0001587	stop_gained	0			-	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.977G>A	4.37:g.100340163C>T	ENSP00000209665:p.Trp326*		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Nonsense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.W326*	ENST00000209665.4	37	c.977	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.196848	0.97367	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	.	.	.	4.53	3.68	0.42216	.	0.057965	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.4967	11.5515	0.50723	0.325:0.675:0.0:0.0	.	.	.	.	X	314;326;257;334	.	ENSP00000209665:W326X	W	-	2	0	ADH7	100559186	1.000000	0.71417	0.530000	0.27963	0.676000	0.39594	4.697000	0.61782	1.090000	0.41315	0.655000	0.94253	TGG	-	ADH7	-	pfam_ADH_C		0.532	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		0	0	0	42	42	139	0.00	0.00	C	NM_000673		100340163	-1	29	43	19	23	tier1	no_errors	ENST00000209665	ensembl	human	known	74_37	nonsense	60.42	65.15	SNP	1.000	T	29	19
ADNP2	22850	genome.wustl.edu	37	18	77894164	77894164	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:77894164C>T	ENST00000262198.4	+	4	1323	c.868C>T	c.(868-870)Cct>Tct	p.P290S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	290	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGCGCAGCCTCCTTGCTTCCA	0.587													ENSG00000101544																																					0													72.0	75.0	74.0					18																	77894164		2203	4300	6503	SO:0001583	missense	0			-	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.868C>T	18.37:g.77894164C>T	ENSP00000262198:p.Pro290Ser		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P290S	ENST00000262198.4	37	c.868	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181324	0.06380	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.27	0.0683	0.14369	.	0.565671	0.17105	N	0.186838	T	0.18045	0.0433	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.13045	-1.0524	8	.	.	.	-11.9511	2.2837	0.04121	0.1293:0.2756:0.1274:0.4678	.	290	Q6IQ32	ADNP2_HUMAN	S	290	.	.	P	+	1	0	ADNP2	75995155	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.241000	0.08940	0.109000	0.17891	-0.145000	0.13849	CCT	-	ADNP2	-	NULL		0.587	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	0	0	0	26	26	36	0.00	0.00	C	NM_014913		77894164	+1	14	18	10	11	tier1	no_errors	ENST00000262198	ensembl	human	known	74_37	missense	58.33	62.07	SNP	0.000	T	14	10
PALB2	79728	genome.wustl.edu	37	16	23641698	23641698	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23641698G>A	ENST00000261584.4	-	5	1929	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	593					DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCATCCCTATGAAATGGAGCC	0.383			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					ENSG00000083093																											yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													62.0	55.0	57.0					16																	23641698		2197	4300	6497	SO:0001583	missense	0			-		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1777C>T	16.37:g.23641698G>A	ENSP00000261584:p.His593Tyr		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.H593Y	ENST00000261584.4	37	c.1777	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060889	0.19987	.	.	ENSG00000083093	ENST00000261584	T	0.16196	2.36	5.52	1.06	0.20224	.	1.242740	0.05465	N	0.551915	T	0.13500	0.0327	L	0.50333	1.59	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.37549	-0.9701	10	0.02654	T	1	4.0096	5.4624	0.16624	0.2426:0.0:0.6192:0.1381	.	593	Q86YC2	PALB2_HUMAN	Y	593	ENSP00000261584:H593Y	ENSP00000261584:H593Y	H	-	1	0	PALB2	23549199	0.002000	0.14202	0.000000	0.03702	0.026000	0.11368	0.158000	0.16422	-0.030000	0.13804	0.655000	0.94253	CAT	-	PALB2	-	NULL		0.383	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	0	0	0	36	36	160	0.00	0.00	G	NM_024675		23641698	-1	14	39	41	123	tier1	no_errors	ENST00000261584	ensembl	human	known	74_37	missense	25.45	24.07	SNP	0.015	A	14	41
SCN11A	11280	genome.wustl.edu	37	3	38889137	38889137	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38889137C>T	ENST00000302328.3	-	26	4622	c.4424G>A	c.(4423-4425)aGg>aAg	p.R1475K	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1437K|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1475K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1475					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCGGACAAGCCTCAGGATTCG	0.488													ENSG00000168356																																					0													49.0	53.0	52.0					3																	38889137		2203	4300	6503	SO:0001583	missense	0			-	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4424G>A	3.37:g.38889137C>T	ENSP00000307599:p.Arg1475Lys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R1475K	ENST00000302328.3	37	c.4424	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.779948	0.96929	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97941	-4.62;-4.62;-4.62	5.81	5.81	0.92471	Ion transport (1);	0.111023	0.64402	D	0.000007	D	0.98560	0.9519	M	0.65975	2.015	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.99667	1.0995	10	0.87932	D	0	.	20.0787	0.97763	0.0:1.0:0.0:0.0	.	1475	Q9UI33	SCNBA_HUMAN	K	1475;1475;1437	ENSP00000307599:R1475K;ENSP00000400945:R1475K;ENSP00000416757:R1437K	ENSP00000307599:R1475K	R	-	2	0	SCN11A	38864141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.789000	0.85783	2.750000	0.94351	0.637000	0.83480	AGG	-	SCN11A	-	pfam_Ion_trans_dom		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	0	0	0	49	49	104	0.00	0.00	C	NM_014139		38889137	-1	13	22	42	75	tier1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	23.64	22.68	SNP	1.000	T	13	42
SUPT6H	6830	genome.wustl.edu	37	17	27015224	27015224	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:27015224C>T	ENST00000314616.6	+	24	3405	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	SUPT6H_ENST00000347486.4_Missense_Mutation_p.S1041F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1041	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GACACGGCCTCCCTGGGGGAC	0.587													ENSG00000109111																																					0													122.0	114.0	117.0					17																	27015224		2203	4300	6503	SO:0001583	missense	0			-	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3122C>T	17.37:g.27015224C>T	ENSP00000319104:p.Ser1041Phe		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_R-bd_dom,pfam_SH2,superfamily_-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_R-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_R-bd_dom	p.S1041F	ENST00000314616.6	37	c.3122	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160371	0.78226	.	.	ENSG00000109111	ENST00000314616	.	.	.	4.95	4.95	0.65309	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.83483	2.645	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.82686	-0.0334	9	0.59425	D	0.04	-15.1237	18.5664	0.91118	0.0:1.0:0.0:0.0	.	1041	Q7KZ85	SPT6H_HUMAN	F	1041	.	ENSP00000319104:S1041F	S	+	2	0	SUPT6H	24039351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.473000	0.83533	0.650000	0.86243	TCC	-	SUPT6H	-	pirsf_TF_Spt6		0.587	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	0	0	0	75	75	98	0.00	0.00	C	NM_003170		27015224	+1	34	41	22	24	tier1	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	60.71	63.08	SNP	1.000	T	34	22
ZFYVE26	23503	genome.wustl.edu	37	14	68249851	68249851	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:68249851G>A	ENST00000347230.4	-	21	4156	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R1340C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1340					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGCGGCCACGAAGTTCCTTC	0.592													ENSG00000072121																																					0													62.0	72.0	69.0					14																	68249851		2203	4300	6503	SO:0001583	missense	0			-	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4018C>T	14.37:g.68249851G>A	ENSP00000251119:p.Arg1340Cys		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R1340C	ENST00000347230.4	37	c.4018	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	8.932	0.963637	0.18583	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29655	1.71;1.56	5.64	2.4	0.29515	.	0.328017	0.29424	N	0.012184	T	0.20820	0.0501	L	0.38838	1.175	0.33853	D	0.632869	B;B	0.18013	0.025;0.014	B;B	0.09377	0.004;0.003	T	0.14476	-1.0471	10	0.41790	T	0.15	-5.4117	7.1926	0.25834	0.274:0.0:0.6072:0.1189	.	1340;1340	G3V2D8;Q68DK2	.;ZFY26_HUMAN	C	1340;1319;1340	ENSP00000251119:R1340C;ENSP00000450603:R1340C	ENSP00000251119:R1340C	R	-	1	0	ZFYVE26	67319604	1.000000	0.71417	0.997000	0.53966	0.564000	0.35744	3.861000	0.56002	0.745000	0.32763	-0.140000	0.14226	CGT	-	ZFYVE26	-	NULL		0.592	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	0	0	0	23	23	106	0.00	0.00	G	NM_015346		68249851	-1	6	14	28	58	tier1	no_errors	ENST00000347230	ensembl	human	known	74_37	missense	17.65	19.44	SNP	0.389	A	6	28
EP400	57634	genome.wustl.edu	37	12	132551346	132551346	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:132551346G>A	ENST00000333577.4	+	50	8798	c.8689G>A	c.(8689-8691)Gcg>Acg	p.A2897T	EP400_ENST00000389562.2_Missense_Mutation_p.A2860T|EP400_ENST00000389561.2_Missense_Mutation_p.A2861T|EP400_ENST00000332482.4_Missense_Mutation_p.A2824T|EP400_ENST00000330386.6_Missense_Mutation_p.A2780T			Q96L91	EP400_HUMAN	E1A binding protein p400	2897				A -> S (in Ref. 1; AAK97789 and 7; AAB91441). {ECO:0000305}.	chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCAGCTGCAGGCGCAAGGGCA	0.587													ENSG00000183495																																					0													48.0	54.0	52.0					12																	132551346		2203	4300	6503	SO:0001583	missense	0			-	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8689G>A	12.37:g.132551346G>A	ENSP00000333602:p.Ala2897Thr		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_D-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_D-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A2897T	ENST00000333577.4	37	c.8689		12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133417	0.77662	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.91792	-2.91;-2.89;-2.86;-2.89;-2.87	4.52	4.52	0.55395	.	0.178985	0.37906	N	0.001887	D	0.93458	0.7913	L	0.32530	0.975	0.41024	D	0.985102	D;D;D;D	0.89917	0.997;0.998;0.998;1.0	D;D;D;D	0.87578	0.98;0.991;0.991;0.998	D	0.93598	0.6927	10	0.41790	T	0.15	.	17.2675	0.87092	0.0:0.0:1.0:0.0	.	2897;2861;2780;2860	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	T	2897;2861;2860;2824;2780;2861	ENSP00000333602:A2897T;ENSP00000374212:A2861T;ENSP00000374213:A2860T;ENSP00000331737:A2824T;ENSP00000330620:A2780T	ENSP00000330620:A2780T	A	+	1	0	EP400	131117299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.452000	0.73485	2.068000	0.61886	0.561000	0.74099	GCG	-	EP400	-	NULL		0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		0	0	0	77	77	53	0.00	0.00	G	NM_015409		132551346	+1	16	15	37	42	tier1	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	29.63	25.86	SNP	1.000	A	16	37
PPARGC1A	10891	genome.wustl.edu	37	4	23803471	23803471	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:23803471G>A	ENST00000264867.2	-	12	2294	c.2175C>T	c.(2173-2175)acC>acT	p.T725T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	725	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AAGCATCACAGGTATAACGGT	0.403													ENSG00000109819																									Esophageal Squamous(29;694 744 13796 34866 44181)												0													96.0	86.0	89.0					4																	23803471		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2175C>T	4.37:g.23803471G>A			B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T725	ENST00000264867.2	37	c.2175	CCDS3429.1	4																																																																																			-	PPARGC1A	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.403	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	0	0	0	36	36	172	0.00	0.00	G	NM_013261		23803471	-1	15	70	13	49	tier1	no_errors	ENST00000264867	ensembl	human	known	74_37	silent	53.57	58.33	SNP	1.000	A	15	13
ATP5B	506	genome.wustl.edu	37	12	57033081	57033081	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:57033081G>A	ENST00000262030.3	-	9	1348	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.S422F|BAZ2A_ENST00000551812.1_5'Flank|BAZ2A_ENST00000379441.3_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	433					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTGGAGGGATTTGTAGTC	0.433													ENSG00000110955																																					0													60.0	58.0	59.0					12																	57033081		2203	4300	6503	SO:0001583	missense	0			-	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1298C>T	12.37:g.57033081G>A	ENSP00000262030:p.Ser433Phe		A8K4X0|Q14283	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu	p.S433F	ENST00000262030.3	37	c.1298	CCDS8924.1	12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822234	0.90873	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551020	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.69	5.69	0.88448	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.91196	3.185	0.80722	D	1	B	0.11235	0.004	B	0.20955	0.032	T	0.82400	-0.0476	10	0.72032	D	0.01	-4.569	18.6482	0.91419	0.0:0.0:1.0:0.0	.	433	P06576	ATPB_HUMAN	F	433;422;136;248	ENSP00000262030:S433F;ENSP00000450297:S422F;ENSP00000450233:S136F;ENSP00000446677:S248F	ENSP00000262030:S433F	S	-	2	0	ATP5B	55319348	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.594000	0.98254	2.712000	0.92718	0.650000	0.86243	TCC	-	ATP5B	-	pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_bsu		0.433	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5B	HGNC	protein_coding	OTTHUMT00000408380.1	0	0	0	40	40	87	0.00	0.00	G	NM_001686		57033081	-1	13	14	22	37	tier1	no_errors	ENST00000262030	ensembl	human	known	74_37	missense	37.14	27.45	SNP	1.000	A	13	22
FBXW8	26259	genome.wustl.edu	37	12	117365893	117365893	+	Silent	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:117365893T>C	ENST00000309909.5	+	2	466	c.384T>C	c.(382-384)ttT>ttC	p.F128F	FBXW8_ENST00000455858.2_Silent_p.F62F			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	128	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TCAATATATTTCAGTATCTGG	0.358													ENSG00000174989																																					0													110.0	102.0	105.0					12																	117365893		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.384T>C	12.37:g.117365893T>C			Q9UK95	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F128	ENST00000309909.5	37	c.384	CCDS9182.1	12																																																																																			-	FBXW8	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom		0.358	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	0	0	0	36	36	133	0.00	0.00	T	NM_012174		117365893	+1	6	35	27	59	tier1	no_errors	ENST00000309909	ensembl	human	known	74_37	silent	18.18	37.23	SNP	1.000	C	6	27
MALAT1	378938	genome.wustl.edu	37	11	65266996	65266996	+	lincRNA	SNP	C	C	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:65266996C>G	ENST00000534336.1	+	0	1764				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GATTAAAAGACCTTGAAATCC	0.343													ENSG00000251562																																					0													8.0	8.0	8.0					11																	65266996		868	1975	2843			0			-	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266996C>G				R	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			-	MALAT1	-	-		0.343	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	0	0	0	179	179	96	0.00	0.00	C	NR_002819		65266996	+1	63	55	109	105	tier1	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	36.00	34.38	SNP	0.000	G	63	109
GRM8	2918	genome.wustl.edu	37	7	126746678	126746678	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:126746678G>A	ENST00000339582.2	-	3	1407	c.599C>T	c.(598-600)tCc>tTc	p.S200F	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S200F|GRM8_ENST00000405249.1_Missense_Mutation_p.S200F|GRM8_ENST00000358373.3_Missense_Mutation_p.S200F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	200					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGCTTGGTAGGAGTCAGGCGG	0.502										HNSCC(24;0.065)			ENSG00000179603																																					0													153.0	144.0	147.0					7																	126746678		2203	4300	6503	SO:0001583	missense	0			-		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.599C>T	7.37:g.126746678G>A	ENSP00000344173:p.Ser200Phe		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.S200F	ENST00000339582.2	37	c.599	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407505	0.42715	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	L	0.38953	1.18	0.80722	D	1	D;P	0.69078	0.997;0.91	D;P	0.80764	0.994;0.781	D	0.85636	0.1273	10	0.33940	T	0.23	.	17.5651	0.87917	0.0:0.0:1.0:0.0	.	200;200	O00222-2;O00222	.;GRM8_HUMAN	F	200;200;200;200;200;10	ENSP00000344173:S200F;ENSP00000409790:S200F;ENSP00000351142:S200F;ENSP00000385731:S200F;ENSP00000415522:S200F;ENSP00000418255:S10F	ENSP00000344173:S200F	S	-	2	0	GRM8	126533914	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.386000	0.81285	0.563000	0.77884	TCC	-	GRM8	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	0	0	0	48	48	158	0.00	0.00	G			126746678	-1	21	26	27	53	tier1	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	43.75	32.91	SNP	1.000	A	21	27
MAP3K5	4217	genome.wustl.edu	37	6	136944022	136944022	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:136944022C>T	ENST00000359015.4	-	15	2474	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	MAP3K5_ENST00000355845.4_Intron	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	705	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AATAGCAATTCTGACTTGGTT	0.398													ENSG00000197442																																					0													192.0	189.0	190.0					6																	136944022		2203	4300	6503	SO:0001583	missense	0			-	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2114G>A	6.37:g.136944022C>T	ENSP00000351908:p.Arg705Lys		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R705K	ENST00000359015.4	37	c.2114	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831270	0.91036	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.64260	-0.09	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045384	0.85682	D	0.000000	T	0.58694	0.2140	N	0.11845	0.185	0.80722	D	1	B;P	0.49447	0.252;0.924	B;D	0.72075	0.35;0.976	T	0.59500	-0.7443	10	0.30078	T	0.28	.	20.3422	0.98769	0.0:1.0:0.0:0.0	.	785;705	Q59GL6;Q99683	.;M3K5_HUMAN	K	705;785	ENSP00000351908:R705K	ENSP00000351908:R705K	R	-	2	0	MAP3K5	136985715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.810000	0.96702	0.655000	0.94253	AGA	-	MAP3K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.398	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	0	0	0	77	77	122	0.00	0.00	C			136944022	-1	16	60	38	99	tier1	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	29.63	37.50	SNP	1.000	T	16	38
NLGN4Y	22829	genome.wustl.edu	37	Y	16952665	16952665	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrY:16952665C>T	ENST00000476359.1	+	0	2519							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						AAACAGGGCCCGAGGACACAA	0.532													ENSG00000165246																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2516C>T	Y.37:g.16952665C>T			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Silent	SNP	pfam_CarbesteraseB,prints_Neuroligin	p.P715	ENST00000476359.1	37	c.2145		Y																																																																																			-	NLGN4Y	-	NULL		0.532	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2	0	0	0	31	31	60	0.00	0.00	C	NM_014893		16952665	+1	5	2	17	18	tier1	no_errors	ENST00000382868	ensembl	human	known	74_37	silent	22.73	10.00	SNP	0.737	T	5	17
ZNF890P	645700	genome.wustl.edu	37	7	5161484	5161484	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:5161484G>A	ENST00000422060.2	-	0	1070					NR_034163.1				zinc finger protein 890, pseudogene																		TGAGCTGCAGGAACTCCCTCG	0.547													ENSG00000159904																																					0																																												0			-			7p22.1	2011-05-24			ENSG00000159904	ENSG00000159904			38691	pseudogene	pseudogene							Standard	NR_034163		Approved		uc003snu.1		OTTHUMG00000166790		7.37:g.5161484G>A				R	SNP	-	NULL	ENST00000422060.2	37	NULL		7																																																																																			-	ZNF890P	-	-		0.547	ZNF890P-002	KNOWN	basic	processed_transcript	ZNF890P	HGNC	pseudogene	OTTHUMT00000391474.1	0	0	0	46	46	68	0.00	0.00	G	NR_034163		5161484	-1	12	19	30	27	tier1	no_errors	ENST00000422060	ensembl	human	known	74_37	rna	28.57	41.30	SNP	0.000	A	12	30
ACSM2B	348158	genome.wustl.edu	37	16	20566767	20566767	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:20566767C>T	ENST00000329697.6	-	4	588	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_ENST00000565232.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M61I|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M140I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	140					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTGGATTTCATCTGGATGG	0.428													ENSG00000066813																																					0													58.0	56.0	57.0					16																	20566767		2201	4297	6498	SO:0001583	missense	0			-	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.420G>A	16.37:g.20566767C>T	ENSP00000327453:p.Met140Ile		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.M140I	ENST00000329697.6	37	c.420	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559395	0.27827	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.39056	1.1;1.1	3.02	3.02	0.34903	AMP-dependent synthetase/ligase (1);	0.127393	0.35870	N	0.002934	T	0.32133	0.0819	L	0.31752	0.955	0.28891	N	0.893827	B;B	0.26483	0.15;0.15	B;B	0.34385	0.181;0.181	T	0.35126	-0.9801	10	0.87932	D	0	-18.5483	8.1085	0.30900	0.0:0.8738:0.0:0.1262	.	140;140	A8K051;Q68CK6	.;ACS2B_HUMAN	I	140	ENSP00000327453:M140I;ENSP00000390378:M140I	ENSP00000327453:M140I	M	-	3	0	ACSM2B	20474268	1.000000	0.71417	0.968000	0.41197	0.390000	0.30446	0.654000	0.24918	1.686000	0.51046	0.543000	0.68304	ATG	-	ACSM2B	-	pfam_AMP-dep_Synth/Lig		0.428	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	0	0	1	107	107	75	0.00	1.32	C	NM_182617		20566767	-1	29	23	55	39	tier1	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	34.52	37.10	SNP	0.950	T	29	55
CYP4F22	126410	genome.wustl.edu	37	19	15636237	15636237	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:15636237C>T	ENST00000269703.3	+	3	289	c.90C>T	c.(88-90)ttC>ttT	p.F30F	CYP4F22_ENST00000601005.2_Silent_p.F30F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	30						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.F30L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TTCTCCTCTTCCTGCTCTTCT	0.647													ENSG00000171954																																					1	Substitution - Missense(1)	lung(1)											152.0	106.0	122.0					19																	15636237		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.90C>T	19.37:g.15636237C>T			Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F30	ENST00000269703.3	37	c.90	CCDS12331.1	19																																																																																			-	CYP4F22	-	NULL		0.647	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	0	0	0	31	31	49	0.00	0.00	C	NM_173483		15636237	+1	21	20	6	15	tier1	no_errors	ENST00000269703	ensembl	human	known	74_37	silent	77.78	57.14	SNP	0.000	T	21	6
MOSPD3	64598	genome.wustl.edu	37	7	100212794	100212794	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:100212794C>T	ENST00000393950.2	+	5	978	c.696C>T	c.(694-696)ttC>ttT	p.F232F	MOSPD3_ENST00000223054.4_Silent_p.F232F|MOSPD3_ENST00000379527.2_Silent_p.F232F|MOSPD3_ENST00000424091.2_Silent_p.F222F	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	232					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCATGGTGTTCCTCCGGACCT	0.627													ENSG00000106330																																					0													110.0	102.0	104.0					7																	100212794		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.696C>T	7.37:g.100212794C>T			A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom	p.F232	ENST00000393950.2	37	c.696	CCDS5701.1	7																																																																																			-	MOSPD3	-	NULL		0.627	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOSPD3	HGNC	protein_coding	OTTHUMT00000356395.1	0	0	0	74	74	90	0.00	0.00	C	NM_023948		100212794	+1	15	20	21	36	tier1	no_errors	ENST00000223054	ensembl	human	known	74_37	silent	41.67	35.71	SNP	0.999	T	15	21
HS6ST2	90161	genome.wustl.edu	37	X	131762776	131762776	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:131762776G>A	ENST00000370836.2	-	4	1708	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	HS6ST2_ENST00000521489.1_Silent_p.F471F|HS6ST2_ENST00000370833.2_Silent_p.F325F|HS6ST2_ENST00000406696.3_Silent_p.F157F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	431					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CAGTGAGGCCGAAGAACGCCA	0.458													ENSG00000171004																																					0													88.0	85.0	86.0					X																	131762776		1955	4142	6097	SO:0001819	synonymous_variant	0			-	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1293C>T	X.37:g.131762776G>A			B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.F471	ENST00000370836.2	37	c.1413	CCDS48169.1	X																																																																																			-	HS6ST2	-	pfam_Sulfotransferase		0.458	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	0	0	0	29	29	70	0.00	0.00	G	NM_147174		131762776	-1	21	57	14	26	tier1	no_errors	ENST00000521489	ensembl	human	known	74_37	silent	60.00	68.67	SNP	0.043	A	21	14
PLS1	5357	genome.wustl.edu	37	3	142403136	142403136	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:142403136C>T	ENST00000337777.3	+	8	1000	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	PLS1_ENST00000497002.1_Silent_p.L263L|PLS1_ENST00000457734.2_Silent_p.L263L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	263	Actin-binding 1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACTAGAGGAGCTGATGAAGCT	0.443													ENSG00000120756																																					0													113.0	106.0	108.0					3																	142403136		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.787C>T	3.37:g.142403136C>T			A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.L263	ENST00000337777.3	37	c.787	CCDS3125.1	3																																																																																			-	PLS1	-	superfamily_CH-domain		0.443	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	0	0	0	48	48	97	0.00	0.00	C	NM_002670		142403136	+1	18	19	56	40	tier1	no_errors	ENST00000337777	ensembl	human	known	74_37	silent	24.32	32.20	SNP	1.000	T	18	56
TMEM132C	92293	genome.wustl.edu	37	12	129190241	129190241	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:129190241G>A	ENST00000435159.2	+	9	2728	c.2728G>A	c.(2728-2730)Gaa>Aaa	p.E910K	TMEM132C_ENST00000537538.1_Missense_Mutation_p.E295K|TMEM132C_ENST00000315208.8_Missense_Mutation_p.E526K	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	910						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TGGGCTGGAGGAAAACGACCT	0.632													ENSG00000181234																																					0													19.0	27.0	24.0					12																	129190241		692	1591	2283	SO:0001583	missense	0			-	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2728G>A	12.37:g.129190241G>A	ENSP00000410852:p.Glu910Lys		Q69YX8	Missense_Mutation	SNP	NULL	p.E910K	ENST00000435159.2	37	c.2728		12	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768585	0.31320	.	.	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.14144	2.53;2.53;2.53	4.62	3.71	0.42584	.	0.294547	0.27482	N	0.019162	T	0.21468	0.0517	M	0.72894	2.215	0.47308	D	0.999385	P	0.41232	0.743	B	0.42593	0.392	T	0.02736	-1.1117	10	0.52906	T	0.07	.	14.4754	0.67541	0.0:0.1481:0.8519:0.0	.	910	Q8N3T6	T132C_HUMAN	K	910;526;295	ENSP00000410852:E910K;ENSP00000324458:E526K;ENSP00000438477:E295K	ENSP00000324458:E526K	E	+	1	0	TMEM132C	127756194	1.000000	0.71417	0.011000	0.14972	0.009000	0.06853	6.782000	0.75073	0.899000	0.36444	0.655000	0.94253	GAA	-	TMEM132C	-	NULL		0.632	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		0	0	0	67	67	53	0.00	0.00	G	XM_044062		129190241	+1	10	10	33	25	tier1	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	23.26	28.57	SNP	1.000	A	10	33
LAMA1	284217	genome.wustl.edu	37	18	7042207	7042207	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:7042207C>T	ENST00000389658.3	-	9	1291	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	400	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCCACAGGGTCACAATTACAG	0.443													ENSG00000101680																																					0													60.0	50.0	53.0					18																	7042207		2203	4300	6503	SO:0001583	missense	0			-	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1198G>A	18.37:g.7042207C>T	ENSP00000374309:p.Asp400Asn			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D400N	ENST00000389658.3	37	c.1198	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954491	0.73902	.	.	ENSG00000101680	ENST00000389658	T	0.60299	0.2	5.81	3.01	0.34805	EGF-like, laminin (3);	0.053950	0.64402	N	0.000001	T	0.60470	0.2271	L	0.37750	1.13	0.49299	D	0.999771	D	0.76494	0.999	D	0.79784	0.993	T	0.53344	-0.8452	10	0.23302	T	0.38	.	7.793	0.29131	0.0:0.7243:0.1332:0.1425	.	400	P25391	LAMA1_HUMAN	N	400	ENSP00000374309:D400N	ENSP00000374309:D400N	D	-	1	0	LAMA1	7032207	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.481000	0.45215	0.350000	0.24002	0.655000	0.94253	GAC	-	LAMA1	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	0	0	0	45	45	86	0.00	0.00	C	NM_005559		7042207	-1	20	33	13	19	tier1	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	60.61	63.46	SNP	1.000	T	20	13
RPL13A	23521	genome.wustl.edu	37	19	49990694	49990694	+	5'Flank	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49990694G>A	ENST00000391857.4	+	0	0				CTD-3148I10.15_ENST00000595815.1_RNA|SNORD32A_ENST00000364805.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a						cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCAACCGGAAGAATGTCCGGA	0.672													ENSG00000273189																																					0																																										SO:0001631	upstream_gene_variant	0			-	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289		19.37:g.49990694G>A	Exception_encountered		A8K505	R	SNP	-	NULL	ENST00000391857.4	37	NULL	CCDS12768.1	19																																																																																			-	CTD-3148I10.15	-	-		0.672	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273189	Clone_based_vega_gene	protein_coding	OTTHUMT00000258989.1	0	0	0	21	21	31	0.00	0.00	G			49990694	+1	15	25	10	10	tier1	no_errors	ENST00000595815	ensembl	human	known	74_37	rna	60.00	71.43	SNP	0.000	A	15	10
AXDND1	126859	genome.wustl.edu	37	1	179354442	179354442	+	Nonsense_Mutation	SNP	C	C	T	rs149782250		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:179354442C>T	ENST00000367618.3	+	9	1198	c.811C>T	c.(811-813)Cga>Tga	p.R271*	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Nonsense_Mutation_p.R271*	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	271										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGAACTTATTCGACAAGTCAG	0.358													ENSG00000162779																																					0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	168.0	160.0	163.0		811	3.8	1.0	1	dbSNP_134	163	0,8600		0,0,4300	no	stop-gained	AXDND1	NM_144696.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/1013	179354442	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			-	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.811C>T	1.37:g.179354442C>T	ENSP00000356590:p.Arg271*		Q6AWB2|Q96LJ3|Q96M01	Nonsense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R271*	ENST00000367618.3	37	c.811	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204491	0.58234	2.27E-4	0.0	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	.	.	.	5.71	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0E-4	8.8095	0.34959	0.1605:0.761:0.0:0.0786	.	.	.	.	X	271;229;271;205	.	ENSP00000353471:R229X	R	+	1	2	AXDND1	177621065	1.000000	0.71417	0.986000	0.45419	0.844000	0.47949	2.321000	0.43805	0.733000	0.32492	-0.274000	0.10170	CGA	rs149782250	AXDND1	-	pfam_Axonemal_dynein_light_chain		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	0	0	0	142	142	95	0.00	0.00	C	NM_144696		179354442	+1	38	30	89	32	tier1	no_errors	ENST00000367618	ensembl	human	known	74_37	nonsense	29.92	48.39	SNP	0.998	T	38	89
ENAM	10117	genome.wustl.edu	37	4	71509597	71509597	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:71509597G>A	ENST00000396073.3	+	9	2735	c.2454G>A	c.(2452-2454)caG>caA	p.Q818Q	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	818					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTGGGCTTCAGAAAAATCCAA	0.433													ENSG00000132464																																					0													76.0	79.0	78.0					4																	71509597		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2454G>A	4.37:g.71509597G>A			Q17RI5|Q9H3D1	Silent	SNP	NULL	p.Q818	ENST00000396073.3	37	c.2454	CCDS3544.2	4																																																																																			-	EM	-	NULL		0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EM	HGNC	protein_coding	OTTHUMT00000252166.3	0	0	0	52	52	195	0.00	0.00	G	NM_031889		71509597	+1	31	61	15	44	tier1	no_errors	ENST00000396073	ensembl	human	known	74_37	silent	67.39	58.10	SNP	1.000	A	31	15
ITIH2	3698	genome.wustl.edu	37	10	7759616	7759616	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:7759616C>A	ENST00000358415.4	+	6	661	c.495C>A	c.(493-495)ttC>ttA	p.F165L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F154L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	165	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGGAAAACTTCAGAACGGAAG	0.493													ENSG00000151655																																					0													165.0	172.0	169.0					10																	7759616		2203	4300	6503	SO:0001583	missense	0			-	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.495C>A	10.37:g.7759616C>A	ENSP00000351190:p.Phe165Leu		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.F165L	ENST00000358415.4	37	c.495	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636337	0.47049	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.58210	0.35;0.35;0.35	5.25	3.39	0.38822	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.86864	2.845	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.74839	-0.3528	10	0.87932	D	0	-22.5611	8.5713	0.33572	0.0:0.7674:0.0:0.2326	.	165	P19823	ITIH2_HUMAN	L	165;140;154	ENSP00000351190:F165L;ENSP00000388826:F140L;ENSP00000368906:F154L	ENSP00000351190:F165L	F	+	3	2	ITIH2	7799622	0.997000	0.39634	0.993000	0.49108	0.058000	0.15608	0.538000	0.23160	1.194000	0.43101	0.563000	0.77884	TTC	-	ITIH2	-	pfam_VIT,smart_VIT		0.493	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	0	0	0	84	84	102	0.00	0.00	C	NM_002216		7759616	+1	36	28	59	77	tier1	no_errors	ENST00000358415	ensembl	human	known	74_37	missense	37.89	26.67	SNP	0.998	A	36	59
TTN	7273	genome.wustl.edu	37	2	179485012	179485012	+	Silent	SNP	G	G	A	rs368200299		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179485012G>A	ENST00000591111.1	-	198	41537	c.41313C>T	c.(41311-41313)tgC>tgT	p.C13771C	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.C6539C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.C15412C|TTN_ENST00000342992.6_Silent_p.C12844C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.C6472C|TTN_ENST00000460472.2_Silent_p.C6347C|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13771	Ig-like 94.				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)			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)			TGGAGAGCTGGCAGGAGAAGA	0.418													ENSG00000155657																																					0								G	,,,	0,3736		0,0,1868	94.0	92.0	93.0		19041,38532,19416,19617	2.7	1.0	2		93	1,8219		0,1,4109	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	,,,	6347/26927,12844/33424,6472/27052,6539/27119	179485012	1,11955	1868	4110	5978	SO:0001819	synonymous_variant	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.41313C>T	2.37:g.179485012G>A			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	Silent	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.C12844	ENST00000591111.1	37	c.38532		2																																																																																			-	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	50	50	116	0.00	0.00	G	NM_133378		179485012	-1	13	19	35	82	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	27.08	18.81	SNP	1.000	A	13	35
GRM7	2917	genome.wustl.edu	37	3	7728066	7728066	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:7728066G>A	ENST00000357716.4	+	9	2972				GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000402647.2_Silent_p.K907K|GRM7_ENST00000486284.1_Silent_p.K907K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.K907N(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAGTAAGAAAGAGTGTACAAA	0.289													ENSG00000196277																																					1	Substitution - Missense(1)	breast(1)											67.0	67.0	67.0					3																	7728066		2203	4299	6502	SO:0001627	intron_variant	0			-	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2698+6084G>A	3.37:g.7728066G>A			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.K907	ENST00000357716.4	37	c.2721	CCDS43042.1	3																																																																																			-	GRM7	-	NULL		0.289	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	0	0	0	197	197	121	0.00	0.00	G	NM_000844		7728066	+1	47	40	206	98	tier1	no_errors	ENST00000402647	ensembl	human	known	74_37	silent	18.58	28.99	SNP	1.000	A	47	206
TPSAB1	7177	genome.wustl.edu	37	16	1291582	1291582	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:1291582G>A	ENST00000338844.3	+	4	414	c.381G>A	c.(379-381)ctG>ctA	p.L127L	TPSAB1_ENST00000461509.2_Silent_p.L134L	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	127	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TGCTGGAGCTGGAGGAGCCGG	0.662													ENSG00000172236																																					0													15.0	12.0	13.0					16																	1291582		2170	4254	6424	SO:0001819	synonymous_variant	0			-	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.381G>A	16.37:g.1291582G>A			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L127	ENST00000338844.3	37	c.381	CCDS10431.1	16																																																																																			-	TPSAB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.662	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	0	0	0	45	45	41	0.00	0.00	G	NM_003294		1291582	+1	10	8	22	19	tier1	no_errors	ENST00000338844	ensembl	human	known	74_37	silent	31.25	29.63	SNP	0.003	A	10	22
SLC38A4	55089	genome.wustl.edu	37	12	47173580	47173580	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:47173580G>A	ENST00000447411.1	-	8	847	c.641C>T	c.(640-642)tCg>tTg	p.S214L	SLC38A4_ENST00000266579.4_Missense_Mutation_p.S214L	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	214					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTTAAGGAGCGAAAGTGGAAG	0.308													ENSG00000139209																																					0													62.0	60.0	61.0					12																	47173580		2203	4299	6502	SO:0001583	missense	0			-	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.641C>T	12.37:g.47173580G>A	ENSP00000389843:p.Ser214Leu		A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.S214L	ENST00000447411.1	37	c.641	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651051	0.88056	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477	T;T;T	0.03889	3.77;3.77;3.77	5.4	5.4	0.78164	.	0.120500	0.64402	D	0.000015	T	0.28101	0.0693	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.03221	-1.1059	10	0.72032	D	0.01	-20.5436	19.5387	0.95266	0.0:0.0:1.0:0.0	.	214	Q969I6	S38A4_HUMAN	L	214	ENSP00000389843:S214L;ENSP00000266579:S214L;ENSP00000450071:S214L	ENSP00000266579:S214L	S	-	2	0	SLC38A4	45459847	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.420000	0.97426	2.686000	0.91538	0.555000	0.69702	TCG	-	SLC38A4	-	pfam_AA_transpt_TM		0.308	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	0	0	0	120	120	95	0.00	0.00	G			47173580	-1	34	31	79	41	tier1	no_errors	ENST00000266579	ensembl	human	known	74_37	missense	30.09	43.06	SNP	1.000	A	34	79
SNHG24	101929369	genome.wustl.edu	37	14	101435286	101435286	+	lincRNA	SNP	G	G	A	rs371131977		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:101435286G>A	ENST00000554693.2	+	0	212				SNORD114-10_ENST00000363409.1_RNA|SNORD114-13_ENST00000364377.1_RNA|SNORD114-12_ENST00000365400.1_RNA|SNORD114-9_ENST00000364370.1_RNA|SNORD114-11_ENST00000363738.1_RNA																							GGCCCTTCCTGGACCAATGAT	0.348													ENSG00000202270																																					0								G		0,1752		0,0,876	109.0	108.0	108.0			2.0	0.0	14		108	1,3981		0,1,1990	no	intergenic				0,1,2866	AA,AG,GG		0.0251,0.0,0.0174			101435286	1,5733	876	1991	2867			0			-																													14.37:g.101435286G>A				R	SNP	-	NULL	ENST00000554693.2	37	NULL		14																																																																																			-	SNORD114-12	-	-		0.348	RP11-909M7.3-001	KNOWN	basic	lincRNA	SNORD114-12	HGNC	lincRNA	OTTHUMT00000468646.1	0	0	0	179	179	99	0.00	0.00	G			101435286	+1	88	47	101	72	tier1	no_errors	ENST00000365400	ensembl	human	known	74_37	rna	46.56	39.17	SNP	0.002	A	88	101
FGD5	152273	genome.wustl.edu	37	3	14964629	14964629	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:14964629G>A	ENST00000285046.5	+	16	3994	c.3884G>A	c.(3883-3885)gGc>gAc	p.G1295D	FGD5_ENST00000543601.1_Missense_Mutation_p.G1054D|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1295					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTCTGCGACGGCTGCTTCGGG	0.612													ENSG00000154783																																					0													47.0	50.0	49.0					3																	14964629		1980	4157	6137	SO:0001583	missense	0			-	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3884G>A	3.37:g.14964629G>A	ENSP00000285046:p.Gly1295Asp		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.G1295D	ENST00000285046.5	37	c.3884	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419657	0.62622	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.70749	-0.51;-0.51	4.79	4.79	0.61399	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.110120	0.40554	N	0.001071	T	0.67869	0.2939	N	0.05441	-0.05	0.48040	D	0.999572	P;D	0.71674	0.947;0.998	P;D	0.68765	0.849;0.96	T	0.66081	-0.6012	10	0.14252	T	0.57	-36.926	17.8447	0.88727	0.0:0.0:1.0:0.0	.	1054;1295	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	1295;1054	ENSP00000285046:G1295D;ENSP00000445949:G1054D	ENSP00000285046:G1295D	G	+	2	0	FGD5	14939633	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.857000	0.62939	2.200000	0.70718	0.484000	0.47621	GGC	-	FGD5	-	pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	0	0	0	36	36	69	0.00	0.00	G	NM_152536		14964629	+1	19	29	29	19	tier1	no_errors	ENST00000285046	ensembl	human	known	74_37	missense	39.58	60.42	SNP	1.000	A	19	29
FHIT	2272	genome.wustl.edu	37	3	59737921	59737921	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:59737921G>A	ENST00000468189.1	-	0	845				FHIT_ENST00000492590.1_Intron|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Intron			P49789	FHIT_HUMAN	fragile histidine triad						DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GGGAGGGTCTGGGTAATGACG	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				ENSG00000189283																												Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0													46.0	42.0	43.0					3																	59737921		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0	Familial Cancer Database		-	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.*31C>T	3.37:g.59737921G>A			A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	R	SNP	-	NULL	ENST00000468189.1	37	NULL	CCDS2894.1	3																																																																																			-	FHIT	-	-		0.542	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1	0	0	0	100	100	125	0.00	0.00	G	NM_002012		59737921	-1	34	44	59	82	tier1	no_errors	ENST00000466788	ensembl	human	known	74_37	rna	36.56	34.92	SNP	0.000	A	34	59
ADAMTS2	9509	genome.wustl.edu	37	5	178585761	178585761	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:178585761G>A	ENST00000251582.7	-	6	1196	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	ADAMTS2_ENST00000274609.5_Silent_p.F365F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	365	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCCGTGTGAGGAAGATGGCGT	0.612													ENSG00000087116																																					0													160.0	138.0	145.0					5																	178585761		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1095C>T	5.37:g.178585761G>A				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.F365	ENST00000251582.7	37	c.1095	CCDS4444.1	5																																																																																			-	ADAMTS2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.612	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	0	0	0	52	52	89	0.00	0.00	G	NM_014244		178585761	-1	21	36	21	25	tier1	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	50.00	59.02	SNP	0.998	A	21	21
MYOCD	93649	genome.wustl.edu	37	17	12659837	12659837	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:12659837G>A	ENST00000343344.4	+	11	2058				MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.G626E|MYOCD_ENST00000425538.1_Missense_Mutation_p.G722E			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGTGCCGGGGGAAACCCTTGT	0.557													ENSG00000141052																																					0													75.0	71.0	72.0					17																	12659837		692	1591	2283	SO:0001627	intron_variant	0			-	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2059-1565G>A	17.37:g.12659837G>A			Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.G722E	ENST00000343344.4	37	c.2165	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	G	2.142	-0.396461	0.04899	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000395988;ENST00000443061	T	0.39592	1.07	4.99	0.316	0.15857	.	0.793698	0.11980	N	0.510839	T	0.23014	0.0556	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25609	0.079;0.13;0.005	B;B;B	0.26969	0.021;0.075;0.003	T	0.29941	-0.9995	10	0.02654	T	1	-0.4471	6.1313	0.20207	0.091:0.0:0.417:0.492	.	441;626;722	E9PEP9;Q8IZQ8-2;Q8IZQ8-3	.;.;.	E	441;722;626;427	ENSP00000400148:G427E	ENSP00000379306:G441E	G	+	2	0	MYOCD	12600562	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.075000	0.14686	0.251000	0.21505	0.655000	0.94253	GGA	-	MYOCD	-	NULL		0.557	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	0	0	0	89	89	114	0.00	0.00	G	NM_153604		12659837	+1	40	53	26	26	tier1	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	60.61	67.09	SNP	0.000	A	40	26
CRTAC1	55118	genome.wustl.edu	37	10	99661287	99661287	+	Missense_Mutation	SNP	C	C	G	rs368780856		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99661287C>G	ENST00000370597.3	-	8	1461	c.1106G>C	c.(1105-1107)cGc>cCc	p.R369P	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R369P|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R369P	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	369						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGAGGAGCTGCGGTAGGCAAT	0.572													ENSG00000095713																																					0													125.0	100.0	109.0					10																	99661287		2203	4300	6503	SO:0001583	missense	0			-	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1106G>C	10.37:g.99661287C>G	ENSP00000359629:p.Arg369Pro		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.R369P	ENST00000370597.3	37	c.1106	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657495	0.67586	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	4.27	4.27	0.50696	.	0.064020	0.64402	D	0.000014	T	0.41236	0.1150	M	0.72479	2.2	0.58432	D	0.999993	D;D;D	0.71674	0.997;0.998;0.997	P;P;P	0.59221	0.851;0.835;0.854	T	0.31447	-0.9943	10	0.38643	T	0.18	-15.4033	16.9023	0.86117	0.0:1.0:0.0:0.0	.	369;369;265	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	P	265;369;369;361;369	ENSP00000408445:R265P;ENSP00000359629:R369P;ENSP00000298819:R369P;ENSP00000310810:R361P;ENSP00000359623:R369P	ENSP00000298819:R369P	R	-	2	0	CRTAC1	99651277	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.699000	0.61796	2.208000	0.71279	0.462000	0.41574	CGC	-	CRTAC1	-	NULL		0.572	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	0	0	1	93	93	63	0.00	1.56	C	NM_018058		99661287	-1	41	27	22	21	tier1	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	65.08	55.10	SNP	1.000	G	41	22
ARPP21	10777	genome.wustl.edu	37	3	35732379	35732379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:35732379C>T	ENST00000187397.4	+	9	1024	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	ARPP21_ENST00000458225.1_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.Q190*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	190	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAGTTCCCTCAGATGTCATC	0.343													ENSG00000172995																																					0													89.0	84.0	86.0					3																	35732379		2202	4300	6502	SO:0001587	stop_gained	0			-	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.568C>T	3.37:g.35732379C>T	ENSP00000187397:p.Gln190*		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q190*	ENST00000187397.4	37	c.568	CCDS2661.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.171613|5.171613	0.94807|0.94807	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.129444|.	0.56097|.	D|.	0.000035|.	.|T	.|0.79975	.|0.4539	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77464	.|-0.2578	.|3	0.41790|.	T|.	0.15|.	-11.9448|-11.9448	20.1421|20.1421	0.98061|0.98061	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	190|31	.|.	ENSP00000187397:Q190X|.	Q|S	+|+	1|2	0|0	ARPP21|ARPP21	35707383|35707383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.286000|0.286000	0.27126|0.27126	7.701000|7.701000	0.84566|0.84566	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CAG|TCA	-	ARPP21	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.343	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	0	0	0	128	128	91	0.00	0.00	C	NM_198399		35732379	+1	56	46	79	48	tier1	no_errors	ENST00000417925	ensembl	human	known	74_37	nonsense	41.48	48.94	SNP	1.000	T	56	79
DHRSX	207063	genome.wustl.edu	37	X	2209608	2209608	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:2209608G>A	ENST00000334651.5	-	4	375	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	108							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGCCGGATGGAAGTCATGGA	0.418													ENSG00000169084																																					0													233.0	228.0	230.0					X																	2209608		2203	4296	6499	SO:0001583	missense	0			-	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.323C>T	X.37:g.2209608G>A	ENSP00000334113:p.Ser108Phe		Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.S108F	ENST00000334651.5	37	c.323	CCDS35195.1	X	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342121	0.24339	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	T;T;T	0.27104	1.69;1.69;1.69	2.19	2.19	0.27852	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000004	T	0.58637	0.2136	H	0.94503	3.545	0.30843	N	0.735404	D	0.89917	1.0	D	0.91635	0.999	T	0.67488	-0.5658	10	0.87932	D	0	.	11.3818	0.49761	0.0:0.0:1.0:0.0	.	108	Q8N5I4	DHRSX_HUMAN	F	108;85;41	ENSP00000334113:S108F;ENSP00000391778:S85F;ENSP00000402741:S41F	ENSP00000334113:S108F	S	-	2	0	DHRSX	2219608	1.000000	0.71417	0.301000	0.25044	0.039000	0.13416	4.324000	0.59228	0.886000	0.36113	0.272000	0.19324	TCC	-	DHRSX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase		0.418	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRSX	HGNC	protein_coding	OTTHUMT00000055617.3	0	0	0	288	288	115	0.00	0.00	G	NM_145177		2209608	-1	138	42	145	42	tier1	no_errors	ENST00000334651	ensembl	human	known	74_37	missense	48.76	50.00	SNP	1.000	A	138	145
RPS7	6201	genome.wustl.edu	37	2	3624141	3624141	+	Missense_Mutation	SNP	C	C	G	rs138049462		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:3624141C>G	ENST00000304921.5	+	4	376	c.212C>G	c.(211-213)tCt>tGt	p.S71C	RPS7_ENST00000406376.1_Missense_Mutation_p.S71C|RPS7_ENST00000407445.3_Missense_Mutation_p.S71C|RPS7_ENST00000403564.1_Missense_Mutation_p.S71C	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	71					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CAACTGAAATCTTTCCAGAAA	0.413													ENSG00000171863																																					0													118.0	128.0	124.0					2																	3624141		2203	4293	6496	SO:0001583	missense	0			-		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.212C>G	2.37:g.3624141C>G	ENSP00000339095:p.Ser71Cys		P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP	pfam_Ribosomal_S7e	p.S71C	ENST00000304921.5	37	c.212	CCDS1648.1	2	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231548	0.58777	.	.	ENSG00000171863	ENST00000304921;ENST00000407445;ENST00000403564;ENST00000406376	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	U	0.000000	T	0.67748	0.2926	M	0.69248	2.105	0.58432	D	0.999998	B;B	0.19200	0.034;0.002	B;B	0.27262	0.078;0.03	T	0.70612	-0.4824	9	0.87932	D	0	.	15.8877	0.79264	0.0:1.0:0.0:0.0	.	71;71	B5MCP9;P62081	.;RS7_HUMAN	C	71	.	ENSP00000339095:S71C	S	+	2	0	RPS7	3602016	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.594000	0.82698	2.030000	0.59900	0.563000	0.77884	TCT	-	RPS7	-	pfam_Ribosomal_S7e		0.413	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS7	HGNC	protein_coding	OTTHUMT00000206667.1	0	0	0	152	152	30	0.00	0.00	C	NM_001011		3624141	+1	21	3	130	13	tier1	no_errors	ENST00000304921	ensembl	human	known	74_37	missense	13.91	18.75	SNP	1.000	G	21	130
SCN3A	6328	genome.wustl.edu	37	2	165949021	165949021	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:165949021C>T	ENST00000360093.3	-	27	5041	c.4550G>A	c.(4549-4551)gGa>gAa	p.G1517E	SCN3A_ENST00000409101.3_Missense_Mutation_p.G1468E|SCN3A_ENST00000465043.1_5'UTR|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1517E|SCN3A_ENST00000540861.1_5'UTR	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1517					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGACCATTCCTTGGAATTT	0.363													ENSG00000153253																																					0													92.0	82.0	86.0					2																	165949021		2203	4300	6503	SO:0001583	missense	0			-	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4550G>A	2.37:g.165949021C>T	ENSP00000353206:p.Gly1517Glu		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.G1517E	ENST00000360093.3	37	c.4550		2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725863	0.89298	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96011	-3.88;-3.88;-3.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.98197	0.9404	M	0.89214	3.015	0.80722	D	1	D;P;D	0.89917	1.0;0.801;1.0	D;P;D	0.97110	1.0;0.6;0.991	D	0.98364	1.0550	10	0.72032	D	0.01	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1468;1468;1517	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	E	1517;1517;1468	ENSP00000353206:G1517E;ENSP00000283254:G1517E;ENSP00000386726:G1468E	ENSP00000283254:G1517E	G	-	2	0	SCN3A	165657267	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.776000	0.85560	2.894000	0.99253	0.591000	0.81541	GGA	-	SCN3A	-	NULL		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		0	0	0	55	55	46	0.00	0.00	C	NM_006922		165949021	-1	11	12	19	18	tier1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	36.67	40.00	SNP	1.000	T	11	19
KIF1A	547	genome.wustl.edu	37	2	241728730	241728730	+	Splice_Site	SNP	C	C	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241728730C>G	ENST00000320389.7	-	3	265		c.e3-1		KIF1A_ENST00000498729.2_Splice_Site	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTAACAATGGCTGTGGGAGGG	0.597													ENSG00000130294																																					0													70.0	82.0	78.0					2																	241728730		2179	4290	6469	SO:0001630	splice_region_variant	0			-	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.107-1G>C	2.37:g.241728730C>G			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Splice_Site	SNP	-	e2-1	ENST00000320389.7	37	c.107-1	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630294	0.28978	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7642	0.78114	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF1A	241377403	1.000000	0.71417	0.992000	0.48379	0.078000	0.17371	7.623000	0.83113	1.996000	0.58369	0.462000	0.41574	.	-	KIF1A	-	-		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	0	0	0	124	124	160	0.00	0.00	C	NM_138483	Intron	241728730	-1	28	49	57	68	tier1	no_errors	ENST00000498729	ensembl	human	known	74_37	splice_site	32.56	41.53	SNP	1.000	G	28	57
TNR	7143	genome.wustl.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T	rs531733667		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532													ENSG00000116147																																					2	Substitution - Missense(2)	large_intestine(1)|breast(1)											215.0	181.0	193.0					1																	175331865		2203	4300	6503	SO:0001583	missense	0			-	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2788G>A	1.37:g.175331865C>T	ENSP00000356646:p.Glu930Lys		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E930K	ENST00000367674.2	37	c.2788	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717377	0.30413	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58210	0.35;0.35	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	L	0.31420	0.93	0.80722	D	1	P	0.44578	0.838	B	0.40534	0.332	T	0.21042	-1.0257	10	0.15066	T	0.55	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	930	Q92752	TENR_HUMAN	K	930;930;840	ENSP00000356646:E930K;ENSP00000263525:E930K	ENSP00000263525:E930K	E	-	1	0	TNR	173598488	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	6.819000	0.75262	2.625000	0.88918	0.650000	0.86243	GAA	-	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	1	1	1	109	109	89	0.91	1.11	C	NM_003285		175331865	-1	24	27	59	37	tier1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	28.92	42.19	SNP	1.000	T	24	59
DNAH5	1767	genome.wustl.edu	37	5	13735348	13735348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:13735348G>A	ENST00000265104.4	-	68	11757	c.11653C>T	c.(11653-11655)Cga>Tga	p.R3885*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3885					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACAGCCCTCGGGCAGCATAC	0.448									Kartagener syndrome				ENSG00000039139																																					0													118.0	104.0	108.0					5																	13735348		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11653C>T	5.37:g.13735348G>A	ENSP00000265104:p.Arg3885*		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	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.R3885*	ENST00000265104.4	37	c.11653	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	54	21.850854	0.99943	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.9	5.01	0.66863	.	0.065612	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9084	0.63850	0.0:0.0:0.7227:0.2773	.	.	.	.	X	3885	.	ENSP00000265104:R3885X	R	-	1	2	DNAH5	13788348	0.994000	0.37717	0.116000	0.21606	0.986000	0.74619	2.594000	0.46189	1.464000	0.47987	0.650000	0.86243	CGA	-	DH5	-	NULL		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH5	HGNC	protein_coding	OTTHUMT00000207057.2	0	0	0	76	76	140	0.00	0.00	G	NM_001369		13735348	-1	40	57	38	82	tier1	no_errors	ENST00000265104	ensembl	human	known	74_37	nonsense	51.28	41.01	SNP	0.937	A	40	38
ABCC12	94160	genome.wustl.edu	37	16	48173107	48173107	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:48173107C>T	ENST00000311303.3	-	5	1143	c.798G>A	c.(796-798)ggG>ggA	p.G266G	ABCC12_ENST00000448542.1_Silent_p.G266G|ABCC12_ENST00000416054.1_Silent_p.G266G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	266	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACACTGATATCCCGATGAGAG	0.483													ENSG00000140798																																					0													132.0	120.0	124.0					16																	48173107		2201	4300	6501	SO:0001819	synonymous_variant	0			-	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.798G>A	16.37:g.48173107C>T			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G266	ENST00000311303.3	37	c.798	CCDS10730.1	16																																																																																			-	ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom		0.483	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	0	0	0	93	93	134	0.00	0.00	C	NM_033226		48173107	-1	16	40	60	73	tier1	no_errors	ENST00000311303	ensembl	human	known	74_37	silent	21.05	35.40	SNP	0.967	T	16	60
SORL1	6653	genome.wustl.edu	37	11	121367755	121367755	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:121367755G>A	ENST00000260197.7	+	6	1065	c.936G>A	c.(934-936)gtG>gtA	p.V312V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	312					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTACAAAGGTGGTGGTAAGTT	0.398													ENSG00000137642																																					0													85.0	83.0	84.0					11																	121367755		2203	4299	6502	SO:0001819	synonymous_variant	0			-	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.936G>A	11.37:g.121367755G>A			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V312	ENST00000260197.7	37	c.936	CCDS8436.1	11																																																																																			-	SORL1	-	smart_VPS10		0.398	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	0	0	0	140	140	205	0.00	0.00	G	NM_003105		121367755	+1	55	66	55	73	tier1	no_errors	ENST00000260197	ensembl	human	known	74_37	silent	50.00	47.48	SNP	0.928	A	55	55
TMCO3	55002	genome.wustl.edu	37	13	114152660	114152660	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:114152660G>A	ENST00000434316.2	+	3	807	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E150K	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	150						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGAATAGGAAGAAACAGAATA	0.343													ENSG00000150403																																					0													65.0	69.0	68.0					13																	114152660		2203	4300	6503	SO:0001583	missense	0			-	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.448G>A	13.37:g.114152660G>A	ENSP00000389399:p.Glu150Lys		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.E150K	ENST00000434316.2	37	c.448	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631983	0.67015	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.35789	1.29	5.22	4.38	0.52667	.	0.098719	0.64402	D	0.000002	T	0.59321	0.2185	M	0.74258	2.255	0.53005	D	0.999968	D;D	0.89917	1.0;0.999	D;D	0.75484	0.982;0.986	T	0.64228	-0.6457	10	0.72032	D	0.01	-4.7227	13.7713	0.63026	0.0735:0.0:0.9265:0.0	.	150;150	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	K	150	ENSP00000389399:E150K	ENSP00000364540:E150K	E	+	1	0	TMCO3	113200661	1.000000	0.71417	0.071000	0.20095	0.324000	0.28378	9.409000	0.97331	1.230000	0.43646	0.555000	0.69702	GAA	-	TMCO3	-	NULL		0.343	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	0	0	0	138	138	122	0.00	0.00	G	NM_017905		114152660	+1	15	6	64	41	tier1	no_errors	ENST00000434316	ensembl	human	known	74_37	missense	18.99	12.77	SNP	1.000	A	15	64
CYP3A4	1576	genome.wustl.edu	37	7	99367474	99367474	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:99367474G>A	ENST00000336411.2	-	6	621	c.438C>T	c.(436-438)gtC>gtT	p.V146V	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	146					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CAATGATAGGGACCATCTAAG	0.488													ENSG00000160868																																					0													140.0	130.0	134.0					7																	99367474		2203	4297	6500	SO:0001819	synonymous_variant	0			-	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.438C>T	7.37:g.99367474G>A			P05184|Q16757|Q9UK50	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.V146	ENST00000336411.2	37	c.438	CCDS5674.1	7																																																																																			-	CYP3A4	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.488	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	HGNC	protein_coding	OTTHUMT00000345059.1	0	0	0	65	65	148	0.00	0.00	G			99367474	-1	9	40	29	73	tier1	no_errors	ENST00000336411	ensembl	human	known	74_37	silent	23.68	35.40	SNP	0.993	A	9	29
ENPP6	133121	genome.wustl.edu	37	4	185038021	185038021	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:185038021C>T	ENST00000296741.2	-	5	984	c.843G>A	c.(841-843)ggG>ggA	p.G281G		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	281					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CAGAGTGTTTCCCAGGGGCCG	0.557													ENSG00000164303																																					0													66.0	67.0	66.0					4																	185038021		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.843G>A	4.37:g.185038021C>T			Q4W5Q1|Q96M57	Silent	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G281	ENST00000296741.2	37	c.843	CCDS3834.1	4																																																																																			-	ENPP6	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.557	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1	0	0	0	47	47	65	0.00	0.00	C	NM_153343		185038021	-1	25	33	16	13	tier1	no_errors	ENST00000296741	ensembl	human	known	74_37	silent	59.52	71.74	SNP	0.949	T	25	16
F5	2153	genome.wustl.edu	37	1	169493088	169493088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:169493088C>T	ENST00000367797.3	-	20	6044	c.5843G>A	c.(5842-5844)tGg>tAg	p.W1948*	F5_ENST00000367796.3_Nonsense_Mutation_p.W1953*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1948	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCTACACTCCAAGCATTATA	0.328													ENSG00000198734																																					0													141.0	153.0	149.0					1																	169493088		2203	4300	6503	SO:0001587	stop_gained	0			-	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5843G>A	1.37:g.169493088C>T	ENSP00000356771:p.Trp1948*		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.W1948*	ENST00000367797.3	37	c.5843	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	48	14.023504	0.99775	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6027	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	X	1948;1953	.	ENSP00000356770:W1953X	W	-	2	0	F5	167759712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.987000	0.76206	2.746000	0.94184	0.655000	0.94253	TGG	-	F5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.328	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	0	0	0	78	78	167	0.00	0.00	C	NM_000130		169493088	-1	17	30	46	96	tier1	no_errors	ENST00000367797	ensembl	human	known	74_37	nonsense	26.98	23.81	SNP	1.000	T	17	46
ZNF221	7638	genome.wustl.edu	37	19	44470188	44470188	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:44470188C>T	ENST00000251269.5	+	6	862	c.534C>T	c.(532-534)tcC>tcT	p.S178S	ZNF221_ENST00000592350.1_Silent_p.S178S|ZNF221_ENST00000587682.1_Silent_p.S178S	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GTAAACAGTCCTTCAGTGATG	0.418													ENSG00000159905																																					0													137.0	120.0	126.0					19																	44470188		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.534C>T	19.37:g.44470188C>T			B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S178	ENST00000251269.5	37	c.534	CCDS12633.1	19																																																																																			-	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	0	0	0	55	55	100	0.00	0.00	C			44470188	+1	26	42	28	51	tier1	no_errors	ENST00000251269	ensembl	human	known	74_37	silent	48.15	45.16	SNP	0.003	T	26	28
NOS1	4842	genome.wustl.edu	37	12	117723054	117723054	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:117723054C>T	ENST00000338101.4	-	6	1378	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G	NOS1_ENST00000317775.6_Silent_p.G458G|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ACCTGAGGTTCCCTTTGTTGG	0.557													ENSG00000089250																									Esophageal Squamous(162;1748 2599 51982 52956)												0													89.0	94.0	92.0					12																	117723054		2104	4249	6353	SO:0001819	synonymous_variant	0			-		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1374G>A	12.37:g.117723054C>T				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.G458	ENST00000338101.4	37	c.1374	CCDS55890.1	12																																																																																			-	NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	0	0	0	36	36	87	0.00	0.00	C			117723054	-1	5	17	20	46	tier1	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	20.00	26.15	SNP	0.998	T	5	20
STAT1	6772	genome.wustl.edu	37	2	191845366	191845366	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:191845366G>A	ENST00000361099.3	-	19	1999	c.1612C>T	c.(1612-1614)Ccg>Tcg	p.P538S	STAT1_ENST00000392322.3_Missense_Mutation_p.P538S|STAT1_ENST00000392323.2_Missense_Mutation_p.P540S|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.P538S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	538					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTCGTCCACGGAATGAGACCA	0.438													ENSG00000115415																																					0													136.0	124.0	128.0					2																	191845366		2203	4300	6503	SO:0001583	missense	0			-		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1612C>T	2.37:g.191845366G>A	ENSP00000354394:p.Pro538Ser		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.P538S	ENST00000361099.3	37	c.1612	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	G	2.102	-0.405818	0.04832	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.13	5.13	0.70059	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	N	0.10645	0.015	0.80722	D	1	B;B	0.25441	0.126;0.005	B;B	0.23419	0.046;0.015	T	0.64659	-0.6355	10	0.02654	T	1	-22.3279	13.4309	0.61055	0.0751:0.0:0.9249:0.0	.	538;538	P42224-2;P42224	.;STAT1_HUMAN	S	538;538;538;540	ENSP00000354394:P538S;ENSP00000386244:P538S;ENSP00000376136:P538S;ENSP00000376137:P540S	ENSP00000354394:P538S	P	-	1	0	STAT1	191553611	1.000000	0.71417	0.924000	0.36721	0.272000	0.26649	6.383000	0.73172	2.824000	0.97209	0.655000	0.94253	CCG	-	STAT1	-	pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd		0.438	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	0	0	0	107	107	195	0.00	0.00	G	NM_007315		191845366	-1	16	22	74	102	tier1	no_errors	ENST00000361099	ensembl	human	known	74_37	missense	17.78	17.74	SNP	1.000	A	16	74
SYNM	23336	genome.wustl.edu	37	15	99672568	99672568	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:99672568G>A	ENST00000336292.6	+	5	4120	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1335	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCAACTGGGGGAATCTGGTGA	0.567													ENSG00000182253																									Pancreas(125;1071 1762 21750 40003 40381)												0													81.0	86.0	84.0					15																	99672568		2022	4183	6205	SO:0001583	missense	0			-	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4000G>A	15.37:g.99672568G>A	ENSP00000336775:p.Glu1334Lys		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_IF	p.E1334K	ENST00000336292.6	37	c.4000		15	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330173	0.41297	.	.	ENSG00000182253	ENST00000336292	D	0.82984	-1.67	5.52	3.63	0.41609	.	.	.	.	.	T	0.74764	0.3759	.	.	.	0.09310	N	0.999995	B	0.21071	0.051	B	0.16722	0.016	T	0.65672	-0.6111	8	0.87932	D	0	.	6.4112	0.21692	0.1494:0.0:0.703:0.1476	.	1335	O15061	SYNEM_HUMAN	K	1334	ENSP00000336775:E1334K	ENSP00000336775:E1334K	E	+	1	0	SYNM	97490091	0.010000	0.17322	0.002000	0.10522	0.014000	0.08584	1.816000	0.38992	0.667000	0.31107	0.655000	0.94253	GAA	-	SYNM	-	NULL		0.567	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	SYNM	HGNC	protein_coding		0	0	0	28	28	71	0.00	0.00	G	NM_145728		99672568	+1	8	12	25	33	tier1	no_errors	ENST00000336292	ensembl	human	known	74_37	missense	24.24	26.67	SNP	0.005	A	8	25
NUPL1	9818	genome.wustl.edu	37	13	25912826	25912826	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:25912826T>A	ENST00000381736.3	+	15	1837	c.1587T>A	c.(1585-1587)ttT>ttA	p.F529L	NUPL1_ENST00000381718.3_Missense_Mutation_p.F517L|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	529	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CCTCCACATTTGGATTTGGAA	0.393													ENSG00000139496																									Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													107.0	116.0	113.0					13																	25912826		2203	4300	6503	SO:0001583	missense	0			-	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1587T>A	13.37:g.25912826T>A	ENSP00000371155:p.Phe529Leu		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.F529L	ENST00000381736.3	37	c.1587	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390255	0.82902	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.36520	1.29;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.61697	0.99;0.99	D;D	0.72982	0.979;0.979	T	0.54430	-0.8295	10	0.37606	T	0.19	-16.0214	15.9341	0.79688	0.0:0.0:0.0:1.0	.	517;529	A6NI12;Q9BVL2	.;NUPL1_HUMAN	L	529;506;517	ENSP00000371155:F529L;ENSP00000371137:F517L	ENSP00000318459:F506L	F	+	3	2	NUPL1	24810826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.593000	0.46180	2.164000	0.68074	0.456000	0.33151	TTT	-	NUPL1	-	NULL		0.393	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	0	0	0	129	129	148	0.00	0.00	T			25912826	+1	35	48	64	97	tier1	no_errors	ENST00000381736	ensembl	human	known	74_37	missense	35.35	33.10	SNP	1.000	A	35	64
ABCG1	9619	genome.wustl.edu	37	21	43716300	43716300	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43716300C>T	ENST00000361802.2	+	15	1980	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Missense_Mutation_p.S602F|ABCG1_ENST00000343687.3_Missense_Mutation_p.S611F|ABCG1_ENST00000347800.2_Missense_Mutation_p.S597F|ABCG1_ENST00000340588.4_Missense_Mutation_p.S720F|ABCG1_ENST00000398449.3_Missense_Mutation_p.S600F|ABCG1_ENST00000398437.1_Missense_Mutation_p.S758F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	612	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTCATCCTCTCCATCTATGGC	0.577													ENSG00000160179																																					0													133.0	111.0	118.0					21																	43716300		2203	4300	6503	SO:0001583	missense	0			-	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1835C>T	21.37:g.43716300C>T	ENSP00000354995:p.Ser612Phe		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.S758F	ENST00000361802.2	37	c.2273	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562195	0.65538	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	D;D;D;D;D;D;D	0.86865	-2.07;-2.07;-2.07;-2.04;-2.07;-2.18;-2.16	4.94	4.05	0.47172	.	0.065450	0.64402	D	0.000007	D	0.92974	0.7764	M	0.85777	2.775	0.58432	D	0.999999	D;P;D;P;P;B	0.57257	0.978;0.886;0.979;0.808;0.946;0.112	D;P;P;P;P;B	0.65323	0.934;0.8;0.877;0.642;0.8;0.048	D	0.93312	0.6685	9	.	.	.	-44.8413	13.5368	0.61652	0.0:0.9247:0.0:0.0753	.	623;611;612;600;597;602	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	F	602;597;600;612;611;758;720	ENSP00000381475:S602F;ENSP00000291524:S597F;ENSP00000381467:S600F;ENSP00000354995:S612F;ENSP00000339744:S611F;ENSP00000381464:S758F;ENSP00000343820:S720F	.	S	+	2	0	ABCG1	42589369	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	7.496000	0.81526	1.210000	0.43336	0.655000	0.94253	TCC	-	ABCG1	-	tigrfam_Pigment_permease		0.577	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	0	0	0	88	88	93	0.00	0.00	C	NM_207174		43716300	+1	24	39	52	75	tier1	no_errors	ENST00000398437	ensembl	human	known	74_37	missense	31.58	34.21	SNP	1.000	T	24	52
KLK6	5653	genome.wustl.edu	37	19	51466875	51466875	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:51466875G>A	ENST00000376851.3	-	4	637				KLK6_ENST00000376853.4_Intron|KLK6_ENST00000391808.1_Intron|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000594641.1_Intron|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Intron|KLK6_ENST00000456750.2_5'Flank	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6						amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGAGGGCTGGGAAGTCATGAA	0.542													ENSG00000269495																																					0																																										SO:0001627	intron_variant	0			-	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.198-70C>T	19.37:g.51466875G>A			A6NJA1|A8MW09|Q6H301	R	SNP	-	NULL	ENST00000376851.3	37	NULL	CCDS12811.1	19																																																																																			-	CTB-147C22.8	-	-		0.542	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000269495	Clone_based_vega_gene	protein_coding	OTTHUMT00000465060.1	0	0	0	12	12	65	0.00	0.00	G	NM_002774		51466875	+1	9	28	16	42	tier1	no_errors	ENST00000601506	ensembl	human	known	74_37	rna	36.00	39.44	SNP	0.000	A	9	16
ZNF831	128611	genome.wustl.edu	37	20	57769470	57769470	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:57769470C>T	ENST00000371030.2	+	1	3396	c.3396C>T	c.(3394-3396)tcC>tcT	p.S1132S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1132							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCTGGCTCCTTCCTCACTG	0.687													ENSG00000124203																																					0													34.0	39.0	37.0					20																	57769470		1935	4126	6061	SO:0001819	synonymous_variant	0			-	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3396C>T	20.37:g.57769470C>T			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1132	ENST00000371030.2	37	c.3396	CCDS42894.1	20																																																																																			-	ZNF831	-	NULL		0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	0	0	0	44	44	52	0.00	0.00	C	NM_178457		57769470	+1	25	11	23	22	tier1	no_errors	ENST00000371030	ensembl	human	novel	74_37	silent	52.08	32.35	SNP	0.214	T	25	23
CLCNKB	1188	genome.wustl.edu	37	1	16376405	16376405	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16376405C>T	ENST00000375679.4	+	10	1073	c.962C>T	c.(961-963)gCc>gTc	p.A321V	CLCNKB_ENST00000375667.3_Missense_Mutation_p.A152V	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	321					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AAACTGCTGGCCACCAGGTAG	0.587													ENSG00000184908																																					0													112.0	105.0	108.0					1																	16376405		2203	4300	6503	SO:0001583	missense	0			-	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.962C>T	1.37:g.16376405C>T	ENSP00000364831:p.Ala321Val		B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.A321V	ENST00000375679.4	37	c.962	CCDS168.1	1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.038944	0.75617	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.92805	-3.11;-3.11	4.81	3.9	0.45041	Chloride channel, core (2);	0.261780	0.38605	N	0.001625	D	0.94076	0.8101	L	0.55103	1.725	0.46113	D	0.998872	D;D	0.76494	0.995;0.999	D;D	0.77557	0.965;0.99	D	0.93445	0.6797	10	0.52906	T	0.07	.	11.9489	0.52944	0.0:0.9161:0.0:0.0839	.	152;321	Q5T5Q7;P51801	.;CLCKB_HUMAN	V	321;152	ENSP00000364831:A321V;ENSP00000364819:A152V	ENSP00000364819:A152V	A	+	2	0	CLCNKB	16248992	0.954000	0.32549	0.999000	0.59377	0.594000	0.36715	1.987000	0.40687	1.027000	0.39758	0.561000	0.74099	GCC	-	CLCNKB	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core		0.587	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1	0	0	0	39	39	61	0.00	0.00	C	NM_000085		16376405	+1	6	13	24	59	tier1	no_errors	ENST00000375679	ensembl	human	known	74_37	missense	20.00	18.06	SNP	1.000	T	6	24
PABPC1	26986	genome.wustl.edu	37	8	101721932	101721932	+	Missense_Mutation	SNP	C	C	T	rs112966887		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:101721932C>T	ENST00000318607.5	-	8	2128	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.G289R|PABPC1_ENST00000522387.1_Missense_Mutation_p.G302R	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	334	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAACCAAACCCTTTGCTGCGA	0.378													ENSG00000070756																																					0													65.0	58.0	60.0					8																	101721932		2203	4300	6503	SO:0001583	missense	0			-	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1000G>A	8.37:g.101721932C>T	ENSP00000313007:p.Gly334Arg		Q15097|Q93004	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G334R	ENST00000318607.5	37	c.1000	CCDS6289.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.947690|4.947690	0.92593|0.92593	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519596	T;T;T|.	0.26373|.	1.74;1.74;1.74|.	4.92|4.92	4.92|4.92	0.64577|0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.64402|.	D|.	0.000009|.	D|D	0.83394|0.83394	0.5245|0.5245	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.81914|.	0.986;0.995;0.994|.	D|D	0.85988|0.85988	0.1487|0.1487	10|5	0.87932|.	D|.	0|.	.|.	18.4911|18.4911	0.90848|0.90848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302;334;334|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	R|K	334;334;289;302|166	ENSP00000313007:G334R;ENSP00000429594:G289R;ENSP00000429395:G302R|.	ENSP00000313007:G334R|.	G|R	-|-	1|2	0|0	PABPC1|PABPC1	101791108|101791108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.018000|6.018000	0.70811|0.70811	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GGG|AGG	-	PABPC1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.378	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1	0	0	0	70	70	51	0.00	0.00	C	NM_002568		101721932	-1	28	19	67	29	tier1	no_errors	ENST00000318607	ensembl	human	known	74_37	missense	29.47	39.58	SNP	1.000	T	28	67
TARS2	80222	genome.wustl.edu	37	1	150463910	150463910	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:150463910T>A	ENST00000369064.3	+	5	587	c.553T>A	c.(553-555)Tgc>Agc	p.C185S	TARS2_ENST00000369054.2_Missense_Mutation_p.C185S|TARS2_ENST00000438568.2_Nonsense_Mutation_p.L143*|TARS2_ENST00000606933.1_Missense_Mutation_p.C185S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	185					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGAGCGGATTTGCCAGGAACT	0.567													ENSG00000143374																																					0													103.0	98.0	100.0					1																	150463910		2203	4300	6503	SO:0001583	missense	0			-	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.553T>A	1.37:g.150463910T>A	ENSP00000358060:p.Cys185Ser		Q53GW7|Q96I50|Q9H9V2	Nonsense_Mutation	SNP	pfam_TGS,superfamily_TGS-like	p.L143*	ENST00000369064.3	37	c.428	CCDS952.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.8|27.8	4.860864|4.860864	0.91433|0.91433	.|.	.|.	ENSG00000143374|ENSG00000143374	ENST00000369054;ENST00000369064|ENST00000438568	T;T|.	0.06218|.	3.33;3.33|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.47229|.	0.1434|.	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	A|A	1|1	D;P|.	0.76494|.	0.999;0.577|.	D;B|.	0.80764|.	0.994;0.2|.	T|.	0.55379|.	-0.8150|.	9|.	0.22109|0.59425	T|D	0.4|0.04	-17.5991|-17.5991	11.6663|11.6663	0.51376|0.51376	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	185;185|.	Q9H9V2;Q9BW92|.	.;SYTM_HUMAN|.	S|X	185|143	ENSP00000358050:C185S;ENSP00000358060:C185S|.	ENSP00000358050:C185S|ENSP00000415002:L143X	C|L	+|+	1|2	0|0	TARS2|TARS2	148730534|148730534	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.810000|0.810000	0.45777|0.45777	4.209000|4.209000	0.58493|0.58493	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	TGC|TTG	-	TARS2	-	NULL		0.567	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	0	0	0	73	73	99	0.00	0.00	T	NM_025150		150463910	+1	32	26	19	70	tier1	no_errors	ENST00000438568	ensembl	human	known	74_37	nonsense	62.75	27.08	SNP	0.998	A	32	19
TRIM58	25893	genome.wustl.edu	37	1	248023942	248023942	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248023942A>G	ENST00000366481.3	+	2	492	c.444A>G	c.(442-444)gaA>gaG	p.E148E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	148						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGCTCTGGAACTTATGAGGA	0.478													ENSG00000162722																																					0													94.0	90.0	91.0					1																	248023942		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.444A>G	1.37:g.248023942A>G			Q6B0H9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E148	ENST00000366481.3	37	c.444	CCDS1636.1	1																																																																																			-	TRIM58	-	NULL		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	0	0	0	55	55	137	0.00	0.00	A	NM_015431		248023942	+1	12	13	43	72	tier1	no_errors	ENST00000366481	ensembl	human	known	74_37	silent	21.82	15.29	SNP	0.026	G	12	43
CHD2	1106	genome.wustl.edu	37	15	93528743	93528743	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:93528743A>G	ENST00000394196.4	+	26	4321	c.3253A>G	c.(3253-3255)Agt>Ggt	p.S1085G	CHD2_ENST00000557381.1_Missense_Mutation_p.S1085G	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1085					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAAATGACAGTGACTCTGA	0.473													ENSG00000173575																																					0													79.0	74.0	76.0					15																	93528743		2197	4298	6495	SO:0001583	missense	0			-	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3253A>G	15.37:g.93528743A>G	ENSP00000377747:p.Ser1085Gly		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1085G	ENST00000394196.4	37	c.3253	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688049	0.68271	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.79749	-1.3;-1.3	5.42	5.42	0.78866	.	0.000000	0.39985	U	0.001204	D	0.85544	0.5721	L	0.54323	1.7	0.80722	D	1	P;B	0.52842	0.956;0.009	D;B	0.65010	0.931;0.02	T	0.82506	-0.0423	10	0.19147	T	0.46	-15.4162	15.4644	0.75387	1.0:0.0:0.0:0.0	.	1085;1085	O14647;O14647-2	CHD2_HUMAN;.	G	1085	ENSP00000377747:S1085G;ENSP00000451366:S1085G	ENSP00000377747:S1085G	S	+	1	0	CHD2	91329747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	2.049000	0.60858	0.528000	0.53228	AGT	-	CHD2	-	NULL		0.473	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	0	0	0	57	57	62	0.00	0.00	A	NM_001271		93528743	+1	12	15	34	23	tier1	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	26.09	39.47	SNP	1.000	G	12	34
CYP2S1	29785	genome.wustl.edu	37	19	41704521	41704521	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41704521G>A	ENST00000310054.4	+	4	864	c.648G>A	c.(646-648)ggG>ggA	p.G216G	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	216					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GCTCCCAGGGGGGTCAGGTGA	0.617													ENSG00000167600																																					0													69.0	66.0	67.0					19																	41704521		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.648G>A	19.37:g.41704521G>A			Q9BZ66	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.G216	ENST00000310054.4	37	c.648	CCDS12573.1	19																																																																																			-	CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B		0.617	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	0	0	0	46	46	69	0.00	0.00	G			41704521	+1	30	33	19	37	tier1	no_errors	ENST00000310054	ensembl	human	known	74_37	silent	61.22	47.14	SNP	0.996	A	30	19
DCTN1	1639	genome.wustl.edu	37	2	74592276	74592276	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:74592276G>A	ENST00000361874.3	-	26	3439	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F	DCTN1_ENST00000409438.1_Missense_Mutation_p.S907F|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Missense_Mutation_p.S1004F|DCTN1_ENST00000409567.3_Missense_Mutation_p.S1021F|DCTN1_ENST00000407639.2_Missense_Mutation_p.S907F|DCTN1_ENST00000409868.1_Missense_Mutation_p.S1024F|DCTN1_ENST00000394003.3_Missense_Mutation_p.S1034F|RP11-287D1.3_ENST00000451608.2_5'Flank	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	1041					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CGTGCGTTTGGACTGGCTGTT	0.547													ENSG00000204843																																					0													148.0	132.0	137.0					2																	74592276		2203	4300	6503	SO:0001583	missense	0			-		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.3122C>T	2.37:g.74592276G>A	ENSP00000354791:p.Ser1041Phe		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.S1041F	ENST00000361874.3	37	c.3122	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802521	0.70682	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.33	5.33	0.75918	.	0.000000	0.42420	D	0.000707	D	0.86518	0.5952	M	0.63843	1.955	0.80722	D	1	D;D;P;D;D;D	0.89917	0.985;0.993;0.94;0.994;1.0;0.965	P;P;P;D;D;P	0.71414	0.862;0.907;0.543;0.928;0.973;0.648	D	0.87321	0.2318	10	0.87932	D	0	-6.6502	17.9526	0.89058	0.0:0.0:1.0:0.0	.	1021;1004;1041;1034;907;907	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	F	1041;1034;1024;907;907;1004;1024;1021	ENSP00000354791:S1041F;ENSP00000377571:S1034F;ENSP00000384844:S907F;ENSP00000387270:S907F;ENSP00000386406:S1004F;ENSP00000387327:S1024F;ENSP00000386843:S1021F	ENSP00000354791:S1041F	S	-	2	0	DCTN1	74445784	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	9.411000	0.97342	2.771000	0.95319	0.561000	0.74099	TCC	-	DCTN1	-	superfamily_P-loop_NTPase		0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	0	0	0	70	70	131	0.00	0.00	G	NM_004082		74592276	-1	22	48	40	61	tier1	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	35.48	44.04	SNP	1.000	A	22	40
HOXA5	3202	genome.wustl.edu	37	7	27181527	27181527	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:27181527C>T	ENST00000222726.3	-	2	800	c.740G>A	c.(739-741)aGa>aAa	p.R247K	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	247					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCACTTCATTCTCCGGTTTTG	0.473											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000106004																									Colon(119;75 2200 7557 42868)												0													121.0	120.0	120.0					7																	27181527		2203	4300	6503	SO:0001583	missense	0			-		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.740G>A	7.37:g.27181527C>T	ENSP00000222726:p.Arg247Lys	792	A4D179|O43367|Q96CY6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.R247K	ENST00000222726.3	37	c.740	CCDS5406.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389352	0.82902	.	.	ENSG00000106004	ENST00000222726	D	0.98862	-5.19	4.96	4.96	0.65561	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.99090	4.425	0.80722	D	1	D	0.67145	0.996	D	0.85130	0.997	D	0.97498	1.0058	10	0.87932	D	0	.	18.5631	0.91108	0.0:1.0:0.0:0.0	.	247	P20719	HXA5_HUMAN	K	247	ENSP00000222726:R247K	ENSP00000222726:R247K	R	-	2	0	HOXA5	27148052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.471000	0.83476	0.543000	0.68304	AGA	-	HOXA5	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa		0.473	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA5	HGNC	protein_coding	OTTHUMT00000358705.1	0	0	0	54	54	107	0.00	0.00	C			27181527	-1	11	11	51	76	tier1	no_errors	ENST00000222726	ensembl	human	known	74_37	missense	17.74	12.64	SNP	1.000	T	11	51
PLCB3	5331	genome.wustl.edu	37	11	64030237	64030237	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64030237C>T	ENST00000540288.1	+	19	2415	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	PLCB3_ENST00000325234.5_Missense_Mutation_p.S704L|PLCB3_ENST00000279230.6_Missense_Mutation_p.S771L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	771	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGGGGAACTCGTTCAACCCC	0.652													ENSG00000149782																																					0													125.0	116.0	119.0					11																	64030237		2201	4297	6498	SO:0001583	missense	0			-	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2312C>T	11.37:g.64030237C>T	ENSP00000443631:p.Ser771Leu		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S771L	ENST00000540288.1	37	c.2312	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784689	0.90282	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.15603	2.41;2.41;2.41	5.21	5.21	0.72293	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.11641	-1.0579	10	0.87932	D	0	.	17.5322	0.87818	0.0:1.0:0.0:0.0	.	704;771	G5E960;Q01970	.;PLCB3_HUMAN	L	771;771;704	ENSP00000279230:S771L;ENSP00000443631:S771L;ENSP00000324660:S704L	ENSP00000279230:S771L	S	+	2	0	PLCB3	63786813	1.000000	0.71417	0.975000	0.42487	0.490000	0.33462	7.773000	0.85462	2.437000	0.82529	0.591000	0.81541	TCG	-	PLCB3	-	pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	0	0	0	70	70	84	0.00	0.00	C			64030237	+1	6	11	51	72	tier1	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	10.53	13.25	SNP	1.000	T	6	51
OR14K1	343170	genome.wustl.edu	37	1	247902365	247902365	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:247902365G>A	ENST00000283225.2	+	1	449	c.449G>A	c.(448-450)aGa>aAa	p.R150K	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGGCTCAACAGAGGGGCCTTG	0.527													ENSG00000153230																																					2	Substitution - Missense(2)	lung(2)											85.0	90.0	88.0					1																	247902365		2127	4251	6378	SO:0001583	missense	0			-	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.449G>A	1.37:g.247902365G>A	ENSP00000283225:p.Arg150Lys		A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R150K	ENST00000283225.2	37	c.449		1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942711	0.34283	.	.	ENSG00000153230	ENST00000283225	T	0.37058	1.22	3.81	2.89	0.33648	.	0.183568	0.25299	U	0.031679	T	0.35770	0.0943	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25082	-1.0142	7	0.87932	D	0	.	5.7451	0.18116	0.1058:0.0:0.7036:0.1906	.	.	.	.	K	150	ENSP00000283225:R150K	ENSP00000283225:R150K	R	+	2	0	OR14K1	245968988	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.773000	0.04689	0.773000	0.33404	0.543000	0.68304	AGA	-	OR14K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.527	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	OR14K1	HGNC	protein_coding	OTTHUMT00000096868.1	0	0	0	24	24	57	0.00	0.00	G	NM_001004732		247902365	+1	9	10	10	29	tier1	no_errors	ENST00000283225	ensembl	human	known	74_37	missense	47.37	25.64	SNP	0.003	A	9	10
KRTAP13-4	284827	genome.wustl.edu	37	21	31802671	31802671	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:31802671C>T	ENST00000334068.2	+	1	100	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	26						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GCTCCTACCCCAGCAGCCTGG	0.592													ENSG00000186971																									NSCLC(196;2401 3038 18004 35753)												0													88.0	90.0	89.0					21																	31802671		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.78C>T	21.37:g.31802671C>T			A2RRL3	Silent	SNP	pfam_KRTAP_PMG	p.P26	ENST00000334068.2	37	c.78	CCDS13592.1	21																																																																																			-	KRTAP13-4	-	pfam_KRTAP_PMG		0.592	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-4	HGNC	protein_coding	OTTHUMT00000128222.1	0	0	0	70	70	54	0.00	0.00	C			31802671	+1	15	17	39	44	tier1	no_errors	ENST00000334068	ensembl	human	known	74_37	silent	27.78	27.87	SNP	0.992	T	15	39
SLC5A6	8884	genome.wustl.edu	37	2	27428924	27428924	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:27428924C>T	ENST00000310574.3	-	6	1022	c.549G>A	c.(547-549)ctG>ctA	p.L183L	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.L183L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	183					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGACAATGCCCAGGGCCAGCA	0.547													ENSG00000138074																																					0													99.0	88.0	92.0					2																	27428924		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.549G>A	2.37:g.27428924C>T			B2RB85|D6W549|Q969Y5	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L183	ENST00000310574.3	37	c.549	CCDS1740.1	2																																																																																			-	SLC5A6	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.547	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	0	0	0	38	38	81	0.00	0.00	C	NM_021095		27428924	-1	24	40	24	42	tier1	no_errors	ENST00000310574	ensembl	human	known	74_37	silent	50.00	48.78	SNP	0.704	T	24	24
RNH1	6050	genome.wustl.edu	37	11	494993	494993	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:494993G>A	ENST00000534797.1	-	8	2595	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	RNH1_ENST00000354420.2_Silent_p.A396A|RNH1_ENST00000397615.2_Silent_p.A396A|RNH1_ENST00000356187.5_Silent_p.A396A|RNH1_ENST00000533410.1_Silent_p.A396A|RNH1_ENST00000438658.2_Silent_p.A396A|RNH1_ENST00000397604.3_Silent_p.A396A|RNH1_ENST00000397614.1_Silent_p.A396A			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGTGGTTGGCCAACAGGG	0.697													ENSG00000023191																																					0													23.0	24.0	23.0					11																	494993		2197	4298	6495	SO:0001819	synonymous_variant	0			-		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1188C>T	11.37:g.494993G>A			B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.A396	ENST00000534797.1	37	c.1188	CCDS7697.1	11																																																																																			-	RNH1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.697	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1	0	0	0	62	62	18	0.00	0.00	G	NM_203389		494993	-1	30	8	34	10	tier1	no_errors	ENST00000354420	ensembl	human	known	74_37	silent	46.88	44.44	SNP	0.183	A	30	34
ATP2B4	493	genome.wustl.edu	37	1	203677214	203677214	+	Silent	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:203677214T>C	ENST00000357681.5	+	10	2662	c.1539T>C	c.(1537-1539)gcT>gcC	p.A513A	ATP2B4_ENST00000367218.3_Silent_p.A513A|ATP2B4_ENST00000367219.3_Silent_p.A501A|ATP2B4_ENST00000391954.2_Silent_p.A513A|ATP2B4_ENST00000341360.2_Silent_p.A513A	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	513					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAACAGTGCTTATACCTCCA	0.453													ENSG00000058668																																					0													231.0	210.0	217.0					1																	203677214		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1539T>C	1.37:g.203677214T>C			B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.A513	ENST00000357681.5	37	c.1539	CCDS1440.1	1																																																																																			-	ATP2B4	-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma		0.453	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	0	0	0	52	52	126	0.00	0.00	T	NM_001001396		203677214	+1	33	37	35	79	tier1	no_errors	ENST00000357681	ensembl	human	known	74_37	silent	48.53	31.90	SNP	1.000	C	33	35
TTN	7273	genome.wustl.edu	37	2	179500409	179500409	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179500409C>T	ENST00000591111.1	-	177	36943	c.36719G>A	c.(36718-36720)cGa>cAa	p.R12240Q	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5008Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R13881Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11313Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4941Q|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4816Q			Q8WZ42	TITIN_HUMAN	titin	12240	Ig-like 82.				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)			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)			ATGCTGGTCTCGTATAGGTTT	0.358													ENSG00000155657																																					0													47.0	42.0	43.0					2																	179500409		1822	4083	5905	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.36719G>A	2.37:g.179500409C>T	ENSP00000465570:p.Arg12240Gln		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.R11313Q	ENST00000591111.1	37	c.33938		2	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859474	0.51376	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	6.05	6.05	0.98169	Immunoglobulin subtype (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58466	0.2124	M	0.63428	1.95	0.40586	D	0.981443	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;P	0.54346	0.54;0.54;0.54;0.749	T	0.60073	-0.7334	9	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	4816;4941;5008;12240	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	11313;4816;5008;4941;4816	ENSP00000343764:R11313Q;ENSP00000434586:R4816Q;ENSP00000340554:R5008Q;ENSP00000352154:R4941Q	ENSP00000340554:R5008Q	R	-	2	0	TTN	179208654	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.646000	0.61411	2.878000	0.98634	0.650000	0.86243	CGA	-	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	53	53	111	0.00	0.00	C	NM_133378		179500409	-1	20	49	35	58	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	36.36	45.37	SNP	1.000	T	20	35
XIST	7503	genome.wustl.edu	37	X	73063933	73063933	+	lincRNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:73063933G>A	ENST00000429829.1	-	0	8655					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACCCACTATTGAAAAGAGGTG	0.433													ENSG00000229807																																					0													126.0	116.0	119.0					X																	73063933		876	1991	2867			0			-	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063933G>A				R	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			-	XIST	-	-		0.433	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	0	0	0	79	79	82	0.00	0.00	G	NR_001564		73063933	-1	67	47	15	14	tier1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	81.71	77.05	SNP	0.008	A	67	15
HSPA14	51182	genome.wustl.edu	37	10	14884575	14884575	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:14884575C>T	ENST00000378372.3	+	3	460				HSPA14_ENST00000493863.1_3'UTR|HSPA14_ENST00000437161.2_Intron	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TACGTTGGATCAGCTTCTCCG	0.468													ENSG00000187522																																					0																																										SO:0001627	intron_variant	0			-	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.221+2419C>T	10.37:g.14884575C>T			A8K8F8|B0YIY9|Q9P0X2|Q9UI07	R	SNP	-	NULL	ENST00000378372.3	37	NULL	CCDS7103.1	10																																																																																			-	HSPA14	-	-		0.468	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	HGNC	protein_coding	OTTHUMT00000046910.1	0	0	0	43	43	93	0.00	0.00	C	NM_016299		14884575	+1	7	10	41	88	tier1	no_errors	ENST00000493863	ensembl	human	known	74_37	rna	14.58	10.20	SNP	1.000	T	7	41
ILDR1	286676	genome.wustl.edu	37	3	121712771	121712771	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121712771G>A	ENST00000344209.5	-	7	951	c.825C>T	c.(823-825)acC>acT	p.T275T	ILDR1_ENST00000273691.3_Silent_p.T231T|ILDR1_ENST00000462014.1_Silent_p.T243T|ILDR1_ENST00000393631.1_Silent_p.T186T|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	275					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTGATTGGTGGTCTGGGTCA	0.542													ENSG00000145103																																					0													61.0	59.0	59.0					3																	121712771		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.825C>T	3.37:g.121712771G>A			Q6ZP61|Q7Z578	Silent	SNP	pfam_LISCH7,smart_Ig_sub	p.T275	ENST00000344209.5	37	c.825	CCDS56271.1	3																																																																																			-	ILDR1	-	NULL		0.542	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	0	0	0	29	29	146	0.00	0.00	G	NM_175924		121712771	-1	9	53	24	82	tier1	no_errors	ENST00000344209	ensembl	human	known	74_37	silent	27.27	39.26	SNP	0.000	A	9	24
ATRNL1	26033	genome.wustl.edu	37	10	117228698	117228698	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:117228698G>A	ENST00000355044.3	+	24	3639	c.3513G>A	c.(3511-3513)ggG>ggA	p.G1171G	ATRNL1_ENST00000423111.2_Silent_p.G222G|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1171					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAATATCTGGGGAAGAGACTT	0.229													ENSG00000107518																																					0													22.0	24.0	24.0					10																	117228698		2131	4229	6360	SO:0001819	synonymous_variant	0			-	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3513G>A	10.37:g.117228698G>A			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.G1171	ENST00000355044.3	37	c.3513	CCDS7592.1	10																																																																																			-	ATRNL1	-	NULL		0.229	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	0	0	0	101	101	30	0.00	0.00	G	XM_049349		117228698	+1	39	23	22	13	tier1	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	63.93	63.89	SNP	0.767	A	39	22
PPIB	5479	genome.wustl.edu	37	15	64452346	64452346	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:64452346G>A	ENST00000300026.3	-	3	518	c.300C>T	c.(298-300)ttC>ttT	p.F100F	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	100	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CCTGGATCATGAAGTCCTTGA	0.512													ENSG00000166794																									GBM(105;399 1481 32889 33051 36637)												0													203.0	159.0	174.0					15																	64452346		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.300C>T	15.37:g.64452346G>A			A8K534|Q6IBH5|Q9BVK5	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.F100	ENST00000300026.3	37	c.300	CCDS10191.1	15																																																																																			-	PPIB	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.512	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	0	0	0	94	94	135	0.00	0.00	G			64452346	-1	21	37	54	84	tier1	no_errors	ENST00000300026	ensembl	human	known	74_37	silent	28.00	30.58	SNP	1.000	A	21	54
SDPR	8436	genome.wustl.edu	37	2	192700931	192700931	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:192700931G>A	ENST00000304141.4	-	2	1325	c.996C>T	c.(994-996)tcC>tcT	p.S332S		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CCTCTGCAAAGGACTCCTCTT	0.557													ENSG00000168497																																					0													103.0	104.0	104.0					2																	192700931		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.996C>T	2.37:g.192700931G>A				Silent	SNP	NULL	p.S332	ENST00000304141.4	37	c.996	CCDS2313.1	2																																																																																			-	SDPR	-	NULL		0.557	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	0	0	0	17	17	78	0.00	0.00	G	NM_004657		192700931	-1	4	26	14	17	tier1	no_errors	ENST00000304141	ensembl	human	known	74_37	silent	22.22	60.47	SNP	0.011	A	4	14
DAGLA	747	genome.wustl.edu	37	11	61490358	61490358	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:61490358C>T	ENST00000257215.5	+	4	451	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	112					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCATCTACGCCATCGTGGGC	0.602													ENSG00000134780																																					0													252.0	165.0	195.0					11																	61490358		2202	4299	6501	SO:0001583	missense	0			-	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.335C>T	11.37:g.61490358C>T	ENSP00000257215:p.Ala112Val		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.A112V	ENST00000257215.5	37	c.335	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950874	0.92660	.	.	ENSG00000134780	ENST00000257215	T	0.25912	1.77	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.25606	-1.0127	10	0.33940	T	0.23	-34.7652	18.3372	0.90293	0.0:1.0:0.0:0.0	.	112	Q9Y4D2	DGLA_HUMAN	V	112	ENSP00000257215:A112V	ENSP00000257215:A112V	A	+	2	0	DAGLA	61246934	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.069000	0.76755	2.421000	0.82119	0.561000	0.74099	GCC	-	DAGLA	-	NULL		0.602	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	0	0	0	28	28	83	0.00	0.00	C	NM_006133		61490358	+1	14	54	11	35	tier1	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	56.00	60.67	SNP	1.000	T	14	11
TSGA10	80705	genome.wustl.edu	37	2	99634676	99634676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:99634676G>A	ENST00000393483.3	-	20	2903	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R687*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R687*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R687*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	687	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTAATGATCGATCTAGGCCT	0.378													ENSG00000135951																																					0													106.0	100.0	102.0					2																	99634676		2203	4300	6503	SO:0001587	stop_gained	0			-	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.2059C>T	2.37:g.99634676G>A	ENSP00000377123:p.Arg687*		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	NULL	p.R687*	ENST00000393483.3	37	c.2059	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.231630	0.99108	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	.	.	.	5.04	4.1	0.47936	.	0.345645	0.24361	N	0.039184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.96	10.6946	0.45892	0.0:0.0:0.6922:0.3078	.	.	.	.	X	687;687;687;687;617;687	.	ENSP00000347161:R687X	R	-	1	2	TSGA10	99001108	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.304000	0.33482	2.774000	0.95407	0.655000	0.94253	CGA	-	TSGA10	-	NULL		0.378	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	0	0	0	87	87	91	0.00	0.00	G	NM_182911		99634676	-1	46	41	36	40	tier1	no_errors	ENST00000355053	ensembl	human	known	74_37	nonsense	56.10	50.62	SNP	1.000	A	46	36
SMTN	6525	genome.wustl.edu	37	22	31493284	31493284	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:31493284A>T	ENST00000347557.2	+	16	2337	c.2119A>T	c.(2119-2121)Aag>Tag	p.K707*	SMTN_ENST00000404574.1_Nonsense_Mutation_p.K230*|SMTN_ENST00000358743.1_Nonsense_Mutation_p.K707*|SMTN_ENST00000333137.7_Nonsense_Mutation_p.K707*	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	707					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GATGCAAACCAAGACCTTCTC	0.572													ENSG00000183963																																					0													151.0	137.0	142.0					22																	31493284		2203	4300	6503	SO:0001587	stop_gained	0			-	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2119A>T	22.37:g.31493284A>T	ENSP00000328635:p.Lys707*		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Nonsense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K707*	ENST00000347557.2	37	c.2119	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163997	0.78339	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	.	.	.	3.92	3.92	0.45320	.	0.494765	0.15465	N	0.260919	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0705	12.0765	0.53647	1.0:0.0:0.0:0.0	.	.	.	.	X	707;707;707;705;730;108;230;87	.	ENSP00000329393:K705X	K	+	1	0	SMTN	29823284	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.074000	0.57577	1.739000	0.51704	0.329000	0.21502	AAG	-	SMTN	-	NULL		0.572	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	0	0	0	26	26	80	0.00	0.00	A	NM_134270		31493284	+1	12	22	16	65	tier1	no_errors	ENST00000347557	ensembl	human	known	74_37	nonsense	42.86	25.29	SNP	1.000	T	12	16
TTN	7273	genome.wustl.edu	37	2	179477781	179477781	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179477781C>T	ENST00000591111.1	-	215	44968	c.44744G>A	c.(44743-44745)gGa>gAa	p.G14915E	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7683E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G16556E|TTN_ENST00000342992.6_Missense_Mutation_p.G13988E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7616E|TTN_ENST00000460472.2_Missense_Mutation_p.G7491E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14915	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)			AGTTGGTTTTCCAGGGGGCCA	0.363													ENSG00000155657																																					0													76.0	77.0	76.0					2																	179477781		1884	4119	6003	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.44744G>A	2.37:g.179477781C>T	ENSP00000465570:p.Gly14915Glu		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.G13988E	ENST00000591111.1	37	c.41963		2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301015	0.60195	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72358	0.3450	M	0.64260	1.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.73553	-0.3946	9	0.87932	D	0	.	19.8689	0.96843	0.0:1.0:0.0:0.0	.	7491;7616;7683;14915	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	13988;7491;7683;7616;7491	ENSP00000343764:G13988E;ENSP00000434586:G7491E;ENSP00000340554:G7683E;ENSP00000352154:G7616E	ENSP00000340554:G7683E	G	-	2	0	TTN	179186026	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.770000	0.85390	2.695000	0.91970	0.557000	0.71058	GGA	-	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	1	58	58	147	0.00	0.68	C	NM_133378		179477781	-1	16	36	37	99	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	30.19	26.67	SNP	1.000	T	16	37
MYF5	4617	genome.wustl.edu	37	12	81111151	81111151	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:81111151C>T	ENST00000228644.3	+	1	461	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	103	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ACCAGGCTTTCGAAACCCTCA	0.602													ENSG00000111049																																					0													65.0	59.0	61.0					12																	81111151		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.309C>T	12.37:g.81111151C>T			Q6ISR9	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.F103	ENST00000228644.3	37	c.309	CCDS9020.1	12																																																																																			-	MYF5	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.602	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	0	0	0	101	101	114	0.00	0.00	C	NM_005593		81111151	+1	21	31	68	51	tier1	no_errors	ENST00000228644	ensembl	human	known	74_37	silent	23.60	37.80	SNP	0.994	T	21	68
ITGA2	3673	genome.wustl.edu	37	5	52340882	52340882	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:52340882G>A	ENST00000296585.5	+	4	490	c.347G>A	c.(346-348)gGc>gAc	p.G116D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	116					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGAGCCTCGGCTTGATCCTC	0.368													ENSG00000164171																																					0													106.0	99.0	101.0					5																	52340882		2203	4300	6503	SO:0001583	missense	0			-		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.347G>A	5.37:g.52340882G>A	ENSP00000296585:p.Gly116Asp		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G116D	ENST00000296585.5	37	c.347	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509618	0.85282	.	.	ENSG00000164171	ENST00000296585	D	0.94138	-3.36	5.54	5.54	0.83059	.	0.052681	0.85682	D	0.000000	D	0.97337	0.9129	M	0.89904	3.07	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.977	D	0.97794	1.0240	10	0.87932	D	0	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	116;116	E7ESP4;P17301	.;ITA2_HUMAN	D	116	ENSP00000296585:G116D	ENSP00000296585:G116D	G	+	2	0	ITGA2	52376639	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.783000	0.75078	2.779000	0.95612	0.655000	0.94253	GGC	-	ITGA2	-	NULL		0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	0	0	0	63	63	123	0.00	0.00	G	NM_002203		52340882	+1	22	34	22	29	tier1	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	50.00	53.97	SNP	1.000	A	22	22
MSTN	2660	genome.wustl.edu	37	2	190925009	190925009	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:190925009G>A	ENST00000260950.4	-	2	658	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	176					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GGTTTGATGAGTCTCAGGATT	0.408													ENSG00000138379																																					0													174.0	164.0	167.0					2																	190925009		2203	4300	6503	SO:0001583	missense	0			-	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.526C>T	2.37:g.190925009G>A	ENSP00000260950:p.Leu176Phe		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L176F	ENST00000260950.4	37	c.526	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211102	0.79240	.	.	ENSG00000138379	ENST00000260950	T	0.68181	-0.31	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.066080	0.64402	D	0.000008	T	0.82217	0.4989	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.82900	-0.0228	10	0.72032	D	0.01	-9.9605	19.9636	0.97259	0.0:0.0:1.0:0.0	.	176	O14793	GDF8_HUMAN	F	176	ENSP00000260950:L176F	ENSP00000260950:L176F	L	-	1	0	MSTN	190633254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.751000	0.74893	2.718000	0.92993	0.650000	0.86243	CTC	-	MSTN	-	pfam_TGF-b_N		0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2	0	0	0	89	89	164	0.00	0.00	G	NM_005259		190925009	-1	16	24	54	83	tier1	no_errors	ENST00000260950	ensembl	human	known	74_37	missense	22.86	22.43	SNP	1.000	A	16	54
TSHZ2	128553	genome.wustl.edu	37	20	51870918	51870918	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:51870918G>A	ENST00000371497.5	+	2	1808	c.921G>A	c.(919-921)gaG>gaA	p.E307E	TSHZ2_ENST00000329613.6_Silent_p.E304E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.E304E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	307					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTTGAAGGAGCCAGTCCCAA	0.448													ENSG00000182463																																					0													66.0	69.0	68.0					20																	51870918		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.921G>A	20.37:g.51870918G>A			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.E307	ENST00000371497.5	37	c.921	CCDS33490.1	20																																																																																			-	TSHZ2	-	NULL		0.448	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	0	0	0	194	194	135	0.00	0.00	G	NM_173485		51870918	+1	63	43	134	106	tier1	no_errors	ENST00000371497	ensembl	human	known	74_37	silent	31.98	28.86	SNP	1.000	A	63	134
VWA3B	200403	genome.wustl.edu	37	2	98809377	98809377	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:98809377G>A	ENST00000477737.1	+	11	1687	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	VWA3B_ENST00000451075.2_Missense_Mutation_p.D345N|VWA3B_ENST00000435344.1_Missense_Mutation_p.D495N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	495										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGGCTACAGGATGGGAGTCA	0.448													ENSG00000168658																																					0													124.0	117.0	119.0					2																	98809377		1926	4142	6068	SO:0001583	missense	0			-	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1483G>A	2.37:g.98809377G>A	ENSP00000417955:p.Asp495Asn		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D495N	ENST00000477737.1	37	c.1483	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	9.718	1.158783	0.21454	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.21734	1.99;3.45;2.57	5.68	-0.724	0.11177	.	0.759465	0.12079	N	0.501512	T	0.11537	0.0281	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.09377	0.002;0.004;0.004;0.001	T	0.30966	-0.9960	10	0.26408	T	0.33	.	5.2969	0.15756	0.4937:0.2674:0.2388:0.0	.	345;495;495;495	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	N	495;495;345	ENSP00000401959:D495N;ENSP00000417955:D495N;ENSP00000389463:D345N	ENSP00000388158:D495N	D	+	1	0	VWA3B	98175809	0.105000	0.21958	0.109000	0.21407	0.943000	0.58893	0.335000	0.19806	0.162000	0.19483	0.650000	0.86243	GAT	-	VWA3B	-	NULL		0.448	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	0	0	0	49	49	88	0.00	0.00	G	NM_144992		98809377	+1	13	10	45	59	tier1	no_errors	ENST00000477737	ensembl	human	known	74_37	missense	22.41	14.49	SNP	0.059	A	13	45
TRPC6	7225	genome.wustl.edu	37	11	101362323	101362323	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:101362323G>A	ENST00000344327.3	-	3	1516	c.1092C>T	c.(1090-1092)agC>agT	p.S364S	TRPC6_ENST00000360497.4_Silent_p.S364S|TRPC6_ENST00000532133.1_Silent_p.S364S|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	364					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTTTAAACGGCTGAGATTTG	0.423													ENSG00000137672																									Colon(166;1315 1927 11094 12848 34731)												0													133.0	138.0	136.0					11																	101362323		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1092C>T	11.37:g.101362323G>A			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.S364	ENST00000344327.3	37	c.1092	CCDS8311.1	11																																																																																			-	TRPC6	-	tigrfam_TRP_channel		0.423	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	0	0	0	58	58	94	0.00	0.00	G	NM_004621		101362323	-1	31	31	20	19	tier1	no_errors	ENST00000344327	ensembl	human	known	74_37	silent	60.78	62.00	SNP	1.000	A	31	20
DOCK3	1795	genome.wustl.edu	37	3	51273845	51273845	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:51273845G>A	ENST00000266037.9	+	20	2010	c.1987G>A	c.(1987-1989)Gtt>Att	p.V663I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	663					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CGGCCTGTTGGTTTTTCAGTC	0.353													ENSG00000088538																																					0													211.0	196.0	201.0					3																	51273845		1846	4086	5932	SO:0001583	missense	0			-	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1987G>A	3.37:g.51273845G>A	ENSP00000266037:p.Val663Ile		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.V663I	ENST00000266037.9	37	c.1987	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.069523	0.93950	.	.	ENSG00000088538	ENST00000266037	T	0.24350	1.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63812	-0.6552	10	0.45353	T	0.12	.	19.2175	0.93783	0.0:0.0:1.0:0.0	.	663	Q8IZD9	DOCK3_HUMAN	I	663	ENSP00000266037:V663I	ENSP00000266037:V663I	V	+	1	0	DOCK3	51248885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.809000	0.99208	2.608000	0.88229	0.655000	0.94253	GTT	-	DOCK3	-	superfamily_ARM-type_fold		0.353	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	0	0	0	143	143	134	0.00	0.00	G	NM_004947		51273845	+1	44	52	79	89	tier1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	35.77	36.88	SNP	1.000	A	44	79
ZCCHC8	55596	genome.wustl.edu	37	12	122958192	122958192	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:122958192G>A	ENST00000336229.4	-	14	2106	c.1976C>T	c.(1975-1977)cCt>cTt	p.P659L	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P421L|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P270L|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P421L	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	659					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GTCAGGTATAGGGCTATGAAT	0.448													ENSG00000033030																																					0													175.0	171.0	172.0					12																	122958192		1886	4118	6004	SO:0001583	missense	0			-	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1976C>T	12.37:g.122958192G>A	ENSP00000337313:p.Pro659Leu		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.P659L	ENST00000336229.4	37	c.1976		12	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465098	0.43839	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.45276	0.92;0.92;0.9;0.92	5.88	5.0	0.66597	.	0.162925	0.56097	D	0.000033	T	0.39937	0.1097	M	0.68952	2.095	0.21416	N	0.999696	B	0.11235	0.004	B	0.08055	0.003	T	0.26155	-1.0111	10	0.24483	T	0.36	-10.1672	11.2296	0.48903	0.145:0.0:0.855:0.0	.	659	Q6NZY4	ZCHC8_HUMAN	L	421;421;659;270	ENSP00000441423:P421L;ENSP00000438993:P421L;ENSP00000337313:P659L;ENSP00000440028:P270L	ENSP00000337313:P659L	P	-	2	0	ZCCHC8	121524145	0.994000	0.37717	0.016000	0.15963	0.137000	0.21094	3.581000	0.53914	1.496000	0.48567	0.650000	0.86243	CCT	-	ZCCHC8	-	NULL		0.448	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		0	0	1	82	82	151	0.00	0.65	G	NM_017612		122958192	-1	27	30	45	65	tier1	no_errors	ENST00000336229	ensembl	human	known	74_37	missense	37.50	31.58	SNP	0.132	A	27	45
CECR2	27443	genome.wustl.edu	37	22	18016892	18016892	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:18016892C>T	ENST00000400585.2	+	10	1158	c.720C>T	c.(718-720)ccC>ccT	p.P240P	CECR2_ENST00000400573.5_Silent_p.P381P|CECR2_ENST00000262608.8_Silent_p.P382P|CECR2_ENST00000342247.5_Silent_p.P353P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	423					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAATTCCCCCATGAGAGAGG	0.483													ENSG00000099954																																					0													96.0	98.0	97.0					22																	18016892		1869	4106	5975	SO:0001819	synonymous_variant	0			-	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.720C>T	22.37:g.18016892C>T			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P381	ENST00000400585.2	37	c.1143		22																																																																																			-	CECR2	-	superfamily_Bromodomain		0.483	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	0	0	0	151	151	155	0.00	0.00	C	NM_031413		18016892	+1	37	47	113	100	tier1	no_errors	ENST00000400573	ensembl	human	novel	74_37	silent	24.67	31.97	SNP	0.003	T	37	113
RING1	6015	genome.wustl.edu	37	6	33177437	33177437	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:33177437C>T	ENST00000374656.4	+	3	321	c.113C>T	c.(112-114)tCc>tTc	p.S38F	RING1_ENST00000478431.1_3'UTR|MIR219-1_ENST00000362166.1_RNA	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	38	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						ATTGCTGTTTCCCCTCGGTCA	0.507													ENSG00000204227																																					0													196.0	157.0	171.0					6																	33177437		1511	2709	4220	SO:0001583	missense	0			-		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.113C>T	6.37:g.33177437C>T	ENSP00000363787:p.Ser38Phe		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S38F	ENST00000374656.4	37	c.113	CCDS34424.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051188	0.75960	.	.	ENSG00000204227	ENST00000374656	T	0.68181	-0.31	4.07	4.07	0.47477	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79463	-0.1793	10	0.87932	D	0	-14.8792	13.8	0.63194	0.0:1.0:0.0:0.0	.	38	Q06587	RING1_HUMAN	F	38	ENSP00000363787:S38F	ENSP00000363787:S38F	S	+	2	0	RING1	33285415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.285000	0.78660	2.090000	0.63153	0.542000	0.68232	TCC	-	RING1	-	NULL		0.507	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RING1	HGNC	protein_coding	OTTHUMT00000076609.2	0	0	1	25	25	96	0.00	1.03	C			33177437	+1	4	17	17	58	tier1	no_errors	ENST00000374656	ensembl	human	known	74_37	missense	19.05	22.67	SNP	1.000	T	4	17
AP001372.2	0	genome.wustl.edu	37	11	74207929	74207929	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:74207929C>T	ENST00000526036.1	+	0	844																											ccatgcattcccacaaaaagt	0.517													ENSG00000254837																																					0																																												0			-																													11.37:g.74207929C>T				R	SNP	-	NULL	ENST00000526036.1	37	NULL		11																																																																																			-	AP001372.2	-	-		0.517	AP001372.2-001	KNOWN	basic	lincRNA	LOC100287896	Clone_based_vega_gene	lincRNA	OTTHUMT00000317865.2	0	0	1	14	14	103	0.00	0.96	C			74207929	+1	10	38	17	54	tier1	no_errors	ENST00000526036	ensembl	human	known	74_37	rna	37.04	41.30	SNP	0.204	T	10	17
RRP12	23223	genome.wustl.edu	37	10	99130864	99130864	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99130864G>A	ENST00000370992.4	-	21	2455				RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Intron|RRP12_ENST00000536831.1_Intron|RRP12_ENST00000315563.6_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CGGTGAGGGAGGCCTGGGGCT	0.652													ENSG00000052749																																					0													25.0	25.0	25.0					10																	99130864		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2344-26C>T	10.37:g.99130864G>A			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	R	SNP	-	NULL	ENST00000370992.4	37	NULL	CCDS7457.1	10																																																																																			-	RRP12	-	-		0.652	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	0	0	0	19	19	41	0.00	0.00	G	NM_015179		99130864	-1	14	16	9	22	tier1	no_errors	ENST00000479481	ensembl	human	known	74_37	rna	60.87	42.11	SNP	0.000	A	14	9
TAF1L	138474	genome.wustl.edu	37	9	32634722	32634722	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:32634722G>A	ENST00000242310.4	-	1	945	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	286					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCAGCTCACGATGCTTCTTC	0.483													ENSG00000122728																																					0													175.0	158.0	163.0					9																	32634722		2203	4300	6503	SO:0001583	missense	0			-	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.856C>T	9.37:g.32634722G>A	ENSP00000418379:p.Arg286Cys		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R286C	ENST00000242310.4	37	c.856	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078046	0.36662	.	.	ENSG00000122728	ENST00000242310	T	0.09445	2.98	1.04	1.04	0.20106	.	0.186546	0.46145	D	0.000313	T	0.09158	0.0226	N	0.24115	0.695	0.51012	D	0.999909	D	0.65815	0.995	P	0.48677	0.586	T	0.15752	-1.0426	10	0.62326	D	0.03	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	286	Q8IZX4	TAF1L_HUMAN	C	286	ENSP00000418379:R286C	ENSP00000418379:R286C	R	-	1	0	TAF1L	32624722	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	1.379000	0.34340	0.507000	0.28148	0.195000	0.17529	CGT	-	TAF1L	-	pirsf_TAF1_animal		0.483	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	0	0	0	91	91	97	0.00	0.00	G			32634722	-1	21	19	61	85	tier1	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	25.61	18.27	SNP	1.000	A	21	61
PLCB4	5332	genome.wustl.edu	37	20	9461063	9461063	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:9461063G>A	ENST00000378493.1	+	0	4970				PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_3'UTR|PLCB4_ENST00000378501.2_3'UTR|PLCB4_ENST00000278655.4_3'UTR|PLCB4_ENST00000334005.3_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGAAAATGATGATACCATCAA	0.343													ENSG00000101333																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.*1427G>A	20.37:g.9461063G>A			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	R	SNP	-	NULL	ENST00000378493.1	37	NULL	CCDS13105.1	20																																																																																			-	PLCB4	-	-		0.343	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	0	0	0	60	60	90	0.00	0.00	G			9461063	+1	29	52	49	88	tier1	no_errors	ENST00000464199	ensembl	human	known	74_37	rna	37.18	37.14	SNP	1.000	A	29	49
EYS	346007	genome.wustl.edu	37	6	64574181	64574181	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:64574181C>T	ENST00000370621.3	-	36	7652	c.7126G>A	c.(7126-7128)Gaa>Aaa	p.E2376K	EYS_ENST00000370616.2_Missense_Mutation_p.E2376K|EYS_ENST00000503581.1_Missense_Mutation_p.E2376K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2376	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGGTTGTTTTCACAACTTGCA	0.438													ENSG00000188107																																					0													101.0	86.0	91.0					6																	64574181		692	1591	2283	SO:0001583	missense	0			-		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.7126G>A	6.37:g.64574181C>T	ENSP00000359655:p.Glu2376Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E2376K	ENST00000370621.3	37	c.7126		6	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948413	0.53186	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.19532	2.14;2.14;2.14	4.76	3.89	0.44902	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.137546	0.28560	U	0.014911	T	0.09949	0.0244	N	0.21282	0.65	0.80722	D	1	P;P	0.46277	0.875;0.802	B;P	0.53649	0.341;0.731	T	0.05818	-1.0862	10	0.09843	T	0.71	.	11.3966	0.49845	0.0:0.9153:0.0:0.0847	.	2376;2376	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	2376	ENSP00000424243:E2376K;ENSP00000359655:E2376K;ENSP00000359650:E2376K	ENSP00000359650:E2376K	E	-	1	0	EYS	64632140	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.401000	0.59716	0.996000	0.38943	-0.150000	0.13652	GAA	-	EYS	-	smart_EG-like_dom,pfscan_EG-like_dom		0.438	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	0	0	0	46	46	123	0.00	0.00	C	XM_294050		64574181	-1	10	20	37	69	tier1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	21.28	22.47	SNP	1.000	T	10	37
TDRD15	100129278	genome.wustl.edu	37	2	21364448	21364448	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:21364448G>A	ENST00000405799.1	+	4	4439	c.4109G>A	c.(4108-4110)gGa>gAa	p.G1370E				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1370	Tudor 6. {ECO:0000255|PROSITE- ProRule:PRU00211}.						hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										ATTTTGCCAGGAAATTCTTTT	0.343													ENSG00000218819																																					0																																										SO:0001583	missense	0			-			2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.4109G>A	2.37:g.21364448G>A	ENSP00000384376:p.Gly1370Glu			Missense_Mutation	SNP	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.G1370E	ENST00000405799.1	37	c.4109		2	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513734	0.12944	.	.	ENSG00000218819	ENST00000405799	T	0.08370	3.1	4.91	-1.25	0.09405	.	.	.	.	.	T	0.02610	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	T	0.47586	-0.9106	5	0.02654	T	1	-21.4773	5.6601	0.17664	0.3736:0.2376:0.3889:0.0	.	.	.	.	E	1370	ENSP00000384376:G1370E	ENSP00000384376:G1370E	G	+	2	0	AC010872.2	21217953	0.000000	0.05858	0.000000	0.03702	0.901000	0.52897	-0.028000	0.12350	-0.651000	0.05415	-0.391000	0.06502	GGA	-	TDRD15	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.343	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1	0	0	0	135	135	71	0.00	0.00	G			21364448	+1	57	38	75	49	tier1	no_errors	ENST00000405799	ensembl	human	novel	74_37	missense	43.18	43.68	SNP	0.000	A	57	75
ABCG2	9429	genome.wustl.edu	37	4	89020483	89020483	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:89020483G>A	ENST00000237612.3	-	12	2030	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	ABCG2_ENST00000515655.1_Silent_p.F495F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	495	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TACCTAACATGAAGTACACTA	0.343													ENSG00000118777																																					0													111.0	110.0	110.0					4																	89020483		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1485C>T	4.37:g.89020483G>A			A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F495	ENST00000237612.3	37	c.1485	CCDS3628.1	4																																																																																			-	ABCG2	-	pfam_ABC_2_trans		0.343	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	0	0	0	140	140	88	0.00	0.00	G	NM_004827		89020483	-1	61	40	31	32	tier1	no_errors	ENST00000237612	ensembl	human	known	74_37	silent	66.30	55.56	SNP	0.987	A	61	31
PAX9	5083	genome.wustl.edu	37	14	37131029	37131029	+	5'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:37131029C>T	ENST00000402703.2	+	0	461				PAX9_ENST00000554201.1_5'Flank|PAX9_ENST00000361487.6_5'Flank	NM_006194.3	NP_006185.1	P55771	PAX9_HUMAN	paired box 9						cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGGCGTGTCCCCAGTGAGTGA	0.607													ENSG00000198807																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000402703.2:c.-266C>T	14.37:g.37131029C>T			Q99582|Q9UQR4	R	SNP	-	NULL	ENST00000402703.2	37	NULL	CCDS9662.1	14																																																																																			-	PAX9	-	-		0.607	PAX9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX9	HGNC	protein_coding		0	0	0	21	21	45	0.00	0.00	C			37131029	+1	6	8	14	24	tier1	no_errors	ENST00000553267	ensembl	human	putative	74_37	rna	30.00	25.00	SNP	0.196	T	6	14
ADARB2	105	genome.wustl.edu	37	10	1599177	1599177	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:1599177C>T	ENST00000381312.1	-	2	426					NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		attttcacctccaggaatctt	0.418													ENSG00000205696																																					0																																										SO:0001627	intron_variant	0			-	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-177822G>A	10.37:g.1599177C>T			B2RPJ5|Q5VUT6|Q5VW42	R	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			-	ADARB2-AS1	-	-		0.418	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2-AS1	HGNC	protein_coding	OTTHUMT00000046426.1	0	0	0	24	24	128	0.00	0.00	C	NM_018702		1599177	+1	15	35	17	80	tier1	no_errors	ENST00000421697	ensembl	human	known	74_37	rna	46.88	30.17	SNP	0.007	T	15	17
MTUS2	23281	genome.wustl.edu	37	13	30061766	30061766	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:30061766C>T	ENST00000380808.2	+	4	552				MTUS2_ENST00000431530.3_Intron|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000542829.1_Intron|MTUS2-AS1_ENST00000323380.5_RNA	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2							cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGGGATGGTCCAGGAGCCACA	0.582													ENSG00000179141																																					0																																										SO:0001627	intron_variant	0			-	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.337-271C>T	13.37:g.30061766C>T			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	R	SNP	-	NULL	ENST00000380808.2	37	NULL	CCDS41874.1	13																																																																																			-	MTUS2-AS1	-	-		0.582	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2-AS1	HGNC	protein_coding	OTTHUMT00000044335.2	0	0	0	32	32	118	0.00	0.00	C	XM_166270		30061766	-1	13	27	10	56	tier1	no_errors	ENST00000323380	ensembl	human	known	74_37	rna	56.52	32.53	SNP	0.000	T	13	10
UGP2	7360	genome.wustl.edu	37	2	64113605	64113605	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:64113605C>T	ENST00000337130.5	+	7	1480	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	UGP2_ENST00000445915.2_Missense_Mutation_p.S344F|UGP2_ENST00000467648.2_Missense_Mutation_p.S324F|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000394417.2_Missense_Mutation_p.S324F	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	335					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CTATGGATTTCTCTTGCAGCA	0.408													ENSG00000169764																																					0													99.0	104.0	102.0					2																	64113605		2203	4300	6503	SO:0001583	missense	0			-		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1004C>T	2.37:g.64113605C>T	ENSP00000338703:p.Ser335Phe		Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.S335F	ENST00000337130.5	37	c.1004	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.248974	0.95305	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	6.07	6.07	0.98685	.	0.264561	0.45126	D	0.000391	T	0.39809	0.1092	L	0.61218	1.895	0.80722	D	1	P;B	0.40230	0.708;0.4	P;P	0.49361	0.608;0.608	T	0.04005	-1.0985	10	0.87932	D	0	-27.407	20.6593	0.99626	0.0:1.0:0.0:0.0	.	344;335	E7EUC7;Q16851	.;UGPA_HUMAN	F	324;324;335;344	ENSP00000377939:S324F;ENSP00000420793:S324F;ENSP00000338703:S335F;ENSP00000411803:S344F	ENSP00000338703:S335F	S	+	2	0	UGP2	63967109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	2.885000	0.99019	0.655000	0.94253	TCT	-	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr		0.408	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	0	0	0	68	68	72	0.00	0.00	C	NM_006759		64113605	+1	13	7	52	33	tier1	no_errors	ENST00000337130	ensembl	human	known	74_37	missense	20.00	17.50	SNP	1.000	T	13	52
PYGM	5837	genome.wustl.edu	37	11	64514753	64514753	+	Missense_Mutation	SNP	G	G	A	rs571207448		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64514753G>A	ENST00000164139.3	-	18	2653	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377487.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.S664F|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	752					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTTTGGGGGAGAAGAAGCC	0.577													ENSG00000068976	G|||	1	0.000199681	0.0008	0.0	5008	,	,		18081	0.0		0.0	False		,,,				2504	0.0																0													132.0	109.0	117.0					11																	64514753		2201	4297	6498	SO:0001583	missense	0			-		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2255C>T	11.37:g.64514753G>A	ENSP00000164139:p.Ser752Phe		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.S752F	ENST00000164139.3	37	c.2255	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015404	0.75161	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94897	-3.33;-3.55	4.62	4.62	0.57501	.	0.000000	0.46442	D	0.000294	D	0.97892	0.9307	H	0.94964	3.605	0.58432	D	0.999992	D;P	0.76494	0.999;0.906	D;P	0.80764	0.994;0.82	D	0.98768	1.0727	10	0.72032	D	0.01	-11.9062	14.9941	0.71415	0.0:0.0:1.0:0.0	.	664;752	A6NDY6;P11217	.;PYGM_HUMAN	F	664;752;733	ENSP00000366650:S664F;ENSP00000164139:S752F	ENSP00000164139:S752F	S	-	2	0	PYGM	64271329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.917000	0.69989	2.413000	0.81919	0.462000	0.41574	TCC	-	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	0	0	0	40	40	109	0.00	0.00	G	NM_005609		64514753	-1	23	37	43	66	tier1	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	34.85	35.92	SNP	1.000	A	23	43
PXDNL	137902	genome.wustl.edu	37	8	52359645	52359645	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:52359645C>T	ENST00000356297.4	-	12	1544	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D482N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	482	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGCCTTGATCGTGCTGTGCT	0.473													ENSG00000147485																																					0													148.0	145.0	146.0					8																	52359645		2026	4179	6205	SO:0001583	missense	0			-		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1444G>A	8.37:g.52359645C>T	ENSP00000348645:p.Asp482Asn		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.D482N	ENST00000356297.4	37	c.1444	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	14.80	2.645018	0.47258	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.80994	-1.44;-1.44	4.02	0.972	0.19704	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88385	0.6422	M	0.91972	3.26	0.28311	N	0.922691	D	0.71674	0.998	P	0.62435	0.902	T	0.79055	-0.1960	9	0.56958	D	0.05	.	5.8693	0.18795	0.0:0.5088:0.3787:0.1125	.	482	A1KZ92	PXDNL_HUMAN	N	482	ENSP00000348645:D482N;ENSP00000444865:D482N	ENSP00000348645:D482N	D	-	1	0	PXDNL	52522198	0.997000	0.39634	0.022000	0.16811	0.390000	0.30446	2.035000	0.41155	-0.135000	0.11495	0.467000	0.42956	GAT	-	PXDNL	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	0	0	0	74	74	82	0.00	0.00	C	NM_144651		52359645	-1	44	41	23	26	tier1	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	65.67	61.19	SNP	0.973	T	44	23
NEDD9	4739	genome.wustl.edu	37	6	11185447	11185447	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:11185447G>A	ENST00000379446.5	-	7	2619	c.2453C>T	c.(2452-2454)tCt>tTt	p.S818F	NEDD9_ENST00000504387.1_Missense_Mutation_p.S818F|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	818					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGCATTTCTAGAAAGGTCTGT	0.512													ENSG00000111859																																					0													86.0	82.0	84.0					6																	11185447		2203	4300	6503	SO:0001583	missense	0			-	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2453C>T	6.37:g.11185447G>A	ENSP00000368759:p.Ser818Phe		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S818F	ENST00000379446.5	37	c.2453	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672443	0.67928	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.25085	1.82;1.82	6.17	6.17	0.99709	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.98;0.999;1.0	D;D;D	0.97110	0.929;0.986;1.0	T	0.42068	-0.9473	10	0.87932	D	0	-27.5841	20.8794	0.99867	0.0:0.0:1.0:0.0	.	818;818;818	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	F	818	ENSP00000368759:S818F;ENSP00000422871:S818F	ENSP00000368759:S818F	S	-	2	0	NEDD9	11293433	1.000000	0.71417	0.750000	0.31169	0.289000	0.27227	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCT	-	NEDD9	-	pfam_CAS_DUF3513		0.512	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	0	0	0	44	44	63	0.00	0.00	G	NM_006403		11185447	-1	23	14	19	48	tier1	no_errors	ENST00000379446	ensembl	human	known	74_37	missense	54.76	22.58	SNP	1.000	A	23	19
CAPN5	726	genome.wustl.edu	37	11	76825457	76825457	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:76825457G>A	ENST00000278559.3	+	5	865	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	CAPN5_ENST00000456580.2_Missense_Mutation_p.G266S|CAPN5_ENST00000529629.1_Missense_Mutation_p.G226S|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	226	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CAGCCGGGGCGGCCTCATCAG	0.577											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000149260																																					0													160.0	155.0	157.0					11																	76825457		2200	4292	6492	SO:0001583	missense	0			-		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.676G>A	11.37:g.76825457G>A	ENSP00000278559:p.Gly226Ser	1171	O00263	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.G226S	ENST00000278559.3	37	c.676	CCDS8248.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260129	0.80246	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.86030	-2.06;-2.06;-2.06	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	N	0.01618	-0.8	0.80722	D	1	D;B;B;D	0.89917	1.0;0.337;0.337;1.0	D;B;B;D	0.97110	1.0;0.091;0.091;1.0	T	0.76266	-0.3022	10	0.07990	T	0.79	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	264;266;266;226	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	S	226;266;226;266;266	ENSP00000278559:G226S;ENSP00000432332:G226S;ENSP00000409996:G266S	ENSP00000278559:G226S	G	+	1	0	CAPN5	76503105	1.000000	0.71417	0.948000	0.38648	0.948000	0.59901	9.657000	0.98554	2.438000	0.82558	0.655000	0.94253	GGC	-	CAPN5	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.577	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	HGNC	protein_coding	OTTHUMT00000382564.2	0	0	0	40	40	80	0.00	0.00	G	NM_004055		76825457	+1	15	26	16	42	tier1	no_errors	ENST00000278559	ensembl	human	known	74_37	missense	48.39	38.24	SNP	0.997	A	15	16
FBXL13	222235	genome.wustl.edu	37	7	102523910	102523910	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:102523910A>G	ENST00000313221.4	-	14	1656	c.1230T>C	c.(1228-1230)aaT>aaC	p.N410N	FBXL13_ENST00000436908.1_Silent_p.N410N|FBXL13_ENST00000393772.2_Silent_p.N410N|FBXL13_ENST00000379308.3_Silent_p.N410N|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Silent_p.N410N|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Silent_p.N410N	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	410										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TAACCCTTTTATTTCCTGTTT	0.318													ENSG00000161040																																					0													67.0	68.0	68.0					7																	102523910		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1230T>C	7.37:g.102523910A>G			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.N410	ENST00000313221.4	37	c.1230	CCDS5726.1	7																																																																																			-	FBXL13	-	NULL		0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	0	0	0	53	53	78	0.00	0.00	A	NM_145032		102523910	-1	17	27	32	51	tier1	no_errors	ENST00000313221	ensembl	human	known	74_37	silent	34.69	34.62	SNP	1.000	G	17	32
MAMDC2	256691	genome.wustl.edu	37	9	72659550	72659550	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:72659550G>A	ENST00000377182.4	+	2	702	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	29	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTGTGCCTTTGAAGAGAGCAC	0.607													ENSG00000165072																																					0													56.0	50.0	52.0					9																	72659550		2066	3975	6041	SO:0001583	missense	0			-	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.85G>A	9.37:g.72659550G>A	ENSP00000366387:p.Glu29Lys		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.E29K	ENST00000377182.4	37	c.85	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.299564	0.95574	.	.	ENSG00000165072	ENST00000377182	T	0.04194	3.68	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	M	0.81682	2.555	0.58432	D	0.999992	D	0.67145	0.996	D	0.68943	0.961	T	0.00158	-1.1975	10	0.72032	D	0.01	-23.2194	16.5306	0.84357	0.0:0.0:1.0:0.0	.	29	Q7Z304	MAMC2_HUMAN	K	29	ENSP00000366387:E29K	ENSP00000366387:E29K	E	+	1	0	MAMDC2	71849370	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	5.444000	0.66587	2.631000	0.89168	0.561000	0.74099	GAA	-	MAMDC2	-	superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.607	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	0	0	0	81	81	53	0.00	0.00	G	NM_153267		72659550	+1	40	26	25	11	tier1	no_errors	ENST00000377182	ensembl	human	known	74_37	missense	61.54	70.27	SNP	1.000	A	40	25
GOLGB1	2804	genome.wustl.edu	37	3	121415178	121415178	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121415178T>A	ENST00000340645.5	-	13	4302	c.4177A>T	c.(4177-4179)Aaa>Taa	p.K1393*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.K1398*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1393					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCATCCAGTTTAGGTTGCAAT	0.418													ENSG00000173230																																					0													160.0	166.0	164.0					3																	121415178		2203	4299	6502	SO:0001587	stop_gained	0			-	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4177A>T	3.37:g.121415178T>A	ENSP00000341848:p.Lys1393*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.K1393*	ENST00000340645.5	37	c.4177	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	39	7.307978	0.98200	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	5.65	2.91	0.33838	.	0.677862	0.14544	N	0.313074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	7.602	0.28081	0.0:0.7138:0.1358:0.1504	.	.	.	.	X	1393;1398;1357	.	ENSP00000341848:K1393X	K	-	1	0	GOLGB1	122897868	0.998000	0.40836	0.983000	0.44433	0.337000	0.28794	1.653000	0.37323	0.478000	0.27488	-0.146000	0.13790	AAA	-	GOLGB1	-	superfamily_Prefoldin		0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	0	0	0	110	110	145	0.00	0.00	T	NM_004487		121415178	-1	33	62	76	101	tier1	no_errors	ENST00000340645	ensembl	human	known	74_37	nonsense	30.28	38.04	SNP	1.000	A	33	76
NPR3	4883	genome.wustl.edu	37	5	32724867	32724867	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:32724867G>A	ENST00000265074.8	+	2	1176	c.833G>A	c.(832-834)gGc>gAc	p.G278D	NPR3_ENST00000415167.2_Missense_Mutation_p.G278D|NPR3_ENST00000434067.2_Missense_Mutation_p.G62D|NPR3_ENST00000415685.2_Missense_Mutation_p.G62D	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	278					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CACAGGCATGGCATGACCAGT	0.537													ENSG00000113389																																					0													203.0	210.0	207.0					5																	32724867		2197	4291	6488	SO:0001583	missense	0			-		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.833G>A	5.37:g.32724867G>A	ENSP00000265074:p.Gly278Asp		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.G278D	ENST00000265074.8	37	c.833	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311865	0.81358	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;1.42;1.42	5.37	4.48	0.54585	Extracellular ligand-binding receptor (1);	0.210963	0.50627	D	0.000104	D	0.88187	0.6369	M	0.78916	2.43	0.36009	D	0.837927	D;D;D;D	0.76494	0.999;0.996;0.998;0.998	D;P;P;P	0.64506	0.926;0.9;0.9;0.9	D	0.90599	0.4543	10	0.38643	T	0.18	-24.4736	14.858	0.70355	0.0:0.0:0.8549:0.1451	.	62;62;278;278	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	D	55;62;62;278;278	ENSP00000425325:G55D;ENSP00000388408:G62D;ENSP00000402490:G62D;ENSP00000265074:G278D;ENSP00000398028:G278D	ENSP00000265074:G278D	G	+	2	0	NPR3	32760624	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	4.142000	0.58044	1.186000	0.42985	0.655000	0.94253	GGC	-	NPR3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.537	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	0	0	0	42	42	94	0.00	0.00	G	NM_000908		32724867	+1	16	42	12	39	tier1	no_errors	ENST00000265074	ensembl	human	known	74_37	missense	57.14	51.85	SNP	1.000	A	16	12
CSMD3	114788	genome.wustl.edu	37	8	114186119	114186119	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:114186119G>A	ENST00000297405.5	-	4	785	c.541C>T	c.(541-543)Cct>Tct	p.P181S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P181S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P141S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P181S|CSMD3_ENST00000519485.1_5'Flank	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	181	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAACACCAGGATTTCCACAA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			ENSG00000164796																																					0													78.0	73.0	75.0					8																	114186119		2203	4300	6503	SO:0001583	missense	0			-	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.541C>T	8.37:g.114186119G>A	ENSP00000297405:p.Pro181Ser		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P181S	ENST00000297405.5	37	c.541	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822040	0.50739	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	U	0.000019	D	0.95881	0.8659	H	0.98951	4.38	0.47037	D	0.999296	D;D;P;D	0.89917	1.0;1.0;0.533;0.991	D;D;B;P	0.87578	0.998;0.998;0.183;0.906	D	0.97667	1.0164	10	0.72032	D	0.01	.	17.883	0.88846	0.0:0.0:1.0:0.0	.	181;181;181;141	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	141;181;181;181	ENSP00000345799:P141S;ENSP00000297405:P181S;ENSP00000412263:P181S;ENSP00000343124:P181S	ENSP00000297405:P181S	P	-	1	0	CSMD3	114255295	1.000000	0.71417	0.974000	0.42286	0.413000	0.31143	9.743000	0.98849	2.537000	0.85549	0.655000	0.94253	CCT	-	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	0	0	0	31	31	120	0.00	0.00	G	NM_052900		114186119	-1	10	29	28	47	tier1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	26.32	38.16	SNP	1.000	A	10	28
PKP4	8502	genome.wustl.edu	37	2	159481744	159481744	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:159481744G>A	ENST00000389759.3	+	7	1070	c.958G>A	c.(958-960)Gat>Aat	p.D320N	PKP4_ENST00000389757.3_Missense_Mutation_p.D320N	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	320					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACCCTGACGGATGCACAGAC	0.627										HNSCC(62;0.18)			ENSG00000144283																																					0													57.0	54.0	55.0					2																	159481744		2203	4300	6503	SO:0001583	missense	0			-	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.958G>A	2.37:g.159481744G>A	ENSP00000374409:p.Asp320Asn		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D320N	ENST00000389759.3	37	c.958	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917246	0.92249	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74002	-0.8;-0.8	5.87	5.87	0.94306	.	0.420322	0.27336	N	0.019838	D	0.82582	0.5068	L	0.51422	1.61	0.58432	D	0.999998	D;P;P;D	0.58970	0.972;0.94;0.952;0.984	P;P;P;P	0.61800	0.83;0.773;0.678;0.894	T	0.79761	-0.1667	10	0.41790	T	0.15	-14.6842	20.5827	0.99408	0.0:0.0:1.0:0.0	.	172;320;320;172	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	N	172;320;320	ENSP00000374407:D320N;ENSP00000374409:D320N	ENSP00000374407:D320N	D	+	1	0	PKP4	159189990	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.017000	0.76399	2.941000	0.99782	0.655000	0.94253	GAT	-	PKP4	-	NULL		0.627	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	0	0	0	30	30	50	0.00	0.00	G			159481744	+1	15	15	29	24	tier1	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	34.09	38.46	SNP	0.999	A	15	29
DHCR7	1717	genome.wustl.edu	37	11	71152341	71152341	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:71152341G>A	ENST00000355527.3	-	6	834	c.558C>T	c.(556-558)atC>atT	p.I186I	DHCR7_ENST00000407721.2_Silent_p.I186I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	186					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CATAGCCAAGGATGTTGGCGC	0.572									Smith-Lemli-Opitz syndrome				ENSG00000172893																																					0													172.0	130.0	145.0					11																	71152341		2200	4294	6494	SO:0001819	synonymous_variant	0	Familial Cancer Database	SLOS type I & II	-	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.558C>T	11.37:g.71152341G>A			B2R6Z2|O60492|O60717	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24	p.I186	ENST00000355527.3	37	c.558	CCDS8200.1	11																																																																																			-	DHCR7	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.572	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	HGNC	protein_coding	OTTHUMT00000394243.1	0	0	0	41	41	99	0.00	0.00	G	NM_001360		71152341	-1	18	39	22	52	tier1	no_errors	ENST00000355527	ensembl	human	known	74_37	silent	45.00	42.86	SNP	0.997	A	18	22
COL5A3	50509	genome.wustl.edu	37	19	10114286	10114286	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:10114286C>T	ENST00000264828.3	-	6	889	c.804G>A	c.(802-804)aaG>aaA	p.K268K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	268	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.K268K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCAAATTTCCTTGTTCTTTT	0.572											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000080573																																					1	Substitution - coding silent(1)	endometrium(1)											263.0	196.0	219.0					19																	10114286		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.804G>A	19.37:g.10114286C>T		662	Q9NZQ6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K268	ENST00000264828.3	37	c.804	CCDS12222.1	19																																																																																			-	COL5A3	-	NULL		0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	0	0	0	59	59	130	0.00	0.00	C	NM_015719		10114286	-1	48	81	18	30	tier1	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	72.73	72.32	SNP	0.994	T	48	18
GRIN2B	2904	genome.wustl.edu	37	12	13715942	13715942	+	Silent	SNP	C	C	T	rs149655315		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:13715942C>T	ENST00000609686.1	-	13	4439	c.4230G>A	c.(4228-4230)acG>acA	p.T1410T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1410					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCCCGCCACCGTGGGCTGCC	0.627													ENSG00000273079																																					0								C		2,4404	4.2+/-10.8	0,2,2201	34.0	36.0	35.0		4230	2.4	1.0	12	dbSNP_134	35	0,8600		0,0,4300	no	coding-synonymous	GRIN2B	NM_000834.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1410/1485	13715942	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4230G>A	12.37:g.13715942C>T			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T1410	ENST00000609686.1	37	c.4230	CCDS8662.1	12																																																																																			rs149655315	GRIN2B	-	pfam_NMDAR2_C		0.627	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	0	0	0	27	27	32	0.00	0.00	C			13715942	-1	9	9	20	19	tier1	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	31.03	32.14	SNP	1.000	T	9	20
SPEN	23013	genome.wustl.edu	37	1	16260477	16260477	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16260477C>T	ENST00000375759.3	+	11	7946	c.7742C>T	c.(7741-7743)cCt>cTt	p.P2581L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2581	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTAAAAAGCCTTTAGAAGAA	0.527													ENSG00000065526																																					0													69.0	78.0	75.0					1																	16260477		2203	4300	6503	SO:0001583	missense	0			-		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7742C>T	1.37:g.16260477C>T	ENSP00000364912:p.Pro2581Leu		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P2581L	ENST00000375759.3	37	c.7742	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	1.215	-0.628458	0.03610	.	.	ENSG00000065526	ENST00000375759	T	0.10005	2.92	5.38	5.38	0.77491	.	.	.	.	.	T	0.14570	0.0352	L	0.48642	1.525	0.26619	N	0.972698	B	0.13594	0.008	B	0.12837	0.008	T	0.07770	-1.0755	9	0.54805	T	0.06	-10.0355	18.1188	0.89565	0.0:1.0:0.0:0.0	.	2581	Q96T58	MINT_HUMAN	L	2581	ENSP00000364912:P2581L	ENSP00000364912:P2581L	P	+	2	0	SPEN	16133064	0.092000	0.21681	0.027000	0.17364	0.182000	0.23217	2.984000	0.49353	2.537000	0.85549	0.561000	0.74099	CCT	-	SPEN	-	NULL		0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	0	0	1	70	70	86	0.00	1.15	C	NM_015001		16260477	+1	21	20	69	83	tier1	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	23.33	19.42	SNP	0.159	T	21	69
CA9	768	genome.wustl.edu	37	9	35680961	35680961	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35680961G>A	ENST00000378357.4	+	11	1423		c.e11-1		CA9_ENST00000493245.1_Splice_Site	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX						bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGTACACACAGAAGGGGAACC	0.557													ENSG00000107159																																					0													84.0	92.0	89.0					9																	35680961		2203	4300	6503	SO:0001630	splice_region_variant	0			-	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.1320-1G>A	9.37:g.35680961G>A			Q5T4R1	Splice_Site	SNP	-	e11-1	ENST00000378357.4	37	c.1320-1	CCDS6585.1	9	.	.	.	.	.	.	.	.	.	.	G	9.847	1.192615	0.21954	.	.	ENSG00000107159	ENST00000378357	.	.	.	5.44	-0.48	0.12085	.	.	.	.	.	.	.	.	.	.	.	0.21184	N	0.999762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0009	0.03467	0.1087:0.2608:0.308:0.3226	.	.	.	.	.	-1	.	.	.	+	.	.	CA9	35670961	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.108000	0.10857	-0.304000	0.08843	0.591000	0.81541	.	-	CA9	-	-		0.557	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	HGNC	protein_coding	OTTHUMT00000055479.1	0	0	0	110	110	89	0.00	0.00	G	NM_001216	Intron	35680961	+1	19	20	166	84	tier1	no_errors	ENST00000378357	ensembl	human	known	74_37	splice_site	10.27	19.23	SNP	0.000	A	19	166
AP3B2	8120	genome.wustl.edu	37	15	83328343	83328343	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:83328343A>T	ENST00000261722.3	-	26	3425	c.3218T>A	c.(3217-3219)gTa>gAa	p.V1073E	AP3B2_ENST00000535348.1_Missense_Mutation_p.V1041E|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.V1092E	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1073					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CACATCCTTTACCAGCATGGT	0.552													ENSG00000103723																																					0													100.0	95.0	97.0					15																	83328343		2057	4199	6256	SO:0001583	missense	0			-	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3218T>A	15.37:g.83328343A>T	ENSP00000261722:p.Val1073Glu		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.V1073E	ENST00000261722.3	37	c.3218	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	A	21.9	4.210199	0.79240	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.58506	0.33;0.33;0.33	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.62723	1.935	0.80722	D	1	D;B;B	0.76494	0.999;0.421;0.421	D;B;B	0.68353	0.957;0.203;0.203	T	0.72737	-0.4203	10	0.87932	D	0	-19.9498	9.6678	0.39994	0.9215:0.0:0.0785:0.0	.	1041;1092;1073	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	E	1073;1041;1092	ENSP00000261722:V1073E;ENSP00000438721:V1041E;ENSP00000440984:V1092E	ENSP00000261722:V1073E	V	-	2	0	AP3B2	81125398	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.271000	0.58902	2.043000	0.60533	0.379000	0.24179	GTA	-	AP3B2	-	pirsf_AP3_beta		0.552	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	0	0	0	30	30	103	0.00	0.00	A			83328343	-1	7	15	32	43	tier1	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	17.95	25.86	SNP	1.000	T	7	32
SERPINA10	51156	genome.wustl.edu	37	14	94756286	94756286	+	Silent	SNP	C	C	T	rs367966236		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:94756286C>T	ENST00000393096.1	-	2	1110	c.645G>A	c.(643-645)ggG>ggA	p.G215G	SERPINA10_ENST00000554723.1_Silent_p.G255G|SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000261994.4_Silent_p.G215G	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	215					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G215G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGGAATTTTCCCCCGAGTCT	0.388													ENSG00000140093																																					1	Substitution - coding silent(1)	pancreas(1)						C	,	0,4406		0,0,2203	94.0	96.0	95.0		645,645	1.9	0.2	14		95	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	SERPINA10	NM_001100607.1,NM_016186.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	215/445,215/445	94756286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.645G>A	14.37:g.94756286C>T			A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G215	ENST00000393096.1	37	c.645	CCDS9923.1	14																																																																																			-	SERPI10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.388	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPI10	HGNC	protein_coding	OTTHUMT00000413061.1	0	0	0	98	98	142	0.00	0.00	C	NM_016186		94756286	-1	45	46	54	57	tier1	no_errors	ENST00000261994	ensembl	human	known	74_37	silent	45.45	44.66	SNP	0.964	T	45	54
SULT4A1	25830	genome.wustl.edu	37	22	44221920	44221920	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:44221920C>T	ENST00000330884.4	-	7	936	c.816G>A	c.(814-816)aaG>aaA	p.K272K	SULT4A1_ENST00000540422.1_Silent_p.K159K	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACTTTCCCATCTTCTGTTTAT	0.428													ENSG00000130540																																					0													182.0	164.0	170.0					22																	44221920		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.816G>A	22.37:g.44221920C>T			B2R7N3|O43728	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K272	ENST00000330884.4	37	c.816	CCDS14051.1	22																																																																																			-	SULT4A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.428	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	0	0	0	83	83	135	0.00	0.00	C	NM_014351		44221920	-1	32	49	57	71	tier1	no_errors	ENST00000330884	ensembl	human	known	74_37	silent	35.96	40.50	SNP	1.000	T	32	57
KCNG1	3755	genome.wustl.edu	37	20	49620663	49620663	+	Silent	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:49620663G>T	ENST00000371571.4	-	3	1740	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	485					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGGTTTTGATGAGGAACTGCG	0.577													ENSG00000026559																																					0													101.0	74.0	83.0					20																	49620663		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1455C>A	20.37:g.49620663G>T			A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.L485	ENST00000371571.4	37	c.1455	CCDS13436.1	20																																																																																			-	KCNG1	-	NULL		0.577	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	0	0	0	35	35	84	0.00	0.00	G	NM_002237		49620663	-1	11	36	27	73	tier1	no_errors	ENST00000371571	ensembl	human	known	74_37	silent	28.95	33.03	SNP	0.969	T	11	27
SLC25A1P5	642290	genome.wustl.edu	37	19	28296625	28296625	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:28296625C>T	ENST00000592806.1	+	0	163																											TTTGTTGGGGCTGTCCACTCG	0.607													ENSG00000267575																																					0																																												0			-																													19.37:g.28296625C>T				R	SNP	-	NULL	ENST00000592806.1	37	NULL		19																																																																																			-	CTC-459F4.3	-	-		0.607	LLNLF-65H9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000267575	Clone_based_vega_gene	processed_transcript	OTTHUMT00000452876.1	0	0	0	60	60	89	0.00	0.00	C			28296625	+1	16	20	34	64	tier1	no_errors	ENST00000585917	ensembl	human	known	74_37	rna	32.00	23.81	SNP	1.000	T	16	34
AMER3	205147	genome.wustl.edu	37	2	131520777	131520777	+	Missense_Mutation	SNP	G	G	A	rs374958959		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:131520777G>A	ENST00000423981.1	+	2	1242	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	AMER3_ENST00000321420.4_Missense_Mutation_p.E378K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	378					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E378*(1)									CGAGCAGCCCGAATCCGTGTC	0.637													ENSG00000178171																																					1	Substitution - Nonsense(1)	lung(1)						G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	73.0	56.0	62.0		1132,1132,1132,1132	5.4	0.0	2		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	378/862,378/862,378/862,378/862	131520777	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1132G>A	2.37:g.131520777G>A	ENSP00000392700:p.Glu378Lys		B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E378K	ENST00000423981.1	37	c.1132	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076995	0.76415	0.0	1.16E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.24908	1.83;1.83	5.4	5.4	0.78164	.	0.070422	0.52532	D	0.000072	T	0.49949	0.1587	M	0.77103	2.36	0.30537	N	0.766854	D	0.89917	1.0	D	0.72625	0.978	T	0.55685	-0.8102	10	0.59425	D	0.04	.	12.0672	0.53594	0.0:0.0:0.828:0.172	.	378	Q8N944	F123C_HUMAN	K	378	ENSP00000314914:E378K;ENSP00000392700:E378K	ENSP00000314914:E378K	E	+	1	0	FAM123C	131237247	1.000000	0.71417	0.041000	0.18516	0.735000	0.41995	8.421000	0.90259	2.707000	0.92482	0.561000	0.74099	GAA	-	AMER3	-	pfam_Uncharacterised_FAM123		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3	0	0	1	62	62	73	0.00	1.35	G	NM_152698		131520777	+1	13	7	45	32	tier1	no_errors	ENST00000321420	ensembl	human	known	74_37	missense	22.41	17.95	SNP	0.732	A	13	45
PRKG2	5593	genome.wustl.edu	37	4	82125774	82125774	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:82125774G>A	ENST00000395578.1	-	2	544	c.428C>T	c.(427-429)tCc>tTc	p.S143F	PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F|PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	143					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTTCTCAAAGGAAAATTCAGG	0.453													ENSG00000138669																																					0													192.0	225.0	214.0					4																	82125774		2203	4300	6503	SO:0001583	missense	0			-	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.428C>T	4.37:g.82125774G>A	ENSP00000378945:p.Ser143Phe		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.S143F	ENST00000395578.1	37	c.428	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406089	0.42715	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.71341	-0.43;-0.43;-0.56	5.31	5.31	0.75309	.	0.127503	0.56097	D	0.000022	T	0.69242	0.3089	L	0.54323	1.7	0.80722	D	1	B;B	0.25955	0.052;0.138	B;B	0.25987	0.022;0.065	T	0.67288	-0.5708	10	0.52906	T	0.07	-14.9783	18.7471	0.91797	0.0:0.0:1.0:0.0	.	143;143	E7EPE6;Q13237	.;KGP2_HUMAN	F	143	ENSP00000378945:S143F;ENSP00000264399:S143F;ENSP00000389038:S143F	ENSP00000264399:S143F	S	-	2	0	PRKG2	82344798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.758000	0.62220	2.747000	0.94245	0.585000	0.79938	TCC	-	PRKG2	-	pirsf_cGMP-dependent_protein_kinase		0.453	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	0	0	0	86	86	122	0.00	0.00	G	NM_006259		82125774	-1	36	39	37	29	tier1	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	49.32	57.35	SNP	1.000	A	36	37
ZNF804A	91752	genome.wustl.edu	37	2	185801484	185801484	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:185801484C>T	ENST00000302277.6	+	4	1955	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	454							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCATCAATTTCCTATAGCTGT	0.348													ENSG00000170396																																					0													91.0	92.0	92.0					2																	185801484		2203	4300	6503	SO:0001583	missense	0			-	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1361C>T	2.37:g.185801484C>T	ENSP00000303252:p.Ser454Phe		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S454F	ENST00000302277.6	37	c.1361	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506751	0.85282	.	.	ENSG00000170396	ENST00000302277	T	0.15139	2.45	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000028	T	0.47284	0.1437	M	0.79693	2.465	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.48692	-0.9013	10	0.87932	D	0	-13.3818	18.5921	0.91217	0.0:1.0:0.0:0.0	.	454	Q7Z570	Z804A_HUMAN	F	454	ENSP00000303252:S454F	ENSP00000303252:S454F	S	+	2	0	ZNF804A	185509729	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.294000	0.78760	2.642000	0.89623	0.591000	0.81541	TCC	-	ZNF804A	-	NULL		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	0	0	0	106	106	138	0.00	0.00	C	NM_194250		185801484	+1	27	23	76	101	tier1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	26.21	18.55	SNP	1.000	T	27	76
MCTP1	79772	genome.wustl.edu	37	5	94259673	94259673	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:94259673A>G	ENST00000515393.1	-	7	1265	c.1266T>C	c.(1264-1266)ttT>ttC	p.F422F	MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000312216.8_Silent_p.F201F|MCTP1_ENST00000505208.1_Silent_p.F201F|MCTP1_ENST00000429576.2_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	422					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTACCCTCCAAAAGAGAGACT	0.294													ENSG00000175471																																					0													62.0	62.0	62.0					5																	94259673		2202	4298	6500	SO:0001819	synonymous_variant	0			-		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1266T>C	5.37:g.94259673A>G			Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.F422	ENST00000515393.1	37	c.1266	CCDS34203.1	5																																																																																			-	MCTP1	-	NULL		0.294	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3	0	0	0	83	83	84	0.00	0.00	A	NM_024717		94259673	-1	45	25	31	34	tier1	no_errors	ENST00000515393	ensembl	human	known	74_37	silent	59.21	42.37	SNP	1.000	G	45	31
MDN1	23195	genome.wustl.edu	37	6	90357806	90357806	+	Missense_Mutation	SNP	C	C	T	rs369030618		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:90357806C>T	ENST00000369393.3	-	99	16455	c.16340G>A	c.(16339-16341)gGg>gAg	p.G5447E	MDN1_ENST00000428876.1_Missense_Mutation_p.G5447E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5447	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATCTGGGACCCAGAGTAATC	0.378													ENSG00000112159																																					0													121.0	117.0	118.0					6																	90357806		2203	4300	6503	SO:0001583	missense	0			-	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16340G>A	6.37:g.90357806C>T	ENSP00000358400:p.Gly5447Glu		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.G5447E	ENST00000369393.3	37	c.16340	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438885	0.63067	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.21932	1.98;1.98	6.17	6.17	0.99709	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59268	-0.7486	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5447	Q9NU22	MDN1_HUMAN	E	5447	ENSP00000358400:G5447E;ENSP00000413970:G5447E	ENSP00000358400:G5447E	G	-	2	0	MDN1	90414527	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GGG	-	MDN1	-	smart_VWF_A,pirsf_Midasin,pfscan_VWF_A		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	0	0	0	110	110	130	0.00	0.00	C			90357806	-1	35	38	60	74	tier1	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	36.84	33.93	SNP	1.000	T	35	60
LTN1	26046	genome.wustl.edu	37	21	30358501	30358501	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:30358501C>A	ENST00000361371.5	-	3	383	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	LTN1_ENST00000389195.2_Missense_Mutation_p.V148F|LTN1_ENST00000389194.2_Missense_Mutation_p.V148F			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	102					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATGGAAGAACTCCTTTCACA	0.323													ENSG00000198862																																					0													64.0	65.0	65.0					21																	30358501		2202	4300	6502	SO:0001583	missense	0			-	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.304G>T	21.37:g.30358501C>A	ENSP00000354977:p.Val102Phe		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.V148F	ENST00000361371.5	37	c.442		21	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374436	0.82573	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.67345	3.57;3.57;-0.26	4.2	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.77791	0.4183	M	0.64567	1.98	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.75769	-0.3201	10	0.27785	T	0.31	.	16.7488	0.85480	0.0:1.0:0.0:0.0	.	102	O94822	LTN1_HUMAN	F	148;102;104;148	ENSP00000373846:V148F;ENSP00000354977:V102F;ENSP00000373847:V148F	ENSP00000354977:V102F	V	-	1	0	LTN1	29280372	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.429000	0.52800	2.190000	0.69967	0.467000	0.42956	GTT	-	LTN1	-	superfamily_ARM-type_fold		0.323	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	0	0	0	194	194	112	0.00	0.00	C	NM_015565		30358501	-1	69	29	111	62	tier1	no_errors	ENST00000389194	ensembl	human	known	74_37	missense	38.33	31.87	SNP	1.000	A	69	111
CD163	9332	genome.wustl.edu	37	12	7640497	7640497	+	Missense_Mutation	SNP	C	C	T	rs369056300		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:7640497C>T	ENST00000359156.4	-	7	1809	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	CD163_ENST00000432237.2_Missense_Mutation_p.G536E|CD163_ENST00000541972.1_Missense_Mutation_p.G524E|CD163_ENST00000396620.3_Missense_Mutation_p.G536E|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	536	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTGTCCATTTCCCTCTCCAAA	0.532													ENSG00000177575																																					0													96.0	84.0	88.0					12																	7640497		2203	4300	6503	SO:0001583	missense	0			-	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1607G>A	12.37:g.7640497C>T	ENSP00000352071:p.Gly536Glu		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.G536E	ENST00000359156.4	37	c.1607	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325302	0.60743	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.21	5.21	0.72293	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.158399	0.43747	D	0.000524	T	0.65196	0.2668	M	0.85710	2.77	0.46542	D	0.999099	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.70981	-0.4724	10	0.87932	D	0	.	16.6253	0.84968	0.0:1.0:0.0:0.0	.	536;536;536	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	E	536;524;536;536	ENSP00000352071:G536E;ENSP00000444071:G524E;ENSP00000379863:G536E;ENSP00000403885:G536E	ENSP00000352071:G536E	G	-	2	0	CD163	7531764	0.475000	0.25894	0.981000	0.43875	0.442000	0.32017	3.247000	0.51422	2.592000	0.87571	0.655000	0.94253	GGA	-	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.532	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	0	0	0	61	61	101	0.00	0.00	C	NM_004244, NM_203416		7640497	-1	13	31	31	50	tier1	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	29.55	38.27	SNP	1.000	T	13	31
MYO3B	140469	genome.wustl.edu	37	2	171258031	171258031	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:171258031G>A	ENST00000408978.4	+	18	2102	c.1959G>A	c.(1957-1959)gaG>gaA	p.E653E	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.E653E|MYO3B_ENST00000334231.6_Silent_p.E662E	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	653	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGCTCCAGGAGGCCCTCACCT	0.552													ENSG00000071909																																					0													81.0	80.0	80.0					2																	171258031		1956	4159	6115	SO:0001819	synonymous_variant	0			-		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1959G>A	2.37:g.171258031G>A			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.E662	ENST00000408978.4	37	c.1986	CCDS42773.1	2																																																																																			-	MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.552	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	0	0	0	56	56	67	0.00	0.00	G			171258031	+1	13	17	39	48	tier1	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	25.00	26.15	SNP	0.996	A	13	39
TAS1R2	80834	genome.wustl.edu	37	1	19166408	19166408	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:19166408G>A	ENST00000375371.3	-	6	2226	c.2205C>T	c.(2203-2205)gaC>gaT	p.D735D		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	735					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGAGCAGCAGGTCCAGGCTGG	0.557													ENSG00000179002																																					0													107.0	102.0	103.0					1																	19166408		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2205C>T	1.37:g.19166408G>A			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.D735	ENST00000375371.3	37	c.2205	CCDS187.1	1																																																																																			-	TAS1R2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3		0.557	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	0	0	0	50	50	113	0.00	0.00	G			19166408	-1	12	31	26	70	tier1	no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	31.58	30.69	SNP	0.999	A	12	26
CLPTM1	1209	genome.wustl.edu	37	19	45491343	45491343	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:45491343C>T	ENST00000337392.5	+	9	1194	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	CLPTM1_ENST00000541297.2_Silent_p.A334A|CLPTM1_ENST00000546079.1_Silent_p.A246A	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	348					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCAGGTGGCCCTGCTGGAGA	0.602													ENSG00000104853																																					0													248.0	195.0	213.0					19																	45491343		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1044C>T	19.37:g.45491343C>T			B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	pfam_CLPTM1	p.A348	ENST00000337392.5	37	c.1044	CCDS12651.1	19																																																																																			-	CLPTM1	-	pfam_CLPTM1		0.602	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	HGNC	protein_coding	OTTHUMT00000453267.1	0	0	0	48	48	84	0.00	0.00	C	NM_001294		45491343	+1	31	23	39	20	tier1	no_errors	ENST00000337392	ensembl	human	known	74_37	silent	44.29	52.27	SNP	0.999	T	31	39
SCTR	6344	genome.wustl.edu	37	2	120221760	120221760	+	Missense_Mutation	SNP	T	T	C	rs374741128		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:120221760T>C	ENST00000019103.5	-	6	842	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	192					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTTGATGAAGTTGGACAGGGC	0.567													ENSG00000080293																																					0								T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	195.0	162.0	173.0		575	4.1	1.0	2		173	0,8600		0,0,4300	no	missense	SCTR	NM_002980.2	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	192/441	120221760	1,13005	2203	4300	6503	SO:0001583	missense	0			-		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.575A>G	2.37:g.120221760T>C	ENSP00000019103:p.Asn192Ser		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1	p.N192S	ENST00000019103.5	37	c.575	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332736	0.60853	2.27E-4	0.0	ENSG00000080293	ENST00000019103	T	0.41758	0.99	5.24	4.06	0.47325	GPCR, family 2-like (1);	0.101618	0.42821	D	0.000646	T	0.33962	0.0881	N	0.13098	0.295	0.39211	D	0.963312	P	0.35139	0.486	P	0.45538	0.484	T	0.36866	-0.9730	10	0.87932	D	0	.	8.9971	0.36059	0.2961:0.0:0.0:0.7039	.	192	P47872	SCTR_HUMAN	S	192	ENSP00000019103:N192S	ENSP00000019103:N192S	N	-	2	0	SCTR	119938230	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	3.993000	0.56987	0.978000	0.38470	0.533000	0.62120	AAC	-	SCTR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.567	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCTR	HGNC	protein_coding	OTTHUMT00000254198.2	0	0	0	42	42	75	0.00	0.00	T			120221760	-1	9	20	33	45	tier1	no_errors	ENST00000019103	ensembl	human	known	74_37	missense	21.43	30.77	SNP	1.000	C	9	33
PDE6B	5158	genome.wustl.edu	37	4	651206	651206	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:651206G>A	ENST00000496514.1	+	10	1345	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.E442K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E163K|RP11-1191J2.2_ENST00000468356.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	442					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GAACAAGCTGGAGAACCGCAA	0.597													ENSG00000133256																									GBM(71;463 1194 9848 25922 46834)												0													210.0	127.0	155.0					4																	651206		2203	4300	6503	SO:0001583	missense	0			-	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1324G>A	4.37:g.651206G>A	ENSP00000420295:p.Glu442Lys		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E442K	ENST00000496514.1	37	c.1324	CCDS33932.1	4	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881120	0.91740	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.69561	-0.41;-0.41;-0.41	4.85	4.85	0.62838	.	0.163442	0.53938	D	0.000058	T	0.80722	0.4677	M	0.88105	2.93	0.80722	D	1	P;P	0.48998	0.866;0.918	P;P	0.55303	0.598;0.773	T	0.82835	-0.0261	10	0.40728	T	0.16	.	15.4521	0.75282	0.0:0.0:1.0:0.0	.	442;442	P35913;P35913-2	PDE6B_HUMAN;.	K	442;442;163	ENSP00000255622:E442K;ENSP00000420295:E442K;ENSP00000406334:E163K	ENSP00000255622:E442K	E	+	1	0	PDE6B	641206	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.191000	0.94940	2.224000	0.72417	0.447000	0.29281	GAG	-	PDE6B	-	NULL		0.597	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	0	0	0	70	70	118	0.00	0.00	G	NM_000283		651206	+1	28	47	14	29	tier1	no_errors	ENST00000496514	ensembl	human	known	74_37	missense	66.67	61.84	SNP	1.000	A	28	14
TMED2	10959	genome.wustl.edu	37	12	124069231	124069231	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:124069231C>T	ENST00000262225.3	+	1	154	c.48C>T	c.(46-48)gcC>gcT	p.A16A	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	16	Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		CTCTCCTGGCCACGGTCTCGG	0.642													ENSG00000086598																																					0													49.0	45.0	46.0					12																	124069231		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.48C>T	12.37:g.124069231C>T				Silent	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.A16	ENST00000262225.3	37	c.48	CCDS9250.1	12																																																																																			-	TMED2	-	NULL		0.642	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED2	HGNC	protein_coding	OTTHUMT00000400606.1	0	0	0	94	94	39	0.00	0.00	C	NM_006815		124069231	+1	14	6	68	30	tier1	no_errors	ENST00000262225	ensembl	human	known	74_37	silent	17.07	16.67	SNP	1.000	T	14	68
NUP210P1	255330	genome.wustl.edu	37	3	126385985	126385985	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:126385985G>A	ENST00000357061.3	+	0	437					NR_034158.1				nucleoporin 210kDa pseudogene 1																		ACTGCTTGAAGGAGGCAGCAC	0.522													ENSG00000198284																																					0																																												0			-	BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126385985G>A				R	SNP	-	NULL	ENST00000357061.3	37	NULL		3																																																																																			-	NUP210P1	-	-		0.522	NUP210P1-002	KNOWN	basic	processed_transcript	NUP210P1	HGNC	pseudogene	OTTHUMT00000356320.1	0	0	0	24	24	102	0.00	0.00	G	NR_034158		126385985	+1	15	33	18	63	tier1	no_errors	ENST00000357061	ensembl	human	known	74_37	rna	44.12	34.02	SNP	0.011	A	15	18
CSMD3	114788	genome.wustl.edu	37	8	113841985	113841985	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:113841985C>T	ENST00000297405.5	-	12	2033	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E493K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E557K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E597K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	597	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGCCAATCTCCAGATCAAAT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			ENSG00000164796																																					0													98.0	89.0	92.0					8																	113841985		2203	4300	6503	SO:0001583	missense	0			-	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1789G>A	8.37:g.113841985C>T	ENSP00000297405:p.Glu597Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E597K	ENST00000297405.5	37	c.1789	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.312576	0.95655	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.04	5.04	0.67666	CUB (5);	0.000000	0.64402	D	0.000003	T	0.76357	0.3976	H	0.99368	4.535	0.43714	D	0.99618	P;D;D	0.89917	0.855;0.999;1.0	P;D;D	0.91635	0.492;0.998;0.999	D	0.83997	0.0341	10	0.24483	T	0.36	.	17.1472	0.86769	0.0:1.0:0.0:0.0	.	493;597;557	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	557;597;493;597	ENSP00000345799:E557K;ENSP00000297405:E597K;ENSP00000412263:E493K;ENSP00000343124:E597K	ENSP00000297405:E597K	E	-	1	0	CSMD3	113911161	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	7.511000	0.81718	2.359000	0.80004	0.650000	0.86243	GAG	-	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	0	0	0	58	58	103	0.00	0.00	C	NM_052900		113841985	-1	15	27	35	58	tier1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	30.00	31.76	SNP	1.000	T	15	35
LRP1B	53353	genome.wustl.edu	37	2	141986907	141986907	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:141986907C>T	ENST00000389484.3	-	6	1666	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	232					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)		AATTTCATTTCCATTGACTGA	0.299										TSP Lung(27;0.18)			ENSG00000168702																									Colon(99;50 2074 2507 20106)												0													51.0	53.0	52.0					2																	141986907		2202	4295	6497	SO:0001583	missense	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.695G>A	2.37:g.141986907C>T	ENSP00000374135:p.Gly232Glu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	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.G232E	ENST00000389484.3	37	c.695	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	7.223	0.597689	0.13875	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91464	-2.85	5.2	3.4	0.38934	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.540074	0.17189	U	0.183575	T	0.82231	0.4992	L	0.43152	1.355	0.22954	N	0.998518	B	0.02656	0.0	B	0.01281	0.0	T	0.63129	-0.6706	10	0.02654	T	1	.	6.6258	0.22828	0.0:0.6937:0.1473:0.159	.	232	Q9NZR2	LRP1B_HUMAN	E	232;170	ENSP00000374135:G232E	ENSP00000374135:G232E	G	-	2	0	LRP1B	141703377	1.000000	0.71417	0.925000	0.36789	0.990000	0.78478	2.611000	0.46334	0.596000	0.29794	0.585000	0.79938	GGA	-	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	0	0	0	123	123	73	0.00	0.00	C	NM_018557		141986907	-1	30	21	48	44	tier1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	38.46	32.31	SNP	0.978	T	30	48
ERN2	10595	genome.wustl.edu	37	16	23721500	23721500	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:23721500C>T	ENST00000457008.2	-	4	337	c.299G>A	c.(298-300)gGa>gAa	p.G100E	CTD-2385L22.1_ENST00000563611.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.G148E					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AACCATTAATCCCTGTTGTTT	0.522													ENSG00000134398																																					0													94.0	79.0	84.0					16																	23721500		2197	4300	6497	SO:0001583	missense	0			-	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.299G>A	16.37:g.23721500C>T	ENSP00000413812:p.Gly100Glu			Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.G148E	ENST00000457008.2	37	c.443		16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032177	0.75504	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	.	0.103073	0.64402	D	0.000003	T	0.72439	0.3460	M	0.71206	2.165	0.53688	D	0.999978	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.959	T	0.74685	-0.3582	10	0.72032	D	0.01	.	17.0563	0.86534	0.0:1.0:0.0:0.0	.	100;100	E7ETG2;A5YM65	.;.	E	148;100	ENSP00000256797:G148E;ENSP00000413812:G100E	ENSP00000256797:G148E	G	-	2	0	ERN2	23629001	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.025000	0.64097	2.620000	0.88729	0.563000	0.77884	GGA	-	ERN2	-	superfamily_Quinonprotein_ADH-like_supfam		0.522	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1	0	0	0	79	79	161	0.00	0.00	C			23721500	-1	18	48	59	97	tier1	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	23.38	33.10	SNP	1.000	T	18	59
OR6C6	283365	genome.wustl.edu	37	12	55688710	55688710	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55688710G>A	ENST00000358433.2	-	1	306	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCCGGTAAAAGGATAAAAAAT	0.378													ENSG00000188324																																					0													43.0	46.0	45.0					12																	55688710		2203	4300	6503	SO:0001583	missense	0			-		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.307C>T	12.37:g.55688710G>A	ENSP00000351211:p.Leu103Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L103F	ENST00000358433.2	37	c.307	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	0.734	-0.778674	0.02929	.	.	ENSG00000188324	ENST00000358433	T	0.00840	5.63	4.24	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.156649	0.29676	N	0.011488	T	0.00724	0.0024	L	0.28344	0.845	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48399	-0.9039	10	0.33940	T	0.23	.	3.6944	0.08358	0.0875:0.1238:0.4421:0.3466	.	103	A6NF89	OR6C6_HUMAN	F	103	ENSP00000351211:L103F	ENSP00000351211:L103F	L	-	1	0	OR6C6	53974977	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.838000	0.04372	0.519000	0.28406	0.580000	0.79431	CTT	-	OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.378	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	0	0	0	67	67	60	0.00	0.00	G			55688710	-1	13	7	26	38	tier1	no_errors	ENST00000358433	ensembl	human	known	74_37	missense	33.33	15.56	SNP	0.000	A	13	26
NAV3	89795	genome.wustl.edu	37	12	78513686	78513686	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:78513686G>A	ENST00000397909.2	+	15	3883	c.3710G>A	c.(3709-3711)gGa>gAa	p.G1237E	NAV3_ENST00000228327.6_Missense_Mutation_p.G1237E|NAV3_ENST00000266692.7_Missense_Mutation_p.G1237E|NAV3_ENST00000536525.2_Missense_Mutation_p.G1237E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1237	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGCAGCCAGGATCCAAGTAT	0.453										HNSCC(70;0.22)			ENSG00000067798																																					0													60.0	60.0	60.0					12																	78513686		1881	4121	6002	SO:0001583	missense	0			-	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3710G>A	12.37:g.78513686G>A	ENSP00000381007:p.Gly1237Glu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.G1237E	ENST00000397909.2	37	c.3710		12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096793	0.76870	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.34472	1.4;1.39;1.38;1.36	5.31	5.31	0.75309	.	0.000000	0.39909	U	0.001223	T	0.57858	0.2082	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;0.999;0.988	T	0.58103	-0.7695	10	0.56958	D	0.05	-14.5112	18.9828	0.92761	0.0:0.0:1.0:0.0	.	1237;1237;1237;1237	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	E	1237	ENSP00000446132:G1237E;ENSP00000381007:G1237E;ENSP00000228327:G1237E;ENSP00000266692:G1237E	ENSP00000228327:G1237E	G	+	2	0	NAV3	77037817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.535000	0.82014	2.484000	0.83849	0.655000	0.94253	GGA	-	V3	-	NULL		0.453	NAV3-001	KNOWN	basic	protein_coding	V3	HGNC	protein_coding	OTTHUMT00000406812.1	0	0	0	41	41	178	0.00	0.00	G	NM_001024383		78513686	+1	10	35	10	65	tier1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	50.00	35.00	SNP	0.999	A	10	10
STAC	6769	genome.wustl.edu	37	3	36570342	36570342	+	Silent	SNP	G	G	A	rs144959929	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36570342G>A	ENST00000273183.3	+	10	1275	c.975G>A	c.(973-975)ggG>ggA	p.G325G	STAC_ENST00000457375.2_Silent_p.G264G	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	325	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CCTTTCAGGGGAAAATTCAAG	0.338													ENSG00000144681																																					0													66.0	65.0	65.0					3																	36570342		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.975G>A	3.37:g.36570342G>A			B2R8S8	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.G325	ENST00000273183.3	37	c.975	CCDS2662.1	3																																																																																			-	STAC	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain		0.338	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	0	0	0	81	81	69	0.00	0.00	G	NM_003149		36570342	+1	33	29	56	73	tier1	no_errors	ENST00000273183	ensembl	human	known	74_37	silent	37.08	28.43	SNP	0.990	A	33	56
MTERF2	80298	genome.wustl.edu	37	12	107371875	107371875	+	Silent	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:107371875T>C	ENST00000552029.1	-	2	2686	c.618A>G	c.(616-618)aaA>aaG	p.K206K	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.K206K|MTERFD3_ENST00000240050.4_Silent_p.K206K			Q49AM1	MTEF2_HUMAN		206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTAGCCAAACTTTCATGTTGG	0.363													ENSG00000120832																																					0													43.0	47.0	46.0					12																	107371875		2202	4300	6502	SO:0001819	synonymous_variant	0			-																												ENST00000552029.1:c.618A>G	12.37:g.107371875T>C			Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.K206	ENST00000552029.1	37	c.618	CCDS9111.1	12																																																																																			-	MTERFD3	-	pfam_Mit_transcrip_term-rel		0.363	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MTERFD3	HGNC	protein_coding	OTTHUMT00000406835.1	0	0	0	89	89	101	0.00	0.00	T			107371875	-1	15	31	48	54	tier1	no_errors	ENST00000240050	ensembl	human	known	74_37	silent	23.81	36.05	SNP	1.000	C	15	48
FSIP2	401024	genome.wustl.edu	37	2	186662137	186662137	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186662137A>T	ENST00000424728.1	+	16	10274	c.10274A>T	c.(10273-10275)aAg>aTg	p.K3425M	FSIP2_ENST00000343098.5_Missense_Mutation_p.K3514M|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3425										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAGACTGTGAAGGAAGTTGAA	0.383													ENSG00000188738																																					0																																										SO:0001583	missense	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.10274A>T	2.37:g.186662137A>T	ENSP00000401306:p.Lys3425Met		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.K3514M	ENST00000424728.1	37	c.10541		2	.	.	.	.	.	.	.	.	.	.	A	6.824	0.521148	0.13005	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.51817	0.69;0.69	5.32	5.32	0.75619	.	0.329212	0.26297	N	0.025189	T	0.45094	0.1325	L	0.32530	0.975	0.09310	N	1	.	.	.	.	.	.	T	0.47394	-0.9121	8	0.87932	D	0	.	11.6113	0.51062	1.0:0.0:0.0:0.0	.	.	.	.	M	3514;3425;3425	ENSP00000344403:K3514M;ENSP00000401306:K3425M	ENSP00000321903:K3425M	K	+	2	0	FSIP2	186370382	0.968000	0.33430	0.087000	0.20705	0.048000	0.14542	3.963000	0.56773	2.233000	0.73108	0.455000	0.32223	AAG	-	FSIP2	-	NULL		0.383	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0	0	219	219	115	0.00	0.00	A	NM_173651		186662137	+1	31	16	99	89	tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	23.85	15.24	SNP	0.086	T	31	99
RYR3	6263	genome.wustl.edu	37	15	33928630	33928630	+	Silent	SNP	G	G	A	rs183590100		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:33928630G>A	ENST00000389232.4	+	27	3505	c.3435G>A	c.(3433-3435)ggG>ggA	p.G1145G	RYR3_ENST00000415757.3_Silent_p.G1145G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1145	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCAGCCAGGGGATGTGGTCG	0.502													ENSG00000198838																																					0													211.0	213.0	212.0					15																	33928630		2091	4221	6312	SO:0001819	synonymous_variant	0			-		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3435G>A	15.37:g.33928630G>A			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G1145	ENST00000389232.4	37	c.3435	CCDS45210.1	15																																																																																			-	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	0	0	0	86	86	153	0.00	0.00	G			33928630	+1	34	42	30	36	tier1	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	53.12	53.85	SNP	0.970	A	34	30
EPHA2	1969	genome.wustl.edu	37	1	16460971	16460971	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16460971G>A	ENST00000358432.5	-	8	1828	c.1674C>T	c.(1672-1674)atC>atT	p.I558I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	558					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACCTGCGGTGGATAAAGAAGC	0.607													ENSG00000142627																																					0													68.0	60.0	63.0					1																	16460971		2202	4300	6502	SO:0001819	synonymous_variant	0			-	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1674C>T	1.37:g.16460971G>A			B5A968|Q8N3Z2	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.I558	ENST00000358432.5	37	c.1674	CCDS169.1	1																																																																																			-	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt		0.607	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	0	0	1	101	101	95	0.00	1.04	G	NM_004431		16460971	-1	17	17	101	90	tier1	no_errors	ENST00000358432	ensembl	human	known	74_37	silent	14.41	15.89	SNP	1.000	A	17	101
PCNT	5116	genome.wustl.edu	37	21	47836528	47836528	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:47836528G>A	ENST00000359568.5	+	30	6803	c.6696G>A	c.(6694-6696)aaG>aaA	p.K2232K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2232					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCTCAGGAAGGACTGGACCC	0.692													ENSG00000160299																																					0													30.0	35.0	33.0					21																	47836528		2202	4298	6500	SO:0001819	synonymous_variant	0			-	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6696G>A	21.37:g.47836528G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.K2232	ENST00000359568.5	37	c.6696	CCDS33592.1	21																																																																																			-	PCNT	-	NULL		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	0	0	0	69	69	18	0.00	0.00	G	NM_006031		47836528	+1	36	2	52	14	tier1	no_errors	ENST00000359568	ensembl	human	known	74_37	silent	40.91	12.50	SNP	0.990	A	36	52
TARID	100507308	genome.wustl.edu	37	6	134142646	134142646	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:134142646C>T	ENST00000607033.1	-	0	454				RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000419627.1_RNA|RP4-662A9.2_ENST00000456347.1_lincRNA																							gctagtaactccttcatctca	0.502													ENSG00000223586																																					0																																												0			-																													6.37:g.134142646C>T				R	SNP	-	NULL	ENST00000607033.1	37	NULL		6																																																																																			-	RP4-662A9.2	-	-		0.502	RP3-323P13.2-002	KNOWN	basic	antisense	MGC34034	Clone_based_vega_gene	antisense	OTTHUMT00000470371.1	0	0	0	71	71	86	0.00	0.00	C			134142646	+1	15	27	42	34	tier1	no_errors	ENST00000456347	ensembl	human	known	74_37	rna	26.32	44.26	SNP	0.001	T	15	42
TRPV5	56302	genome.wustl.edu	37	7	142612506	142612506	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:142612506C>T	ENST00000265310.1	-	10	1605	c.1257G>A	c.(1255-1257)acG>acA	p.T419T		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	419					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCCCAAGAATCGTCTTTCCAA	0.507													ENSG00000127412																																					0													149.0	144.0	146.0					7																	142612506		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1257G>A	7.37:g.142612506C>T			A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.T419	ENST00000265310.1	37	c.1257	CCDS5875.1	7																																																																																			-	TRPV5	-	prints_TRPV5/TRPV6,tigrfam_TRP_channel		0.507	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	0	0	0	52	52	106	0.00	0.00	C	NM_019841		142612506	-1	9	14	31	52	tier1	no_errors	ENST00000265310	ensembl	human	known	74_37	silent	22.50	20.90	SNP	0.000	T	9	31
MYLK2	85366	genome.wustl.edu	37	20	30408108	30408108	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:30408108G>A	ENST00000375994.2	+	2	505	c.232G>A	c.(232-234)Gga>Aga	p.G78R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G78R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	78					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCCCCAAAGGAGAGGGTGA	0.667													ENSG00000101306																																					0													27.0	32.0	30.0					20																	30408108		2198	4281	6479	SO:0001583	missense	0			-	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.232G>A	20.37:g.30408108G>A	ENSP00000365162:p.Gly78Arg		Q569L1|Q96I84	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G78R	ENST00000375994.2	37	c.232	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	g	13.38	2.219665	0.39201	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68765	-0.35;-0.35	4.81	2.89	0.33648	.	.	.	.	.	T	0.54854	0.1884	L	0.36672	1.1	0.09310	N	1	P	0.36065	0.535	B	0.37833	0.259	T	0.43245	-0.9403	9	0.40728	T	0.16	.	7.2625	0.26212	0.1974:0.0:0.8026:0.0	.	78	Q9H1R3	MYLK2_HUMAN	R	78	ENSP00000365162:G78R;ENSP00000365152:G78R	ENSP00000365152:G78R	G	+	1	0	MYLK2	29871769	0.001000	0.12720	0.023000	0.16930	0.020000	0.10135	0.498000	0.22530	0.653000	0.30826	-0.215000	0.12644	GGA	-	MYLK2	-	NULL		0.667	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	0	0	0	117	117	70	0.00	0.00	G	NM_033118		30408108	+1	68	29	90	48	tier1	no_errors	ENST00000375985	ensembl	human	known	74_37	missense	42.77	37.66	SNP	0.058	A	68	90
EDF1	8721	genome.wustl.edu	37	9	139758280	139758280	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139758280G>A	ENST00000224073.1	-	2	149	c.122C>T	c.(121-123)tCc>tTc	p.S41F	EDF1_ENST00000371649.1_Missense_Mutation_p.S41F|EDF1_ENST00000371648.4_Missense_Mutation_p.S41F	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	41	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACATTTCTTGGAAGTCTCCAC	0.507													ENSG00000107223																																					0													257.0	215.0	229.0					9																	139758280		2203	4300	6503	SO:0001583	missense	0			-	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.122C>T	9.37:g.139758280G>A	ENSP00000224073:p.Ser41Phe		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_D-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH	p.S41F	ENST00000224073.1	37	c.122	CCDS7011.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101331	0.76983	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.44	4.53	0.55603	Multiprotein bridging factor 1, N-terminal (1);	0.056500	0.64402	D	0.000001	T	0.70692	0.3253	L	0.54323	1.7	0.58432	D	0.999998	P;P	0.41978	0.725;0.767	P;P	0.53266	0.712;0.722	T	0.72988	-0.4124	9	0.59425	D	0.04	-15.2268	15.7262	0.77763	0.0:0.1373:0.8627:0.0	.	41;41	O60869-2;O60869	.;EDF1_HUMAN	F	41	.	ENSP00000224073:S41F	S	-	2	0	EDF1	138878101	1.000000	0.71417	0.996000	0.52242	0.857000	0.48899	6.868000	0.75516	1.246000	0.43901	0.655000	0.94253	TCC	-	EDF1	-	pfam_MBF1_N		0.507	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDF1	HGNC	protein_coding	OTTHUMT00000055143.1	0	0	0	54	54	121	0.00	0.00	G			139758280	-1	24	61	16	21	tier1	no_errors	ENST00000224073	ensembl	human	known	74_37	missense	60.00	73.49	SNP	1.000	A	24	16
KPNA7	402569	genome.wustl.edu	37	7	98786157	98786157	+	Silent	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:98786157G>T	ENST00000327442.6	-	6	705	c.666C>A	c.(664-666)acC>acA	p.T222T		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	222					cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						GATTCGACAAGGTCCACGTGA	0.527													ENSG00000185467																																					0													32.0	27.0	29.0					7																	98786157		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.666C>A	7.37:g.98786157G>T			A4D277	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.T222	ENST00000327442.6	37	c.666	CCDS47651.1	7																																																																																			-	KP7	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.527	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KP7	HGNC	protein_coding	OTTHUMT00000335118.1	0	0	0	23	23	156	0.00	0.00	G	NM_001145715		98786157	-1	4	34	11	64	tier1	no_errors	ENST00000327442	ensembl	human	known	74_37	silent	26.67	34.34	SNP	0.058	T	4	11
CNKSR2	22866	genome.wustl.edu	37	X	21627715	21627715	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:21627715G>A	ENST00000379510.3	+	20	2708	c.2672G>A	c.(2671-2673)gGg>gAg	p.G891E	CNKSR2_ENST00000279451.4_Missense_Mutation_p.G891E|CNKSR2_ENST00000425654.2_Missense_Mutation_p.G861E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G842E	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	891					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						gaggCAGCAGGGGAAAACATA	0.473													ENSG00000149970																																					0													27.0	19.0	21.0					X																	21627715		2195	4275	6470	SO:0001583	missense	0			-	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2672G>A	X.37:g.21627715G>A	ENSP00000368824:p.Gly891Glu		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.G891E	ENST00000379510.3	37	c.2672	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.941965	0.02322	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.16457	2.6;2.34;2.35;2.61	5.38	4.46	0.54185	.	0.129358	0.50627	D	0.000107	T	0.11580	0.0282	L	0.38175	1.15	0.27585	N	0.949453	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.08249	-1.0731	10	0.37606	T	0.19	-6.9948	4.3562	0.11179	0.0929:0.1529:0.5937:0.1606	.	861;842;483;891	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	E	861;842;891;891	ENSP00000397906:G861E;ENSP00000444633:G842E;ENSP00000279451:G891E;ENSP00000368824:G891E	ENSP00000279451:G891E	G	+	2	0	CNKSR2	21537636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.160000	0.31761	2.365000	0.80145	0.513000	0.50165	GGG	-	CNKSR2	-	NULL		0.473	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	0	0	0	59	59	54	0.00	0.00	G	NM_014927		21627715	+1	33	28	12	21	tier1	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	73.33	57.14	SNP	0.998	A	33	12
ZNF717	100131827	genome.wustl.edu	37	3	75786858	75786858	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:75786858C>T	ENST00000478296.1	-	4	2042	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	ZNF717_ENST00000422325.1_Missense_Mutation_p.G639E|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Missense_Mutation_p.G632E|ZNF717_ENST00000477374.1_Intron			Q9BY31	ZN717_HUMAN	zinc finger protein 717	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						TGTGTGAGTTCCCTGATGGGT	0.438													ENSG00000227124																																					0													24.0	29.0	28.0					3																	75786858		632	1557	2189	SO:0001583	missense	0			-	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.1766G>A	3.37:g.75786858C>T	ENSP00000419377:p.Gly589Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G639E	ENST00000478296.1	37	c.1916		3	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178632	0.38511	.	.	ENSG00000227124	ENST00000478296;ENST00000422325;ENST00000400845	T;T;T	0.18174	2.23;2.23;2.23	1.9	1.0	0.19881	.	.	.	.	.	T	0.08044	0.0201	N	0.16130	0.375	0.19300	N	0.999974	P	0.38280	0.625	B	0.34652	0.187	T	0.24835	-1.0149	9	0.72032	D	0.01	.	2.6074	0.04881	0.2826:0.5419:0.0:0.1756	.	639	C9JSV9	.	E	589;639;632	ENSP00000419377:G589E;ENSP00000409514:G639E;ENSP00000383643:G632E	ENSP00000383643:G632E	G	-	2	0	ZNF717	75869548	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.380000	0.20602	0.396000	0.25283	-0.272000	0.10252	GGA	-	ZNF717	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	ZNF717	HGNC	protein_coding	OTTHUMT00000352764.2	0	0	0	48	48	37	0.00	0.00	C	NM_001128223		75786858	-1	12	11	21	14	tier1	no_errors	ENST00000422325	ensembl	human	known	74_37	missense	36.36	44.00	SNP	0.700	T	12	21
ATP8A2	51761	genome.wustl.edu	37	13	26501284	26501284	+	3'UTR	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:26501284A>G	ENST00000491840.1	+	0	2090				ATP8A2_ENST00000255283.8_Intron|ATP8A2_ENST00000381655.2_Intron			Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGAGCACACAAACACTAGCTG	0.537													ENSG00000132932																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000491840.1:c.*2087A>G	13.37:g.26501284A>G			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	R	SNP	-	NULL	ENST00000491840.1	37	NULL		13																																																																																			-	ATP8A2	-	-		0.537	ATP8A2-006	KNOWN	basic	processed_transcript	ATP8A2	HGNC	protein_coding	OTTHUMT00000354574.1	0	0	0	26	26	56	0.00	0.00	A	NM_016529		26501284	+1	16	13	18	34	tier1	no_errors	ENST00000491840	ensembl	human	known	74_37	rna	47.06	27.66	SNP	0.000	G	16	18
SHANK2	22941	genome.wustl.edu	37	11	70666654	70666654	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:70666654G>A	ENST00000423696.2	-	2	207	c.171C>T	c.(169-171)tgC>tgT	p.C57C	SHANK2_ENST00000468619.1_5'UTR|SHANK2_ENST00000338508.4_Silent_p.C437C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	57					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCCGTGGAGCAGACGGCCC	0.716													ENSG00000162105																																					0													16.0	29.0	25.0					11																	70666654		692	1591	2283	SO:0001819	synonymous_variant	0			-	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.171C>T	11.37:g.70666654G>A			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.C437	ENST00000423696.2	37	c.1311		11																																																																																			-	SHANK2	-	NULL		0.716	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		0	0	0	45	45	25	0.00	0.00	G	NM_012309		70666654	-1	11	14	28	13	tier1	no_errors	ENST00000338508	ensembl	human	known	74_37	silent	27.50	51.85	SNP	1.000	A	11	28
DCC	1630	genome.wustl.edu	37	18	51056781	51056781	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:51056781C>T	ENST00000442544.2	+	29	4870				RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.S1073L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor						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)		CCAGCATCTTCATTCAGTGAG	0.458													ENSG00000187323																																					0																																										SO:0001627	intron_variant	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.4255-153C>T	18.37:g.51056781C>T				Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1073L	ENST00000442544.2	37	c.3218	CCDS11952.1	18																																																																																			-	DCC	-	NULL		0.458	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	0	0	0	108	108	92	0.00	0.00	C	NM_005215		51056781	+1	41	55	36	19	tier1	no_errors	ENST00000581580	ensembl	human	putative	74_37	missense	53.25	74.32	SNP	0.080	T	41	36
RCE1	9986	genome.wustl.edu	37	11	66612482	66612482	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:66612482C>T	ENST00000309657.3	+	5	638	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RCE1_ENST00000525356.1_Silent_p.F75F|RCE1_ENST00000524506.1_Silent_p.F198F	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	198					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCTGTGTTCACCTGCCCGC	0.592													ENSG00000173653																																					0													59.0	51.0	54.0					11																	66612482		2200	4295	6495	SO:0001819	synonymous_variant	0			-	AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"""farnesylated protein-converting enzyme 2"", ""prenyl protein-specific endoprotease 2"", ""RCE1 homolog, prenyl protein protease"", ""CAAX prenyl protease 2"""	605385	"""RCE1 (S. Cerevisiae) homolog, prenyl protein protease"", ""RCE1 homolog, prenyl protein peptidase (S. cerevisiae)"", ""RCE1 homolog, prenyl protein protease (S. cerevisiae)"""	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.594C>T	11.37:g.66612482C>T			Q52LZ9	Silent	SNP	pfam_CAAX_protease	p.F198	ENST00000309657.3	37	c.594	CCDS8151.1	11																																																																																			-	RCE1	-	pfam_CAAX_protease		0.592	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	HGNC	protein_coding	OTTHUMT00000393105.1	0	0	0	46	46	81	0.00	0.00	C	NM_005133		66612482	+1	28	60	25	69	tier1	no_errors	ENST00000309657	ensembl	human	known	74_37	silent	52.83	46.51	SNP	1.000	T	28	25
CECR2	27443	genome.wustl.edu	37	22	18029072	18029072	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:18029072C>T	ENST00000400585.2	+	17	4041	c.3603C>T	c.(3601-3603)tcC>tcT	p.S1201S	CECR2_ENST00000400573.5_Silent_p.S1343S|CECR2_ENST00000262608.8_Silent_p.S1344S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1385					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTTACTCTTCCCCTGTGGCTG	0.642													ENSG00000099954																																					0													31.0	37.0	35.0					22																	18029072		1930	4119	6049	SO:0001819	synonymous_variant	0			-	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3603C>T	22.37:g.18029072C>T			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S1343	ENST00000400585.2	37	c.4029		22																																																																																			-	CECR2	-	NULL		0.642	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	0	0	0	47	47	60	0.00	0.00	C	NM_031413		18029072	+1	10	30	39	34	tier1	no_errors	ENST00000400573	ensembl	human	novel	74_37	silent	20.41	46.88	SNP	0.320	T	10	39
AKR1D1	6718	genome.wustl.edu	37	7	137791357	137791357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:137791357G>T	ENST00000242375.3	+	6	625	c.583G>T	c.(583-585)Gag>Tag	p.E195*	AKR1D1_ENST00000432161.1_Nonsense_Mutation_p.E195*|AKR1D1_ENST00000411726.2_Nonsense_Mutation_p.E154*|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	195					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CACATAGGTTGAGTGCCATCC	0.393													ENSG00000122787																																					0													109.0	99.0	103.0					7																	137791357		2203	4300	6503	SO:0001587	stop_gained	0			-	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.583G>T	7.37:g.137791357G>T	ENSP00000242375:p.Glu195*		A1L4P6|A8K060|B4DPN3|B4DPN8	Nonsense_Mutation	SNP	pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.E195*	ENST00000242375.3	37	c.583	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.209294	0.97376	.	.	ENSG00000122787	ENST00000297463;ENST00000432161;ENST00000411726;ENST00000242375	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1122	0.81271	0.0:0.0:1.0:0.0	.	.	.	.	X	73;195;154;195	.	ENSP00000242375:E195X	E	+	1	0	AKR1D1	137441897	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	9.075000	0.94004	2.736000	0.93811	0.591000	0.81541	GAG	-	AKR1D1	-	pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.393	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	0	0	0	64	64	148	0.00	0.00	G	NM_005989		137791357	+1	12	29	31	59	tier1	no_errors	ENST00000242375	ensembl	human	known	74_37	nonsense	27.91	32.95	SNP	1.000	T	12	31
TP53BP2	7159	genome.wustl.edu	37	1	223994597	223994597	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:223994597G>A	ENST00000343537.7	-	5	716	c.425C>T	c.(424-426)tCt>tTt	p.S142F	TP53BP2_ENST00000391878.2_Missense_Mutation_p.S13F	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	136	Gln-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGCTGGCGAGATGCCATTTC	0.423													ENSG00000143514																																					0													159.0	151.0	154.0					1																	223994597		2203	4300	6503	SO:0001583	missense	0			-	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.425C>T	1.37:g.223994597G>A	ENSP00000341957:p.Ser142Phe		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S142F	ENST00000343537.7	37	c.425	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.387599	0.95988	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.33216	1.42;1.42	5.13	5.13	0.70059	.	0.114234	0.64402	D	0.000010	T	0.52853	0.1760	L	0.57536	1.79	0.80722	D	1	D;D	0.69078	0.989;0.997	P;D	0.66847	0.768;0.947	T	0.54695	-0.8255	10	0.72032	D	0.01	.	18.9528	0.92646	0.0:0.0:1.0:0.0	.	142;136	B4DG66;Q13625	.;ASPP2_HUMAN	F	13;142	ENSP00000375750:S13F;ENSP00000341957:S142F	ENSP00000341957:S142F	S	-	2	0	TP53BP2	222061220	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.269000	0.95684	2.544000	0.85801	0.563000	0.77884	TCT	-	TP53BP2	-	NULL		0.423	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	0	0	0	58	58	75	0.00	0.00	G	NM_001031685, NM_005426		223994597	-1	15	19	32	50	tier1	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	31.91	27.14	SNP	1.000	A	15	32
OR2T1	26696	genome.wustl.edu	37	1	248569723	248569723	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248569723C>T	ENST00000366474.1	+	1	428	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCATTTCCTTTGTGGGG	0.473													ENSG00000175143																																					0													183.0	175.0	178.0					1																	248569723		2203	4300	6503	SO:0001583	missense	0			-	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.428C>T	1.37:g.248569723C>T	ENSP00000355430:p.Ser143Phe		Q6IEZ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S143F	ENST00000366474.1	37	c.428	CCDS31115.1	1	.	.	.	.	.	.	.	.	.	.	c	19.41	3.823002	0.71028	.	.	ENSG00000175143	ENST00000366474	T	0.00745	5.75	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.219930	0.23148	U	0.051396	T	0.02156	0.0067	M	0.82630	2.6	0.41796	D	0.989896	B	0.28667	0.219	B	0.30782	0.12	T	0.43798	-0.9369	10	0.87932	D	0	.	16.6928	0.85326	0.0:1.0:0.0:0.0	.	143	O43869	OR2T1_HUMAN	F	143	ENSP00000355430:S143F	ENSP00000355430:S143F	S	+	2	0	OR2T1	246636346	0.134000	0.22483	0.993000	0.49108	0.989000	0.77384	3.245000	0.51407	2.462000	0.83206	0.650000	0.86243	TCC	-	OR2T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	HGNC	protein_coding	OTTHUMT00000097346.2	0	0	0	52	52	158	0.00	0.00	C			248569723	+1	9	32	42	81	tier1	no_errors	ENST00000366474	ensembl	human	known	74_37	missense	17.65	28.32	SNP	1.000	T	9	42
APOB	338	genome.wustl.edu	37	2	21235194	21235194	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:21235194C>T	ENST00000233242.1	-	26	4673	c.4546G>A	c.(4546-4548)Gga>Aga	p.G1516R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1516					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGACTCTCCATTGAGCCGG	0.498													ENSG00000084674																																					0													129.0	127.0	128.0					2																	21235194		2203	4300	6503	SO:0001583	missense	0			-	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4546G>A	2.37:g.21235194C>T	ENSP00000233242:p.Gly1516Arg		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G1516R	ENST00000233242.1	37	c.4546	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184813	0.57909	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00986	5.47	5.88	5.88	0.94601	.	0.107343	0.41097	D	0.000960	T	0.04092	0.0114	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.41502	-0.9505	10	0.59425	D	0.04	.	13.4381	0.61096	0.0:0.9288:0.0:0.0712	.	1516	P04114	APOB_HUMAN	R	1516	ENSP00000233242:G1516R	ENSP00000233242:G1516R	G	-	1	0	APOB	21088699	0.953000	0.32496	0.850000	0.33497	0.368000	0.29767	3.746000	0.55127	2.782000	0.95742	0.655000	0.94253	GGA	-	APOB	-	NULL		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	0	0	0	86	86	125	0.00	0.00	C			21235194	-1	9	27	51	75	tier1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	15.00	26.47	SNP	0.951	T	9	51
BCKDHB	594	genome.wustl.edu	37	6	80878666	80878666	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:80878666C>T	ENST00000320393.6	+	5	599	c.552C>T	c.(550-552)tcC>tcT	p.S184S	BCKDHB_ENST00000356489.5_Silent_p.S184S|BCKDHB_ENST00000545529.1_Silent_p.S184S|BCKDHB_ENST00000369760.4_Silent_p.S184S	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	184					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CTATCCGGTCCCCTTGGGGCT	0.478													ENSG00000083123																																					0													146.0	147.0	147.0					6																	80878666		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.552C>T	6.37:g.80878666C>T			Q5T2J3|Q9BQL0	Silent	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.S184	ENST00000320393.6	37	c.552	CCDS4994.1	6																																																																																			-	BCKDHB	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.478	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	0	0	0	123	123	139	0.00	0.00	C	NM_000056		80878666	+1	37	33	88	69	tier1	no_errors	ENST00000320393	ensembl	human	known	74_37	silent	29.60	32.35	SNP	0.778	T	37	88
SI	6476	genome.wustl.edu	37	3	164739172	164739172	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:164739172C>T	ENST00000264382.3	-	27	3162		c.e27-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATCATAAATCTATTGCAGAT	0.318										HNSCC(35;0.089)			ENSG00000090402																																					0													173.0	175.0	175.0					3																	164739172		2203	4300	6503	SO:0001630	splice_region_variant	0			-	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3100-1G>A	3.37:g.164739172C>T			A2RUC3|Q1JQ80|Q1RMC2	Splice_Site	SNP	-	e26-1	ENST00000264382.3	37	c.3100-1	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553350	0.45487	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5692	0.87930	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SI	166221866	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	6.739000	0.74827	2.378000	0.81104	0.585000	0.79938	.	-	SI	-	-		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	0	0	0	78	78	112	0.00	0.00	C	NM_001041	Intron	164739172	-1	20	41	76	102	tier1	no_errors	ENST00000264382	ensembl	human	known	74_37	splice_site	20.83	28.67	SNP	1.000	T	20	76
PRRC2B	84726	genome.wustl.edu	37	9	134371388	134371388	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:134371388C>T	ENST00000357304.4	+	0	6872				PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000405995.1_3'UTR|PRRC2B_ENST00000458550.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGAGAGACCTCCCTCCTCTCC	0.582													ENSG00000130723																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.*127C>T	9.37:g.134371388C>T			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	R	SNP	-	NULL	ENST00000357304.4	37	NULL	CCDS48044.1	9																																																																																			-	PRRC2B	-	-		0.582	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		0	0	0	29	29	89	0.00	0.00	C			134371388	+1	14	44	5	33	tier1	no_errors	ENST00000465931	ensembl	human	known	74_37	rna	73.68	57.14	SNP	0.001	T	14	5
KLKP1	606293	genome.wustl.edu	37	19	51391340	51391340	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:51391340G>A	ENST00000600104.1	-	0	577							Q107X0	KRIP1_HUMAN	kallikrein pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGAGAGCAGGGCAAACCCCAG	0.567													ENSG00000197588																																					0																																												0			-	AY302756		19q13.33	2014-03-18			ENSG00000197588	ENSG00000197588		"""Kallikreins"""	21260	pseudogene	pseudogene	"""kallikrein 31 pseudogene"""					15498522, 16541416, 18196551	Standard	NR_002948		Approved	YKLK1, PsiKLK1, KLK31P	uc002ptw.3	Q107X0	OTTHUMG00000183118		19.37:g.51391340G>A				R	SNP	-	NULL	ENST00000600104.1	37	NULL		19																																																																																			-	KLKP1	-	-		0.567	KLKP1-002	KNOWN	basic	processed_transcript	KLKP1	HGNC	pseudogene	OTTHUMT00000465166.1	0	0	0	131	131	99	0.00	0.00	G	NG_005220		51391340	-1	62	50	62	51	tier1	no_errors	ENST00000600104	ensembl	human	known	74_37	rna	50.00	49.50	SNP	0.001	A	62	62
PTPRC	5788	genome.wustl.edu	37	1	198687384	198687384	+	Missense_Mutation	SNP	G	G	A	rs144856406	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:198687384G>A	ENST00000367376.2	+	14	1777	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	PTPRC_ENST00000352140.3_Missense_Mutation_p.D488N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D377N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D538N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D375N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	536	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAAGAATTGCGATTTCCGTGT	0.388													ENSG00000081237	G|||	3	0.000599042	0.0023	0.0	5008	,	,		17563	0.0		0.0	False		,,,				2504	0.0																0								G	ASN/ASP,ASN/ASP	7,4399	12.9+/-30.5	0,7,2196	71.0	67.0	69.0		1606,1123	-9.0	0.0	1	dbSNP_134	69	0,8600		0,0,4300	yes	missense,missense	PTPRC	NM_002838.3,NM_080921.2	23,23	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign,benign	536/1305,375/1144	198687384	7,12999	2203	4300	6503	SO:0001583	missense	0			-	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1606G>A	1.37:g.198687384G>A	ENSP00000356346:p.Asp536Asn		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D538N	ENST00000367376.2	37	c.1612		1	.	.	.	.	.	.	.	.	.	.	G	1.583	-0.531171	0.04112	0.001589	0.0	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.55930	0.49	4.52	-9.04	0.00734	Fibronectin, type III (4);Immunoglobulin-like fold (1);	5.728410	0.00357	N	0.000025	T	0.31199	0.0789	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B	0.22851	0.03;0.076;0.009;0.009;0.015	B;B;B;B;B	0.20767	0.024;0.031;0.012;0.012;0.021	T	0.20174	-1.0283	10	0.18710	T	0.47	.	2.477	0.04578	0.1251:0.4042:0.2059:0.2648	.	472;472;377;488;536	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	538;472;488;488;422;536;470;375	ENSP00000193532:D488N	ENSP00000306782:D375N	D	+	1	0	PTPRC	196954007	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-7.717000	0.00031	-5.543000	0.00013	-1.134000	0.01955	GAT	rs144856406	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		0	0	0	80	80	85	0.00	0.00	G			198687384	+1	36	38	60	59	tier1	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	37.50	38.38	SNP	0.000	A	36	60
IGF2	3481	genome.wustl.edu	37	11	2161490	2161490	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2161490G>A	ENST00000381389.1	-	1	160				IGF2_ENST00000300632.5_Intron|IGF2_ENST00000381395.1_5'Flank|IGF2_ENST00000434045.2_Missense_Mutation_p.P13S|IGF2_ENST00000381406.4_5'Flank|IGF2-AS_ENST00000381361.3_RNA|IGF2_ENST00000381392.1_5'Flank|IGF2-AS_ENST00000381363.4_RNA|IGF2_ENST00000418738.2_5'Flank|IGF2-AS_ENST00000445504.2_RNA|IGF2_ENST00000416167.2_5'Flank			P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCGGTCTCGGGGGCCACCACG	0.512													ENSG00000167244																																					0													39.0	41.0	40.0					11																	2161490		1567	3581	5148	SO:0001627	intron_variant	0			-	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000381389.1:c.5+596C>T	11.37:g.2161490G>A			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.P13S	ENST00000381389.1	37	c.37	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411095	0.25465	.	.	ENSG00000167244	ENST00000434045	D	0.92911	-3.13	1.9	1.9	0.25705	.	.	.	.	.	D	0.82930	0.5144	N	0.19112	0.55	0.54753	D	0.999989	B	0.27286	0.174	B	0.16722	0.016	T	0.80761	-0.1238	9	0.87932	D	0	.	7.3842	0.26872	0.0:0.0:1.0:0.0	.	13	C9JAF2	.	S	13	ENSP00000391826:P13S	ENSP00000391826:P13S	P	-	1	0	IGF2	2118066	0.684000	0.27642	0.301000	0.25044	0.098000	0.18820	1.679000	0.37597	1.402000	0.46780	0.479000	0.44913	CCC	-	IGF2	-	NULL		0.512	IGF2-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate|CCDS	protein_coding	IGF2	HGNC	protein_coding	OTTHUMT00000026386.1	0	0	0	245	245	58	0.00	0.00	G	NM_000612		2161490	-1	127	54	115	15	tier1	no_errors	ENST00000434045	ensembl	human	known	74_37	missense	52.48	78.26	SNP	0.719	A	127	115
FCRL3	115352	genome.wustl.edu	37	1	157667157	157667157	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:157667157G>A	ENST00000368184.3	-	6	908	c.617C>T	c.(616-618)cCc>cTc	p.P206L	FCRL3_ENST00000368186.5_Missense_Mutation_p.P206L|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	206	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAGGGTCATGGGACTCCCCTC	0.547													ENSG00000160856																																					0													67.0	72.0	70.0					1																	157667157		2203	4300	6503	SO:0001583	missense	0			-	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.617C>T	1.37:g.157667157G>A	ENSP00000357167:p.Pro206Leu		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P206L	ENST00000368184.3	37	c.617	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440963	0.25900	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12774	2.65;2.65	5.54	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.463335	0.15960	N	0.236295	T	0.04543	0.0124	L	0.47016	1.485	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.17979	0.02;0.017	T	0.30765	-0.9967	10	0.36615	T	0.2	.	7.1279	0.25482	0.0869:0.0:0.7432:0.1699	.	206;206	Q96P31;Q96P31-6	FCRL3_HUMAN;.	L	206	ENSP00000357169:P206L;ENSP00000357167:P206L	ENSP00000292392:P206L	P	-	2	0	FCRL3	155933781	0.277000	0.24220	0.003000	0.11579	0.616000	0.37450	2.493000	0.45320	1.341000	0.45600	0.491000	0.48974	CCC	-	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.547	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	0	0	0	37	37	60	0.00	0.00	G	NM_052939		157667157	-1	5	11	20	31	tier1	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	20.00	26.19	SNP	0.002	A	5	20
TBC1D30	23329	genome.wustl.edu	37	12	65230342	65230342	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:65230342G>A	ENST00000229088.6	+	7	1156	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	TBC1D30_ENST00000539867.1_Missense_Mutation_p.D223N|TBC1D30_ENST00000542120.1_Missense_Mutation_p.D109N			Q9Y2I9	TBC30_HUMAN	TBC1 domain family, member 30	386	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						ATTGTCTGTGGATATGGCTGT	0.388													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.1156G>A	12.37:g.65230342G>A	ENSP00000229088:p.Asp386Asn		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.D386N	ENST00000229088.6	37	c.1156		12	.	.	.	.	.	.	.	.	.	.	G	35	5.530756	0.96446	.	.	ENSG00000111490	ENST00000229088;ENST00000542120;ENST00000539867;ENST00000455166;ENST00000411580	T;T;T	0.24151	1.87;1.87;1.87	5.29	5.29	0.74685	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68918	-0.5282	9	.	.	.	-22.2165	18.9435	0.92612	0.0:0.0:1.0:0.0	.	223;386;223	F5GYJ9;Q9Y2I9;E7EMW4	.;TBC30_HUMAN;.	N	386;109;223;223;181	ENSP00000229088:D386N;ENSP00000440640:D109N;ENSP00000440207:D223N	.	D	+	1	0	TBC1D30	63516609	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.724000	0.91462	2.457000	0.83068	0.462000	0.41574	GAT	-	TBC1D30	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.388	TBC1D30-201	KNOWN	basic	protein_coding	TBC1D30	HGNC	protein_coding		0	0	0	52	52	123	0.00	0.00	G	XM_037557		65230342	+1	10	31	38	64	tier1	no_errors	ENST00000229088	ensembl	human	known	74_37	missense	20.83	32.63	SNP	1.000	A	10	38
GRM3	2913	genome.wustl.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	G	A	rs371949904		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:86468384G>A	ENST00000361669.2	+	4	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_ENST00000546348.1_Missense_Mutation_p.M110I|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.M390I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	518					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.M518I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCAATGAAATGAAGAATATGC	0.522													ENSG00000198822																									GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	skin(1)						G	ILE/MET	1,4405	2.1+/-5.4	0,1,2202	100.0	92.0	95.0		1554	6.2	1.0	7		95	0,8600		0,0,4300	no	missense	GRM3	NM_000840.2	10	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	518/880	86468384	1,13005	2203	4300	6503	SO:0001583	missense	0			-		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1554G>A	7.37:g.86468384G>A	ENSP00000355316:p.Met518Ile		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.M518I	ENST00000361669.2	37	c.1554	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814284	0.32053	2.27E-4	0.0	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;T;D	0.88664	-2.41;-0.4;-2.41	6.17	6.17	0.99709	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	N	0.11756	0.17	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.73987	-0.3809	10	0.13853	T	0.58	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	110;390;518	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	I	518;110;390	ENSP00000355316:M518I;ENSP00000444064:M110I;ENSP00000441407:M390I	ENSP00000355316:M518I	M	+	3	0	GRM3	86306320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.972000	0.88022	2.941000	0.99782	0.655000	0.94253	ATG	-	GRM3	-	pfam_GPCR_3_9-Cys_dom		0.522	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	0	0	0	39	39	100	0.00	0.00	G			86468384	+1	5	13	20	47	tier1	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	20.00	21.67	SNP	1.000	A	5	20
FMO6P	388714	genome.wustl.edu	37	1	171116864	171116864	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:171116864C>T	ENST00000236166.3	+	4	694	c.584C>T	c.(583-585)tCg>tTg	p.S195L				O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene	195						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)										CTGGGGAATTCGGGATCTGAC	0.502													ENSG00000117507																																					0																																										SO:0001583	missense	0			-	AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.584C>T	1.37:g.171116864C>T	ENSP00000236166:p.Ser195Leu			Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1	p.S195L	ENST00000236166.3	37	c.584		1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520022	0.64634	.	.	ENSG00000117507	ENST00000236166	.	.	.	5.36	4.45	0.53987	.	0.070853	0.64402	U	0.000016	T	0.73999	0.3659	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79553	-0.1756	8	0.87932	D	0	-7.8948	13.8997	0.63794	0.0:0.9256:0.0:0.0744	.	195	O60774	FMO6_HUMAN	L	195	.	ENSP00000236166:S195L	S	+	2	0	FMO6P	169383488	0.997000	0.39634	0.949000	0.38748	0.259000	0.26198	3.797000	0.55514	1.273000	0.44346	-0.241000	0.12123	TCG	-	FMO6P	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D		0.502	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	HGNC	protein_coding	OTTHUMT00000385941.4	0	0	0	78	78	114	0.00	0.00	C	XM_371326		171116864	+1	40	30	50	65	tier1	no_errors	ENST00000236166	ensembl	human	novel	74_37	missense	44.44	31.58	SNP	1.000	T	40	50
SLC9A9	285195	genome.wustl.edu	37	3	142985705	142985705	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:142985705C>A	ENST00000316549.6	-	16	1985	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	593					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GAGGCTTGCTCCTGGTAATTT	0.493													ENSG00000181804																																					0													149.0	142.0	144.0					3																	142985705		2203	4300	6503	SO:0001587	stop_gained	0			-	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1777G>T	3.37:g.142985705C>A	ENSP00000320246:p.Glu593*		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E593*	ENST00000316549.6	37	c.1777	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.290319	0.97444	.	.	ENSG00000181804	ENST00000316549	.	.	.	5.7	5.7	0.88788	.	0.143644	0.47455	D	0.000224	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.859	0.35245	0.1519:0.7674:0.0:0.0806	.	.	.	.	X	593	.	ENSP00000320246:E593X	E	-	1	0	SLC9A9	144468395	0.986000	0.35501	1.000000	0.80357	0.620000	0.37586	1.573000	0.36472	2.683000	0.91414	0.655000	0.94253	GAG	-	SLC9A9	-	NULL		0.493	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	0	0	0	65	65	124	0.00	0.00	C	NM_173653		142985705	-1	23	40	49	86	tier1	no_errors	ENST00000316549	ensembl	human	known	74_37	nonsense	31.94	31.75	SNP	1.000	A	23	49
OR52A4	390053	genome.wustl.edu	37	11	5142855	5142855	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:5142855C>T	ENST00000498233.1	-	0	543							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCTGTGATTCTCTGTACTTT	0.358													ENSG00000205494																																					0													26.0	27.0	27.0					11																	5142855		2194	4283	6477			0			-			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142855C>T				R	SNP	-	NULL	ENST00000498233.1	37	NULL		11																																																																																			-	OR52A4	-	-		0.358	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	0	0	0	53	53	89	0.00	0.00	C	NG_029079		5142855	-1	10	49	8	24	tier1	no_errors	ENST00000481634	ensembl	human	known	74_37	rna	55.56	67.12	SNP	0.003	T	10	8
RBM11	54033	genome.wustl.edu	37	21	15599387	15599387	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:15599387C>T	ENST00000400577.3	+	5	628	c.619C>T	c.(619-621)Cct>Tct	p.P207S	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	207					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGCTCCACTTCCTAATAGTGC	0.458													ENSG00000185272																																					0													342.0	321.0	328.0					21																	15599387		1980	4157	6137	SO:0001583	missense	0			-	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.619C>T	21.37:g.15599387C>T	ENSP00000383421:p.Pro207Ser		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P207S	ENST00000400577.3	37	c.619	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983167	0.18889	.	.	ENSG00000185272	ENST00000400577	T	0.10099	2.91	3.54	1.45	0.22620	.	.	.	.	.	T	0.03651	0.0104	N	0.14661	0.345	0.19575	N	0.999968	P	0.48764	0.915	B	0.36666	0.23	T	0.12734	-1.0536	9	0.07482	T	0.82	.	2.6638	0.05034	0.2281:0.517:0.0:0.2549	.	207	P57052	RBM11_HUMAN	S	207	ENSP00000383421:P207S	ENSP00000383421:P207S	P	+	1	0	RBM11	14521258	0.044000	0.20184	0.945000	0.38365	0.412000	0.31113	0.112000	0.15479	0.773000	0.33404	-0.259000	0.10710	CCT	-	RBM11	-	NULL		0.458	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	0	0	0	120	120	166	0.00	0.00	C	NM_144770		15599387	+1	47	47	74	60	tier1	no_errors	ENST00000400577	ensembl	human	known	74_37	missense	38.84	43.93	SNP	0.552	T	47	74
LRRC74A	145497	genome.wustl.edu	37	14	77323731	77323731	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:77323731G>A	ENST00000393774.3	+	10	1141	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L		NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGCTTTTCCTGAATCCCATAA	0.448													ENSG00000100565																									Ovarian(165;1056 1958 32571 36789 48728)												0													60.0	55.0	56.0					14																	77323731		1895	4109	6004	SO:0001819	synonymous_variant	0			-																												ENST00000393774.3:c.1017G>A	14.37:g.77323731G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L339	ENST00000393774.3	37	c.1017	CCDS9853.2	14																																																																																			-	C14orf166B	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.448	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	HGNC	protein_coding	OTTHUMT00000316592.1	0	0	0	45	45	92	0.00	0.00	G			77323731	+1	23	36	26	67	tier1	no_errors	ENST00000393774	ensembl	human	known	74_37	silent	46.94	34.62	SNP	0.967	A	23	26
SLC37A1	54020	genome.wustl.edu	37	21	43982044	43982044	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43982044C>T	ENST00000352133.2	+	12	1963				SLC37A1_ENST00000398341.3_Intron|AP001625.6_ENST00000442605.1_RNA			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1						carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CAGCACCCTCCCCAGTACGTG	0.587													ENSG00000235772																																					0																																										SO:0001627	intron_variant	0			-	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.982-144C>T	21.37:g.43982044C>T			D3DSJ7|Q9HAQ1	R	SNP	-	NULL	ENST00000352133.2	37	NULL	CCDS13689.1	21																																																																																			-	AP001625.6	-	-		0.587	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000235772	Clone_based_vega_gene	protein_coding	OTTHUMT00000195377.1	0	0	0	22	22	47	0.00	0.00	C			43982044	-1	5	16	10	38	tier1	no_errors	ENST00000442605	ensembl	human	known	74_37	rna	33.33	29.63	SNP	0.001	T	5	10
SCN10A	6336	genome.wustl.edu	37	3	38835493	38835493	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38835493G>A	ENST00000449082.2	-	1	8	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	3					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATCCAATGGGGAATTCCATCT	0.468													ENSG00000185313																																					0													141.0	144.0	143.0					3																	38835493		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.9C>T	3.37:g.38835493G>A			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.F3	ENST00000449082.2	37	c.9	CCDS33736.1	3																																																																																			-	SCN10A	-	NULL		0.468	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	0	0	0	20	20	127	0.00	0.00	G	NM_006514		38835493	-1	10	46	19	78	tier1	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	34.48	37.10	SNP	0.673	A	10	19
LTN1	26046	genome.wustl.edu	37	21	30303544	30303544	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:30303544C>T	ENST00000361371.5	-	29	5250	c.5171G>A	c.(5170-5172)gGt>gAt	p.G1724D	LTN1_ENST00000389194.2_Missense_Mutation_p.G1770D			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1724					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATAGTTGAAACCGTGAATGAC	0.353													ENSG00000198862																																					0													138.0	134.0	135.0					21																	30303544		2203	4300	6503	SO:0001583	missense	0			-	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5171G>A	21.37:g.30303544C>T	ENSP00000354977:p.Gly1724Asp		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.G1770D	ENST00000361371.5	37	c.5309		21	.	.	.	.	.	.	.	.	.	.	C	33	5.223163	0.95139	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.66099	-0.19;-0.19	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	N	0.10664	0.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65977	-0.6037	10	0.30854	T	0.27	.	19.1643	0.93548	0.0:1.0:0.0:0.0	.	1724	O94822	LTN1_HUMAN	D	1770;1724	ENSP00000373846:G1770D;ENSP00000354977:G1724D	ENSP00000354977:G1724D	G	-	2	0	LTN1	29225415	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.259000	0.78381	2.758000	0.94735	0.591000	0.81541	GGT	-	LTN1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING		0.353	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	0	0	0	111	111	129	0.00	0.00	C	NM_015565		30303544	-1	18	39	71	85	tier1	no_errors	ENST00000389194	ensembl	human	known	74_37	missense	20.22	31.20	SNP	1.000	T	18	71
A2M	2	genome.wustl.edu	37	12	9266087	9266087	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:9266087C>T	ENST00000318602.7	-	2	446	c.139G>A	c.(139-141)Ggc>Agc	p.G47S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	47					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGGACACAGCCCTTCTCAGTG	0.532													ENSG00000175899																																					0													138.0	141.0	140.0					12																	9266087		2203	4300	6503	SO:0001583	missense	0			-	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.139G>A	12.37:g.9266087C>T	ENSP00000323929:p.Gly47Ser		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.G47S	ENST00000318602.7	37	c.139	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	5.728	0.318853	0.10845	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	T;T	0.06849	3.25;3.25	4.74	2.89	0.33648	TonB box, conserved site (1);	1.083580	0.07091	N	0.838792	T	0.07683	0.0193	L	0.38175	1.15	0.25614	N	0.98647	B	0.12013	0.005	B	0.06405	0.002	T	0.42103	-0.9471	10	0.27785	T	0.31	.	6.118	0.20137	0.1854:0.7166:0.0:0.098	.	47	P01023	A2MG_HUMAN	S	47;62;47	ENSP00000323929:G47S;ENSP00000385710:G47S	ENSP00000323929:G47S	G	-	1	0	A2M	9157354	0.000000	0.05858	0.793000	0.32043	0.374000	0.29953	0.016000	0.13377	0.530000	0.28619	-0.158000	0.13435	GGC	-	A2M	-	NULL		0.532	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	0	0	0	70	70	27	0.00	0.00	C	NM_000014		9266087	-1	17	7	20	15	tier1	no_errors	ENST00000318602	ensembl	human	known	74_37	missense	45.95	31.82	SNP	0.783	T	17	20
MEI4	101928601	genome.wustl.edu	37	6	78632890	78632890	+	Missense_Mutation	SNP	G	G	A	rs564775849	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:78632890G>A	ENST00000602452.2	+	4	999	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001282136.1	NP_001269065.1	A8MW99	MEI4L_HUMAN	meiosis-specific 4 homolog (S. cerevisiae)	329					DNA recombination (GO:0006310)|meiotic DNA double-strand break formation (GO:0042138)|oogenesis (GO:0048477)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	lateral element (GO:0000800)											AAAGGAAACCGAAGAAGGCAA	0.383													ENSG00000269964	G|||	2	0.000399361	0.0	0.0	5008	,	,		15797	0.002		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			-		CCDS64463.1	6q14.1	2014-08-13			ENSG00000269964	ENSG00000269964			43638	protein-coding gene	gene with protein product						20551173	Standard	XM_005248773		Approved			A8MW99	OTTHUMG00000153472	ENST00000602452.2:c.985G>A	6.37:g.78632890G>A	ENSP00000473370:p.Glu329Lys		R4GMV8	Missense_Mutation	SNP	NULL	p.E329K	ENST00000602452.2	37	c.985		6																																																																																			-	MEI4	-	NULL		0.383	MEI4-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	MEI4	HGNC	protein_coding	OTTHUMT00000331298.2	0	0	0	110	110	145	0.00	0.00	G			78632890	+1	37	29	66	89	tier1	no_errors	ENST00000602452	ensembl	human	novel	74_37	missense	35.92	24.58	SNP	0.000	A	37	66
CR1L	1379	genome.wustl.edu	37	1	207883864	207883864	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:207883864G>A	ENST00000508064.2	+	10	1474				CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAGCTCGTGGGTGAGCCCTC	0.483													ENSG00000197721																																					0																																										SO:0001627	intron_variant	0			-	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1414+2256G>A	1.37:g.207883864G>A			Q32MC9|Q8NEU7	R	SNP	-	NULL	ENST00000508064.2	37	NULL	CCDS44310.1	1																																																																																			-	CR1L	-	-		0.483	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	0	0	0	133	133	19	0.00	0.00	G	XM_114735		207883864	+1	31	3	97	10	tier1	no_errors	ENST00000530905	ensembl	human	known	74_37	rna	24.22	23.08	SNP	0.010	A	31	97
OR6C6	283365	genome.wustl.edu	37	12	55688164	55688164	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55688164G>A	ENST00000358433.2	-	1	852	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAATGAAGGGATTTAGTAAA	0.348													ENSG00000188324																																					0													73.0	80.0	78.0					12																	55688164		2202	4299	6501	SO:0001583	missense	0			-		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.853C>T	12.37:g.55688164G>A	ENSP00000351211:p.Pro285Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P285S	ENST00000358433.2	37	c.853	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	16.14	3.040207	0.55003	.	.	ENSG00000188324	ENST00000358433	T	0.63417	-0.04	4.33	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000138	T	0.75384	0.3842	M	0.79123	2.44	0.34674	D	0.723981	D	0.89917	1.0	D	0.97110	1.0	T	0.80308	-0.1437	10	0.66056	D	0.02	.	8.531	0.33335	0.0827:0.0:0.7643:0.1531	.	285	A6NF89	OR6C6_HUMAN	S	285	ENSP00000351211:P285S	ENSP00000351211:P285S	P	-	1	0	OR6C6	53974431	1.000000	0.71417	0.929000	0.37066	0.944000	0.59088	3.587000	0.53957	0.547000	0.28938	0.644000	0.83932	CCC	-	OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.348	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	0	0	0	97	97	98	0.00	0.00	G			55688164	-1	20	17	52	44	tier1	no_errors	ENST00000358433	ensembl	human	known	74_37	missense	27.78	27.87	SNP	1.000	A	20	52
CCDC170	80129	genome.wustl.edu	37	6	151894524	151894524	+	Silent	SNP	C	C	T	rs377676781		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:151894524C>T	ENST00000239374.7	+	6	1089	c.990C>T	c.(988-990)atC>atT	p.I330I	CCDC170_ENST00000367290.5_Silent_p.I330I	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	330																	GGGAGAAAATCGCAGCCCTCC	0.498													ENSG00000120262																																					0								C		1,3959		0,1,1979	77.0	82.0	80.0		990	-3.4	0.0	6		80	0,8278		0,0,4139	no	coding-synonymous	C6orf97	NM_025059.3		0,1,6118	TT,TC,CC		0.0,0.0253,0.0082		330/716	151894524	1,12237	1980	4139	6119	SO:0001819	synonymous_variant	0			-	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.990C>T	6.37:g.151894524C>T			Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.I330	ENST00000239374.7	37	c.990	CCDS43515.1	6																																																																																			-	CCDC170	-	NULL		0.498	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	0	0	0	55	55	100	0.00	0.00	C	NM_025059		151894524	+1	12	17	37	50	tier1	no_errors	ENST00000367290	ensembl	human	known	74_37	silent	24.49	25.37	SNP	0.001	T	12	37
CATSPERB	79820	genome.wustl.edu	37	14	92058283	92058283	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:92058283C>T	ENST00000256343.3	-	23	2929	c.2773G>A	c.(2773-2775)Gat>Aat	p.D925N		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	925					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACTTCTGATCCTTTGTGCAG	0.363													ENSG00000133962																																					0													166.0	163.0	164.0					14																	92058283		2203	4300	6503	SO:0001583	missense	0			-	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2773G>A	14.37:g.92058283C>T	ENSP00000256343:p.Asp925Asn		A0AV51	Missense_Mutation	SNP	superfamily_Sialidases	p.D925N	ENST00000256343.3	37	c.2773	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	6.162	0.398020	0.11696	.	.	ENSG00000133962	ENST00000256343	T	0.41758	0.99	5.27	-4.17	0.03857	.	0.537351	0.16890	N	0.195348	T	0.18045	0.0433	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07673	-1.0760	10	0.29301	T	0.29	-5.0407	1.9382	0.03341	0.3275:0.1895:0.3373:0.1457	.	925	Q9H7T0	CTSRB_HUMAN	N	925	ENSP00000256343:D925N	ENSP00000256343:D925N	D	-	1	0	CATSPERB	91128036	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	-0.792000	0.04594	-1.011000	0.03391	-1.889000	0.00537	GAT	-	CATSPERB	-	NULL		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	0	0	0	99	99	116	0.00	0.00	C	NM_024764		92058283	-1	38	20	102	93	tier1	no_errors	ENST00000256343	ensembl	human	known	74_37	missense	27.14	17.70	SNP	0.000	T	38	102
UROC1	131669	genome.wustl.edu	37	3	126236446	126236446	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:126236446C>T	ENST00000290868.2	-	1	170	c.117G>A	c.(115-117)gtG>gtA	p.V39V	UROC1_ENST00000383579.3_Silent_p.V39V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	39					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTGTTTCTCCACAGGGCTGA	0.677													ENSG00000159650																																					0													28.0	29.0	29.0					3																	126236446		2199	4286	6485	SO:0001819	synonymous_variant	0			-	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.117G>A	3.37:g.126236446C>T			E9PE13|Q14C64|Q68CJ7	Silent	SNP	pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase	p.V39	ENST00000290868.2	37	c.117	CCDS3038.1	3																																																																																			-	UROC1	-	NULL		0.677	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	0	0	0	171	171	35	0.00	0.00	C	NM_144639		126236446	-1	66	8	83	14	tier1	no_errors	ENST00000290868	ensembl	human	known	74_37	silent	44.30	36.36	SNP	0.000	T	66	83
MSGN1	343930	genome.wustl.edu	37	2	17997809	17997809	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:17997809C>T	ENST00000281047.3	+	1	47	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	8					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCGAGACTTTCCTCAGCCTCG	0.602													ENSG00000151379																									Melanoma(127;325 1712 14802 40657 49130)												0													32.0	34.0	33.0					2																	17997809		1943	4164	6107	SO:0001819	synonymous_variant	0			-		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.24C>T	2.37:g.17997809C>T				Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.F8	ENST00000281047.3	37	c.24	CCDS42657.1	2																																																																																			-	MSGN1	-	NULL		0.602	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MSGN1	HGNC	protein_coding	OTTHUMT00000353253.1	0	0	0	30	30	22	0.00	0.00	C	XM_292850		17997809	+1	7	4	24	17	tier1	no_errors	ENST00000281047	ensembl	human	known	74_37	silent	22.58	19.05	SNP	0.501	T	7	24
PITRM1	10531	genome.wustl.edu	37	10	3180243	3180243	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:3180243G>A	ENST00000224949.4	-	27	3128	c.3094C>T	c.(3094-3096)Cca>Tca	p.P1032S	PITRM1_ENST00000380989.2_Missense_Mutation_p.P1033S|PITRM1_ENST00000451104.2_Missense_Mutation_p.P934S|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.P590S			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	1032					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATCCAGGATGGGTCCTTGGCA	0.572													ENSG00000107959																																					0													56.0	59.0	58.0					10																	3180243		2057	4194	6251	SO:0001583	missense	0			-	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.3094C>T	10.37:g.3180243G>A	ENSP00000224949:p.Pro1032Ser		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.P1033S	ENST00000224949.4	37	c.3097	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	g	14.01	2.408912	0.42715	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.83	4.93	0.64822	.	0.046469	0.85682	N	0.000000	T	0.53270	0.1786	L	0.35854	1.095	0.58432	D	0.999992	B;P;B	0.37663	0.409;0.604;0.335	B;B;B	0.35688	0.082;0.135;0.208	T	0.49560	-0.8927	10	0.12103	T	0.63	-27.1478	13.2844	0.60235	0.0732:0.0:0.9268:0.0	.	934;1032;967	E7ES23;Q5JRX3;E9PDX7	.;PREP_HUMAN;.	S	1032;1025;1033;590;934	ENSP00000224949:P1032S;ENSP00000370377:P1033S;ENSP00000370382:P590S;ENSP00000401201:P934S	ENSP00000224949:P1032S	P	-	1	0	PITRM1	3170243	1.000000	0.71417	0.871000	0.34182	0.004000	0.04260	7.838000	0.86804	1.475000	0.48197	-0.258000	0.10820	CCA	-	PITRM1	-	NULL		0.572	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	0	0	0	21	21	85	0.00	0.00	G			3180243	-1	6	31	23	61	tier1	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	20.69	32.98	SNP	1.000	A	6	23
TRIM27	5987	genome.wustl.edu	37	6	28872289	28872289	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28872289A>T	ENST00000377199.3	-	8	1456	c.1100T>A	c.(1099-1101)aTc>aAc	p.I367N	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCTCCCGGCGATGAAGCATGG	0.522			T	RET	papillary thyroid								ENSG00000204713																												Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													71.0	71.0	71.0					6																	28872289		1511	2709	4220	SO:0001583	missense	0			-	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1100T>A	6.37:g.28872289A>T	ENSP00000366404:p.Ile367Asn		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.I367N	ENST00000377199.3	37	c.1100	CCDS4654.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.45|13.45	2.240170|2.240170	0.39598|0.39598	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000414543|ENST00000377199	.|T	.|0.60548	.|0.18	4.89|4.89	3.62|3.62	0.41486|0.41486	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.|0.127308	.|0.37393	.|N	.|0.002105	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.03115|0.03115	-0.41|-0.41	0.80722|0.80722	D|D	1|1	.|B	.|0.31290	.|0.318	.|B	.|0.27608	.|0.081	T|T	0.06409|0.06409	-1.0828|-1.0828	5|10	.|0.31617	.|T	.|0.26	.|.	5.2363|5.2363	0.15448|0.15448	0.6416:0.1827:0.0:0.1757|0.6416:0.1827:0.0:0.1757	.|.	.|367	.|P14373	.|TRI27_HUMAN	Q|N	101|367	.|ENSP00000366404:I367N	.|ENSP00000366404:I367N	H|I	-|-	3|2	2|0	TRIM27|TRIM27	28980268|28980268	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.049000|0.049000	0.14099|0.14099	2.131000|2.131000	0.65755|0.65755	0.528000|0.528000	0.53228|0.53228	CAT|ATC	-	TRIM27	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.522	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	0	0	1	81	81	143	0.00	0.69	A	NM_030950		28872289	-1	24	34	47	70	tier1	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	33.80	32.38	SNP	0.999	T	24	47
RAD18	56852	genome.wustl.edu	37	3	8983159	8983159	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:8983159A>G	ENST00000264926.2	-	5	712	c.596T>C	c.(595-597)gTt>gCt	p.V199A	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	199					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		ACCTTTAGTAACTTGTTTCAA	0.433								Rad6 pathway					ENSG00000070950																																					0													35.0	33.0	34.0					3																	8983159		2203	4300	6503	SO:0001583	missense	0			-		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.596T>C	3.37:g.8983159A>G	ENSP00000264926:p.Val199Ala		Q58F55|Q9NRT6	Missense_Mutation	SNP	pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom	p.V199A	ENST00000264926.2	37	c.596	CCDS2571.1	3	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.492459	0.01009	.	.	ENSG00000070950	ENST00000264926	T	0.22539	1.95	5.12	1.02	0.19986	.	0.951981	0.08805	N	0.891116	T	0.15522	0.0374	L	0.55834	1.745	0.09310	N	1	B	0.20780	0.048	B	0.17433	0.018	T	0.41270	-0.9518	10	0.08837	T	0.75	-1.0047	2.9473	0.05850	0.5645:0.0:0.1925:0.2429	.	199	Q9NS91	RAD18_HUMAN	A	199	ENSP00000264926:V199A	ENSP00000264926:V199A	V	-	2	0	RAD18	8958159	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.158000	0.16422	0.004000	0.14682	0.533000	0.62120	GTT	-	RAD18	-	NULL		0.433	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	HGNC	protein_coding	OTTHUMT00000207071.2	0	0	0	75	75	97	0.00	0.00	A	NM_020165		8983159	-1	17	24	57	78	tier1	no_errors	ENST00000264926	ensembl	human	known	74_37	missense	22.97	23.53	SNP	0.001	G	17	57
EBF2	64641	genome.wustl.edu	37	8	25747297	25747297	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:25747297C>T	ENST00000520164.1	-	8	1259	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	EBF2_ENST00000535548.1_5'Flank|EBF2_ENST00000408929.3_Missense_Mutation_p.R93Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	241					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTTGCTCTCCGTCCATGCTT	0.458													ENSG00000221818																									Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													111.0	104.0	106.0					8																	25747297		2010	4192	6202	SO:0001583	missense	0			-	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.722G>A	8.37:g.25747297C>T	ENSP00000430241:p.Arg241Gln		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.R241Q	ENST00000520164.1	37	c.722	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643072	0.87859	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.55234	0.57;0.53	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.68751	0.3035	M	0.87269	2.87	0.80722	D	1	D	0.65815	0.995	P	0.48840	0.592	T	0.76361	-0.2987	10	0.87932	D	0	-16.1316	19.6778	0.95943	0.0:1.0:0.0:0.0	.	241	Q9HAK2	COE2_HUMAN	Q	241;93	ENSP00000430241:R241Q;ENSP00000386178:R93Q	ENSP00000386178:R93Q	R	-	2	0	EBF2	25803214	1.000000	0.71417	0.998000	0.56505	0.593000	0.36681	7.818000	0.86416	2.663000	0.90544	0.655000	0.94253	CGG	-	EBF2	-	NULL		0.458	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	0	0	0	49	49	81	0.00	0.00	C	NM_022659		25747297	-1	22	23	17	14	tier1	no_errors	ENST00000520164	ensembl	human	known	74_37	missense	56.41	62.16	SNP	1.000	T	22	17
AKAP4	8852	genome.wustl.edu	37	X	49957156	49957156	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:49957156G>A	ENST00000376056.2	-	5	2331	c.2181C>T	c.(2179-2181)ttC>ttT	p.F727F	AKAP4_ENST00000376058.2_Silent_p.F353F|AKAP4_ENST00000376064.3_Silent_p.F727F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.F736F					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGGTGCCCCTGAAATTGGGCT	0.463													ENSG00000147081																																					0													95.0	65.0	75.0					X																	49957156		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2181C>T	X.37:g.49957156G>A				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.F736	ENST00000376056.2	37	c.2208	CCDS14330.1	X																																																																																			-	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	0	0	0	22	22	49	0.00	0.00	G	NM_003886		49957156	-1	11	35	2	12	tier1	no_errors	ENST00000358526	ensembl	human	known	74_37	silent	84.62	74.47	SNP	0.000	A	11	2
MUC16	94025	genome.wustl.edu	37	19	9070805	9070805	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:9070805C>T	ENST00000397910.4	-	3	16844	c.16641G>A	c.(16639-16641)atG>atA	p.M5547I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5549	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCTGGTGATCATTCCTGTGG	0.502													ENSG00000181143																																					0													222.0	204.0	209.0					19																	9070805		1999	4149	6148	SO:0001583	missense	0			-	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16641G>A	19.37:g.9070805C>T	ENSP00000381008:p.Met5547Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.M5547I	ENST00000397910.4	37	c.16641	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	2.494	-0.316665	0.05386	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	1.45	-2.9	0.05648	.	.	.	.	.	T	0.00906	0.0030	N	0.01874	-0.695	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.47195	-0.9136	8	0.87932	D	0	.	0.8537	0.01178	0.1854:0.2913:0.3333:0.19	.	5547	B5ME49	.	I	5547	ENSP00000381008:M5547I	ENSP00000381008:M5547I	M	-	3	0	MUC16	8931805	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.584000	0.00904	-1.159000	0.02807	0.299000	0.19835	ATG	-	MUC16	-	NULL		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0	0	55	55	133	0.00	0.00	C	NM_024690		9070805	-1	32	81	13	37	tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	71.11	68.07	SNP	0.000	T	32	13
MMP20	9313	genome.wustl.edu	37	11	102487583	102487583	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:102487583G>A	ENST00000260228.2	-	2	346	c.334C>T	c.(334-336)Cct>Tct	p.P112S	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	110					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGTTCACCAGGGAAGAGGCGA	0.443													ENSG00000137674																																					0													114.0	98.0	104.0					11																	102487583		2203	4299	6502	SO:0001583	missense	0			-	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.334C>T	11.37:g.102487583G>A	ENSP00000260228:p.Pro112Ser		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.P112S	ENST00000260228.2	37	c.334	CCDS8318.1	11	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183510	0.57800	.	.	ENSG00000137674	ENST00000260228	T	0.51325	0.71	5.09	5.09	0.68999	Metallopeptidase, catalytic domain (1);	0.219821	0.46145	D	0.000305	T	0.65616	0.2708	M	0.86502	2.82	0.44890	D	0.997908	P	0.44090	0.826	P	0.48815	0.591	T	0.72564	-0.4255	10	0.72032	D	0.01	.	18.6636	0.91479	0.0:0.0:1.0:0.0	.	112	O60882	MMP20_HUMAN	S	112	ENSP00000260228:P112S	ENSP00000260228:P112S	P	-	1	0	MMP20	101992793	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.322000	0.33689	2.804000	0.96469	0.655000	0.94253	CCT	-	MMP20	-	pirsf_Pept_M10A_Metazoans		0.443	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP20	HGNC	protein_coding	OTTHUMT00000398012.1	0	0	0	58	58	145	0.00	0.00	G			102487583	-1	32	66	24	65	tier1	no_errors	ENST00000260228	ensembl	human	known	74_37	missense	57.14	50.38	SNP	1.000	A	32	24
EXPH5	23086	genome.wustl.edu	37	11	108384720	108384720	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:108384720C>T	ENST00000265843.4	-	6	1624	c.1514G>A	c.(1513-1515)aGa>aAa	p.R505K	EXPH5_ENST00000428840.1_Missense_Mutation_p.R429K|EXPH5_ENST00000525344.1_Missense_Mutation_p.R498K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Missense_Mutation_p.R317K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	505					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCAAAGTCTCTGTCAGAAGA	0.408													ENSG00000110723																																					0													68.0	69.0	69.0					11																	108384720		2201	4297	6498	SO:0001583	missense	0			-		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1514G>A	11.37:g.108384720C>T	ENSP00000265843:p.Arg505Lys		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.R505K	ENST00000265843.4	37	c.1514	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187205	0.38609	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04194	4.26;4.19;4.04;4.26;4.1;3.68	5.98	5.07	0.68467	.	0.560494	0.18422	N	0.141706	T	0.04497	0.0123	L	0.46741	1.465	0.22240	N	0.99926	B	0.28350	0.208	B	0.25759	0.063	T	0.39941	-0.9589	10	0.07644	T	0.81	-5.6175	7.9966	0.30271	0.0:0.7531:0.1609:0.086	.	505	Q8NEV8	EXPH5_HUMAN	K	505;429;317;498;349;429;317	ENSP00000265843:R505K;ENSP00000391966:R429K;ENSP00000411390:R317K;ENSP00000432546:R498K;ENSP00000432683:R429K;ENSP00000446434:R317K	ENSP00000265843:R505K	R	-	2	0	EXPH5	107889930	0.991000	0.36638	0.998000	0.56505	0.889000	0.51656	0.839000	0.27586	1.509000	0.48786	0.591000	0.81541	AGA	-	EXPH5	-	NULL		0.408	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	0	0	0	43	43	125	0.00	0.00	C	NM_015065		108384720	-1	41	60	25	48	tier1	no_errors	ENST00000265843	ensembl	human	known	74_37	missense	62.12	55.05	SNP	0.997	T	41	25
INF2	64423	genome.wustl.edu	37	14	105185251	105185251	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:105185251C>T	ENST00000392634.4	+	0	3983				INF2_ENST00000481338.1_3'UTR|INF2_ENST00000330634.7_3'UTR	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing						actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		ACCAAAACTCCGTGCCTTACC	0.662													ENSG00000203485																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.*121C>T	14.37:g.105185251C>T			Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	R	SNP	-	NULL	ENST00000392634.4	37	NULL	CCDS9989.2	14																																																																																			-	INF2	-	-		0.662	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	0	0	0	56	56	47	0.00	0.00	C	NM_022489		105185251	+1	20	21	35	30	tier1	no_errors	ENST00000481338	ensembl	human	known	74_37	rna	36.36	41.18	SNP	0.107	T	20	35
MTPAP	55149	genome.wustl.edu	37	10	30602582	30602582	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:30602582A>G	ENST00000263063.4	-	9	1748	c.1705T>C	c.(1705-1707)Ttc>Ctc	p.F569L	MTPAP_ENST00000358107.4_Missense_Mutation_p.F699L|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	569					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTTTTTGTGAAATTTTCTGTT	0.363													ENSG00000107951																																					0													159.0	156.0	157.0					10																	30602582		2203	4300	6503	SO:0001583	missense	0			-	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1705T>C	10.37:g.30602582A>G	ENSP00000263063:p.Phe569Leu		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	pfam_PAP_assoc	p.F699L	ENST00000263063.4	37	c.2095	CCDS7165.1	10	.	.	.	.	.	.	.	.	.	.	A	4.962	0.178677	0.09443	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.27890	2.33;1.64	5.64	-7.89	0.01174	.	2.144910	0.01557	N	0.019938	T	0.16171	0.0389	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.16247	-1.0409	10	0.11794	T	0.64	1.9274	8.4025	0.32594	0.2625:0.4015:0.336:0.0	.	699;569	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	L	699;569	ENSP00000350820:F699L;ENSP00000263063:F569L	ENSP00000263063:F569L	F	-	1	0	MTPAP	30642588	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.569000	0.05902	-1.897000	0.01101	-0.408000	0.06270	TTC	-	MTPAP	-	NULL		0.363	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	HGNC	protein_coding	OTTHUMT00000047426.2	0	0	0	142	142	157	0.00	0.00	A	NM_018109		30602582	-1	62	61	93	103	tier1	no_errors	ENST00000358107	ensembl	human	known	74_37	missense	40.00	36.75	SNP	0.000	G	62	93
TMEM132C	92293	genome.wustl.edu	37	12	129190240	129190240	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:129190240G>A	ENST00000435159.2	+	9	2727	c.2727G>A	c.(2725-2727)gaG>gaA	p.E909E	TMEM132C_ENST00000537538.1_Silent_p.E294E|TMEM132C_ENST00000315208.8_Silent_p.E525E	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	909						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GTGGGCTGGAGGAAAACGACC	0.637													ENSG00000181234																																					0													19.0	27.0	24.0					12																	129190240		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2727G>A	12.37:g.129190240G>A			Q69YX8	Silent	SNP	NULL	p.E909	ENST00000435159.2	37	c.2727		12																																																																																			-	TMEM132C	-	NULL		0.637	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		0	0	0	67	67	53	0.00	0.00	G	XM_044062		129190240	+1	10	11	33	25	tier1	no_errors	ENST00000435159	ensembl	human	known	74_37	silent	23.26	30.56	SNP	0.998	A	10	33
ARRDC5	645432	genome.wustl.edu	37	19	4891307	4891307	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:4891307G>A	ENST00000381781.2	-	3	779	c.780C>T	c.(778-780)acC>acT	p.T260T	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	260										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGTTGAAGCGGGTCACGGGGG	0.622													ENSG00000205784																																					0													80.0	93.0	89.0					19																	4891307		2110	4214	6324	SO:0001819	synonymous_variant	0			-		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.780C>T	19.37:g.4891307G>A				Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.T260	ENST00000381781.2	37	c.780	CCDS45929.1	19																																																																																			-	ARRDC5	-	pfam_Arrestin_C-like,superfamily_Ig_E-set		0.622	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	HGNC	protein_coding	OTTHUMT00000450443.1	0	0	0	36	36	51	0.00	0.00	G	XM_292803		4891307	-1	21	28	8	13	tier1	no_errors	ENST00000381781	ensembl	human	known	74_37	silent	72.41	68.29	SNP	0.000	A	21	8
RPL13A	23521	genome.wustl.edu	37	19	49990766	49990766	+	5'Flank	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49990766C>T	ENST00000391857.4	+	0	0				CTD-3148I10.15_ENST00000595815.1_RNA|SNORD32A_ENST00000364805.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a						cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CAGAACGCTTCGACCAATGAA	0.597													ENSG00000273189																																					0																																										SO:0001631	upstream_gene_variant	0			-	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289		19.37:g.49990766C>T	Exception_encountered		A8K505	R	SNP	-	NULL	ENST00000391857.4	37	NULL	CCDS12768.1	19																																																																																			-	CTD-3148I10.15	-	-		0.597	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273189	Clone_based_vega_gene	protein_coding	OTTHUMT00000258989.1	0	0	0	67	67	38	0.00	0.00	C			49990766	+1	26	6	63	35	tier1	no_errors	ENST00000595815	ensembl	human	known	74_37	rna	29.21	14.63	SNP	0.000	T	26	63
CHD6	84181	genome.wustl.edu	37	20	40162001	40162001	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:40162001C>T	ENST00000373233.3	-	3	419	c.242G>A	c.(241-243)gGg>gAg	p.G81E	CHD6_ENST00000309279.7_Missense_Mutation_p.G81E|CHD6_ENST00000373222.3_Missense_Mutation_p.G116E	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	81	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.G81E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCCTCCATCCCATTATGGGA	0.488													ENSG00000124177																																					1	Substitution - Missense(1)	skin(1)											122.0	110.0	114.0					20																	40162001		2203	4300	6503	SO:0001583	missense	0			-	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.242G>A	20.37:g.40162001C>T	ENSP00000362330:p.Gly81Glu		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G81E	ENST00000373233.3	37	c.242	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056307	0.76074	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;T	0.94931	-2.04;-3.56;-1.49	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000009	D	0.95692	0.8599	L	0.34521	1.04	0.52501	D	0.999959	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.96	D	0.95601	0.8663	10	0.49607	T	0.09	-21.9848	19.6817	0.95967	0.0:1.0:0.0:0.0	.	116;81	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	E	81;81;116;81	ENSP00000362330:G81E;ENSP00000308684:G81E;ENSP00000362319:G116E	ENSP00000308684:G81E	G	-	2	0	CHD6	39595415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.101000	0.57769	2.653000	0.90120	0.650000	0.86243	GGG	-	CHD6	-	NULL		0.488	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	0	0	0	95	95	102	0.00	0.00	C			40162001	-1	36	32	49	75	tier1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	42.35	29.36	SNP	1.000	T	36	49
SPTB	6710	genome.wustl.edu	37	14	65240025	65240025	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:65240025C>T	ENST00000389721.5	-	24	5123	c.5091G>A	c.(5089-5091)cgG>cgA	p.R1697R	SPTB_ENST00000389722.3_Silent_p.R1697R|SPTB_ENST00000542895.1_Silent_p.R1697R|SPTB_ENST00000389720.3_Silent_p.R1697R|SPTB_ENST00000556626.1_Silent_p.R1697R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1697					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGTCGGTCTCCCGCTTGAGCT	0.572													ENSG00000070182																																					0													120.0	101.0	108.0					14																	65240025		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5091G>A	14.37:g.65240025C>T			Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1697	ENST00000389721.5	37	c.5091	CCDS32100.1	14																																																																																			-	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.572	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	0	0	0	61	61	73	0.00	0.00	C			65240025	-1	25	22	29	40	tier1	no_errors	ENST00000389722	ensembl	human	known	74_37	silent	46.30	34.92	SNP	0.962	T	25	29
SLC7A9	11136	genome.wustl.edu	37	19	33333197	33333197	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:33333197G>A	ENST00000023064.4	-	11	1292	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	SLC7A9_ENST00000587772.1_Silent_p.I367I|SLC7A9_ENST00000590341.1_Silent_p.I367I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	367					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TGTCACCAGGGATGATATAAA	0.393													ENSG00000021488																									GBM(181;1335 2108 9644 44178 46689)												0													102.0	98.0	99.0					19																	33333197		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1101C>T	19.37:g.33333197G>A			B2R9A6	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.I367	ENST00000023064.4	37	c.1101	CCDS12425.1	19																																																																																			-	SLC7A9	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.393	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	0	0	0	76	76	106	0.00	0.00	G			33333197	-1	35	46	47	83	tier1	no_errors	ENST00000023064	ensembl	human	known	74_37	silent	42.68	35.66	SNP	0.978	A	35	47
NLRP3	114548	genome.wustl.edu	37	1	247587615	247587615	+	Silent	SNP	C	C	T	rs200900704		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:247587615C>T	ENST00000336119.3	+	3	1616	c.870C>T	c.(868-870)atC>atT	p.I290I	NLRP3_ENST00000366497.2_Silent_p.I290I|NLRP3_ENST00000391827.2_Silent_p.I290I|NLRP3_ENST00000391828.3_Silent_p.I290I|NLRP3_ENST00000366496.2_Silent_p.I290I|NLRP3_ENST00000348069.2_Silent_p.I290I|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	290	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCACAAGATCGTGAGAAAAC	0.562													ENSG00000162711																																					0													71.0	72.0	72.0					1																	247587615		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.870C>T	1.37:g.247587615C>T			B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.I290	ENST00000336119.3	37	c.870	CCDS1632.1	1																																																																																			rs200900704	NLRP3	-	superfamily_P-loop_NTPase,pfscan_CHT_NTPase		0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	0	0	0	43	43	124	0.00	0.00	C	NM_004895		247587615	+1	7	19	27	59	tier1	no_errors	ENST00000336119	ensembl	human	known	74_37	silent	20.59	24.36	SNP	0.043	T	7	27
CKAP4	10970	genome.wustl.edu	37	12	106633620	106633620	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:106633620G>A	ENST00000378026.4	-	2	1127	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	331						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCCTGCTTGAGGCTCACCAGC	0.617													ENSG00000136026																																					0													35.0	36.0	36.0					12																	106633620		2203	4300	6503	SO:0001583	missense	0			-	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.991C>T	12.37:g.106633620G>A	ENSP00000367265:p.Leu331Phe		Q504S5|Q53ES6	Missense_Mutation	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.L331F	ENST00000378026.4	37	c.991	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056514	0.76074	.	.	ENSG00000136026	ENST00000378026	T	0.79033	-1.23	5.58	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	M	0.77103	2.36	0.46521	D	0.999081	D	0.89917	1.0	D	0.87578	0.998	D	0.88375	0.2997	10	0.59425	D	0.04	-19.0995	15.3436	0.74317	0.078:0.0:0.922:0.0	.	331	Q07065	CKAP4_HUMAN	F	331	ENSP00000367265:L331F	ENSP00000367265:L331F	L	-	1	0	CKAP4	105157750	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.631000	0.54280	2.641000	0.89580	0.563000	0.77884	CTC	-	CKAP4	-	NULL		0.617	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	0	0	0	55	55	32	0.00	0.00	G			106633620	-1	13	7	35	21	tier1	no_errors	ENST00000378026	ensembl	human	known	74_37	missense	27.08	25.00	SNP	1.000	A	13	35
DCHS2	54798	genome.wustl.edu	37	4	155191119	155191119	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:155191119C>T	ENST00000357232.4	-	19	5144	c.5145G>A	c.(5143-5145)caG>caA	p.Q1715Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1715	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCATGCTGTCCTGAATTGAGT	0.333													ENSG00000197410																																					0													81.0	80.0	80.0					4																	155191119		2203	4299	6502	SO:0001819	synonymous_variant	0			-	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5145G>A	4.37:g.155191119C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1715	ENST00000357232.4	37	c.5145	CCDS3785.1	4																																																																																			-	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.333	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	0	0	0	205	205	92	0.00	0.00	C	NM_001142552		155191119	-1	83	46	58	16	tier1	no_errors	ENST00000357232	ensembl	human	known	74_37	silent	58.87	74.19	SNP	0.002	T	83	58
MGAM2	93432	genome.wustl.edu	37	7	141897286	141897286	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141897286C>T	ENST00000477922.3	+	41	4773	c.4719C>T	c.(4717-4719)ctC>ctT	p.L1573L																	endometrium(1)|lung(5)	6						TTCCTTATCTCTATACTCTGA	0.468													ENSG00000257743																																					0																																										SO:0001819	synonymous_variant	0			-																												ENST00000477922.3:c.4719C>T	7.37:g.141897286C>T				Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.L1573	ENST00000477922.3	37	c.4719		7																																																																																			-	RP11-1220K2.2	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.468	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	0	0	0	59	59	100	0.00	0.00	C			141897286	+1	9	24	41	54	tier1	no_errors	ENST00000477922	ensembl	human	putative	74_37	silent	17.65	30.77	SNP	0.997	T	9	41
SIM1	6492	genome.wustl.edu	37	6	100898230	100898230	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:100898230G>A	ENST00000369208.3	-	4	1043	c.261C>T	c.(259-261)acC>acT	p.T87T	SIM1_ENST00000262901.4_Silent_p.T87T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	87	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCCATCCAGGGTCTGGGGAG	0.512													ENSG00000112246																																					0													113.0	107.0	109.0					6																	100898230		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.261C>T	6.37:g.100898230G>A			Q5TDP7	Silent	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.T87	ENST00000369208.3	37	c.261	CCDS5045.1	6																																																																																			-	SIM1	-	pfam_PAS_fold,smart_PAS,pfscan_PAS		0.512	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	0	0	0	53	53	130	0.00	0.00	G	NM_005068		100898230	-1	15	30	32	39	tier1	no_errors	ENST00000262901	ensembl	human	known	74_37	silent	31.91	43.48	SNP	0.732	A	15	32
SLCO4C1	353189	genome.wustl.edu	37	5	101631964	101631964	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:101631964C>T	ENST00000310954.6	-	1	289	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGCGCTCTTCATGTCTGGAT	0.617													ENSG00000173930																																					0													59.0	68.0	65.0					5																	101631964		2203	4300	6503	SO:0001582	initiator_codon_variant	0			-	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.3G>A	5.37:g.101631964C>T	ENSP00000309741:p.Met1Ile			Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M1I	ENST00000310954.6	37	c.3	CCDS34205.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189187	0.78789	.	.	ENSG00000173930	ENST00000310954	T	0.38240	1.15	4.11	4.11	0.48088	.	0.533866	0.15692	N	0.249390	T	0.54382	0.1855	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.58612	-0.7606	9	0.87932	D	0	.	13.1695	0.59589	0.0:1.0:0.0:0.0	.	1	Q6ZQN7	SO4C1_HUMAN	I	1	ENSP00000309741:M1I	ENSP00000309741:M1I	M	-	3	0	SLCO4C1	101659863	0.999000	0.42202	0.790000	0.31976	0.110000	0.19582	3.247000	0.51422	2.095000	0.63458	0.591000	0.81541	ATG	-	SLCO4C1	-	NULL		0.617	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	0	0	0	69	69	87	0.00	0.00	C	NM_180991	Missense_Mutation	101631964	-1	29	27	16	16	tier1	no_errors	ENST00000310954	ensembl	human	known	74_37	missense	64.44	62.79	SNP	0.974	T	29	16
TIMELESS	8914	genome.wustl.edu	37	12	56814777	56814777	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:56814777C>T	ENST00000553532.1	-	24	3160	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E1003K|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E501K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCAAGGTTTTCATTTGAAAGG	0.502													ENSG00000111602																																					0													137.0	130.0	132.0					12																	56814777		2203	4300	6503	SO:0001583	missense	0			-	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3010G>A	12.37:g.56814777C>T	ENSP00000450607:p.Glu1004Lys			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E1004K	ENST00000553532.1	37	c.3010	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	C	7.802	0.713810	0.15306	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13089	2.62;2.62;2.62	4.8	-1.85	0.07784	Timeless C-terminal (1);	0.813085	0.11635	N	0.544381	T	0.08492	0.0211	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45086	-0.9285	10	0.07482	T	0.82	-0.0059	7.6839	0.28530	0.0:0.3489:0.4859:0.1652	.	1004	Q9UNS1	TIM_HUMAN	K	1003;1004;501	ENSP00000229201:E1003K;ENSP00000450607:E1004K;ENSP00000450848:E501K	ENSP00000229201:E1004K	E	-	1	0	TIMELESS	55101044	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.120000	0.10660	-0.136000	0.11475	-0.258000	0.10820	GAA	-	TIMELESS	-	pfam_TIMELESS_C		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	0	0	0	48	48	119	0.00	0.00	C	NM_003920		56814777	-1	9	37	18	58	tier1	no_errors	ENST00000553532	ensembl	human	known	74_37	missense	33.33	38.95	SNP	0.000	T	9	18
ZNF165	7718	genome.wustl.edu	37	6	28056768	28056768	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28056768C>T	ENST00000377325.1	+	4	1534	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	326					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAAATCTTTCAAGAGCCCAA	0.368													ENSG00000197279																																					0													45.0	47.0	46.0					6																	28056768		2203	4299	6502	SO:0001819	synonymous_variant	0			-	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.978C>T	6.37:g.28056768C>T				Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.F326	ENST00000377325.1	37	c.978	CCDS4643.1	6																																																																																			-	ZNF165	-	NULL		0.368	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF165	HGNC	protein_coding	OTTHUMT00000040173.1	0	0	0	83	83	122	0.00	0.00	C	NM_003447		28056768	+1	23	38	43	53	tier1	no_errors	ENST00000377325	ensembl	human	known	74_37	silent	34.85	41.76	SNP	0.183	T	23	43
SLC15A2	6565	genome.wustl.edu	37	3	121647306	121647306	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121647306C>T	ENST00000489711.1	+	15	1633	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	SLC15A2_ENST00000295605.2_Silent_p.F384F|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	415					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGGAGGTTTTCCTACAAGTCT	0.448													ENSG00000163406																																					0													177.0	182.0	180.0					3																	121647306		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1245C>T	3.37:g.121647306C>T			A8K1A5|B4E2A7	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.F415	ENST00000489711.1	37	c.1245	CCDS3007.1	3																																																																																			-	SLC15A2	-	pfam_POT_fam,tigrfam_Oligopep_transport		0.448	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	0	0	0	70	70	92	0.00	0.00	C	NM_021082		121647306	+1	28	42	47	91	tier1	no_errors	ENST00000489711	ensembl	human	known	74_37	silent	37.33	31.58	SNP	0.997	T	28	47
ANKRD36	375248	genome.wustl.edu	37	2	97830045	97830045	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97830045C>T	ENST00000461153.2	+	19	1699	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	ANKRD36_ENST00000420699.2_Silent_p.F485F			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	485										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGCCTTTATTCACGGTAAACA	0.343													ENSG00000135976																																					0													18.0	13.0	15.0					2																	97830045		691	1572	2263	SO:0001819	synonymous_variant	0			-	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1455C>T	2.37:g.97830045C>T			B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F485	ENST00000461153.2	37	c.1455	CCDS54379.1	2																																																																																			-	ANKRD36	-	NULL		0.343	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	0	0	0	94	94	57	0.00	0.00	C			97830045	+1	20	8	47	28	tier1	no_errors	ENST00000420699	ensembl	human	known	74_37	silent	29.85	22.22	SNP	0.102	T	20	47
ANKRD45	339416	genome.wustl.edu	37	1	173616058	173616058	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:173616058G>A	ENST00000333279.2	-	3	483	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	157										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTTCTTCCCGGAAGTTCAAAG	0.468													ENSG00000183831																																					0													141.0	139.0	140.0					1																	173616058		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.423C>T	1.37:g.173616058G>A			A1A4G2|Q6ZST1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F141	ENST00000333279.2	37	c.423	CCDS1309.1	1																																																																																			-	ANKRD45	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.468	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD45	HGNC	protein_coding	OTTHUMT00000097580.2	0	0	0	91	91	121	0.00	0.00	G	NM_198493		173616058	-1	21	11	64	70	tier1	no_errors	ENST00000333279	ensembl	human	known	74_37	silent	24.71	13.58	SNP	0.996	A	21	64
WDR87	83889	genome.wustl.edu	37	19	38378106	38378106	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:38378106C>T	ENST00000303868.5	-	6	6312	c.6088G>A	c.(6088-6090)Gaa>Aaa	p.E2030K	WDR87_ENST00000447313.2_Missense_Mutation_p.E2069K	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2030	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TTGGCAATTTCGCTTTCCTCC	0.383													ENSG00000171804																																					0													96.0	74.0	81.0					19																	38378106		692	1591	2283	SO:0001583	missense	0			-	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6088G>A	19.37:g.38378106C>T	ENSP00000368025:p.Glu2030Lys		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2069K	ENST00000303868.5	37	c.6205	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474422	0.26423	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.65178	-0.14;-0.14	4.48	-3.57	0.04612	.	.	.	.	.	T	0.32734	0.0839	N	0.19112	0.55	0.09310	N	1	B;B	0.33857	0.429;0.429	B;B	0.19148	0.024;0.024	T	0.19976	-1.0289	9	0.14252	T	0.57	.	5.9477	0.19227	0.0:0.4044:0.1332:0.4624	.	2030;2069	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	K	2069;2030	ENSP00000405012:E2069K;ENSP00000368025:E2030K	ENSP00000368025:E2030K	E	-	1	0	WDR87	43069946	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-0.930000	0.03972	-0.366000	0.08064	-0.321000	0.08615	GAA	-	WDR87	-	superfamily_ARM-type_fold		0.383	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	0	0	0	75	75	141	0.00	0.00	C	XM_940478		38378106	-1	20	28	49	139	tier1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	28.99	16.77	SNP	0.000	T	20	49
ERC2	26059	genome.wustl.edu	37	3	56468889	56468889	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:56468889G>A	ENST00000288221.6	-	2	402	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	49						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGAGGGACTGGATATTCTCCA	0.532													ENSG00000187672																																					0													143.0	139.0	140.0					3																	56468889		2019	4182	6201	SO:0001819	synonymous_variant	0			-	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.147C>T	3.37:g.56468889G>A			Q2T9F6|Q86TK4	Silent	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.I49	ENST00000288221.6	37	c.147	CCDS46851.1	3																																																																																			-	ERC2	-	NULL		0.532	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	0	0	0	32	32	96	0.00	0.00	G	NM_015576		56468889	-1	11	31	15	71	tier1	no_errors	ENST00000288221	ensembl	human	known	74_37	silent	42.31	30.39	SNP	1.000	A	11	15
SLC6A18	348932	genome.wustl.edu	37	5	1244846	1244846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:1244846G>A	ENST00000324642.3	+	11	1743	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	540					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCTGTTCTGGAAGCCACTGA	0.622													ENSG00000164363																																					0													77.0	73.0	75.0					5																	1244846		2203	4300	6503	SO:0001587	stop_gained	0			-	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1620G>A	5.37:g.1244846G>A	ENSP00000323549:p.Trp540*			Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.W540*	ENST00000324642.3	37	c.1620	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679728	0.47886	.	.	ENSG00000164363	ENST00000324642	.	.	.	4.35	-2.02	0.07388	.	2.485370	0.01773	N	0.031296	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.6316	0.28243	0.1753:0.3787:0.446:0.0	.	.	.	.	X	540	.	ENSP00000323549:W540X	W	+	3	0	SLC6A18	1297846	0.002000	0.14202	0.000000	0.03702	0.028000	0.11728	1.186000	0.32078	-0.320000	0.08640	0.491000	0.48974	TGG	-	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	0	0	0	96	96	94	0.00	0.00	G	NM_182632		1244846	+1	41	34	43	32	tier1	no_errors	ENST00000324642	ensembl	human	known	74_37	nonsense	48.81	50.75	SNP	0.000	A	41	43
TMPRSS11BNL	401136	genome.wustl.edu	37	4	69056803	69056803	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:69056803C>T	ENST00000432593.3	-	0	640				RP11-646E20.6_ENST00000510782.1_RNA|FTLP10_ENST00000503647.1_RNA					TMPRSS11B N-terminal like, pseudogene											autonomic_ganglia(1)	1						TCTTAGGTTTCATATTGAAAA	0.294													ENSG00000250026																																					0																																										SO:0001624	3_prime_UTR_variant	0			-			4q13.2	2014-05-09	2014-05-08		ENSG00000226894	ENSG00000250026			37262	pseudogene	pseudogene			"""TMPRSS11B N terminal-like"", ""TMPRSS11B N-terminal like"""				Standard	NR_104048		Approved	FLJ41562	uc003hdv.1		OTTHUMG00000160802	ENST00000432593.3:c.*156G>A	4.37:g.69056803C>T				R	SNP	-	NULL	ENST00000432593.3	37	NULL	CCDS47066.1	4																																																																																			-	RP11-646E20.6	-	-		0.294	TMPRSS11BNL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250026	Clone_based_vega_gene	protein_coding		0	0	1	21	21	93	0.00	1.06	C	NM_001129907		69056803	-1	4	18	4	20	tier1	no_errors	ENST00000504453	ensembl	human	known	74_37	rna	50.00	47.37	SNP	0.001	T	4	4
FAM83B	222584	genome.wustl.edu	37	6	54806762	54806762	+	Missense_Mutation	SNP	G	G	A	rs267601082		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:54806762G>A	ENST00000306858.7	+	5	3109	c.2993G>A	c.(2992-2994)gGa>gAa	p.G998E	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	998										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAGTTTCGAGGATTTATGCAA	0.348													ENSG00000168143																																					0													47.0	47.0	47.0					6																	54806762		2203	4300	6503	SO:0001583	missense	0			-	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2993G>A	6.37:g.54806762G>A	ENSP00000304078:p.Gly998Glu		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.G998E	ENST00000306858.7	37	c.2993	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303801	0.81136	.	.	ENSG00000168143	ENST00000306858	T	0.30981	1.51	5.76	5.76	0.90799	.	0.077301	0.53938	D	0.000043	T	0.46658	0.1404	M	0.67953	2.075	0.47341	D	0.999395	D	0.69078	0.997	P	0.61874	0.895	T	0.36696	-0.9737	10	0.54805	T	0.06	-30.2055	19.9813	0.97326	0.0:0.0:1.0:0.0	.	998	Q5T0W9	FA83B_HUMAN	E	998	ENSP00000304078:G998E	ENSP00000304078:G998E	G	+	2	0	FAM83B	54914721	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.484000	0.60271	2.726000	0.93360	0.655000	0.94253	GGA	-	FAM83B	-	NULL		0.348	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	0	0	0	83	83	144	0.00	0.00	G	XM_294139		54806762	+1	20	41	55	102	tier1	no_errors	ENST00000306858	ensembl	human	known	74_37	missense	26.67	28.47	SNP	1.000	A	20	55
RELN	5649	genome.wustl.edu	37	7	103126803	103126803	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:103126803G>A	ENST00000428762.1	-	61	9983	c.9824C>T	c.(9823-9825)tCc>tTc	p.S3275F	RELN_ENST00000424685.2_Missense_Mutation_p.S3275F|RELN_ENST00000343529.5_Missense_Mutation_p.S3275F|RELN_ENST00000473945.1_5'Flank|RN7SKP86_ENST00000410454.1_RNA|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3275					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GACTCTTGCGGACTCAAAATT	0.498													ENSG00000189056																									NSCLC(146;835 1944 15585 22231 52158)												0													76.0	76.0	76.0					7																	103126803		2203	4300	6503	SO:0001583	missense	0			-		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9824C>T	7.37:g.103126803G>A	ENSP00000392423:p.Ser3275Phe		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.S3275F	ENST00000428762.1	37	c.9824	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929397	0.92389	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	M	0.61703	1.905	0.80722	D	1	B;D	0.64830	0.046;0.994	B;D	0.76071	0.098;0.987	T	0.48864	-0.8997	10	0.87932	D	0	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	3275;3275	P78509-2;P78509	.;RELN_HUMAN	F	3275;3275;3275;792;3275	ENSP00000392423:S3275F;ENSP00000345694:S3275F;ENSP00000388446:S3275F	ENSP00000345694:S3275F	S	-	2	0	RELN	102914039	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	TCC	-	RELN	-	NULL		0.498	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	0	0	0	58	58	79	0.00	0.00	G	NM_005045		103126803	-1	22	12	32	38	tier1	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	40.74	24.00	SNP	1.000	A	22	32
MSI2	124540	genome.wustl.edu	37	17	55704590	55704590	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:55704590G>A	ENST00000284073.2	+	10	862	c.653G>A	c.(652-654)gGa>gAa	p.G218E	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Splice_Site_p.G196E|MSI2_ENST00000442934.2_Splice_Site_p.G157E|MSI2_ENST00000579180.1_Splice_Site_p.G114E|MSI2_ENST00000322684.3_Splice_Site_p.G214E	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	218		Breakpoint for translocation to form MSI2/HOXA9 fusion protein.				cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TGTGTTCAAGGATATCCCAAC	0.527			T	HOXA9	CML								ENSG00000153944																												Dom	yes		17	17q23.2	124540	musashi homolog 2 (Drosophila)		L	0													186.0	166.0	173.0					17																	55704590		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.653-1G>A	17.37:g.55704590G>A			Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G218E	ENST00000284073.2	37	c.653	CCDS11596.1	17	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849739	0.71603	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	T;D;T;T	0.84800	3.4;-1.9;3.4;3.4	5.67	5.67	0.87782	.	0.044675	0.85682	D	0.000000	D	0.91761	0.7394	M	0.66939	2.045	0.80722	D	1	P;D;B	0.89917	0.455;1.0;0.141	B;D;B	0.80764	0.085;0.994;0.123	D	0.90585	0.4532	9	.	.	.	.	19.7555	0.96287	0.0:0.0:1.0:0.0	.	196;214;218	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	E	196;218;214;157	ENSP00000414671:G196E;ENSP00000284073:G218E;ENSP00000313616:G214E;ENSP00000392607:G157E	.	G	+	2	0	MSI2	53059589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.229000	0.89791	2.660000	0.90430	0.650000	0.86243	GGA	-	MSI2	-	NULL		0.527	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI2	HGNC	protein_coding	OTTHUMT00000441813.1	0	0	0	74	74	134	0.00	0.00	G		Missense_Mutation	55704590	+1	31	51	8	33	tier1	no_errors	ENST00000284073	ensembl	human	known	74_37	missense	79.49	60.71	SNP	1.000	A	31	8
PLXDC2	84898	genome.wustl.edu	37	10	20290848	20290848	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:20290848C>T	ENST00000377252.4	+	2	1098	c.257C>T	c.(256-258)tCt>tTt	p.S86F	PLXDC2_ENST00000377242.3_Missense_Mutation_p.S86F	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	86					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCCAAGACTCTCCTGAGCCC	0.498													ENSG00000120594																																					0													82.0	71.0	74.0					10																	20290848		2203	4300	6503	SO:0001583	missense	0			-	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.257C>T	10.37:g.20290848C>T	ENSP00000366460:p.Ser86Phe		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	p.S86F	ENST00000377252.4	37	c.257	CCDS7132.1	10	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462451	0.43736	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.25250	1.88;1.81	5.9	4.98	0.66077	.	0.463132	0.24467	N	0.038273	T	0.22044	0.0531	N	0.08118	0	0.80722	D	1	P;D	0.54397	0.874;0.966	P;P	0.50440	0.549;0.641	T	0.15235	-1.0444	10	0.87932	D	0	.	14.5774	0.68258	0.1462:0.8538:0.0:0.0	.	86;86	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	F	86;86;72	ENSP00000366460:S86F;ENSP00000366450:S86F	ENSP00000366450:S86F	S	+	2	0	PLXDC2	20330854	0.235000	0.23794	0.979000	0.43373	0.071000	0.16799	1.873000	0.39558	1.468000	0.48064	0.650000	0.86243	TCT	-	PLXDC2	-	NULL		0.498	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	0	0	0	63	63	92	0.00	0.00	C	NM_032812		20290848	+1	30	44	42	53	tier1	no_errors	ENST00000377252	ensembl	human	known	74_37	missense	41.67	44.90	SNP	0.990	T	30	42
LINC00670	284034	genome.wustl.edu	37	17	12493784	12493784	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:12493784C>T	ENST00000313495.2	+	0	485					NR_034144.1|NR_034145.1				long intergenic non-protein coding RNA 670																		ggattctggtccacctcgtcc	0.458													ENSG00000179136																																					0																																												0			-	BC122870, DB255288		17p12	2012-10-12			ENSG00000179136	ENSG00000179136		"""Long non-coding RNAs"""	44338	non-coding RNA	RNA, long non-coding							Standard	NR_034144		Approved	FLJ34690	uc002gnl.2		OTTHUMG00000058766		17.37:g.12493784C>T				R	SNP	-	NULL	ENST00000313495.2	37	NULL		17																																																																																			-	LINC00670	-	-		0.458	LINC00670-001	KNOWN	basic	lincRNA	LINC00670	HGNC	lincRNA	OTTHUMT00000129946.2	0	0	0	52	52	98	0.00	0.00	C	NR_034144		12493784	+1	19	29	7	23	tier1	no_errors	ENST00000313495	ensembl	human	known	74_37	rna	73.08	55.77	SNP	0.002	T	19	7
USH1C	10083	genome.wustl.edu	37	11	17537820	17537820	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:17537820G>A	ENST00000318024.4	-	15	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.R410C|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCATCGTAACGATAAAACCAT	0.493													ENSG00000006611																																					0													168.0	134.0	146.0					11																	17537820		2200	4293	6493	SO:0001627	intron_variant	0			-	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+1127C>T	11.37:g.17537820G>A			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R410C	ENST00000318024.4	37	c.1228	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897506	0.91962	.	.	ENSG00000006611	ENST00000005226	T	0.65732	-0.17	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	.	.	.	0.54753	D	0.999989	D	0.89917	1.0	D	0.68621	0.959	T	0.80765	-0.1236	9	0.87932	D	0	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	410	Q7RTU8	.	C	410	ENSP00000005226:R410C	ENSP00000005226:R410C	R	-	1	0	USH1C	17494396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.373000	0.73128	2.941000	0.99782	0.655000	0.94253	CGT	-	USH1C	-	NULL		0.493	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	0	0	0	123	123	162	0.00	0.00	G	NM_005709		17537820	-1	15	15	105	95	tier1	no_errors	ENST00000005226	ensembl	human	known	74_37	missense	12.50	13.51	SNP	1.000	A	15	105
IMPG1	3617	genome.wustl.edu	37	6	76731937	76731937	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:76731937C>T	ENST00000369950.3	-	6	752		c.e6-1		IMPG1_ENST00000369963.3_Splice_Site	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGGCAACATCTGTGAAAATT	0.378													ENSG00000112706																									Pancreas(37;839 1141 2599 26037)												0													99.0	91.0	94.0					6																	76731937		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.563-1G>A	6.37:g.76731937C>T				Splice_Site	SNP	-	e6-1	ENST00000369950.3	37	c.563-1	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084155	0.36758	.	.	ENSG00000112706	ENST00000369950	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5109	0.56005	0.1666:0.8334:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IMPG1	76788657	0.975000	0.34042	0.975000	0.42487	0.402000	0.30811	2.692000	0.47018	2.406000	0.81754	0.650000	0.86243	.	-	IMPG1	-	-		0.378	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	0	0	0	51	51	42	0.00	0.00	C	NM_001563	Intron	76731937	-1	15	21	40	40	tier1	no_errors	ENST00000369950	ensembl	human	known	74_37	splice_site	27.27	34.43	SNP	0.982	T	15	40
KRTAP10-3	386682	genome.wustl.edu	37	21	45977988	45977988	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:45977988G>A	ENST00000391620.1	-	1	655	c.611C>T	c.(610-612)tCc>tTc	p.S204F	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	204	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						AGAGAGGCGGGAGCACGTGGG	0.687													ENSG00000212935																																					0													27.0	33.0	31.0					21																	45977988		2197	4278	6475	SO:0001583	missense	0			-	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.611C>T	21.37:g.45977988G>A	ENSP00000375478:p.Ser204Phe		A3KN67|Q70LJ4	Missense_Mutation	SNP	NULL	p.S204F	ENST00000391620.1	37	c.611	CCDS42956.1	21	.	.	.	.	.	.	.	.	.	.	g	6.025	0.373049	0.11409	.	.	ENSG00000212935	ENST00000391620	T	0.00653	5.96	3.64	2.64	0.31445	.	.	.	.	.	T	0.00906	0.0030	M	0.73962	2.25	0.09310	N	0.999999	P	0.36438	0.553	B	0.27076	0.076	T	0.45454	-0.9260	9	0.66056	D	0.02	.	5.458	0.16602	0.0:0.2932:0.5108:0.196	.	204	P60369	KR103_HUMAN	F	204	ENSP00000375478:S204F	ENSP00000375478:S204F	S	-	2	0	KRTAP10-3	44802416	0.534000	0.26362	0.035000	0.18076	0.039000	0.13416	1.611000	0.36879	1.738000	0.51689	0.462000	0.41574	TCC	-	KRTAP10-3	-	NULL		0.687	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-3	HGNC	protein_coding	OTTHUMT00000128031.1	0	0	0	66	66	6	0.00	0.00	G			45977988	-1	18	5	40	10	tier1	no_errors	ENST00000391620	ensembl	human	known	74_37	missense	31.03	33.33	SNP	0.261	A	18	40
MLIP	90523	genome.wustl.edu	37	6	53989330	53989330	+	Silent	SNP	G	G	A	rs200776368		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:53989330G>A	ENST00000274897.5	+	3	392	c.279G>A	c.(277-279)gcG>gcA	p.A93A	MLIP_ENST00000502396.1_Silent_p.A104A|MLIP_ENST00000509997.1_Silent_p.A41A|MLIP_ENST00000358276.5_Silent_p.A87A|MLIP_ENST00000370877.2_Silent_p.A41A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Silent_p.A93A|MLIP_ENST00000370876.2_Silent_p.A31A	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	93						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GAGACCAAGCGAAATTGACTT	0.403													ENSG00000146147																																					0													89.0	86.0	87.0					6																	53989330		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.279G>A	6.37:g.53989330G>A			B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.A93	ENST00000274897.5	37	c.279	CCDS4954.1	6																																																																																			rs200776368	MLIP	-	NULL		0.403	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	0	0	0	78	78	130	0.00	0.00	G	NM_138569		53989330	+1	24	51	34	66	tier1	no_errors	ENST00000274897	ensembl	human	known	74_37	silent	41.38	43.59	SNP	0.004	A	24	34
OR2L2	26246	genome.wustl.edu	37	1	248201652	248201652	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248201652C>T	ENST00000366479.2	+	1	179	c.83C>T	c.(82-84)aCc>aTc	p.T28I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCGTATTCACCCTCATTTTT	0.373													ENSG00000203663																																					0													190.0	182.0	185.0					1																	248201652		2203	4300	6503	SO:0001583	missense	0			-	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.83C>T	1.37:g.248201652C>T	ENSP00000355435:p.Thr28Ile		Q2M3T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T28I	ENST00000366479.2	37	c.83	CCDS31103.1	1	.	.	.	.	.	.	.	.	.	.	.	0.263	-0.998297	0.02145	.	.	ENSG00000203663	ENST00000366479	T	0.00348	8.0	1.97	-2.92	0.05615	.	.	.	.	.	T	0.00109	0.0003	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07009	-1.0795	8	0.08837	T	0.75	.	6.5991	0.22691	0.0:0.2866:0.0:0.7134	.	28	Q8NH16	OR2L2_HUMAN	I	28	ENSP00000355435:T28I	ENSP00000355435:T28I	T	+	2	0	OR2L2	246268275	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.403000	0.02497	-0.922000	0.03789	0.194000	0.17425	ACC	-	OR2L2	-	prints_GPCR_Rhodpsn		0.373	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	1	1	0	164	164	42	0.61	0.00	C	NM_001004686		248201652	+1	33	10	110	38	tier1	no_errors	ENST00000366479	ensembl	human	known	74_37	missense	23.08	20.83	SNP	0.000	T	33	110
TCEB3CL2	100506888	genome.wustl.edu	37	18	44543450	44543450	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:44543450C>T	ENST00000591973.2	-	1	1157	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	308	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										AAAGCAGCTTCCTCCTGGAGC	0.632													ENSG00000266996																																					0													1.0	1.0	1.0					18																	44543450		82	305	387	SO:0001583	missense	0			-		CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.922G>A	18.37:g.44543450C>T	ENSP00000468046:p.Glu308Lys			Missense_Mutation	SNP	pfam_R_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.E308K	ENST00000591973.2	37	c.922	CCDS59316.1	18																																																																																			-	TCEB3CL2	-	NULL		0.632	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	0	0	0	77	77	33	0.00	0.00	C	XM_929328		44543450	-1	13	6	57	32	tier1	no_errors	ENST00000591973	ensembl	human	known	74_37	missense	18.57	15.79	SNP	0.002	T	13	57
ZP4	57829	genome.wustl.edu	37	1	238050814	238050814	+	Missense_Mutation	SNP	G	G	A	rs374676601		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:238050814G>A	ENST00000366570.4	-	5	759	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	201	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCACGTTCCGAGACACAGCA	0.527													ENSG00000116996																									NSCLC(166;160 2029 11600 18754 19936)												0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	118.0	123.0		601	1.3	0.9	1		123	0,8600		0,0,4300	no	missense	ZP4	NM_021186.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	201/541	238050814	1,13005	2203	4300	6503	SO:0001583	missense	0			-	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.601C>T	1.37:g.238050814G>A	ENSP00000355529:p.Arg201Trp		B2RAE1	Missense_Mutation	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R201W	ENST00000366570.4	37	c.601	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310835	0.60414	2.27E-4	0.0	ENSG00000116996	ENST00000366570	D	0.83250	-1.7	4.86	1.33	0.21861	Zona pellucida sperm-binding protein (3);	0.149436	0.41500	D	0.000866	D	0.89712	0.6794	M	0.89287	3.02	0.33177	D	0.549011	D	0.89917	1.0	D	0.72338	0.977	D	0.89063	0.3464	10	0.87932	D	0	-18.2754	6.1792	0.20461	0.0955:0.0:0.341:0.5634	.	201	Q12836	ZP4_HUMAN	W	201	ENSP00000355529:R201W	ENSP00000355529:R201W	R	-	1	2	ZP4	236117437	0.000000	0.05858	0.907000	0.35723	0.824000	0.46624	-0.113000	0.10774	0.408000	0.25621	0.655000	0.94253	CGG	-	ZP4	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.527	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	0	0	0	32	32	168	0.00	0.00	G			238050814	-1	8	33	20	75	tier1	no_errors	ENST00000366570	ensembl	human	known	74_37	missense	28.57	30.56	SNP	0.563	A	8	20
OR6C65	403282	genome.wustl.edu	37	12	55795213	55795213	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55795213G>A	ENST00000379665.2	+	1	1000	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCTTAGGGAATTCACCAA	0.353													ENSG00000205328																																					0													36.0	36.0	36.0					12																	55795213		2203	4299	6502	SO:0001583	missense	0			-		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.901G>A	12.37:g.55795213G>A	ENSP00000368986:p.Glu301Lys		B2RNH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E301K	ENST00000379665.2	37	c.901	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200934	0.38905	.	.	ENSG00000205328	ENST00000379665	T	0.32988	1.43	3.92	-0.328	0.12690	.	0.541831	0.14887	U	0.292626	T	0.06096	0.0158	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33548	-0.9864	10	0.52906	T	0.07	.	3.3569	0.07172	0.3154:0.0:0.5049:0.1797	.	301	A6NJZ3	O6C65_HUMAN	K	301	ENSP00000368986:E301K	ENSP00000368986:E301K	E	+	1	0	OR6C65	54081480	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.295000	0.08298	-0.171000	0.10797	0.424000	0.28305	GAA	-	OR6C65	-	NULL		0.353	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	0	0	0	107	107	95	0.00	0.00	G			55795213	+1	18	27	50	64	tier1	no_errors	ENST00000379665	ensembl	human	known	74_37	missense	26.47	29.67	SNP	0.000	A	18	50
LRRC31	79782	genome.wustl.edu	37	3	169571369	169571369	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:169571369C>T	ENST00000316428.5	-	6	1049				LRRC31_ENST00000523069.1_Intron|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Intron	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31											cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TGAATGTCTTCCTAGGTATGA	0.403													ENSG00000114248																																					0																																										SO:0001627	intron_variant	0			-	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.991+1231G>A	3.37:g.169571369C>T			B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	R	SNP	-	NULL	ENST00000316428.5	37	NULL	CCDS43167.1	3																																																																																			-	LRRC31	-	-		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	0	0	1	65	65	188	0.00	0.53	C	NM_024727		169571369	-1	21	63	53	115	tier1	no_errors	ENST00000397805	ensembl	human	known	74_37	rna	28.38	35.39	SNP	0.007	T	21	53
UMODL1	89766	genome.wustl.edu	37	21	43557616	43557616	+	Silent	SNP	C	C	T	rs375378717		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43557616C>T	ENST00000408910.2	+	22	3843	c.3843C>T	c.(3841-3843)ttC>ttT	p.F1281F	UMODL1_ENST00000400424.2_Silent_p.F1209F|UMODL1_ENST00000408989.2_Silent_p.F1409F|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.F1337F	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1281					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGCCATCTTCGTGCTGGTGG	0.547													ENSG00000177398	C|||	1	0.000199681	0.0008	0.0	5008	,	,		16107	0.0		0.0	False		,,,				2504	0.0				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0								C	,,,	5,4125		0,5,2060	165.0	174.0	171.0		3843,4011,3627,4227	-6.1	0.0	21		171	0,8412		0,0,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	,,,	0,5,6266	TT,TC,CC		0.0,0.1211,0.0399	,,,	1281/1319,1337/1375,1209/1247,1409/1447	43557616	5,12537	2065	4206	6271	SO:0001819	synonymous_variant	0			-		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3843C>T	21.37:g.43557616C>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.F1409	ENST00000408910.2	37	c.4227	CCDS42936.1	21																																																																																			-	UMODL1	-	NULL		0.547	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	0	0	0	56	56	103	0.00	0.00	C			43557616	+1	25	15	28	32	tier1	no_errors	ENST00000408989	ensembl	human	known	74_37	silent	47.17	31.91	SNP	0.000	T	25	28
ILDR1	286676	genome.wustl.edu	37	3	121741010	121741010	+	5'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121741010C>T	ENST00000344209.5	-	0	41				ILDR1_ENST00000273691.3_5'UTR|ILDR1_ENST00000393631.1_5'Flank|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1						positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GACGCACCACCTTCTCCAAGG	0.697													ENSG00000145103																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.-86G>A	3.37:g.121741010C>T			Q6ZP61|Q7Z578	R	SNP	-	NULL	ENST00000344209.5	37	NULL	CCDS56271.1	3																																																																																			-	ILDR1	-	-		0.697	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	0	0	0	44	44	37	0.00	0.00	C	NM_175924		121741010	-1	20	8	42	28	tier1	no_errors	ENST00000460554	ensembl	human	known	74_37	rna	32.26	22.22	SNP	0.004	T	20	42
DOCK1	1793	genome.wustl.edu	37	10	128830476	128830476	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:128830476G>A	ENST00000280333.6	+	18	1850	c.1741G>A	c.(1741-1743)Ggc>Agc	p.G581S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	581	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGAAGAAAAGGGCCACTCGGC	0.557													ENSG00000150760																																					0													27.0	28.0	28.0					10																	128830476		2119	4235	6354	SO:0001583	missense	0			-	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1741G>A	10.37:g.128830476G>A	ENSP00000280333:p.Gly581Ser		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.G581S	ENST00000280333.6	37	c.1741		10	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515766	0.64634	.	.	ENSG00000150760	ENST00000280333	T	0.03745	3.82	3.85	3.85	0.44370	.	0.057583	0.64402	D	0.000002	T	0.04634	0.0126	L	0.39467	1.215	0.80722	D	1	B;B	0.13594	0.007;0.008	B;B	0.19666	0.012;0.026	T	0.45702	-0.9243	10	0.16896	T	0.51	.	17.1159	0.86688	0.0:0.0:1.0:0.0	.	581;581	B2RUU3;Q14185	.;DOCK1_HUMAN	S	581	ENSP00000280333:G581S	ENSP00000280333:G581S	G	+	1	0	DOCK1	128720466	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.526000	0.98042	2.415000	0.81967	0.655000	0.94253	GGC	-	DOCK1	-	NULL		0.557	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	0	0	0	28	28	75	0.00	0.00	G	NM_001380		128830476	+1	10	35	3	17	tier1	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	76.92	67.31	SNP	1.000	A	10	3
TMPRSS11F	389208	genome.wustl.edu	37	4	68939712	68939712	+	Nonsense_Mutation	SNP	G	G	A	rs542655796		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:68939712G>A	ENST00000356291.2	-	4	357	c.298C>T	c.(298-300)Cga>Tga	p.R100*	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	100	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAAGAATGTCGAAATATCCTA	0.244													ENSG00000198092	g|||	1	0.000199681	0.0	0.0	5008	,	,		16271	0.001		0.0	False		,,,				2504	0.0																0													30.0	29.0	29.0					4																	68939712		2196	4293	6489	SO:0001587	stop_gained	0			-	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.298C>T	4.37:g.68939712G>A	ENSP00000348639:p.Arg100*		A8MXX2	Nonsense_Mutation	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1	p.R100*	ENST00000356291.2	37	c.298	CCDS3520.1	4	.	.	.	.	.	.	.	.	.	.	g	22.1	4.251053	0.80135	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.53	3.8	0.43715	.	0.436137	0.19621	N	0.109909	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3813	0.38316	0.0:0.1567:0.6804:0.1629	.	.	.	.	X	100	.	ENSP00000348639:R100X	R	-	1	2	TMPRSS11F	68622307	0.664000	0.27457	0.997000	0.53966	0.573000	0.36030	0.786000	0.26844	0.695000	0.31675	-0.121000	0.15023	CGA	-	TMPRSS11F	-	pirsf_Pept_S1A_HAT/DESC1,pfam_SEA_dom,pfscan_SEA_dom		0.244	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11F	HGNC	protein_coding	OTTHUMT00000251439.1	0	0	0	173	173	41	0.00	0.00	G	NM_207407		68939712	-1	65	23	54	28	tier1	no_errors	ENST00000356291	ensembl	human	known	74_37	nonsense	54.62	45.10	SNP	1.000	A	65	54
ADAMTS3	9508	genome.wustl.edu	37	4	73205402	73205402	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:73205402G>A	ENST00000286657.4	-	5	706	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	224					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCCTTCCAGGTCCGACTCT	0.448													ENSG00000156140																									NSCLC(168;1941 2048 2918 13048 43078)												0													136.0	136.0	136.0					4																	73205402		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.670C>T	4.37:g.73205402G>A			A1L3U9|Q9BXZ8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.L224	ENST00000286657.4	37	c.670	CCDS3553.1	4																																																																																			-	ADAMTS3	-	NULL		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	0	0	0	39	39	133	0.00	0.00	G			73205402	-1	23	44	9	42	tier1	no_errors	ENST00000286657	ensembl	human	known	74_37	silent	71.88	50.57	SNP	0.370	A	23	9
JAKMIP2	9832	genome.wustl.edu	37	5	146971234	146971234	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:146971234C>T	ENST00000265272.5	-	21	2895	c.2428G>A	c.(2428-2430)Gga>Aga	p.G810R	JAKMIP2_ENST00000333010.6_3'UTR|JAKMIP2_ENST00000507386.1_3'UTR	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	810						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCTTATCCATGTTTTCGG	0.328													ENSG00000176049																																					0													145.0	128.0	133.0					5																	146971234		2203	4299	6502	SO:0001583	missense	0			-	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.2428G>A	5.37:g.146971234C>T	ENSP00000265272:p.Gly810Arg		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.G810R	ENST00000265272.5	37	c.2428	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679191	0.47886	.	.	ENSG00000176049	ENST00000265272	T	0.23552	1.9	5.31	5.31	0.75309	.	.	.	.	.	T	0.14270	0.0345	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05115	-1.0905	9	0.87932	D	0	.	10.5635	0.45159	0.0:0.8815:0.0:0.1185	.	810	Q96AA8	JKIP2_HUMAN	R	810	ENSP00000265272:G810R	ENSP00000265272:G810R	G	-	1	0	JAKMIP2	146951427	0.971000	0.33674	0.978000	0.43139	0.796000	0.44982	2.061000	0.41403	2.637000	0.89404	0.563000	0.77884	GGA	-	JAKMIP2	-	NULL		0.328	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	0	0	0	57	57	80	0.00	0.00	C	NM_014790		146971234	-1	26	36	17	32	tier1	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	60.47	52.94	SNP	0.982	T	26	17
ANXA3	306	genome.wustl.edu	37	4	79507444	79507444	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:79507444G>A	ENST00000264908.6	+	6	722	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ANXA3_ENST00000503570.2_Missense_Mutation_p.E76K|ANXA3_ENST00000512884.1_Missense_Mutation_p.E76K	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	115					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGCCTTGATTGAAATCTTAAC	0.363													ENSG00000138772																									GBM(2;126 157 27790 28920 42492)												0													143.0	139.0	141.0					4																	79507444		2203	4300	6503	SO:0001583	missense	0			-	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.343G>A	4.37:g.79507444G>A	ENSP00000264908:p.Glu115Lys		B2R9W6|Q6LET2	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII	p.E115K	ENST00000264908.6	37	c.343	CCDS3584.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.147407	0.94603	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000514171;ENST00000508214	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.82;2.82	5.33	5.33	0.75918	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53940	-0.8367	10	0.87932	D	0	.	17.961	0.89085	0.0:0.0:1.0:0.0	.	115	P12429	ANXA3_HUMAN	K	115;76;76;115;115	ENSP00000264908:E115K;ENSP00000423068:E76K;ENSP00000421015:E76K;ENSP00000421512:E115K;ENSP00000422281:E115K	ENSP00000264908:E115K	E	+	1	0	ANXA3	79726468	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.823000	0.75282	2.777000	0.95525	0.591000	0.81541	GAA	-	ANXA3	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin		0.363	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA3	HGNC	protein_coding	OTTHUMT00000252516.3	0	0	0	156	156	93	0.00	0.00	G	NM_005139		79507444	+1	63	17	45	29	tier1	no_errors	ENST00000264908	ensembl	human	known	74_37	missense	58.33	36.96	SNP	1.000	A	63	45
PDE7B	27115	genome.wustl.edu	37	6	136508238	136508238	+	Silent	SNP	C	C	T	rs267600826		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:136508238C>T	ENST00000308191.6	+	12	1413	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	370	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	AAGATTCCATCCCTAGTATAC	0.328													ENSG00000171408																																					0								C		1,4405	2.1+/-5.4	0,1,2202	90.0	96.0	94.0		1110	0.0	1.0	6		94	0,8600		0,0,4300	no	coding-synonymous	PDE7B	NM_018945.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		370/451	136508238	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1110C>T	6.37:g.136508238C>T			Q5W154	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.I370	ENST00000308191.6	37	c.1110	CCDS5175.1	6																																																																																			-	PDE7B	-	pfam_PDEase_catalytic_dom		0.328	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	HGNC	protein_coding	OTTHUMT00000042371.1	0	0	0	76	76	137	0.00	0.00	C			136508238	+1	23	31	46	83	tier1	no_errors	ENST00000308191	ensembl	human	known	74_37	silent	33.33	26.96	SNP	0.998	T	23	46
IDO2	169355	genome.wustl.edu	37	8	39873083	39873083	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:39873083G>A	ENST00000389060.4	+	10	1186	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000502986.2_Missense_Mutation_p.D409N			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	396					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GAGTGTCAGGGATAAGACCTT	0.557													ENSG00000188676																																					0													111.0	108.0	109.0					8																	39873083		1971	4151	6122	SO:0001583	missense	0			-	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1186G>A	8.37:g.39873083G>A	ENSP00000426447:p.Asp396Asn		A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.D409N	ENST00000389060.4	37	c.1225		8	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071312	0.20147	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.54071	0.59;0.59	5.93	1.75	0.24633	.	0.535457	0.21358	N	0.075852	T	0.43722	0.1260	L	0.53671	1.685	0.26488	N	0.974985	B;B	0.17268	0.021;0.018	B;B	0.18263	0.009;0.021	T	0.31586	-0.9938	9	.	.	.	.	9.3874	0.38352	0.3254:0.0:0.6746:0.0	.	409;396	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	N	409;396	ENSP00000443432:D409N;ENSP00000426447:D396N	.	D	+	1	0	IDO2	39992240	1.000000	0.71417	0.982000	0.44146	0.225000	0.24961	3.792000	0.55476	0.282000	0.22254	0.655000	0.94253	GAT	-	IDO2	-	pfam_Indolamine_dOase		0.557	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	0	0	0	40	40	131	0.00	0.00	G	NM_194294		39873083	+1	8	35	15	32	tier1	no_errors	ENST00000502986	ensembl	human	known	74_37	missense	34.78	52.24	SNP	1.000	A	8	15
B4GALT3	8703	genome.wustl.edu	37	1	161141446	161141446	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:161141446C>T	ENST00000319769.5	-	0	1564				PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_3'UTR|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TCTACAGGAGCCCAGCTCCAG	0.557													ENSG00000158850																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.*160G>A	1.37:g.161141446C>T			D3DVG3|O60910|Q9BPZ4|Q9H8T2	R	SNP	-	NULL	ENST00000319769.5	37	NULL	CCDS1222.1	1																																																																																			-	B4GALT3	-	-		0.557	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	0	0	0	78	78	70	0.00	0.00	C	NM_003779		161141446	-1	10	15	50	45	tier1	no_errors	ENST00000470882	ensembl	human	known	74_37	rna	16.67	25.00	SNP	1.000	T	10	50
NOL4	8715	genome.wustl.edu	37	18	31537439	31537439	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:31537439C>T	ENST00000261592.5	-	8	1576	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	NOL4_ENST00000535384.1_Missense_Mutation_p.V142I|NOL4_ENST00000538587.1_Missense_Mutation_p.V353I|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	427						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GAGATTGGGACCATTCGGTCC	0.483													ENSG00000101746																																					0													112.0	91.0	98.0					18																	31537439		2203	4300	6503	SO:0001583	missense	0			-	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1279G>A	18.37:g.31537439C>T	ENSP00000261592:p.Val427Ile		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.V427I	ENST00000261592.5	37	c.1279	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187911	0.78789	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	T;T	0.80123	-1.34;-1.34	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000002	D	0.87418	0.6172	L	0.48877	1.53	0.80722	D	1	P;D	0.61697	0.883;0.99	P;D	0.73380	0.457;0.98	D	0.85483	0.1180	10	0.44086	T	0.13	-12.55	20.5073	0.99209	0.0:1.0:0.0:0.0	.	353;427	B4DSQ0;O94818	.;NOL4_HUMAN	I	427;142;353	ENSP00000445733:V142I;ENSP00000443472:V353I	ENSP00000261592:V427I	V	-	1	0	NOL4	29791437	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.855000	0.98099	0.585000	0.79938	GTC	-	NOL4	-	NULL		0.483	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	0	0	0	74	74	111	0.00	0.00	C	NM_003787		31537439	-1	24	52	15	31	tier1	no_errors	ENST00000261592	ensembl	human	known	74_37	missense	61.54	62.65	SNP	1.000	T	24	15
PRG4	10216	genome.wustl.edu	37	1	186280283	186280283	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:186280283G>A	ENST00000445192.2	+	9	3662	c.3617G>A	c.(3616-3618)gGa>gAa	p.G1206E	PRG4_ENST00000367486.3_Missense_Mutation_p.G1163E|PRG4_ENST00000367485.4_Missense_Mutation_p.G1113E|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367484.3_Missense_Mutation_p.G735E|PRG4_ENST00000367483.4_Missense_Mutation_p.G1165E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1206					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACTGTGAAGGAAAAACTTTC	0.343													ENSG00000116690																																					0													92.0	88.0	89.0					1																	186280283		2203	4300	6503	SO:0001583	missense	0			-	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3617G>A	1.37:g.186280283G>A	ENSP00000399679:p.Gly1206Glu		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.G1206E	ENST00000445192.2	37	c.3617	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548182	0.45383	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89	5.0	5.0	0.66597	Hemopexin/matrixin (2);	0.000000	0.42682	U	0.000668	T	0.21022	0.0506	M	0.82056	2.57	0.53005	D	0.99996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.00668	-1.1618	10	0.72032	D	0.01	-10.0487	18.6476	0.91416	0.0:0.0:1.0:0.0	.	1072;1113;1206;1165	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	1163;735;1165;1113;1206	ENSP00000356456:G1163E;ENSP00000356454:G735E;ENSP00000356453:G1165E;ENSP00000356455:G1113E;ENSP00000399679:G1206E	ENSP00000356453:G1165E	G	+	2	0	PRG4	184546906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.163000	0.71880	2.474000	0.83562	0.585000	0.79938	GGA	-	PRG4	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat		0.343	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	0	0	0	84	84	97	0.00	0.00	G	NM_005807		186280283	+1	27	40	42	49	tier1	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	39.13	44.44	SNP	1.000	A	27	42
C2CD2	25966	genome.wustl.edu	37	21	43329576	43329576	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43329576G>A	ENST00000380486.3	-	8	1251	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	C2CD2_ENST00000329623.7_Missense_Mutation_p.S182F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	337	C2.					cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACCTTCTGAGGATCGCCCAGC	0.537													ENSG00000157617																																					0													88.0	74.0	79.0					21																	43329576		2203	4300	6503	SO:0001583	missense	0			-	AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"""TMEM24-like"""		"""chromosome 21 open reading frame 25"""	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1010C>T	21.37:g.43329576G>A	ENSP00000369853:p.Ser337Phe		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.S337F	ENST00000380486.3	37	c.1010	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	G	7.270	0.606929	0.14002	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.76839	-1.05;-1.05	4.97	4.08	0.47627	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.698930	0.14637	N	0.307455	T	0.75774	0.3895	L	0.50333	1.59	0.09310	N	1	P;B	0.42161	0.772;0.317	P;B	0.49799	0.622;0.235	T	0.63093	-0.6714	10	0.09843	T	0.71	-2.1869	10.1803	0.42963	0.1583:0.0:0.8417:0.0	.	182;337	Q6P6D1;Q9Y426	.;CU025_HUMAN	F	182;337	ENSP00000329302:S182F;ENSP00000369853:S337F	ENSP00000329302:S182F	S	-	2	0	C2CD2	42202645	0.991000	0.36638	0.336000	0.25522	0.079000	0.17450	4.078000	0.57606	2.318000	0.78349	0.591000	0.81541	TCC	-	C2CD2	-	pfam_C2_dom,superfamily_C2_dom		0.537	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	0	0	0	37	37	64	0.00	0.00	G	NM_015500		43329576	-1	7	20	24	34	tier1	no_errors	ENST00000380486	ensembl	human	known	74_37	missense	22.58	37.04	SNP	0.034	A	7	24
SULF2	55959	genome.wustl.edu	37	20	46300964	46300964	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:46300964G>A	ENST00000359930.4	-	11	2405	c.1554C>T	c.(1552-1554)cgC>cgT	p.R518R	SULF2_ENST00000467815.1_Silent_p.R518R|SULF2_ENST00000484875.1_Silent_p.R518R|SULF2_ENST00000361612.4_Silent_p.R518R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	518					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTTTTTTCCGGCGTCCGGCCA	0.607													ENSG00000196562																																					0													73.0	71.0	72.0					20																	46300964		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1554C>T	20.37:g.46300964G>A			E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R518	ENST00000359930.4	37	c.1554	CCDS13408.1	20																																																																																			-	SULF2	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	0	0	0	49	49	96	0.00	0.00	G	NM_018837		46300964	-1	27	32	33	46	tier1	no_errors	ENST00000359930	ensembl	human	known	74_37	silent	44.26	41.03	SNP	0.917	A	27	33
EXOSC6	118460	genome.wustl.edu	37	16	70287878	70287878	+	5'Flank	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:70287878G>A	ENST00000435634.1	-	0	0				AARS_ENST00000261772.8_Silent_p.L822L|AARS_ENST00000564359.1_5'Flank	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACCTTCTTTAGGGATTTGAGA	0.547											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000090861																																					0													120.0	115.0	117.0					16																	70287878		2198	4300	6498	SO:0001631	upstream_gene_variant	0			-	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287878G>A	Exception_encountered	1121		Silent	SNP	pfam_Ala-tR-synth_IIc_N,pfam_tR_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tR-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tR-synth_IIc_edit,smart_tR_SAD,prints_Ala-tR-lgiase_IIc,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc	p.L822	ENST00000435634.1	37	c.2464	CCDS10887.1	16																																																																																			-	AARS	-	tigrfam_Ala-tR-lgiase_IIc		0.547	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000268966.1	0	0	0	31	31	87	0.00	0.00	G	NM_058219		70287878	-1	11	43	26	57	tier1	no_errors	ENST00000261772	ensembl	human	known	74_37	silent	29.73	42.57	SNP	0.968	A	11	26
KCNJ5	3762	genome.wustl.edu	37	11	128781835	128781835	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:128781835G>A	ENST00000338350.4	+	3	1019	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_ENST00000529694.1_Missense_Mutation_p.D223N|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D223N			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	223					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CCGGGTGGGCGACCTCCGCAA	0.597													ENSG00000120457																									Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0													94.0	94.0	94.0					11																	128781835		2201	4297	6498	SO:0001583	missense	0			-	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.667G>A	11.37:g.128781835G>A	ENSP00000339960:p.Asp223Asn		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.D223N	ENST00000338350.4	37	c.667	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617202	0.46736	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.90444	-2.67;-2.67;-2.67	5.46	5.46	0.80206	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	L	0.28400	0.85	0.51767	D	0.999935	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.09843	T	0.71	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	223	P48544	IRK5_HUMAN	N	223	ENSP00000433295:D223N;ENSP00000339960:D223N;ENSP00000434266:D223N	ENSP00000339960:D223N	D	+	1	0	KCNJ5	128287045	1.000000	0.71417	0.951000	0.38953	0.824000	0.46624	8.062000	0.89475	2.556000	0.86216	0.561000	0.74099	GAC	-	KCNJ5	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.597	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	0	0	0	53	53	88	0.00	0.00	G	NM_000890		128781835	+1	9	12	25	82	tier1	no_errors	ENST00000529694	ensembl	human	known	74_37	missense	26.47	12.77	SNP	1.000	A	9	25
CACNA2D1	781	genome.wustl.edu	37	7	81667533	81667533	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:81667533C>T	ENST00000356253.5	-	11	1153	c.898G>A	c.(898-900)Gat>Aat	p.D300N	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D300N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	300	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAGCTTACATCCTGAGCATTG	0.308													ENSG00000153956																																					0													99.0	98.0	99.0					7																	81667533		2203	4300	6503	SO:0001583	missense	0			-	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.898G>A	7.37:g.81667533C>T	ENSP00000348589:p.Asp300Asn		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D300N	ENST00000356253.5	37	c.898		7	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828394	0.16749	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.83506	-1.73;-1.73	5.86	5.86	0.93980	.	0.100868	0.64402	D	0.000001	T	0.69620	0.3131	N	0.17082	0.46	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63514	-0.6620	10	0.26408	T	0.33	-26.3175	11.1522	0.48466	0.0:0.8897:0.0:0.1103	.	300	P54289-2	.	N	300	ENSP00000349320:D300N;ENSP00000348589:D300N	ENSP00000284088:D300N	D	-	1	0	CACNA2D1	81505469	0.949000	0.32298	1.000000	0.80357	0.979000	0.70002	1.334000	0.33827	2.780000	0.95670	0.585000	0.79938	GAT	-	CAC2D1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	CAC2D1	HGNC	protein_coding		0	0	0	100	100	99	0.00	0.00	C			81667533	-1	20	18	46	41	tier1	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	30.30	30.51	SNP	0.974	T	20	46
PAPPA	5069	genome.wustl.edu	37	9	118997664	118997664	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:118997664C>T	ENST00000328252.3	+	7	2849	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	827					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGAACATCTCCCTGGGTCCT	0.522													ENSG00000182752																																					0													86.0	69.0	75.0					9																	118997664		2203	4300	6503	SO:0001583	missense	0			-		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2480C>T	9.37:g.118997664C>T	ENSP00000330658:p.Ser827Phe		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S827F	ENST00000328252.3	37	c.2480	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957583	0.92726	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02103	4.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00009	-1.2462	10	0.59425	D	0.04	-25.7166	20.5948	0.99439	0.0:1.0:0.0:0.0	.	271;827	E7EMD3;Q13219	.;PAPP1_HUMAN	F	827;271	ENSP00000330658:S827F	ENSP00000330658:S827F	S	+	2	0	PAPPA	118037485	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	5.737000	0.68606	2.873000	0.98535	0.563000	0.77884	TCC	-	PAPPA	-	superfamily_Fibronectin_type3		0.522	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	0	0	0	43	43	97	0.00	0.00	C	NM_002581		118997664	+1	14	33	5	26	tier1	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	73.68	55.93	SNP	1.000	T	14	5
DCDC1	341019	genome.wustl.edu	37	11	30974057	30974057	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:30974057C>T	ENST00000597505.1	-	19	2649	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K	DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_Intron			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGAGGATTTTCAACTCTAGAA	0.403													ENSG00000170959																																					0													162.0	148.0	152.0					11																	30974057		1887	4119	6006	SO:0001583	missense	0			-	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2650G>A	11.37:g.30974057C>T	ENSP00000472625:p.Glu884Lys		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.E884K	ENST00000597505.1	37	c.2650		11																																																																																			-	DCDC1	-	NULL		0.403	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000463167.1	0	0	0	110	110	139	0.00	0.00	C	NM_181807		30974057	-1	18	20	73	118	tier1	no_errors	ENST00000597505	ensembl	human	putative	74_37	missense	19.78	14.49	SNP	1.000	T	18	73
CSMD2	114784	genome.wustl.edu	37	1	34166166	34166166	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34166166G>A	ENST00000373380.1	-	2	523	c.303C>T	c.(301-303)ttC>ttT	p.F101F	CSMD2_ENST00000373381.4_Silent_p.F1228F|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1188	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCAGTGATGAAATCAAGCC	0.468													ENSG00000121904																																					0													95.0	88.0	91.0					1																	34166166		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.303C>T	1.37:g.34166166G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F1228	ENST00000373380.1	37	c.3684		1																																																																																			-	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.468	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	0	0	1	95	95	96	0.00	1.03	G	NM_052896		34166166	-1	20	13	63	83	tier1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	24.10	13.54	SNP	1.000	A	20	63
RETNLB	84666	genome.wustl.edu	37	3	108476006	108476006	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108476006G>A	ENST00000295755.6	-	1	225	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RETNLB_ENST00000482939.1_5'Flank	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	9					cell proliferation (GO:0008283)	extracellular region (GO:0005576)				endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGATTAGGATGAGAAGGAGGC	0.517													ENSG00000163515																																					0													69.0	61.0	64.0					3																	108476006		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF290873	CCDS2953.1	3q13.1	2008-02-05			ENSG00000163515	ENSG00000163515			20388	protein-coding gene	gene with protein product		605645				10921885, 12574343	Standard	NM_032579		Approved	HXCP2, FIZZ2, RELMb	uc003dxh.2	Q9BQ08	OTTHUMG00000159393	ENST00000295755.6:c.27C>T	3.37:g.108476006G>A			Q14D27	Silent	SNP	pfam_Resistin,superfamily_Resistin	p.L9	ENST00000295755.6	37	c.27	CCDS2953.1	3																																																																																			-	RETNLB	-	pfam_Resistin		0.517	RETNLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETNLB	HGNC	protein_coding	OTTHUMT00000355093.1	0	0	0	76	76	92	0.00	0.00	G			108476006	-1	24	20	57	67	tier1	no_errors	ENST00000295755	ensembl	human	known	74_37	silent	29.63	22.99	SNP	0.981	A	24	57
GALNT8	26290	genome.wustl.edu	37	12	4848348	4848348	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:4848348C>T	ENST00000252318.2	+	3	866	c.529C>T	c.(529-531)Cct>Tct	p.P177S	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	177					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAAGACATATCCTTCCCAACT	0.393													ENSG00000130035																									Colon(108;631 1558 7270 20097 39846)												0													118.0	105.0	109.0					12																	4848348		2203	4300	6503	SO:0001583	missense	0			-	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.529C>T	12.37:g.4848348C>T	ENSP00000252318:p.Pro177Ser		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P177S	ENST00000252318.2	37	c.529	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	6.639	0.486301	0.12641	.	.	ENSG00000130035	ENST00000252318	T	0.60040	0.22	4.45	-6.04	0.02178	.	0.539122	0.18042	N	0.153597	T	0.34861	0.0912	L	0.38175	1.15	0.27866	N	0.940201	P	0.52170	0.951	B	0.42282	0.382	T	0.39623	-0.9605	10	0.30854	T	0.27	.	3.9153	0.09220	0.1009:0.6629:0.101:0.1352	.	177	Q9NY28	GALT8_HUMAN	S	177	ENSP00000252318:P177S	ENSP00000252318:P177S	P	+	1	0	GALNT8	4718609	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.117000	0.10708	-1.358000	0.02177	-0.258000	0.10820	CCT	-	GALNT8	-	NULL		0.393	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	0	0	0	77	77	82	0.00	0.00	C	NM_017417		4848348	+1	18	17	40	37	tier1	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	31.03	31.48	SNP	0.505	T	18	40
TRANK1	9881	genome.wustl.edu	37	3	36873197	36873197	+	Missense_Mutation	SNP	G	G	A	rs368052299		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36873197G>A	ENST00000429976.2	-	21	7992	c.7745C>T	c.(7744-7746)tCt>tTt	p.S2582F	TRANK1_ENST00000428977.2_Missense_Mutation_p.S2032F|TRANK1_ENST00000301807.6_Missense_Mutation_p.S2032F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2582							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCAGCCACAGACTTCACATT	0.582													ENSG00000168016																																					0													58.0	60.0	59.0					3																	36873197		2105	4230	6335	SO:0001583	missense	0			-	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7745C>T	3.37:g.36873197G>A	ENSP00000416168:p.Ser2582Phe		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.S2582F	ENST00000429976.2	37	c.7745	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678071	0.29783	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32272	1.46;1.87;1.46	5.41	3.6	0.41247	.	0.538297	0.16743	N	0.201372	T	0.27967	0.0689	M	0.63428	1.95	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32824	-0.9892	10	0.72032	D	0.01	.	4.4317	0.11531	0.0792:0.1142:0.5407:0.2659	.	2582	O15050	TRNK1_HUMAN	F	2032;2582;2032	ENSP00000416826:S2032F;ENSP00000416168:S2582F;ENSP00000301807:S2032F	ENSP00000301807:S2032F	S	-	2	0	TRANK1	36848201	0.996000	0.38824	0.387000	0.26183	0.996000	0.88848	3.810000	0.55613	0.767000	0.33267	0.561000	0.74099	TCT	-	TRANK1	-	NULL		0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		0	0	0	22	22	75	0.00	0.00	G	NM_014831		36873197	-1	12	25	17	48	tier1	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	41.38	34.25	SNP	0.155	A	12	17
ATAD2	29028	genome.wustl.edu	37	8	124359475	124359475	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:124359475G>A	ENST00000287394.5	-	16	2176	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.S8F	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	690					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCTCTTTGGGAGGCTGGTAT	0.453													ENSG00000156802																																					0													124.0	121.0	122.0					8																	124359475		2203	4300	6503	SO:0001583	missense	0			-	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2069C>T	8.37:g.124359475G>A	ENSP00000287394:p.Ser690Phe		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S690F	ENST00000287394.5	37	c.2069	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.247514	0.95305	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.93712	-3.27;0.2	5.49	5.49	0.81192	.	0.132495	0.52532	D	0.000065	D	0.96589	0.8887	M	0.84683	2.71	0.58432	D	0.999993	D	0.61697	0.99	P	0.58266	0.836	D	0.96858	0.9630	10	0.87932	D	0	-3.5213	19.7434	0.96241	0.0:0.0:1.0:0.0	.	690	Q6PL18	ATAD2_HUMAN	F	690;8	ENSP00000287394:S690F;ENSP00000429213:S8F	ENSP00000287394:S690F	S	-	2	0	ATAD2	124428656	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.809000	0.99208	2.716000	0.92895	0.591000	0.81541	TCC	-	ATAD2	-	NULL		0.453	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	0	0	0	61	61	69	0.00	0.00	G	NM_014109		124359475	-1	48	60	55	42	tier1	no_errors	ENST00000287394	ensembl	human	known	74_37	missense	46.60	58.25	SNP	1.000	A	48	55
CABIN1	23523	genome.wustl.edu	37	22	24483564	24483564	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:24483564C>T	ENST00000398319.2	+	23	3808	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	CABIN1_ENST00000405822.2_Silent_p.S1091S|CABIN1_ENST00000263119.5_Silent_p.S1141S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1141					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAACTTGTCCCTATGGATTG	0.562													ENSG00000099991																																					0													119.0	101.0	107.0					22																	24483564		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3423C>T	22.37:g.24483564C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1141	ENST00000398319.2	37	c.3423	CCDS13823.1	22																																																																																			-	CABIN1	-	NULL		0.562	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	0	0	0	46	46	118	0.00	0.00	C	NM_012295		24483564	+1	11	31	21	50	tier1	no_errors	ENST00000263119	ensembl	human	known	74_37	silent	34.38	38.27	SNP	0.962	T	11	21
STARD13	90627	genome.wustl.edu	37	13	33703736	33703736	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:33703736C>T	ENST00000336934.5	-	5	1194	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R	STARD13_ENST00000255486.4_Missense_Mutation_p.G352R|STARD13_ENST00000399365.3_Missense_Mutation_p.G242R	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	360					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TACATGCCCCCGCGCTTGTTG	0.612													ENSG00000133121																																					0													80.0	74.0	76.0					13																	33703736		2203	4300	6503	SO:0001583	missense	0			-	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1078G>A	13.37:g.33703736C>T	ENSP00000338785:p.Gly360Arg		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.G360R	ENST00000336934.5	37	c.1078	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766683	0.69878	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06142	3.34;3.34;3.35	5.82	5.82	0.92795	.	0.094242	0.64402	D	0.000001	T	0.09113	0.0225	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.49635	0.926;0.57;0.578;0.851	B;B;B;B	0.41619	0.361;0.306;0.161;0.26	T	0.32534	-0.9903	10	0.19147	T	0.46	.	15.266	0.73663	0.0:0.9311:0.0:0.0689	.	352;325;360;352	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	R	242;352;360;352	ENSP00000382300:G242R;ENSP00000255486:G352R;ENSP00000338785:G360R	ENSP00000255486:G352R	G	-	1	0	STARD13	32601736	0.945000	0.32115	0.969000	0.41365	0.991000	0.79684	2.017000	0.40981	2.748000	0.94277	0.655000	0.94253	GGG	-	STARD13	-	NULL		0.612	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	0	0	0	27	27	24	0.00	0.00	C	NM_001243466		33703736	-1	5	5	10	16	tier1	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	33.33	23.81	SNP	0.990	T	5	10
ZNF804A	91752	genome.wustl.edu	37	2	185731112	185731112	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:185731112A>C	ENST00000302277.6	+	2	722	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	43							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCTGAGAAGGAAAATACCATA	0.363													ENSG00000170396																																					0													61.0	60.0	60.0					2																	185731112		2203	4300	6503	SO:0001583	missense	0			-	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.128A>C	2.37:g.185731112A>C	ENSP00000303252:p.Glu43Ala		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E43A	ENST00000302277.6	37	c.128	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594618	0.86953	.	.	ENSG00000170396	ENST00000302277	T	0.10477	2.87	5.68	5.68	0.88126	.	0.135350	0.34200	N	0.004164	T	0.13927	0.0337	N	0.24115	0.695	0.48087	D	0.999585	D	0.59767	0.986	P	0.50659	0.647	T	0.01413	-1.1361	10	0.72032	D	0.01	-10.2156	15.4043	0.74866	1.0:0.0:0.0:0.0	.	43	Q7Z570	Z804A_HUMAN	A	43	ENSP00000303252:E43A	ENSP00000303252:E43A	E	+	2	0	ZNF804A	185439357	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.175000	0.77632	2.289000	0.77006	0.482000	0.46254	GAA	-	ZNF804A	-	NULL		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	0	0	0	85	85	77	0.00	0.00	A	NM_194250		185731112	+1	7	16	59	40	tier1	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	10.61	28.57	SNP	1.000	C	7	59
FAM184A	79632	genome.wustl.edu	37	6	119345477	119345477	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:119345477C>T	ENST00000338891.7	-	2	1104	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	FAM184A_ENST00000522284.1_Missense_Mutation_p.E101K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E221K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E101K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E101K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	221						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGTGTAGTTCCTCTGCCTTT	0.443													ENSG00000111879																																					0													136.0	123.0	127.0					6																	119345477		1950	4133	6083	SO:0001583	missense	0			-	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.661G>A	6.37:g.119345477C>T	ENSP00000342604:p.Glu221Lys		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.E221K	ENST00000338891.7	37	c.661	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863970	0.32884	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.81	4.94	0.65067	.	0.217508	0.47093	D	0.000259	T	0.20780	0.0500	L	0.59436	1.845	0.35426	D	0.793641	B;B;B	0.31949	0.348;0.348;0.348	B;B;B	0.33042	0.157;0.1;0.157	T	0.07385	-1.0775	10	0.22706	T	0.39	-3.1315	14.8843	0.70555	0.0:0.9311:0.0:0.0689	.	221;101;221	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	221;101;101;221;101	ENSP00000342604:E221K;ENSP00000326608:E101K;ENSP00000357460:E101K;ENSP00000430442:E221K;ENSP00000429826:E101K	ENSP00000342604:E221K	E	-	1	0	FAM184A	119387176	0.999000	0.42202	0.267000	0.24556	0.023000	0.10783	3.132000	0.50523	1.462000	0.47948	0.655000	0.94253	GAA	-	FAM184A	-	NULL		0.443	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	0	0	0	69	69	136	0.00	0.00	C	NM_024581		119345477	-1	9	44	19	67	tier1	no_errors	ENST00000338891	ensembl	human	known	74_37	missense	32.14	39.29	SNP	0.906	T	9	19
RRP15	51018	genome.wustl.edu	37	1	218475648	218475648	+	Missense_Mutation	SNP	C	C	T	rs566238943		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:218475648C>T	ENST00000366932.3	+	2	182	c.152C>T	c.(151-153)tCg>tTg	p.S51L	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	51						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGCTGTGGATCGGAAAAGGAC	0.458													ENSG00000067533	C|||	1	0.000199681	0.0	0.0	5008	,	,		18534	0.0		0.0	False		,,,				2504	0.001																0													112.0	114.0	113.0					1																	218475648		2203	4300	6503	SO:0001583	missense	0			-		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.152C>T	1.37:g.218475648C>T	ENSP00000355899:p.Ser51Leu			Missense_Mutation	SNP	pfam_DUF1665	p.S51L	ENST00000366932.3	37	c.152	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655937	0.14580	.	.	ENSG00000067533	ENST00000366932	T	0.25250	1.81	5.87	-10.6	0.00265	.	2.415100	0.01695	N	0.026850	T	0.12732	0.0309	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12167	-1.0558	10	0.27785	T	0.31	-8.1786	16.1452	0.81562	0.0:0.0967:0.0873:0.8161	.	51	Q9Y3B9	RRP15_HUMAN	L	51	ENSP00000355899:S51L	ENSP00000355899:S51L	S	+	2	0	RRP15	216542271	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.009000	0.13219	-2.059000	0.00894	-1.096000	0.02151	TCG	-	RRP15	-	NULL		0.458	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	0	0	0	40	40	98	0.00	0.00	C	NM_016052		218475648	+1	7	19	32	53	tier1	no_errors	ENST00000366932	ensembl	human	known	74_37	missense	17.95	25.68	SNP	0.000	T	7	32
GPR158	57512	genome.wustl.edu	37	10	25888186	25888186	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:25888186G>A	ENST00000376351.3	+	11	3990	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1211					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGAGATCTGGGATAGTTTTAA	0.443													ENSG00000151025																																					0													41.0	49.0	46.0					10																	25888186		2203	4299	6502	SO:0001583	missense	0			-	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3631G>A	10.37:g.25888186G>A	ENSP00000365529:p.Asp1211Asn		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.D1211N	ENST00000376351.3	37	c.3631	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941129	0.34283	.	.	ENSG00000151025	ENST00000376351	T	0.61392	0.11	5.92	5.92	0.95590	.	1.732400	0.03403	N	0.203650	T	0.49372	0.1553	N	0.08118	0	0.30457	N	0.774633	B	0.23058	0.079	B	0.26614	0.071	T	0.45469	-0.9259	10	0.25106	T	0.35	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1211	Q5T848	GP158_HUMAN	N	1211	ENSP00000365529:D1211N	ENSP00000365529:D1211N	D	+	1	0	GPR158	25928192	0.997000	0.39634	0.813000	0.32504	0.490000	0.33462	3.231000	0.51294	2.804000	0.96469	0.655000	0.94253	GAT	-	GPR158	-	NULL		0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	0	0	0	42	42	83	0.00	0.00	G	XM_166110		25888186	+1	21	38	26	79	tier1	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	44.68	32.48	SNP	0.871	A	21	26
ESYT1	23344	genome.wustl.edu	37	12	56524694	56524694	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:56524694G>A	ENST00000394048.5	+	3	816	c.552G>A	c.(550-552)gtG>gtA	p.V184V	ESYT1_ENST00000541590.1_Silent_p.V184V|ESYT1_ENST00000267113.4_Silent_p.V184V|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	184	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TTACACGAGTGGAACTGGGTG	0.532													ENSG00000139641																																					0													56.0	58.0	57.0					12																	56524694		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.552G>A	12.37:g.56524694G>A			A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.V184	ENST00000394048.5	37	c.552	CCDS8904.1	12																																																																																			-	ESYT1	-	NULL		0.532	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	0	0	0	67	67	137	0.00	0.00	G	NM_015292		56524694	+1	12	24	36	50	tier1	no_errors	ENST00000267113	ensembl	human	known	74_37	silent	25.00	32.43	SNP	1.000	A	12	36
PRDM15	63977	genome.wustl.edu	37	21	43221686	43221686	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:43221686G>A	ENST00000269844.3	-	31	4348	c.4238C>T	c.(4237-4239)aCc>aTc	p.T1413I	PRDM15_ENST00000447207.2_Missense_Mutation_p.T1047I|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1067I|PRDM15_ENST00000422911.1_Missense_Mutation_p.T1104I|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.T1084I	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCCGCTGACGGTATCAAAGGT	0.572													ENSG00000141956																																					0													66.0	59.0	62.0					21																	43221686		2203	4300	6503	SO:0001583	missense	0			-	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4238C>T	21.37:g.43221686G>A	ENSP00000269844:p.Thr1413Ile		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.T1413I	ENST00000269844.3	37	c.4238	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	g	14.98	2.696900	0.48202	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	4.29	4.29	0.51040	.	.	.	.	.	T	0.28632	0.0709	N	0.24115	0.695	0.43761	D	0.996275	P;P;P	0.50272	0.624;0.906;0.933	B;P;B	0.46585	0.12;0.521;0.386	T	0.16660	-1.0395	9	0.87932	D	0	-29.3512	15.7568	0.78037	0.0:0.0:1.0:0.0	.	1413;1104;1084	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	I	1104;1084;1067;1047;1413	ENSP00000408592:T1104I;ENSP00000381556:T1084I;ENSP00000444044:T1067I;ENSP00000390245:T1047I;ENSP00000269844:T1413I	ENSP00000269844:T1413I	T	-	2	0	PRDM15	42094755	1.000000	0.71417	0.944000	0.38274	0.301000	0.27625	9.105000	0.94246	1.934000	0.56057	0.558000	0.71614	ACC	-	PRDM15	-	NULL		0.572	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		0	0	0	56	56	82	0.00	0.00	G	NM_022115		43221686	-1	16	36	30	70	tier1	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	34.78	33.96	SNP	0.998	A	16	30
KIAA1033	23325	genome.wustl.edu	37	12	105515911	105515911	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:105515911C>T	ENST00000332180.5	+	10	768	c.681C>T	c.(679-681)gtC>gtT	p.V227V		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGAAATCTGTCCATCACAATC	0.289													ENSG00000136051																																					0													62.0	57.0	59.0					12																	105515911		1785	4062	5847	SO:0001819	synonymous_variant	0			-	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.681C>T	12.37:g.105515911C>T				Silent	SNP	NULL	p.V227	ENST00000332180.5	37	c.681	CCDS41826.1	12																																																																																			-	KIAA1033	-	NULL		0.289	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	0	0	0	152	152	100	0.00	0.00	C	NM_015275		105515911	+1	35	21	105	65	tier1	no_errors	ENST00000332180	ensembl	human	known	74_37	silent	25.00	24.14	SNP	1.000	T	35	105
SLC9C2	284525	genome.wustl.edu	37	1	173490500	173490500	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:173490500G>A	ENST00000367714.3	-	22	3101	c.2679C>T	c.(2677-2679)acC>acT	p.T893T	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	893					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CTTTACAAATGGTATCTCCAG	0.333													ENSG00000162753																																					0													63.0	62.0	62.0					1																	173490500		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2679C>T	1.37:g.173490500G>A			Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.T893	ENST00000367714.3	37	c.2679	CCDS1308.1	1																																																																																			-	SLC9C2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom		0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	0	0	0	222	222	66	0.00	0.00	G	NM_178527		173490500	-1	60	20	167	50	tier1	no_errors	ENST00000367714	ensembl	human	known	74_37	silent	26.43	28.57	SNP	0.999	A	60	167
TMEM132C	92293	genome.wustl.edu	37	12	129100730	129100730	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:129100730G>A	ENST00000435159.2	+	4	1155	c.1155G>A	c.(1153-1155)atG>atA	p.M385I	TMEM132C_ENST00000315208.8_Start_Codon_SNP_p.M1I	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	385						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTGTGCAGATGAACTTTGAAA	0.493													ENSG00000181234																																					0													87.0	77.0	80.0					12																	129100730		692	1591	2283	SO:0001583	missense	0			-	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1155G>A	12.37:g.129100730G>A	ENSP00000410852:p.Met385Ile		Q69YX8	Missense_Mutation	SNP	NULL	p.M385I	ENST00000435159.2	37	c.1155		12	.	.	.	.	.	.	.	.	.	.	G	9.958	1.222106	0.22457	.	.	ENSG00000181234	ENST00000435159;ENST00000315208	T;T	0.12569	2.67;3.38	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	T	0.11922	0.0290	L	0.28556	0.865	0.52501	D	0.999953	B	0.11235	0.004	B	0.12156	0.007	T	0.12426	-1.0548	10	0.15499	T	0.54	.	18.0827	0.89445	0.0:0.0:1.0:0.0	.	385	Q8N3T6	T132C_HUMAN	I	385;1	ENSP00000410852:M385I;ENSP00000324458:M1I	ENSP00000324458:M1I	M	+	3	0	TMEM132C	127666683	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	6.785000	0.75089	2.263000	0.75096	0.561000	0.74099	ATG	-	TMEM132C	-	NULL		0.493	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		0	0	1	58	58	75	0.00	1.32	G	XM_044062		129100730	+1	17	12	40	49	tier1	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	29.82	19.67	SNP	1.000	A	17	40
DNAH14	127602	genome.wustl.edu	37	1	225555685	225555685	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:225555685G>A	ENST00000445597.2	+	54	9205				DNAH14_ENST00000439375.2_Missense_Mutation_p.G3997E|DNAH14_ENST00000430092.1_Missense_Mutation_p.G3997E			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AAAAATTACGGAATATTGGGC	0.303													ENSG00000185842																																					0													63.0	56.0	58.0					1																	225555685		692	1591	2283	SO:0001627	intron_variant	0			-	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.9206-9273G>A	1.37:g.225555685G>A			A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.G3997E	ENST00000445597.2	37	c.11990		1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650665	0.67472	.	.	ENSG00000185842	ENST00000430092;ENST00000439375	T;T	0.12984	2.63;2.63	5.03	5.03	0.67393	.	.	.	.	.	T	0.40767	0.1130	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.34800	-0.9814	8	0.87932	D	0	.	17.4813	0.87673	0.0:0.0:1.0:0.0	.	3997	Q0VDD8-4	.	E	3997	ENSP00000414402:G3997E;ENSP00000392061:G3997E	ENSP00000414402:G3997E	G	+	2	0	DNAH14	223622308	1.000000	0.71417	0.155000	0.22561	0.786000	0.44442	5.381000	0.66208	2.500000	0.84329	0.508000	0.49915	GGA	-	DH14	-	pfam_Dynein_heavy_dom		0.303	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DH14	HGNC	protein_coding	OTTHUMT00000331217.3	0	0	0	141	141	135	0.00	0.00	G	XM_059166		225555685	+1	50	36	54	60	tier1	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	48.08	37.50	SNP	0.985	A	50	54
LRRC28	123355	genome.wustl.edu	37	15	99892629	99892629	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:99892629G>A	ENST00000301981.3	+	7	888	c.648G>A	c.(646-648)ctG>ctA	p.L216L	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Silent_p.L216L|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000422500.2_Silent_p.L147L|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	216										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			ACATTCACCTGAAAGGCTTGC	0.378													ENSG00000168904																																					0													169.0	155.0	160.0					15																	99892629		2197	4297	6494	SO:0001819	synonymous_variant	0			-	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.648G>A	15.37:g.99892629G>A			A8KA22|Q6UY49|Q6ZSS6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L216	ENST00000301981.3	37	c.648	CCDS10380.1	15																																																																																			-	LRRC28	-	NULL		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	0	0	0	126	126	74	0.00	0.00	G	NM_144598		99892629	+1	32	25	59	43	tier1	no_errors	ENST00000301981	ensembl	human	known	74_37	silent	35.16	36.76	SNP	1.000	A	32	59
SLC5A1	6523	genome.wustl.edu	37	22	32445989	32445989	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:32445989G>A	ENST00000266088.4	+	2	445	c.195G>A	c.(193-195)atG>atA	p.M65I		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	65					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GCCGAAGTATGGTGTGGTGGC	0.448													ENSG00000100170																																					0													203.0	193.0	197.0					22																	32445989		2203	4300	6503	SO:0001583	missense	0			-		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.195G>A	22.37:g.32445989G>A	ENSP00000266088:p.Met65Ile		B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.M65I	ENST00000266088.4	37	c.195	CCDS13902.1	22	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228878	0.58777	.	.	ENSG00000100170	ENST00000266088	D	0.88741	-2.42	5.55	5.55	0.83447	.	0.037021	0.85682	D	0.000000	D	0.88811	0.6538	M	0.70595	2.14	0.80722	D	1	B	0.17038	0.02	B	0.23852	0.049	D	0.85977	0.1480	10	0.62326	D	0.03	.	15.0099	0.71542	0.0:0.0:1.0:0.0	.	65	P13866	SC5A1_HUMAN	I	65	ENSP00000266088:M65I	ENSP00000266088:M65I	M	+	3	0	SLC5A1	30775989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.008000	0.70739	2.609000	0.88269	0.551000	0.68910	ATG	-	SLC5A1	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.448	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	HGNC	protein_coding	OTTHUMT00000075656.3	0	0	0	125	125	141	0.00	0.00	G	NM_000343		32445989	+1	36	60	95	105	tier1	no_errors	ENST00000266088	ensembl	human	known	74_37	missense	27.48	36.36	SNP	1.000	A	36	95
LINGO2	158038	genome.wustl.edu	37	9	27949180	27949180	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:27949180G>A	ENST00000379992.2	-	6	1939	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	LINGO2_ENST00000308675.3_Missense_Mutation_p.S497F	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	497	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CACAGTTAAGGAGGCTGTGAA	0.483													ENSG00000174482																																					0													115.0	114.0	114.0					9																	27949180		2203	4300	6503	SO:0001583	missense	0			-	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1490C>T	9.37:g.27949180G>A	ENSP00000369328:p.Ser497Phe		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S497F	ENST00000379992.2	37	c.1490	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062846	0.55432	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.69040	-0.37;-0.37	5.83	5.83	0.93111	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.16833	0.445	0.80722	D	1	P	0.40731	0.728	P	0.53988	0.739	T	0.62553	-0.6830	9	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	497	Q7L985	LIGO2_HUMAN	F	497	ENSP00000369328:S497F;ENSP00000310126:S497F	.	S	-	2	0	LINGO2	27939180	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.062000	0.89475	2.769000	0.95229	0.655000	0.94253	TCC	-	LINGO2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.483	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	0	0	0	90	90	128	0.00	0.00	G	NM_152570		27949180	-1	16	23	31	33	tier1	no_errors	ENST00000308675	ensembl	human	known	74_37	missense	34.04	41.07	SNP	1.000	A	16	31
ZMYM6NB	100506144	genome.wustl.edu	37	1	35449537	35449537	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:35449537G>A	ENST00000373337.3	-	2	167	c.120C>T	c.(118-120)ttC>ttT	p.F40F	ZMYM6_ENST00000373340.2_Missense_Mutation_p.R720C|ZMYM6_ENST00000487874.1_Missense_Mutation_p.R720C|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000493328.1_5'Flank	NM_001195156.1	NP_001182085.1	Q8NCS4	ZMYNB_HUMAN	ZMYM6 neighbor	40						integral component of membrane (GO:0016021)											CAAACTGCACGAACAGGGCAT	0.532													ENSG00000163867																																					0													87.0	83.0	85.0					1																	35449537		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS53296.1	1p34.3	2011-05-23			ENSG00000243749	ENSG00000243749			40021	protein-coding gene	gene with protein product							Standard	NM_001195156		Approved		uc001bye.3	Q8NCS4	OTTHUMG00000004158	ENST00000373337.3:c.120C>T	1.37:g.35449537G>A				Missense_Mutation	SNP	pfam_Znf_MYM,smart_TRASH_dom	p.R720C	ENST00000373337.3	37	c.2158	CCDS53296.1	1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827503	0.71143	.	.	ENSG00000163867	ENST00000373340	T	0.23552	1.9	5.05	-1.77	0.07982	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.58432	D	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.07888	-1.0749	8	0.87932	D	0	-16.9016	6.5216	0.22279	0.4311:0.2176:0.3514:0.0	.	720	O95789-1	.	C	720	ENSP00000362437:R720C	ENSP00000362437:R720C	R	-	1	0	ZMYM6	35222124	0.696000	0.27757	0.770000	0.31555	0.993000	0.82548	-0.053000	0.11846	-0.050000	0.13356	0.555000	0.69702	CGT	-	ZMYM6	-	NULL		0.532	ZMYM6NB-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011985.1	0	0	0	29	29	101	0.00	0.00	G			35449537	-1	8	27	22	110	tier1	no_errors	ENST00000373340	ensembl	human	known	74_37	missense	26.67	19.71	SNP	0.793	A	8	22
GRM2	2912	genome.wustl.edu	37	3	51751814	51751814	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:51751814C>T	ENST00000395052.3	+	5	2760	c.2526C>T	c.(2524-2526)gcC>gcT	p.A842A	GRM2_ENST00000442933.2_Silent_p.A564A|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	842					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCCAGGGCCAGCTCCAGCC	0.617													ENSG00000164082																																					0													44.0	44.0	44.0					3																	51751814		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2526C>T	3.37:g.51751814C>T			B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.A842	ENST00000395052.3	37	c.2526	CCDS2834.1	3																																																																																			-	GRM2	-	prints_GPCR_3_mtglu_rcpt_2		0.617	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	0	0	0	80	80	55	0.00	0.00	C			51751814	+1	30	15	37	22	tier1	no_errors	ENST00000395052	ensembl	human	known	74_37	silent	44.12	40.54	SNP	0.992	T	30	37
PCLO	27445	genome.wustl.edu	37	7	82451789	82451789	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:82451789G>A	ENST00000423517.2	-	0	15150				PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.9_Intron	NM_014510.2	NP_055325.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATGCTGAGGAATTTATTT	0.488													ENSG00000186472																																					0													102.0	107.0	105.0					7																	82451789		2011	4190	6201	SO:0001624	3_prime_UTR_variant	0			-	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000423517.2:c.*5C>T	7.37:g.82451789G>A				R	SNP	-	NULL	ENST00000423517.2	37	NULL	CCDS47631.1	7																																																																																			-	PCLO	-	-		0.488	PCLO-011	KNOWN	not_organism_supported|basic|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000377249.1	0	0	1	38	38	98	0.00	1.01	G	NM_014510		82451789	-1	5	17	23	55	tier1	no_errors	ENST00000426442	ensembl	human	known	74_37	rna	17.86	23.61	SNP	1.000	A	5	23
CACNA1D	776	genome.wustl.edu	37	3	53699708	53699708	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:53699708C>T	ENST00000350061.5	+	6	1299	c.788C>T	c.(787-789)tCc>tTc	p.S263F	CACNA1D_ENST00000288139.4_Missense_Mutation_p.S263F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S263F	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	263					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCCTGAACTCCATTATAAAA	0.343													ENSG00000157388																																					0													133.0	134.0	133.0					3																	53699708		2203	4300	6503	SO:0001583	missense	0			-	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.788C>T	3.37:g.53699708C>T	ENSP00000288133:p.Ser263Phe		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.S263F	ENST00000350061.5	37	c.788	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692038	0.88735	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	D;D;D	0.98835	-5.17;-5.17;-5.17	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99545	0.9837	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97810	1.0250	10	0.87932	D	0	.	18.6572	0.91458	0.0:1.0:0.0:0.0	.	263;263;263	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	F	263	ENSP00000288133:S263F;ENSP00000288139:S263F;ENSP00000409174:S263F	ENSP00000288139:S263F	S	+	2	0	CACNA1D	53674748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.630000	0.89119	0.655000	0.94253	TCC	-	CAC1D	-	pfam_Ion_trans_dom,prints_VDCCAlpha1		0.343	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC1D	HGNC	protein_coding	OTTHUMT00000350557.1	0	0	0	107	107	116	0.00	0.00	C	NM_000720		53699708	+1	31	33	107	102	tier1	no_errors	ENST00000288139	ensembl	human	known	74_37	missense	22.46	24.26	SNP	1.000	T	31	107
TTN	7273	genome.wustl.edu	37	2	179592524	179592524	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179592524T>C	ENST00000591111.1	-	66	19054	c.18830A>G	c.(18829-18831)aAg>aGg	p.K6277R	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K6594R|TTN_ENST00000342992.6_Missense_Mutation_p.K5350R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13054	Ig-like 44.				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)			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)			TAGTATTGCCTTAAATTCCAC	0.373													ENSG00000155657																																					0													113.0	111.0	112.0					2																	179592524		1851	4089	5940	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.18830A>G	2.37:g.179592524T>C	ENSP00000465570:p.Lys6277Arg		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.K5350R	ENST00000591111.1	37	c.16049		2	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669753	0.29693	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	5.99	5.99	0.97316	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69762	0.3147	N	0.22421	0.69	0.80722	D	1	D	0.54397	0.966	P	0.59595	0.86	T	0.74109	-0.3771	9	0.87932	D	0	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	6277	Q8WZ42	TITIN_HUMAN	R	5350	ENSP00000343764:K5350R	ENSP00000343764:K5350R	K	-	2	0	TTN	179300769	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.247000	0.72411	2.291000	0.77112	0.533000	0.62120	AAG	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	95	95	123	0.00	0.00	T	NM_133378		179592524	-1	31	35	40	65	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	43.66	35.00	SNP	1.000	C	31	40
CBLN4	140689	genome.wustl.edu	37	20	54573791	54573791	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:54573791C>T	ENST00000064571.2	-	3	1728	c.428G>A	c.(427-429)gGa>gAa	p.G143E		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	143	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TACTGGTTTTCCATTTAACAT	0.358													ENSG00000054803																																					0													61.0	59.0	59.0					20																	54573791		2203	4300	6503	SO:0001583	missense	0			-	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.428G>A	20.37:g.54573791C>T	ENSP00000064571:p.Gly143Glu		A8K0S5	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G143E	ENST00000064571.2	37	c.428	CCDS13448.1	20	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442828	0.43326	.	.	ENSG00000054803	ENST00000064571	T	0.44482	0.92	5.62	5.62	0.85841	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.58925	1.835	0.80722	D	1	B	0.21381	0.055	B	0.24006	0.05	T	0.28396	-1.0045	10	0.37606	T	0.19	-7.0945	19.6506	0.95805	0.0:1.0:0.0:0.0	.	143	Q9NTU7	CBLN4_HUMAN	E	143	ENSP00000064571:G143E	ENSP00000064571:G143E	G	-	2	0	CBLN4	54007198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.640000	0.89533	0.591000	0.81541	GGA	-	CBLN4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q		0.358	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN4	HGNC	protein_coding	OTTHUMT00000079783.2	0	0	0	78	78	133	0.00	0.00	C	NM_080617		54573791	-1	25	69	66	115	tier1	no_errors	ENST00000064571	ensembl	human	known	74_37	missense	27.47	37.50	SNP	1.000	T	25	66
TRPM3	80036	genome.wustl.edu	37	9	73376619	73376619	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:73376619C>T	ENST00000377111.2	-	8	1413	c.1170G>A	c.(1168-1170)agG>agA	p.R390R	TRPM3_ENST00000396285.1_Silent_p.R237R|TRPM3_ENST00000423814.3_Silent_p.R417R|TRPM3_ENST00000360823.2_Silent_p.R262R|TRPM3_ENST00000396292.4_Silent_p.R262R|TRPM3_ENST00000358082.3_Silent_p.R262R|TRPM3_ENST00000396280.5_Silent_p.R237R|TRPM3_ENST00000377101.1_Silent_p.R237R|TRPM3_ENST00000408909.2_Silent_p.R237R|TRPM3_ENST00000377106.1_Silent_p.R262R|TRPM3_ENST00000377110.3_Silent_p.R390R|TRPM3_ENST00000377105.1_Silent_p.R237R|TRPM3_ENST00000357533.2_Silent_p.R392R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	415					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACAGCTGGTCCCTCAAAGATT	0.408													ENSG00000083067																																					0													125.0	107.0	113.0					9																	73376619		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1170G>A	9.37:g.73376619C>T			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.R417	ENST00000377111.2	37	c.1251		9	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411597	0.25465	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	5.28	0.74379	.	.	.	.	.	T	0.72503	0.3468	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72283	-0.4339	4	.	.	.	-27.5698	15.8705	0.79117	0.0:0.9354:0.0:0.0646	.	.	.	.	R	237	.	.	G	-	1	0	TRPM3	72566439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.919000	0.40015	1.631000	0.50456	0.655000	0.94253	GGA	-	TRPM3	-	NULL		0.408	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	0	0	0	67	67	147	0.00	0.00	C	NM_206945		73376619	-1	48	65	17	49	tier1	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	73.85	57.02	SNP	1.000	T	48	17
CLEC19A	728276	genome.wustl.edu	37	16	19318954	19318954	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:19318954C>T	ENST00000493231.1	+	2	367				AC003003.5_ENST00000468219.1_RNA			Q6UXS0	CL19A_HUMAN	C-type lectin domain family 19, member A							extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)										CCACGCGGACCCAGAAGAAGA	0.587													ENSG00000188477																																					0																																										SO:0001627	intron_variant	0			-			16p12.3	2013-01-07			ENSG00000261210	ENSG00000261210		"""C-type lectin domain containing"""	34522	protein-coding gene	gene with protein product							Standard	NM_001256720		Approved		uc031qvg.1	Q6UXS0	OTTHUMG00000177218	ENST00000493231.1:c.254+8794C>T	16.37:g.19318954C>T			Q0VF32	R	SNP	-	NULL	ENST00000493231.1	37	NULL		16																																																																																			-	AC003003.5	-	-		0.587	CLEC19A-003	PUTATIVE	basic|exp_conf	protein_coding	ENSG00000188477	Clone_based_vega_gene	protein_coding	OTTHUMT00000438114.1	0	0	0	31	31	101	0.00	0.00	C	NM_00125672		19318954	+1	14	32	24	48	tier1	no_errors	ENST00000468219	ensembl	human	known	74_37	rna	36.84	40.00	SNP	0.955	T	14	24
DNAH5	1767	genome.wustl.edu	37	5	13770872	13770872	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:13770872C>T	ENST00000265104.4	-	56	9695	c.9591G>A	c.(9589-9591)cgG>cgA	p.R3197R	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3197R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGCCAGGGTCCGCACCTCCA	0.463									Kartagener syndrome				ENSG00000039139																																					2	Substitution - coding silent(2)	lung(1)|skin(1)											83.0	78.0	80.0					5																	13770872		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9591G>A	5.37:g.13770872C>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	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.R3197	ENST00000265104.4	37	c.9591	CCDS3882.1	5																																																																																			-	DH5	-	superfamily_P-loop_NTPase		0.463	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH5	HGNC	protein_coding	OTTHUMT00000207057.2	0	0	0	50	50	98	0.00	0.00	C	NM_001369		13770872	-1	19	44	20	65	tier1	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	47.50	40.37	SNP	0.994	T	19	20
SLC26A8	116369	genome.wustl.edu	37	6	35965594	35965594	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:35965594G>A	ENST00000490799.1	-	5	901	c.548C>T	c.(547-549)tCg>tTg	p.S183L	SLC26A8_ENST00000394602.2_Missense_Mutation_p.S183L|SLC26A8_ENST00000355574.2_Missense_Mutation_p.S183L	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAGGGGGCCGAAAACTCATT	0.458													ENSG00000112053																																					0													109.0	98.0	101.0					6																	35965594		2203	4300	6503	SO:0001583	missense	0			-	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.548C>T	6.37:g.35965594G>A	ENSP00000417638:p.Ser183Leu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S183L	ENST00000490799.1	37	c.548	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462498	0.43736	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95001	-3.31;-3.58;-3.31	5.82	4.87	0.63330	.	0.441548	0.22019	N	0.065753	D	0.92763	0.7699	L	0.54323	1.7	0.23293	N	0.997962	D;D	0.76494	0.998;0.999	P;P	0.55667	0.572;0.781	D	0.86941	0.2079	10	0.33940	T	0.23	.	12.8768	0.57994	0.0:0.0:0.827:0.173	.	183;183	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	L	183	ENSP00000417638:S183L;ENSP00000378100:S183L;ENSP00000347778:S183L	ENSP00000347778:S183L	S	-	2	0	SLC26A8	36073572	0.985000	0.35326	0.769000	0.31535	0.004000	0.04260	2.619000	0.46401	2.751000	0.94390	0.650000	0.86243	TCG	-	SLC26A8	-	NULL		0.458	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	0	0	1	95	95	152	0.00	0.65	G			35965594	-1	35	41	66	73	tier1	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	34.31	35.96	SNP	0.345	A	35	66
TTBK2	146057	genome.wustl.edu	37	15	43045091	43045091	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:43045091C>T	ENST00000267890.6	-	14	2461	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	785					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTATCTGACTCTAAAAGGATG	0.413													ENSG00000128881																																					0													148.0	136.0	140.0					15																	43045091		1861	4102	5963	SO:0001583	missense	0			-	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.2353G>A	15.37:g.43045091C>T	ENSP00000267890:p.Glu785Lys		O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E785K	ENST00000267890.6	37	c.2353	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941461	0.53079	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.38560	1.13	5.87	5.87	0.94306	.	0.553854	0.19814	N	0.105471	T	0.27731	0.0682	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06180	-1.0841	10	0.30854	T	0.27	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	716;785	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	K	785;715;1190	ENSP00000267890:E785K	ENSP00000263802:E1190K	E	-	1	0	TTBK2	40832383	0.934000	0.31675	0.854000	0.33618	0.891000	0.51852	2.579000	0.46059	2.785000	0.95823	0.655000	0.94253	GAG	-	TTBK2	-	NULL		0.413	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	0	0	0	71	71	136	0.00	0.00	C	NM_173500		43045091	-1	28	55	26	35	tier1	no_errors	ENST00000267890	ensembl	human	known	74_37	missense	51.85	60.44	SNP	0.978	T	28	26
FMN2	56776	genome.wustl.edu	37	1	240371408	240371408	+	Missense_Mutation	SNP	C	C	T	rs370099468	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:240371408C>T	ENST00000319653.9	+	5	3526	c.3296C>T	c.(3295-3297)cCg>cTg	p.P1099L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1099	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTA	0.731													ENSG00000155816	-|||	6	0.00119808	0.0045	0.0	5008	,	,		3202	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/PRO	6,3986		0,6,1990	6.0	8.0	7.0		3296	3.0	0.0	1		7	1,8095		0,1,4047	no	missense	FMN2	NM_020066.4	98	0,7,6037	TT,TC,CC		0.0124,0.1503,0.0579	benign	1099/1723	240371408	7,12081	1996	4048	6044	SO:0001583	missense	0			-	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3296C>T	1.37:g.240371408C>T	ENSP00000318884:p.Pro1099Leu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1099L	ENST00000319653.9	37	c.3296	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	c	9.243	1.038711	0.19669	0.001503	1.24E-4	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.0	3.0	0.34707	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.52532	U	0.000066	T	0.63295	0.2499	M	0.86740	2.835	0.49798	D	0.999825	B	0.29766	0.256	B	0.19148	0.024	T	0.67987	-0.5528	9	.	.	.	.	14.0458	0.64704	0.0:1.0:0.0:0.0	.	1099	Q9NZ56	FMN2_HUMAN	L	1099	ENSP00000318884:P1099L	.	P	+	2	0	FMN2	238438031	0.195000	0.23338	0.004000	0.12327	0.004000	0.04260	3.341000	0.52151	1.675000	0.50919	0.484000	0.47621	CCG	-	FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	0	0	0	73	73	15	0.00	0.00	C	XM_371352		240371408	+1	10	2	23	11	tier1	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	30.30	15.38	SNP	0.476	T	10	23
KIAA0368	23392	genome.wustl.edu	37	9	114182297	114182297	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:114182297G>A	ENST00000338205.5	-	15	1778	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	KIAA0368_ENST00000259335.4_Splice_Site_p.P698L			Q5VYK3	ECM29_HUMAN	KIAA0368	526					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGAAACTTACGGATCTCCTGC	0.343													ENSG00000136813																																					0													80.0	74.0	76.0					9																	114182297		1838	4092	5930	SO:0001630	splice_region_variant	0			-	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1559+1C>T	9.37:g.114182297G>A			O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P698L	ENST00000338205.5	37	c.2093		9	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550702	0.86127	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.67865	-0.29	5.46	5.46	0.80206	Armadillo-type fold (1);	0.057033	0.64402	D	0.000001	T	0.62097	0.2400	L	0.60455	1.87	0.80722	D	1	D	0.53745	0.962	B	0.36719	0.231	T	0.66304	-0.5957	9	.	.	.	-11.8019	19.3174	0.94220	0.0:0.0:1.0:0.0	.	526	Q5VYK3	ECM29_HUMAN	L	520;698	ENSP00000259335:P698L	.	P	-	2	0	KIAA0368	113222118	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.397000	0.97276	2.569000	0.86673	0.650000	0.86243	CCA	-	KIAA0368	-	superfamily_ARM-type_fold		0.343	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	0	0	0	176	176	95	0.00	0.00	G	NM_014686	Missense_Mutation	114182297	-1	76	39	59	31	tier1	no_errors	ENST00000259335	ensembl	human	known	74_37	missense	56.30	55.71	SNP	1.000	A	76	59
PRSS58	136541	genome.wustl.edu	37	7	141952291	141952291	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141952291C>T	ENST00000552471.1	-	4	896		c.e4+1		PRSS58_ENST00000547058.2_Splice_Site			Q8IYP2	PRS58_HUMAN	protease, serine, 58							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GAGTATTTTACCTTGCAGGGC	0.418													ENSG00000258223																																					0													145.0	134.0	138.0					7																	141952291		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.576+1G>A	7.37:g.141952291C>T			B3KVJ6|D3DXD2	Splice_Site	SNP	-	e4+1	ENST00000552471.1	37	c.576+1	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674837	0.47781	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7526	0.57316	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS58	141598769	1.000000	0.71417	0.998000	0.56505	0.511000	0.34104	4.967000	0.63722	2.723000	0.93209	0.655000	0.94253	.	-	PRSS58	-	-		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2	0	0	0	92	92	83	0.00	0.00	C	NM_001001317	Intron	141952291	-1	20	20	62	31	tier1	no_errors	ENST00000547058	ensembl	human	known	74_37	splice_site	24.39	39.22	SNP	1.000	T	20	62
OCIAD1	54940	genome.wustl.edu	37	4	48834668	48834668	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:48834668G>A	ENST00000381473.3	+	2	445	c.27G>A	c.(25-27)gaG>gaA	p.E9E	OCIAD1_ENST00000508293.1_Silent_p.E9E|OCIAD1_ENST00000509122.1_Silent_p.E9E|OCIAD1_ENST00000513391.2_Silent_p.E9E|OCIAD1_ENST00000396448.2_Silent_p.E9E|OCIAD1_ENST00000425583.2_Silent_p.E9E|OCIAD1_ENST00000444354.2_Silent_p.E9E|OCIAD1_ENST00000264312.7_Silent_p.E9E|OCIAD1_ENST00000512981.1_Intron|OCIAD1_ENST00000506801.1_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	9	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATTTTCGAGAGCCGAATGCAG	0.353													ENSG00000109180																																					0													153.0	172.0	165.0					4																	48834668		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.27G>A	4.37:g.48834668G>A			C9K030|G8JLN7|Q9BZE8	Silent	SNP	pfam_OCIA	p.E9	ENST00000381473.3	37	c.27	CCDS3484.1	4																																																																																			-	OCIAD1	-	NULL		0.353	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	0	0	0	180	180	87	0.00	0.00	G	NM_017830		48834668	+1	66	35	96	59	tier1	no_errors	ENST00000264312	ensembl	human	known	74_37	silent	40.74	37.23	SNP	1.000	A	66	96
TP53BP1	7158	genome.wustl.edu	37	15	43767783	43767783	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:43767783A>G	ENST00000263801.3	-	9	1302	c.1050T>C	c.(1048-1050)ctT>ctC	p.L350L	TP53BP1_ENST00000382044.4_Silent_p.L355L|TP53BP1_ENST00000450115.2_Silent_p.L355L|TP53BP1_ENST00000382039.3_Silent_p.L355L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	350					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGTCCTGAACAAGGGACCTCT	0.498								Other conserved DNA damage response genes					ENSG00000067369																																					0													98.0	104.0	102.0					15																	43767783		2201	4298	6499	SO:0001819	synonymous_variant	0			-	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1050T>C	15.37:g.43767783A>G			F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L355	ENST00000263801.3	37	c.1065	CCDS10096.1	15																																																																																			-	TP53BP1	-	NULL		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	0	0	0	66	66	91	0.00	0.00	A			43767783	-1	22	29	9	27	tier1	no_errors	ENST00000382044	ensembl	human	known	74_37	silent	70.97	50.00	SNP	0.996	G	22	9
LOC100129434	100129434	genome.wustl.edu	37	2	56403037	56403037	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:56403037G>A	ENST00000596663.1	-	0	706				RP11-481J13.1_ENST00000606639.1_lincRNA|AC007743.1_ENST00000447423.2_RNA|RP11-482H16.1_ENST00000607540.1_RNA|AC007743.1_ENST00000432793.1_RNA																							AGATCCTATGGGGGTGGGATT	0.478													ENSG00000233251																																					0																																												0			-																													2.37:g.56403037G>A				R	SNP	-	NULL	ENST00000596663.1	37	NULL		2																																																																																			-	AC007743.1	-	-		0.478	AC007743.1-005	KNOWN	basic	antisense	LOC100129434	Clone_based_vega_gene	antisense	OTTHUMT00000470756.1	0	0	0	23	23	97	0.00	0.00	G			56403037	-1	9	49	11	58	tier1	no_errors	ENST00000432793	ensembl	human	known	74_37	rna	45.00	45.79	SNP	0.007	A	9	11
NAV3	89795	genome.wustl.edu	37	12	78444660	78444660	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:78444660G>A	ENST00000397909.2	+	11	2422	c.2249G>A	c.(2248-2250)cGa>cAa	p.R750Q	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.R750Q|NAV3_ENST00000266692.7_Missense_Mutation_p.R750Q|NAV3_ENST00000536525.2_Missense_Mutation_p.R750Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	750						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R750Q(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCATGTCCGCGACTTCAGGCG	0.562										HNSCC(70;0.22)			ENSG00000067798																																					1	Substitution - Missense(1)	endometrium(1)											77.0	77.0	77.0					12																	78444660		2009	4174	6183	SO:0001583	missense	0			-	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2249G>A	12.37:g.78444660G>A	ENSP00000381007:p.Arg750Gln		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R750Q	ENST00000397909.2	37	c.2249		12	.	.	.	.	.	.	.	.	.	.	G	36	5.700038	0.96802	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.79	5.79	0.91817	.	0.000000	0.34853	U	0.003626	T	0.41858	0.1177	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.946;0.978;0.996	T	0.18587	-1.0332	10	0.87932	D	0	-11.7221	20.031	0.97536	0.0:0.0:1.0:0.0	.	750;750;750	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	Q	750	ENSP00000446132:R750Q;ENSP00000381007:R750Q;ENSP00000228327:R750Q;ENSP00000266692:R750Q	ENSP00000228327:R750Q	R	+	2	0	NAV3	76968791	1.000000	0.71417	0.682000	0.30024	0.969000	0.65631	9.383000	0.97214	2.735000	0.93741	0.655000	0.94253	CGA	-	V3	-	NULL		0.562	NAV3-001	KNOWN	basic	protein_coding	V3	HGNC	protein_coding	OTTHUMT00000406812.1	0	0	0	22	22	68	0.00	0.00	G	NM_001024383		78444660	+1	7	9	17	23	tier1	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	29.17	28.12	SNP	0.978	A	7	17
LRRC16A	55604	genome.wustl.edu	37	6	25492028	25492028	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:25492028C>T	ENST00000329474.6	+	14	1502	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	378					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGAATGTTCCCTGGACATGG	0.343													ENSG00000079691																																					0													41.0	37.0	38.0					6																	25492028		1782	4064	5846	SO:0001819	synonymous_variant	0			-	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1134C>T	6.37:g.25492028C>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S378	ENST00000329474.6	37	c.1134	CCDS54973.1	6																																																																																			-	LRRC16A	-	NULL		0.343	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	0	0	1	58	58	67	0.00	1.47	C	NM_017640		25492028	+1	7	14	33	26	tier1	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	17.50	35.00	SNP	0.779	T	7	33
GRID2	2895	genome.wustl.edu	37	4	94376855	94376855	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:94376855C>T	ENST00000282020.4	+	11	1846	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	GRID2_ENST00000510992.1_Missense_Mutation_p.R435C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	530					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CACTCCAGATCGTGAAAATGT	0.418													ENSG00000152208																																					0													117.0	110.0	112.0					4																	94376855		2203	4300	6503	SO:0001583	missense	0			-	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1588C>T	4.37:g.94376855C>T	ENSP00000282020:p.Arg530Cys		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R530C	ENST00000282020.4	37	c.1588	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248524	0.80024	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.70869	-0.52;-0.52	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.89901	0.6849	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92710	0.6182	10	0.87932	D	0	.	16.0625	0.80847	0.142:0.858:0.0:0.0	.	435;530	E9PH24;O43424	.;GRID2_HUMAN	C	530;435	ENSP00000282020:R530C;ENSP00000421257:R435C	ENSP00000282020:R530C	R	+	1	0	GRID2	94595878	1.000000	0.71417	0.987000	0.45799	0.776000	0.43924	5.028000	0.64115	2.836000	0.97738	0.655000	0.94253	CGT	-	GRID2	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	0	0	0	27	27	134	0.00	0.00	C			94376855	+1	13	45	12	40	tier1	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	52.00	52.94	SNP	1.000	T	13	12
KIR3DL1	3811	genome.wustl.edu	37	19	55341613	55341613	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55341613C>T	ENST00000391728.4	+	9	1251	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000538269.1_Silent_p.F406F|KIR3DL1_ENST00000326542.7_Silent_p.F389F|KIR3DL1_ENST00000541392.1_Silent_p.F389F|KIR3DL1_ENST00000358178.4_Silent_p.F311F|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	406					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACTGCGTTTTCACACAGAGAA	0.502													ENSG00000167633																																					0													258.0	239.0	246.0					19																	55341613		2171	4170	6341	SO:0001819	synonymous_variant	0			-	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1218C>T	19.37:g.55341613C>T			O43473|Q14946|Q16541	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.F406	ENST00000391728.4	37	c.1218	CCDS42621.1	19																																																																																			-	KIR3DL1	-	NULL		0.502	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	0	0	0	147	147	31	0.00	0.00	C	NM_013289		55341613	+1	54	11	75	10	tier1	no_errors	ENST00000391728	ensembl	human	known	74_37	silent	41.86	52.38	SNP	0.038	T	54	75
SALL1	6299	genome.wustl.edu	37	16	51171431	51171431	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:51171431G>A	ENST00000251020.4	-	3	3600	c.3567C>T	c.(3565-3567)acC>acT	p.T1189T	SALL1_ENST00000440970.1_Silent_p.T1092T|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Silent_p.T12T	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1189					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTCGTGCAGGGGTGCTATTCC	0.547													ENSG00000103449																									GBM(103;1352 1446 1855 4775 8890)												0													33.0	33.0	33.0					16																	51171431		2198	4300	6498	SO:0001819	synonymous_variant	0			-	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3567C>T	16.37:g.51171431G>A			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1189	ENST00000251020.4	37	c.3567	CCDS10747.1	16																																																																																			-	SALL1	-	pfscan_Znf_C2H2		0.547	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	0	0	0	52	52	17	0.00	0.00	G	NM_002968		51171431	-1	14	7	37	18	tier1	no_errors	ENST00000251020	ensembl	human	known	74_37	silent	27.45	28.00	SNP	0.998	A	14	37
ACKR2	1238	genome.wustl.edu	37	3	42906960	42906960	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:42906960C>T	ENST00000422265.1	+	3	1141	c.966C>T	c.(964-966)taC>taT	p.Y322Y	ACKR2_ENST00000273145.2_Silent_p.Y322Y|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.Y322Y|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	322					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TCCGCCAGTACCTGAAGGCTT	0.567													ENSG00000144648																																					0													132.0	106.0	115.0					3																	42906960		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.966C>T	3.37:g.42906960C>T			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.Y322	ENST00000422265.1	37	c.966	CCDS2706.1	3																																																																																			-	ACKR2	-	prints_Chemokine_rcpt		0.567	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACKR2	HGNC	protein_coding	OTTHUMT00000256645.2	0	0	1	31	31	94	0.00	1.05	C	NM_001296		42906960	+1	12	39	13	66	tier1	no_errors	ENST00000273145	ensembl	human	known	74_37	silent	48.00	37.14	SNP	0.798	T	12	13
OR2T8	343172	genome.wustl.edu	37	1	248084342	248084342	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:248084342C>T	ENST00000319968.4	+	1	23	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTATACCTCTTATTTCATT	0.408													ENSG00000177462																																					0													113.0	108.0	110.0					1																	248084342		2203	4300	6503	SO:0001583	missense	0			-		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.23C>T	1.37:g.248084342C>T	ENSP00000326225:p.Ser8Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S8F	ENST00000319968.4	37	c.23	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581274	0.28180	.	.	ENSG00000177462	ENST00000319968	T	0.00462	7.26	3.65	3.65	0.41850	.	1.930820	0.03577	U	0.229614	T	0.00998	0.0033	M	0.80746	2.51	0.09310	N	1	B	0.22800	0.075	B	0.31337	0.128	T	0.58075	-0.7700	10	0.72032	D	0.01	.	14.2676	0.66129	0.0:1.0:0.0:0.0	.	8	A6NH00	OR2T8_HUMAN	F	8	ENSP00000326225:S8F	ENSP00000326225:S8F	S	+	2	0	OR2T8	246150965	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	1.083000	0.30815	1.874000	0.54306	0.603000	0.83216	TCT	-	OR2T8	-	NULL		0.408	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	0	0	0	124	124	101	0.00	0.00	C	NM_001005522		248084342	+1	34	40	56	46	tier1	no_errors	ENST00000319968	ensembl	human	known	74_37	missense	37.78	46.51	SNP	0.016	T	34	56
SLC12A5	57468	genome.wustl.edu	37	20	44664103	44664103	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44664103A>T	ENST00000454036.2	+	3	326	c.277A>T	c.(277-279)Aac>Tac	p.N93Y	SLC12A5_ENST00000608944.1_Missense_Mutation_p.N19Y|SLC12A5_ENST00000243964.3_Missense_Mutation_p.N70Y|SLC12A5_ENST00000372315.1_Missense_Mutation_p.N70Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	93					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAACTACACCAACCTGCCCCA	0.577													ENSG00000124140																																					0													92.0	99.0	97.0					20																	44664103		2203	4300	6503	SO:0001583	missense	0			-	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.277A>T	20.37:g.44664103A>T	ENSP00000387694:p.Asn93Tyr		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N93Y	ENST00000454036.2	37	c.277	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379489	0.82682	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.95690	-2.0;-3.3;-3.78;-1.98	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.97399	0.9149	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.79784	0.984;0.993;0.957	D	0.97947	1.0329	10	0.72032	D	0.01	.	13.3322	0.60495	1.0:0.0:0.0:0.0	.	93;70;70	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	Y	93;70;70;70	ENSP00000387694:N93Y;ENSP00000361389:N70Y;ENSP00000446091:N70Y;ENSP00000243964:N70Y	ENSP00000243964:N70Y	N	+	1	0	SLC12A5	44097510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.695000	0.91298	2.019000	0.59389	0.460000	0.39030	AAC	-	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.577	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	0	0	0	54	54	68	0.00	0.00	A			44664103	+1	14	21	36	47	tier1	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	28.00	30.88	SNP	1.000	T	14	36
FCGR3A	2214	genome.wustl.edu	37	1	161518431	161518431	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:161518431T>G	ENST00000436743.1	-	4	253	c.99A>C	c.(97-99)caA>caC	p.Q33H	FCGR3A_ENST00000367969.3_Missense_Mutation_p.Q69H|FCGR3A_ENST00000443193.1_Missense_Mutation_p.Q68H|FCGR3A_ENST00000476031.1_5'UTR|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.Q33H	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	33	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCTGTACCATTGAGGCTCCA	0.547													ENSG00000203747																																					0													135.0	129.0	131.0					1																	161518431		2203	4300	6503	SO:0001583	missense	0			-	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.99A>C	1.37:g.161518431T>G	ENSP00000416607:p.Gln33His		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.Q69H	ENST00000436743.1	37	c.207	CCDS44266.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.33|15.33	2.802064|2.802064	0.50315|0.50315	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.08458	.|3.09;3.09;3.09;3.09;3.09;3.09	4.43|4.43	-3.92|-3.92	0.04155|0.04155	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|1.649840	.|0.03682	.|N	.|0.245773	T|T	0.11410|0.11410	0.0278|0.0278	M|M	0.80332|0.80332	2.49|2.49	0.09310|0.09310	N|N	0.999996|0.999996	.|D;D;P	.|0.56035	.|0.966;0.974;0.899	.|P;P;P	.|0.55713	.|0.671;0.596;0.782	T|T	0.21586|0.21586	-1.0241|-1.0241	5|10	.|0.87932	.|D	.|0	.|.	11.2264|11.2264	0.48886|0.48886	0.0:0.5996:0.0:0.4004|0.0:0.5996:0.0:0.4004	.|.	.|33;68;33	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	T|H	50|69;68;33;33;33;32	.|ENSP00000356946:Q69H;ENSP00000392047:Q68H;ENSP00000416607:Q33H;ENSP00000356944:Q33H;ENSP00000444971:Q33H;ENSP00000396567:Q32H	.|ENSP00000356944:Q33H	N|Q	-|-	2|3	0|2	FCGR3A|FCGR3A	159785055|159785055	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.006000|0.006000	0.05464|0.05464	-1.438000|-1.438000	0.02416|0.02416	-0.916000|-0.916000	0.03818|0.03818	0.482000|0.482000	0.46254|0.46254	AAT|CAA	-	FCGR3A	-	smart_Ig_sub,pfscan_Ig-like_dom		0.547	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR3A	HGNC	protein_coding	OTTHUMT00000102169.2	0	0	0	112	112	81	0.00	0.00	T	NM_000569		161518431	-1	16	7	83	48	tier1	no_errors	ENST00000367969	ensembl	human	known	74_37	missense	16.16	12.73	SNP	0.007	G	16	83
ZNF578	147660	genome.wustl.edu	37	19	53015037	53015037	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:53015037C>T	ENST00000421239.2	+	6	1647	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S468*(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGTCAGAAATCAAACCTTGAG	0.393													ENSG00000258405																																					1	Substitution - Nonsense(1)	lung(1)											58.0	63.0	61.0					19																	53015037		2200	4299	6499	SO:0001583	missense	0			-	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1403C>T	19.37:g.53015037C>T	ENSP00000459216:p.Ser468Leu		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S468L	ENST00000421239.2	37	c.1403	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	13.05	2.121819	0.37436	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	0.0408	0.14211	.	.	.	.	.	T	0.65101	0.2659	M	0.81802	2.56	0.09310	N	1	D	0.61080	0.989	D	0.72625	0.978	T	0.52071	-0.8624	7	.	.	.	.	8.6566	0.34066	0.0:0.7626:0.2374:0.0	.	468	G3V4F6	.	L	468	.	.	S	+	2	0	ZNF578	57706849	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.798000	0.04565	0.835000	0.34877	0.297000	0.19635	TCA	-	ZNF578	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	0	0	0	90	90	20	0.00	0.00	C	NM_152472		53015037	+1	33	11	32	14	tier1	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	50.77	42.31	SNP	0.000	T	33	32
TIE1	7075	genome.wustl.edu	37	1	43785016	43785016	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:43785016G>A	ENST00000372476.3	+	18	3112	c.3033G>A	c.(3031-3033)acG>acA	p.T1011T	TIE1_ENST00000433781.2_Silent_p.T656T|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1011	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAAGACGATGGTGAGTC	0.587													ENSG00000066056																																					0													104.0	95.0	98.0					1																	43785016		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3033G>A	1.37:g.43785016G>A			B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T1011	ENST00000372476.3	37	c.3033	CCDS482.1	1																																																																																			-	TIE1	-	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		0.587	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	0	0	0	51	51	59	0.00	0.00	G	NM_005424		43785016	+1	18	38	19	47	tier1	no_errors	ENST00000372476	ensembl	human	known	74_37	silent	48.65	44.71	SNP	0.004	A	18	19
HYOU1	10525	genome.wustl.edu	37	11	118917283	118917283	+	Missense_Mutation	SNP	G	G	A	rs201317769		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:118917283G>A	ENST00000404233.3	-	23	2951	c.2827C>T	c.(2827-2829)Cct>Tct	p.P943S	HYOU1_ENST00000529972.1_Missense_Mutation_p.P881S|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Missense_Mutation_p.P881S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	943					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCTGCTGGAGGGATGACCTTC	0.597													ENSG00000149428	G|||	1	0.000199681	0.0	0.0	5008	,	,		18324	0.0		0.001	False		,,,				2504	0.0																0													135.0	130.0	132.0					11																	118917283		2200	4295	6495	SO:0001583	missense	0			GMAF=0.0005	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2827C>T	11.37:g.118917283G>A	ENSP00000384144:p.Pro943Ser		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P943S	ENST00000404233.3	37	c.2827	CCDS8408.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.37	2.516244	0.44763	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01464	4.86;4.89;4.89	6.04	5.12	0.69794	.	0.169319	0.53938	D	0.000049	T	0.02571	0.0078	L	0.41710	1.295	0.80722	D	1	P;P;P;P	0.45348	0.856;0.546;0.856;0.856	B;B;B;B	0.42462	0.388;0.136;0.388;0.388	T	0.66052	-0.6019	10	0.13108	T	0.6	-0.8991	16.826	0.85931	0.0:0.0:0.8704:0.1296	.	934;925;943;943	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	S	943;934;881;792;881;924	ENSP00000384144:P943S;ENSP00000437313:P881S;ENSP00000433397:P881S	ENSP00000278752:P934S	P	-	1	0	HYOU1	118422493	1.000000	0.71417	0.491000	0.27477	0.253000	0.25986	8.973000	0.93428	1.556000	0.49512	-0.310000	0.09108	CCT	rs201317769	HYOU1	-	NULL		0.597	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	0	0	0	48	48	112	0.00	0.00	G	NM_006389		118917283	-1	6	11	47	76	tier1	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	11.32	12.64	SNP	0.997	A	6	47
IL5RA	3568	genome.wustl.edu	37	3	3146626	3146626	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:3146626T>C	ENST00000446632.2	-	3	617	c.43A>G	c.(43-45)Act>Gct	p.T15A	IL5RA_ENST00000445864.2_Missense_Mutation_p.T15A|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000430514.2_Missense_Mutation_p.T15A|IL5RA_ENST00000256452.3_Missense_Mutation_p.T15A|IL5RA_ENST00000456302.1_Missense_Mutation_p.T15A|IL5RA_ENST00000438560.1_Missense_Mutation_p.T15A|IL5RA_ENST00000383846.1_Missense_Mutation_p.T15A|IL5RA_ENST00000418488.2_Missense_Mutation_p.T15A|IL5RA_ENST00000311981.8_Missense_Mutation_p.T15A	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	15					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGTATCTCAGTGGCCCCCAAA	0.338													ENSG00000091181																									GBM(169;430 2801 24955 28528)												0													97.0	96.0	96.0					3																	3146626		2203	4300	6503	SO:0001583	missense	0			-	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.43A>G	3.37:g.3146626T>C	ENSP00000412209:p.Thr15Ala		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.T15A	ENST00000446632.2	37	c.43	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	T	2.420	-0.333254	0.05278	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.86694	-2.16;-2.07;-2.16;1.33;1.57;1.36;1.36;1.36;1.36;1.58	5.6	-10.5	0.00291	.	1.987940	0.02105	N	0.054303	T	0.77082	0.4078	L	0.38838	1.175	0.09310	N	1	B;B;B;B;B;B	0.18166	0.0;0.001;0.001;0.0;0.026;0.004	B;B;B;B;B;B	0.15052	0.0;0.001;0.001;0.0;0.012;0.001	T	0.60172	-0.7315	10	0.26408	T	0.33	0.1039	8.4101	0.32638	0.2919:0.4938:0.0:0.2143	.	15;15;15;15;15;15	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	A	15	ENSP00000412209:T15A;ENSP00000390753:T15A;ENSP00000256452:T15A;ENSP00000388858:T15A;ENSP00000402598:T15A;ENSP00000373358:T15A;ENSP00000309196:T15A;ENSP00000400400:T15A;ENSP00000392059:T15A;ENSP00000398117:T15A	ENSP00000256452:T15A	T	-	1	0	IL5RA	3121626	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.380000	0.02551	-2.043000	0.00913	-1.862000	0.00560	ACT	-	IL5RA	-	NULL		0.338	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	0	0	0	123	123	131	0.00	0.00	T			3146626	-1	32	36	82	85	tier1	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	28.07	29.75	SNP	0.000	C	32	82
STARD13	90627	genome.wustl.edu	37	13	33700362	33700362	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:33700362G>A	ENST00000336934.5	-	7	2054	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	STARD13_ENST00000255486.4_Silent_p.F638F|STARD13_ENST00000399365.3_Silent_p.F528F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	646					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCCTCTTCATGAACTTTGGAA	0.512													ENSG00000133121																																					0													152.0	148.0	150.0					13																	33700362		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1938C>T	13.37:g.33700362G>A			A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.F646	ENST00000336934.5	37	c.1938	CCDS9348.1	13																																																																																			-	STARD13	-	NULL		0.512	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	0	0	0	39	39	119	0.00	0.00	G	NM_001243466		33700362	-1	8	12	27	60	tier1	no_errors	ENST00000336934	ensembl	human	known	74_37	silent	22.86	16.67	SNP	1.000	A	8	27
CLEC4D	338339	genome.wustl.edu	37	12	8673727	8673727	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:8673727C>A	ENST00000299665.2	+	6	701	c.508C>A	c.(508-510)Cat>Aat	p.H170N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	170	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CAGATTCTGGCATAAGAATGA	0.338													ENSG00000166527																																					0													119.0	114.0	116.0					12																	8673727		2203	4300	6503	SO:0001583	missense	0			-	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.508C>A	12.37:g.8673727C>A	ENSP00000299665:p.His170Asn		Q8N5J5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.H170N	ENST00000299665.2	37	c.508	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	C	4.603	0.112097	0.08831	.	.	ENSG00000166527	ENST00000299665	T	0.16324	2.35	4.22	0.586	0.17434	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.12902	0.0313	L	0.31420	0.93	0.20638	N	0.99987	B	0.30634	0.288	B	0.38194	0.267	T	0.41998	-0.9477	9	0.19590	T	0.45	.	6.6805	0.23117	0.3293:0.3744:0.2964:0.0	.	170	Q8WXI8	CLC4D_HUMAN	N	170	ENSP00000299665:H170N	ENSP00000299665:H170N	H	+	1	0	CLEC4D	8564994	0.129000	0.22400	0.251000	0.24312	0.025000	0.11179	0.031000	0.13710	0.093000	0.17368	-0.195000	0.12781	CAT	-	CLEC4D	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.338	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	HGNC	protein_coding	OTTHUMT00000400565.1	0	0	0	78	78	108	0.00	0.00	C	NM_080387		8673727	+1	11	25	66	54	tier1	no_errors	ENST00000299665	ensembl	human	known	74_37	missense	14.29	31.65	SNP	0.265	A	11	66
PUM1	9698	genome.wustl.edu	37	1	31447610	31447610	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:31447610G>A	ENST00000257075.5	-	10	1487	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	PUM1_ENST00000373742.2_Missense_Mutation_p.P406L|PUM1_ENST00000440538.2_Missense_Mutation_p.P466L|PUM1_ENST00000373747.3_Missense_Mutation_p.P466L|PUM1_ENST00000426105.2_Missense_Mutation_p.P465L|PUM1_ENST00000423018.2_Missense_Mutation_p.P369L|PUM1_ENST00000424085.2_Missense_Mutation_p.P223L|PUM1_ENST00000373741.4_Missense_Mutation_p.P501L|PUM1_ENST00000490546.1_5'UTR	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	465	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GACTCCCCAGGGAGTAACTCC	0.507													ENSG00000134644																																					0													42.0	42.0	42.0					1																	31447610		2203	4300	6503	SO:0001583	missense	0			-	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1394C>T	1.37:g.31447610G>A	ENSP00000257075:p.Pro465Leu		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_R-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_R-bd_rpt,pfscan_Pumilio_R-bd_rpt	p.P465L	ENST00000257075.5	37	c.1394	CCDS338.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.571791	0.96553	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	T;T;T;T;T;T;T;T	0.60548	1.81;1.3;1.63;1.61;1.52;1.57;0.18;1.51	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.987;0.999;0.994;0.999;0.999;0.999;0.999	T	0.77281	-0.2646	10	0.87932	D	0	-8.5598	20.8598	0.99761	0.0:0.0:1.0:0.0	.	406;369;501;466;465;465;466;465	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	L	223;465;466;203;465;466;501;369;406;465	ENSP00000400141:P223L;ENSP00000257075:P465L;ENSP00000362852:P466L;ENSP00000391723:P465L;ENSP00000401777:P466L;ENSP00000362846:P501L;ENSP00000399440:P369L;ENSP00000362847:P406L	ENSP00000257075:P465L	P	-	2	0	PUM1	31220197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.775000	0.98995	2.937000	0.99478	0.650000	0.86243	CCC	-	PUM1	-	NULL		0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	0	0	0	93	93	83	0.00	0.00	G			31447610	-1	46	43	38	56	tier1	no_errors	ENST00000426105	ensembl	human	known	74_37	missense	54.76	43.43	SNP	1.000	A	46	38
C11orf85	283129	genome.wustl.edu	37	11	64717233	64717233	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64717233G>A	ENST00000301896.5	-	6	404	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	C11orf85_ENST00000536065.1_Missense_Mutation_p.H5Y|C11orf85_ENST00000432175.1_Missense_Mutation_p.H111Y|C11orf85_ENST00000530444.1_Intron	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	111										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						AGGTTTTCATGGAACCATTTC	0.433													ENSG00000168070																																					0													142.0	132.0	136.0					11																	64717233		2201	4297	6498	SO:0001583	missense	0			-	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.331C>T	11.37:g.64717233G>A	ENSP00000301896:p.His111Tyr		B3KS99	Missense_Mutation	SNP	NULL	p.H111Y	ENST00000301896.5	37	c.331	CCDS31603.1	11	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122316	0.37436	.	.	ENSG00000168070	ENST00000536065;ENST00000301896;ENST00000432175	.	.	.	5.22	3.28	0.37604	.	0.728933	0.12731	N	0.443849	T	0.41994	0.1183	L	0.54323	1.7	0.22500	N	0.999047	P	0.42296	0.775	B	0.44044	0.439	T	0.20571	-1.0271	9	0.49607	T	0.09	-15.4898	8.597	0.33721	0.0:0.1742:0.658:0.1678	.	111	Q3KP22	CK085_HUMAN	Y	5;111;111	.	ENSP00000301896:H111Y	H	-	1	0	C11orf85	64473809	1.000000	0.71417	0.974000	0.42286	0.960000	0.62799	1.366000	0.34193	0.682000	0.31407	0.644000	0.83932	CAT	-	C11orf85	-	NULL		0.433	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf85	HGNC	protein_coding	OTTHUMT00000385477.1	0	0	0	86	86	110	0.00	0.00	G	NM_001037225		64717233	-1	22	35	47	70	tier1	no_errors	ENST00000301896	ensembl	human	known	74_37	missense	31.88	33.33	SNP	0.920	A	22	47
GPATCH1	55094	genome.wustl.edu	37	19	33608775	33608775	+	Silent	SNP	C	C	T	rs147838171		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:33608775C>T	ENST00000170564.2	+	16	2555	c.2241C>T	c.(2239-2241)agC>agT	p.S747S		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	747					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGAAGGGAGCCGCCCATCCA	0.502													ENSG00000076650																									Pancreas(67;88 1713 4567 18227)												0													106.0	98.0	101.0					19																	33608775		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2241C>T	19.37:g.33608775C>T			Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.S747	ENST00000170564.2	37	c.2241	CCDS12428.1	19																																																																																			-	GPATCH1	-	NULL		0.502	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	0	0	1	29	29	116	0.00	0.85	C	NM_018025		33608775	+1	18	52	21	95	tier1	no_errors	ENST00000170564	ensembl	human	known	74_37	silent	46.15	35.37	SNP	0.903	T	18	21
UVRAG	7405	genome.wustl.edu	37	11	75826996	75826996	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:75826996C>T	ENST00000356136.3	+	14	1575	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L	UVRAG_ENST00000531818.1_Missense_Mutation_p.P73L|UVRAG_ENST00000528420.1_Missense_Mutation_p.P344L|UVRAG_ENST00000533454.1_Missense_Mutation_p.P73L|UVRAG_ENST00000532130.1_Missense_Mutation_p.P73L|UVRAG_ENST00000539288.1_Missense_Mutation_p.P73L|UVRAG_ENST00000538870.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	445					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTAGGGACTCCAGACTTGCGG	0.393													ENSG00000198382																																					0													93.0	81.0	85.0					11																	75826996		2200	4293	6493	SO:0001583	missense	0			-	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1334C>T	11.37:g.75826996C>T	ENSP00000348455:p.Pro445Leu		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.P445L	ENST00000356136.3	37	c.1334	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828838	0.71258	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288	T;T	0.33654	1.4;1.4	5.69	5.69	0.88448	.	0.099426	0.64402	D	0.000001	T	0.22475	0.0542	N	0.16708	0.43	0.80722	D	1	P	0.40638	0.725	B	0.37480	0.251	T	0.04593	-1.0940	10	0.06757	T	0.87	-9.8812	17.6702	0.88214	0.0:1.0:0.0:0.0	.	445	Q9P2Y5	UVRAG_HUMAN	L	445;344;73;73;73;73	ENSP00000348455:P445L;ENSP00000436039:P344L	ENSP00000348455:P445L	P	+	2	0	UVRAG	75504644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.753000	0.74904	2.840000	0.97914	0.655000	0.94253	CCA	-	UVRAG	-	NULL		0.393	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1	0	0	0	102	102	113	0.00	0.00	C	NM_003369		75826996	+1	43	48	56	57	tier1	no_errors	ENST00000356136	ensembl	human	known	74_37	missense	43.43	45.71	SNP	1.000	T	43	56
CTLA4	1493	genome.wustl.edu	37	2	204735524	204735524	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:204735524G>A	ENST00000302823.3	+	2	482	c.325G>A	c.(325-327)Gga>Aga	p.G109R	CTLA4_ENST00000427473.2_Missense_Mutation_p.G72R|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000295854.6_Missense_Mutation_p.G109R|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	109	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	CACCTCCAGTGGAAATCAAGT	0.547													ENSG00000163599																																					0													144.0	124.0	131.0					2																	204735524		2203	4300	6503	SO:0001583	missense	0			-		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.325G>A	2.37:g.204735524G>A	ENSP00000303939:p.Gly109Arg		A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,prints_CTLA4	p.G109R	ENST00000302823.3	37	c.325	CCDS2362.1	2	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579150	0.46006	.	.	ENSG00000163599	ENST00000302823;ENST00000295854;ENST00000427473	T;T;T	0.51325	0.71;0.71;0.71	5.25	5.25	0.73442	Immunoglobulin V-set (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.484381	0.22034	N	0.065555	T	0.54838	0.1883	L	0.36672	1.1	0.20403	N	0.999909	D;B	0.67145	0.996;0.11	D;B	0.68621	0.959;0.159	T	0.46133	-0.9213	10	0.22706	T	0.39	-14.1618	12.9577	0.58441	0.0:0.2756:0.7244:0.0	.	109;109	Q8TDA6;P16410	.;CTLA4_HUMAN	R	109;109;72	ENSP00000303939:G109R;ENSP00000295854:G109R;ENSP00000409707:G72R	ENSP00000295854:G109R	G	+	1	0	CTLA4	204443769	0.419000	0.25449	0.996000	0.52242	0.970000	0.65996	2.313000	0.43735	2.444000	0.82710	0.591000	0.81541	GGA	-	CTLA4	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr		0.547	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTLA4	HGNC	protein_coding	OTTHUMT00000256365.1	0	0	1	88	88	117	0.00	0.85	G	NM_005214		204735524	+1	8	11	53	74	tier1	no_errors	ENST00000302823	ensembl	human	known	74_37	missense	13.11	12.94	SNP	0.431	A	8	53
FRY	10129	genome.wustl.edu	37	13	32698812	32698812	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:32698812A>G	ENST00000380250.3	+	6	1125	c.629A>G	c.(628-630)aAa>aGa	p.K210R		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	210						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTAAATACAAAGAAGGGTAA	0.343													ENSG00000073910																																					0													60.0	56.0	57.0					13																	32698812		1828	4082	5910	SO:0001583	missense	0			-	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.629A>G	13.37:g.32698812A>G	ENSP00000369600:p.Lys210Arg		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K210R	ENST00000380250.3	37	c.629	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075847	0.55646	.	.	ENSG00000073910	ENST00000380250	T	0.23348	1.91	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	N	0.05592	-0.015	0.80722	D	1	B	0.32968	0.392	B	0.40982	0.345	T	0.18808	-1.0325	10	0.17832	T	0.49	.	15.5243	0.75890	1.0:0.0:0.0:0.0	.	210	Q5TBA9	FRY_HUMAN	R	210	ENSP00000369600:K210R	ENSP00000369600:K210R	K	+	2	0	FRY	31596812	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.522000	0.81844	2.081000	0.62600	0.459000	0.35465	AAA	-	FRY	-	NULL		0.343	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	0	0	0	119	119	112	0.00	0.00	A	NM_023037		32698812	+1	25	22	70	57	tier1	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	26.32	27.85	SNP	1.000	G	25	70
TOPAZ1	375337	genome.wustl.edu	37	3	44285650	44285650	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:44285650C>T	ENST00000309765.4	+	2	1820	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	551						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										TTACAAAGTTCCTTAACAGAA	0.338													ENSG00000173769																																					0													47.0	38.0	41.0					3																	44285650		692	1590	2282	SO:0001583	missense	0			-	AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.1652C>T	3.37:g.44285650C>T	ENSP00000310303:p.Ser551Phe			Missense_Mutation	SNP	NULL	p.S551F	ENST00000309765.4	37	c.1652	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770667	0.31320	.	.	ENSG00000173769	ENST00000309765	T	0.12465	2.68	5.77	4.71	0.59529	.	0.334744	0.28354	N	0.015647	T	0.11707	0.0285	L	0.32530	0.975	0.09310	N	1	B	0.27140	0.169	B	0.25884	0.064	T	0.15263	-1.0443	10	0.33940	T	0.23	-0.2411	13.965	0.64202	0.0:0.9176:0.0:0.0824	.	551	Q8N9V7	CC077_HUMAN	F	551	ENSP00000310303:S551F	ENSP00000310303:S551F	S	+	2	0	C3orf77	44260654	0.002000	0.14202	0.098000	0.21074	0.816000	0.46133	1.272000	0.33109	2.728000	0.93425	0.650000	0.86243	TCC	-	TOPAZ1	-	NULL		0.338	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1	0	0	1	144	144	163	0.00	0.61	C	NM_001145030		44285650	+1	50	68	101	122	tier1	no_errors	ENST00000309765	ensembl	human	known	74_37	missense	33.11	35.79	SNP	0.023	T	50	101
TRIML2	205860	genome.wustl.edu	37	4	189012654	189012654	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:189012654G>A	ENST00000512729.1	-	7	1411	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	TRIML2_ENST00000326754.3_Missense_Mutation_p.S371F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	346	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGCGCAATGGGAGAAATTGTA	0.483													ENSG00000179046																																					0													152.0	158.0	156.0					4																	189012654		2203	4300	6503	SO:0001583	missense	0			-	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1037C>T	4.37:g.189012654G>A	ENSP00000422581:p.Ser346Phe		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.S346F	ENST00000512729.1	37	c.1037	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627891	0.46944	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.70516	-0.49;-0.49	5.85	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.49916	D	0.000121	D	0.84275	0.5436	M	0.89214	3.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.85387	0.1123	10	0.66056	D	0.02	.	9.5672	0.39405	0.1554:0.0:0.8446:0.0	.	371;346	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	F	346;371	ENSP00000422581:S346F;ENSP00000317498:S371F	ENSP00000317498:S371F	S	-	2	0	TRIML2	189249648	0.996000	0.38824	0.969000	0.41365	0.020000	0.10135	2.649000	0.46656	2.941000	0.99782	0.655000	0.94253	TCC	-	TRIML2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	0	0	0	74	74	150	0.00	0.00	G	NM_173553		189012654	-1	41	60	29	45	tier1	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	58.57	57.14	SNP	0.965	A	41	29
ALMS1P	200420	genome.wustl.edu	37	2	73912407	73912407	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:73912407G>A	ENST00000450720.1	+	0	1305					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												gctttccgggggctggaggag	0.408													ENSG00000163016																																					0																																												0			-	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73912407G>A				R	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			-	ALMS1P	-	-		0.408	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	0	0	0	11	11	126	0.00	0.00	G	NR_003683		73912407	+1	6	53	4	62	tier1	no_errors	ENST00000450720	ensembl	human	known	74_37	rna	60.00	45.69	SNP	0.002	A	6	4
COL6A6	131873	genome.wustl.edu	37	3	130292993	130292993	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:130292993C>T	ENST00000358511.6	+	7	3202	c.3171C>T	c.(3169-3171)ttC>ttT	p.F1057F	COL6A6_ENST00000453409.2_Silent_p.F1057F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1057	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGGAACTTTCATAGGTGAAA	0.448													ENSG00000206384																																					0													61.0	59.0	60.0					3																	130292993		1868	4113	5981	SO:0001819	synonymous_variant	0			-	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3171C>T	3.37:g.130292993C>T			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.F1057	ENST00000358511.6	37	c.3171	CCDS46911.1	3																																																																																			-	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.448	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	0	0	0	37	37	124	0.00	0.00	C	NM_001102608		130292993	+1	18	61	23	86	tier1	no_errors	ENST00000358511	ensembl	human	known	74_37	silent	43.90	41.22	SNP	0.000	T	18	23
ANKRD18B	441459	genome.wustl.edu	37	9	33548696	33548696	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:33548696A>C	ENST00000290943.6	+	9	1820	c.1724A>C	c.(1723-1725)gAa>gCa	p.E575A		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	575										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						GCTCGTAAGGAAGGTGATAAT	0.368													ENSG00000230453																																					0																																										SO:0001583	missense	0			-			9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.1724A>C	9.37:g.33548696A>C	ENSP00000290943:p.Glu575Ala			Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E575A	ENST00000290943.6	37	c.1724		9	.	.	.	.	.	.	.	.	.	.	a	11.23	1.577941	0.28180	.	.	ENSG00000230453	ENST00000290943	T	0.14766	2.48	1.5	0.311	0.15831	.	.	.	.	.	T	0.15176	0.0366	.	.	.	0.22342	N	0.999188	.	.	.	.	.	.	T	0.24621	-1.0155	5	0.72032	D	0.01	.	4.7543	0.13075	0.8069:0.0:0.1931:0.0	.	.	.	.	A	575	ENSP00000290943:E575A	ENSP00000290943:E575A	E	+	2	0	ANKRD18B	33538696	1.000000	0.71417	0.003000	0.11579	0.011000	0.07611	3.733000	0.55029	0.066000	0.16515	0.254000	0.18369	GAA	-	ANKRD18B	-	NULL		0.368	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	0	0	0	124	124	127	0.00	0.00	A	XM_001718334		33548696	+1	49	59	49	63	tier1	no_errors	ENST00000290943	ensembl	human	known	74_37	missense	50.00	48.36	SNP	0.028	C	49	49
THSD7B	80731	genome.wustl.edu	37	2	138414698	138414698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:138414698G>A	ENST00000409968.1	+	24	4521	c.4343G>A	c.(4342-4344)tGg>tAg	p.W1448*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1420*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1451*|THSD7B_ENST00000543459.1_Missense_Mutation_p.G283S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1450						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGAACTGTATGGTGCCAGCGT	0.413													ENSG00000144229																																					0													113.0	112.0	113.0					2																	138414698		1952	4158	6110	SO:0001587	stop_gained	0			-			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4343G>A	2.37:g.138414698G>A	ENSP00000387145:p.Trp1448*			Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W1451*	ENST00000409968.1	37	c.4352		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.727409|11.727409	0.99596|0.99596	.|.	.|.	ENSG00000144229|ENSG00000144229	ENST00000543459|ENST00000409968;ENST00000272643;ENST00000413152	T|.	0.35236|.	1.32|.	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.50411|.	0.1614|.	.|.	.|.	.|.	0.42975|0.42975	D|D	0.994443|0.994443	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38156|.	-0.9674|.	6|.	0.30854|0.02654	T|T	0.27|1	.|.	20.8599|20.8599	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	283|1448;1451;1420	ENSP00000443370:G283S|.	ENSP00000443370:G283S|ENSP00000272643:W1451X	G|W	+|+	1|2	0|0	THSD7B|THSD7B	138131168|138131168	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	9.472000|9.472000	0.97709|0.97709	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|TGG	-	THSD7B	-	NULL		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	0	0	0	75	75	147	0.00	0.00	G	XM_046570.9		138414698	+1	10	12	45	100	tier1	no_errors	ENST00000272643	ensembl	human	known	74_37	nonsense	18.18	10.71	SNP	1.000	A	10	45
SLC7A2	6542	genome.wustl.edu	37	8	17409438	17409438	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:17409438G>A	ENST00000494857.1	+	7	1216	c.998G>A	c.(997-999)gGa>gAa	p.G333E	SLC7A2_ENST00000470360.1_Missense_Mutation_p.G373E|SLC7A2_ENST00000522656.1_Missense_Mutation_p.G333E|SLC7A2_ENST00000004531.10_Missense_Mutation_p.G373E|SLC7A2_ENST00000398090.3_Missense_Mutation_p.G373E	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	333					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATATGTGGGATGGGGTCCT	0.502													ENSG00000003989																																					0													124.0	122.0	123.0					8																	17409438		2203	4300	6503	SO:0001583	missense	0			-	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.998G>A	8.37:g.17409438G>A	ENSP00000419140:p.Gly333Glu		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.G373E	ENST00000494857.1	37	c.1118	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179143	0.78564	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.26	5.26	0.73747	Amino acid permease domain (1);	0.093176	0.85682	D	0.000000	D	0.97595	0.9212	H	0.96833	3.89	0.80722	D	1	D;D;D	0.63880	0.993;0.991;0.971	P;P;D	0.72338	0.833;0.684;0.977	D	0.98229	1.0482	10	0.56958	D	0.05	.	19.2416	0.93887	0.0:0.0:1.0:0.0	.	373;373;333	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	E	333;333;373;373;373	ENSP00000419140:G333E;ENSP00000430464:G333E;ENSP00000419873:G373E;ENSP00000004531:G373E;ENSP00000381164:G373E	ENSP00000004531:G373E	G	+	2	0	SLC7A2	17453816	1.000000	0.71417	0.989000	0.46669	0.274000	0.26718	8.004000	0.88535	2.621000	0.88768	0.655000	0.94253	GGA	-	SLC7A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease		0.502	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	0	0	0	80	80	113	0.00	0.00	G	NM_003046		17409438	+1	32	33	25	42	tier1	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	56.14	43.42	SNP	1.000	A	32	25
MYLK3	91807	genome.wustl.edu	37	16	46781685	46781685	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:46781685G>A	ENST00000394809.4	-	1	536	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	141					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCCTGCATGAGGAAATCCGCC	0.662													ENSG00000140795																																					0													60.0	60.0	60.0					16																	46781685		2203	4300	6503	SO:0001583	missense	0			-	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.421C>T	16.37:g.46781685G>A	ENSP00000378288:p.Leu141Phe		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L141F	ENST00000394809.4	37	c.421	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930873	0.18131	.	.	ENSG00000140795	ENST00000394809	T	0.70164	-0.46	4.87	-0.46	0.12175	.	0.218384	0.23201	N	0.050786	T	0.44393	0.1291	N	0.22421	0.69	0.80722	D	1	P	0.38922	0.651	B	0.32805	0.153	T	0.23976	-1.0173	10	0.72032	D	0.01	.	8.2112	0.31483	0.0:0.0716:0.4063:0.5221	.	141	Q32MK0	MYLK3_HUMAN	F	141	ENSP00000378288:L141F	ENSP00000378288:L141F	L	-	1	0	MYLK3	45339186	1.000000	0.71417	0.510000	0.27712	0.041000	0.13682	1.812000	0.38952	-0.307000	0.08804	-0.500000	0.04577	CTC	-	MYLK3	-	NULL		0.662	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	0	0	0	80	80	89	0.00	0.00	G	NM_182493		46781685	-1	29	11	58	42	tier1	no_errors	ENST00000394809	ensembl	human	known	74_37	missense	33.33	20.75	SNP	0.995	A	29	58
APCS	325	genome.wustl.edu	37	1	159558493	159558493	+	Missense_Mutation	SNP	G	G	T	rs201642560	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:159558493G>T	ENST00000255040.2	+	2	764	c.667G>T	c.(667-669)Gtc>Ttc	p.V223F		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	223	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CTTGGTGTGGGTCTGAGGTCT	0.463													ENSG00000132703																																					0													79.0	82.0	81.0					1																	159558493		2203	4300	6503	SO:0001583	missense	0			-		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.667G>T	1.37:g.159558493G>T	ENSP00000255040:p.Val223Phe			Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.V223F	ENST00000255040.2	37	c.667	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391062	0.25118	.	.	ENSG00000132703	ENST00000255040	T	0.10382	2.88	4.16	-4.21	0.03812	Concanavalin A-like lectin/glucanase (1);	1.689950	0.03030	N	0.151911	T	0.01320	0.0043	N	0.08118	0	0.09310	N	0.999998	B	0.23854	0.092	B	0.11329	0.006	T	0.42464	-0.9450	10	0.59425	D	0.04	1.5685	1.9612	0.03387	0.2123:0.4163:0.2143:0.1571	.	223	P02743	SAMP_HUMAN	F	223	ENSP00000255040:V223F	ENSP00000255040:V223F	V	+	1	0	APCS	157825117	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-4.457000	0.00231	-0.568000	0.06038	-0.172000	0.13284	GTC	-	APCS	-	superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.463	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	HGNC	protein_coding	OTTHUMT00000059024.2	0	0	0	63	63	88	0.00	0.00	G	NM_001639		159558493	+1	9	14	33	35	tier1	no_errors	ENST00000255040	ensembl	human	known	74_37	missense	21.43	28.57	SNP	0.010	T	9	33
OVCH2	341277	genome.wustl.edu	37	11	7723023	7723023	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:7723023C>T	ENST00000534193.2	-	0	586				OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AGGACGCCACCTGAAAAACAG	0.473													ENSG00000183378																																					0													25.0	25.0	25.0					11																	7723023		1927	4139	6066			0			-	BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7723023C>T				Splice_Site	SNP	-	e6-1	ENST00000534193.2	37	c.560-1		11	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670575	0.29693	.	.	ENSG00000183378	ENST00000454689	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9888	0.86348	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OVCH2	7679599	1.000000	0.71417	0.966000	0.40874	0.100000	0.18952	5.192000	0.65115	2.629000	0.89072	0.650000	0.86243	.	-	OVCH2	-	-		0.473	OVCH2-001	KNOWN	non_canonical_polymorphism|not_organism_supported|basic	polymorphic_pseudogene	OVCH2	HGNC	polymorphic_pseudogene	OTTHUMT00000383929.7	0	0	0	43	43	86	0.00	0.00	C	NM_198185		7723023	-1	9	9	23	61	tier1	no_errors	ENST00000454689	ensembl	human	known	74_37	splice_site	28.12	12.86	SNP	1.000	T	9	23
UBE3D	90025	genome.wustl.edu	37	6	83667038	83667038	+	Missense_Mutation	SNP	G	G	A	rs34566948	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:83667038G>A	ENST00000369747.3	-	9	1264	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	381	HECT-like.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CACCTGAAAGGAATTCACACG	0.473													ENSG00000118420																																					0													113.0	94.0	100.0					6																	83667038		2203	4300	6503	SO:0001583	missense	0			-	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.1142C>T	6.37:g.83667038G>A	ENSP00000358762:p.Ser381Phe		B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.S381F	ENST00000369747.3	37	c.1142	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821727	0.50633	.	.	ENSG00000118420	ENST00000369747	T	0.32515	1.45	5.57	5.57	0.84162	.	0.106577	0.64402	D	0.000003	T	0.48554	0.1506	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.49707	-0.8911	10	0.72032	D	0.01	-9.5469	16.4666	0.84080	0.0:0.0:1.0:0.0	.	381	Q7Z6J8	UB2CB_HUMAN	F	381	ENSP00000358762:S381F	ENSP00000358762:S381F	S	-	2	0	UBE2CBP	83723757	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	5.397000	0.66302	2.628000	0.89032	0.462000	0.41574	TCC	-	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot		0.473	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	0	0	0	56	56	146	0.00	0.00	G	NM_198920		83667038	-1	15	32	40	68	tier1	no_errors	ENST00000369747	ensembl	human	known	74_37	missense	26.79	32.00	SNP	1.000	A	15	40
ADCY8	114	genome.wustl.edu	37	8	131955685	131955685	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:131955685C>T	ENST00000286355.5	-	4	3357	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G422E|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	422					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTTGGTAAATCCTTTAACATC	0.458										HNSCC(32;0.087)			ENSG00000155897																																					0													51.0	48.0	49.0					8																	131955685		2203	4300	6503	SO:0001583	missense	0			-	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1265G>A	8.37:g.131955685C>T	ENSP00000286355:p.Gly422Glu			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G422E	ENST00000286355.5	37	c.1265	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.456275	0.96223	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.88046	-2.33;-2.33;-2.33	5.65	5.65	0.86999	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95818	0.8639	H	0.95043	3.615	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96525	0.9388	10	0.87932	D	0	.	19.0765	0.93165	0.0:1.0:0.0:0.0	.	422;422	E7EVL1;P40145	.;ADCY8_HUMAN	E	422;422;37	ENSP00000286355:G422E;ENSP00000367161:G422E;ENSP00000428010:G37E	ENSP00000286355:G422E	G	-	2	0	ADCY8	132024867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.825000	0.97269	0.655000	0.94253	GGA	-	ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	0	0	0	33	33	64	0.00	0.00	C			131955685	-1	11	13	29	29	tier1	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	27.50	30.23	SNP	1.000	T	11	29
ACKR2	1238	genome.wustl.edu	37	3	42906961	42906961	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:42906961C>T	ENST00000422265.1	+	3	1142	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L	ACKR2_ENST00000273145.2_Silent_p.L323L|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.L323L|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	323					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CCGCCAGTACCTGAAGGCTTT	0.567													ENSG00000144648																																					0													130.0	105.0	114.0					3																	42906961		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.967C>T	3.37:g.42906961C>T			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.L323	ENST00000422265.1	37	c.967	CCDS2706.1	3																																																																																			-	ACKR2	-	prints_Chemokine_rcpt		0.567	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACKR2	HGNC	protein_coding	OTTHUMT00000256645.2	0	0	0	32	32	96	0.00	0.00	C	NM_001296		42906961	+1	12	40	14	66	tier1	no_errors	ENST00000273145	ensembl	human	known	74_37	silent	46.15	37.74	SNP	0.996	T	12	14
COL18A1	80781	genome.wustl.edu	37	21	46876415	46876415	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:46876415G>A	ENST00000359759.4	+	1	992	c.971G>A	c.(970-972)gGg>gAg	p.G324E	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	324					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCCTGCTCGGGGCTGACCCC	0.672													ENSG00000182871																																					0													37.0	41.0	40.0					21																	46876415		692	1591	2283	SO:0001583	missense	0			-		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.971G>A	21.37:g.46876415G>A	ENSP00000352798:p.Gly324Glu		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G324E	ENST00000359759.4	37	c.971		21	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877384	0.33162	.	.	ENSG00000182871	ENST00000359759;ENST00000539645	D	0.89875	-2.58	4.65	3.73	0.42828	.	1.640020	0.04396	N	0.363248	D	0.83133	0.5188	.	.	.	0.09310	N	1	B	0.34015	0.435	B	0.28305	0.088	T	0.71159	-0.4674	9	0.39692	T	0.17	.	9.5833	0.39501	0.0:0.1863:0.6775:0.1362	.	324	P39060	COIA1_HUMAN	E	324	ENSP00000352798:G324E	ENSP00000352798:G324E	G	+	2	0	COL18A1	45700843	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	0.212000	0.17497	1.074000	0.40909	0.591000	0.81541	GGG	-	COL18A1	-	NULL		0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	0	0	0	37	37	38	0.00	0.00	G			46876415	+1	9	5	25	27	tier1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	26.47	15.62	SNP	0.001	A	9	25
OR51A7	119687	genome.wustl.edu	37	11	4929472	4929472	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:4929472C>T	ENST00000359350.4	+	1	873	c.873C>T	c.(871-873)taC>taT	p.Y291Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATTGTGTACTGTGTAAAGA	0.418													ENSG00000176895																																					0													135.0	127.0	130.0					11																	4929472		2201	4298	6499	SO:0001819	synonymous_variant	0			-	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.873C>T	11.37:g.4929472C>T			Q6IFH8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Y291	ENST00000359350.4	37	c.873	CCDS31364.1	11																																																																																			-	OR51A7	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	0	0	0	86	86	138	0.00	0.00	C	NM_001004749		4929472	+1	9	16	55	100	tier1	no_errors	ENST00000359350	ensembl	human	known	74_37	silent	13.85	13.79	SNP	0.982	T	9	55
SCN1A	6323	genome.wustl.edu	37	2	166850927	166850927	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:166850927C>T	ENST00000303395.4	-	25	4581		c.e25-1		AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Splice_Site			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAATTTGTTCTGTAGAGAAA	0.343													ENSG00000144285																																					0													75.0	71.0	72.0					2																	166850927		2202	4300	6502	SO:0001630	splice_region_variant	0			-	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4582-1G>A	2.37:g.166850927C>T			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	-	e25-1	ENST00000303395.4	37	c.4582-1	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674172	0.88445	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9788	0.97318	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166559173	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.688000	0.84153	2.719000	0.93026	0.555000	0.69702	.	-	SCN1A	-	-		0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	0	0	0	35	35	125	0.00	0.00	C	NM_006920	Intron	166850927	-1	14	28	10	42	tier1	no_errors	ENST00000303395	ensembl	human	known	74_37	splice_site	58.33	40.00	SNP	1.000	T	14	10
OR52E2	119678	genome.wustl.edu	37	11	5080598	5080598	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:5080598A>G	ENST00000321522.2	-	1	259	c.260T>C	c.(259-261)tTc>tCc	p.F87S		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTGATCCAGAAGATTCCAAG	0.498													ENSG00000176787																																					0													90.0	82.0	85.0					11																	5080598		2201	4298	6499	SO:0001583	missense	0			-	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.260T>C	11.37:g.5080598A>G	ENSP00000322088:p.Phe87Ser			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F87S	ENST00000321522.2	37	c.260	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767767	0.49574	.	.	ENSG00000176787	ENST00000321522	T	0.00327	8.09	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00754	0.0025	M	0.79693	2.465	0.41275	D	0.986872	D	0.89917	1.0	D	0.73380	0.98	T	0.71889	-0.4456	10	0.87932	D	0	.	12.3546	0.55167	1.0:0.0:0.0:0.0	.	87	Q8NGJ4	O52E2_HUMAN	S	87	ENSP00000322088:F87S	ENSP00000322088:F87S	F	-	2	0	OR52E2	5037174	0.010000	0.17322	0.999000	0.59377	0.193000	0.23685	1.538000	0.36094	1.966000	0.57179	0.529000	0.55759	TTC	-	OR52E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	0	0	0	54	54	92	0.00	0.00	A	NM_001005164		5080598	-1	22	28	25	32	tier1	no_errors	ENST00000321522	ensembl	human	known	74_37	missense	46.81	46.67	SNP	1.000	G	22	25
MUT	4594	genome.wustl.edu	37	6	49416591	49416591	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:49416591T>C	ENST00000274813.3	-	7	1509	c.1382A>G	c.(1381-1383)gAg>gGg	p.E461G		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	461					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTATTCCCTCAGCTACAGC	0.338													ENSG00000146085																																					0													145.0	144.0	144.0					6																	49416591		2203	4300	6503	SO:0001583	missense	0			-		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1382A>G	6.37:g.49416591T>C	ENSP00000274813:p.Glu461Gly		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.E461G	ENST00000274813.3	37	c.1382	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896954	0.72639	.	.	ENSG00000146085	ENST00000274813	D	0.98362	-4.89	5.75	5.75	0.90469	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.82823	2.61	0.80722	D	1	P	0.37824	0.609	P	0.44647	0.456	D	0.99078	1.0836	10	0.66056	D	0.02	3.8903	15.2313	0.73390	0.0:0.0:0.0:1.0	.	461	P22033	MUTA_HUMAN	G	461	ENSP00000274813:E461G	ENSP00000274813:E461G	E	-	2	0	MUT	49524550	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.698000	0.84413	2.192000	0.70111	0.528000	0.53228	GAG	-	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat		0.338	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	0	0	0	133	133	113	0.00	0.00	T			49416591	-1	47	48	63	73	tier1	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	42.73	39.34	SNP	1.000	C	47	63
LIN7A	8825	genome.wustl.edu	37	12	81283053	81283053	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:81283053C>G	ENST00000552864.1	-	2	380	c.178G>C	c.(178-180)Gag>Cag	p.E60Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	60	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTACAAAACTCACTCTGAAGC	0.363													ENSG00000111052																																					0													121.0	108.0	112.0					12																	81283053		2203	4299	6502	SO:0001583	missense	0			-	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.178G>C	12.37:g.81283053C>G	ENSP00000447488:p.Glu60Gln		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.E60Q	ENST00000552864.1	37	c.178	CCDS9021.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743654	0.89663	.	.	ENSG00000111052	ENST00000552864;ENST00000549417	T;T	0.27402	2.2;1.67	5.5	5.5	0.81552	L27, C-terminal (1);L27 (2);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	L	0.43923	1.385	0.80722	D	1	P	0.45768	0.866	P	0.48873	0.593	T	0.18587	-1.0332	10	0.66056	D	0.02	-17.5453	19.3856	0.94555	0.0:1.0:0.0:0.0	.	60	O14910	LIN7A_HUMAN	Q	60;54	ENSP00000447488:E60Q;ENSP00000448975:E54Q	ENSP00000261203:E60Q	E	-	1	0	LIN7A	79807184	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.729000	0.84864	2.582000	0.87167	0.460000	0.39030	GAG	-	LIN7A	-	pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27		0.363	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1	0	0	0	109	109	155	0.00	0.00	C			81283053	-1	29	31	61	76	tier1	no_errors	ENST00000552864	ensembl	human	known	74_37	missense	32.22	28.70	SNP	1.000	G	29	61
MBTPS1	8720	genome.wustl.edu	37	16	84093019	84093019	+	Missense_Mutation	SNP	G	G	A	rs147197996	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:84093019G>A	ENST00000343411.3	-	21	3214	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	907					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGGAGTACCGATGAAGATGG	0.468													ENSG00000140943																																					0								G	TRP/ARG	4,4396	8.1+/-20.4	0,4,2196	53.0	51.0	51.0		2719	5.4	1.0	16	dbSNP_134	51	0,8600		0,0,4300	yes	missense	MBTPS1	NM_003791.2	101	0,4,6496	AA,AG,GG		0.0,0.0909,0.0308	probably-damaging	907/1053	84093019	4,12996	2200	4300	6500	SO:0001583	missense	0			-	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2719C>T	16.37:g.84093019G>A	ENSP00000344223:p.Arg907Trp		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.R907W	ENST00000343411.3	37	c.2719	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.488622	0.96323	9.09E-4	0.0	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.26067	1.76	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	P	0.60415	0.874	T	0.48399	-0.9039	10	0.66056	D	0.02	-27.2091	19.1452	0.93463	0.0:0.0:1.0:0.0	.	907	Q14703	MBTP1_HUMAN	W	907;352	ENSP00000344223:R907W	ENSP00000344223:R907W	R	-	1	2	MBTPS1	82650520	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	8.004000	0.88535	2.517000	0.84864	0.561000	0.74099	CGG	rs147197996	MBTPS1	-	NULL		0.468	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	0	0	0	75	75	109	0.00	0.00	G	NM_003791		84093019	-1	20	57	62	83	tier1	no_errors	ENST00000343411	ensembl	human	known	74_37	missense	24.39	40.71	SNP	1.000	A	20	62
TPO	7173	genome.wustl.edu	37	2	1488383	1488383	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:1488383G>A	ENST00000345913.4	+	9	1445	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TPO_ENST00000349624.3_Missense_Mutation_p.D279N|TPO_ENST00000346956.3_Missense_Mutation_p.D452N|TPO_ENST00000329066.4_Missense_Mutation_p.D452N|TPO_ENST00000382201.3_Missense_Mutation_p.D452N|TPO_ENST00000382198.1_Missense_Mutation_p.D279N|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.D452N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	452					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACCCTGAGGGATTACATCCC	0.577													ENSG00000115705																																					0													58.0	54.0	55.0					2																	1488383		2203	4300	6503	SO:0001583	missense	0			-		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1354G>A	2.37:g.1488383G>A	ENSP00000318820:p.Asp452Asn		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.D452N	ENST00000345913.4	37	c.1354	CCDS1643.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052746|3.052746	0.55218|0.55218	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464|ENST00000536482	T;T;T;T;T;T;T;T|.	0.73897|.	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81795|0.81795	0.4898|0.4898	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.983;0.996;0.988;0.99|.	T|T	0.81404|0.81404	-0.0948|-0.0948	10|6	0.72032|0.33141	D|T	0.01|0.24	-18.7255|-18.7255	18.6504|18.6504	0.91429|0.91429	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	452;279;452;452|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	N|E	452;452;452;279;452;452;279;381|135	ENSP00000337263:D452N;ENSP00000318820:D452N;ENSP00000263886:D452N;ENSP00000332044:D279N;ENSP00000329869:D452N;ENSP00000371636:D452N;ENSP00000371633:D279N;ENSP00000405788:D381N|.	ENSP00000329869:D452N|ENSP00000439133:G135E	D|G	+|+	1|2	0|0	TPO|TPO	1467390|1467390	1.000000|1.000000	0.71417|0.71417	0.281000|0.281000	0.24762|0.24762	0.025000|0.025000	0.11179|0.11179	6.187000|6.187000	0.72039|0.72039	2.402000|2.402000	0.81655|0.81655	0.561000|0.561000	0.74099|0.74099	GAT|GGA	-	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	0	0	0	36	36	83	0.00	0.00	G	NM_000547		1488383	+1	23	33	18	19	tier1	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	56.10	63.46	SNP	1.000	A	23	18
GRIN2A	2903	genome.wustl.edu	37	16	9916278	9916278	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:9916278G>T	ENST00000396573.2	-	11	2320	c.2011C>A	c.(2011-2013)Cag>Aag	p.Q671K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q671K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q671K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q671K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q671K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q514K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	671					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAGGTCTCTGAAACTGgaga	0.428													ENSG00000183454																																					0													73.0	64.0	67.0					16																	9916278		2197	4300	6497	SO:0001583	missense	0			-		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2011C>A	16.37:g.9916278G>T	ENSP00000379818:p.Gln671Lys		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q671K	ENST00000396573.2	37	c.2011	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.165918	0.94768	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	5.65	5.65	0.86999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.86420	2.815	0.80722	D	1	P;P;D	0.56746	0.602;0.654;0.977	P;P;D	0.72075	0.619;0.806;0.976	T	0.79172	-0.1913	9	.	.	.	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	514;671;671	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	671;671;514;671;671	ENSP00000379818:Q671K;ENSP00000385872:Q671K;ENSP00000441572:Q514K;ENSP00000332549:Q671K;ENSP00000379820:Q671K	.	Q	-	1	0	GRIN2A	9823779	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.695000	0.98691	2.655000	0.90218	0.655000	0.94253	CAG	-	GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.428	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	0	0	0	74	74	53	0.00	0.00	G			9916278	-1	24	24	57	30	tier1	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	29.27	44.44	SNP	1.000	T	24	57
MYO5C	55930	genome.wustl.edu	37	15	52567795	52567795	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:52567795C>T	ENST00000261839.7	-	5	731	c.570G>A	c.(568-570)gtG>gtA	p.V190V	MYO5C_ENST00000443683.2_Silent_p.V133V|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000541028.1_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	190	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTGTCTTCCACGTGAGCGT	0.552													ENSG00000128833																																					0													123.0	122.0	122.0					15																	52567795		2133	4236	6369	SO:0001819	synonymous_variant	0			-	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.570G>A	15.37:g.52567795C>T			Q6P1W8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V190	ENST00000261839.7	37	c.570	CCDS42036.1	15																																																																																			-	MYO5C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.552	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	0	0	0	67	67	87	0.00	0.00	C	NM_018728		52567795	-1	24	11	25	25	tier1	no_errors	ENST00000261839	ensembl	human	known	74_37	silent	48.98	30.56	SNP	1.000	T	24	25
ARL2	402	genome.wustl.edu	37	11	64785863	64785863	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64785863C>T	ENST00000246747.4	+	2	188	c.93C>T	c.(91-93)acC>acT	p.T31T	RP11-399J13.3_ENST00000301886.3_Silent_p.T31T|ARL2_ENST00000533729.1_Silent_p.T31T|ARL2_ENST00000529384.1_Silent_p.T31T	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	31					cell cycle (GO:0007049)|centrosome organization (GO:0051297)|GTP catabolic process (GO:0006184)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of GTPase activity (GO:0034260)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of microtubule polymerization (GO:0031116)|regulation of microtubule polymerization (GO:0031113)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|tubulin complex assembly (GO:0007021)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|GTPase inhibitor activity (GO:0005095)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GAAAGACAACCATCCTGAAGA	0.577													ENSG00000213465																																					0													81.0	67.0	72.0					11																	64785863		2201	4297	6498	SO:0001819	synonymous_variant	0			-	AF493888	CCDS8088.1, CCDS55770.1	11q13	2014-05-09			ENSG00000213465	ENSG00000213465		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	693	protein-coding gene	gene with protein product		601175				8415637, 9253601	Standard	NM_001667		Approved	ARFL2	uc001och.4	P36404	OTTHUMG00000165728	ENST00000246747.4:c.93C>T	11.37:g.64785863C>T			G3V184|Q9BUK8	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T31	ENST00000246747.4	37	c.93	CCDS8088.1	11																																																																																			-	ARL2	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.577	ARL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL2	HGNC	protein_coding	OTTHUMT00000385963.1	0	0	0	57	57	148	0.00	0.00	C	NM_001667		64785863	+1	24	55	53	101	tier1	no_errors	ENST00000246747	ensembl	human	known	74_37	silent	31.17	35.03	SNP	0.999	T	24	53
PCDH15	65217	genome.wustl.edu	37	10	55582496	55582496	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:55582496A>T	ENST00000320301.6	-	33	5384	c.4990T>A	c.(4990-4992)Ttt>Att	p.F1664I	PCDH15_ENST00000395433.1_Missense_Mutation_p.F1641I|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.F1595I|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.F1624I|PCDH15_ENST00000395430.1_Missense_Mutation_p.F1661I|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.F1666I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1664					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCCTGGGAAAGCAAAATGAA	0.418										HNSCC(58;0.16)			ENSG00000150275																																					0													151.0	150.0	151.0					10																	55582496		2203	4300	6503	SO:0001583	missense	0			-	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4990T>A	10.37:g.55582496A>T	ENSP00000322604:p.Phe1664Ile		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F1664I	ENST00000320301.6	37	c.4990	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100659	0.37048	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.55413	0.55;0.52;0.57;0.54;0.53;0.54	4.95	3.78	0.43462	.	.	.	.	.	T	0.35682	0.0940	N	0.14661	0.345	0.23727	N	0.997003	B;B;B;B;B;B;B;B	0.29862	0.136;0.084;0.084;0.158;0.259;0.084;0.158;0.084	B;B;B;B;B;B;B;B	0.27887	0.084;0.084;0.084;0.084;0.084;0.084;0.065;0.084	T	0.20874	-1.0262	9	0.49607	T	0.09	.	11.3926	0.49824	0.8479:0.1521:0.0:0.0	.	1641;1664;1666;1671;1595;1624;1661;1664	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	I	1624;1666;1641;1664;1661;1671;1595	ENSP00000378820:F1624I;ENSP00000354950:F1666I;ENSP00000378821:F1641I;ENSP00000322604:F1664I;ENSP00000378818:F1661I;ENSP00000412628:F1595I	ENSP00000322604:F1664I	F	-	1	0	PCDH15	55252502	0.992000	0.36948	0.977000	0.42913	0.627000	0.37826	2.541000	0.45735	0.707000	0.31934	0.533000	0.62120	TTT	-	PCDH15	-	NULL		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	0	0	1	95	95	145	0.00	0.68	A	NM_033056		55582496	-1	40	81	22	42	tier1	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	64.52	65.85	SNP	0.858	T	40	22
VPS13D	55187	genome.wustl.edu	37	1	12439591	12439591	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:12439591C>G	ENST00000358136.3	+	57	11261	c.11131C>G	c.(11131-11133)Cag>Gag	p.Q3711E	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3686E|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAGCACAACTCAGACGTGGAG	0.502													ENSG00000048707																																					0													141.0	126.0	131.0					1																	12439591		2203	4300	6503	SO:0001583	missense	0			-	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11131C>G	1.37:g.12439591C>G	ENSP00000350854:p.Gln3711Glu			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q3711E	ENST00000358136.3	37	c.11131	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.105136	0.94245	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.62232	0.04;0.06	5.19	5.19	0.71726	.	0.243035	0.43110	D	0.000602	T	0.73721	0.3623	M	0.79011	2.435	0.80722	D	1	P;P	0.45634	0.856;0.863	P;B	0.50109	0.631;0.428	T	0.76471	-0.2947	10	0.52906	T	0.07	.	18.6945	0.91596	0.0:1.0:0.0:0.0	.	3686;3710	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	E	3686;3711	ENSP00000348666:Q3686E;ENSP00000350854:Q3711E	ENSP00000348666:Q3686E	Q	+	1	0	VPS13D	12362178	1.000000	0.71417	0.961000	0.40146	0.991000	0.79684	7.386000	0.79775	2.573000	0.86826	0.650000	0.86243	CAG	-	VPS13D	-	NULL		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	0	0	0	52	52	115	0.00	0.00	C	NM_015378		12439591	+1	13	16	40	83	tier1	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	24.07	16.16	SNP	1.000	G	13	40
BAI3	577	genome.wustl.edu	37	6	70098718	70098718	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:70098718G>A	ENST00000370598.1	+	32	5325	c.4504G>A	c.(4504-4506)Gag>Aag	p.E1502K	BAI3_ENST00000546190.1_Missense_Mutation_p.E466K|BAI3_ENST00000238918.8_Missense_Mutation_p.E708K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1502					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGGCCAGCAGAGTGGGAGAA	0.428													ENSG00000135298																																					0													103.0	89.0	94.0					6																	70098718		2203	4300	6503	SO:0001583	missense	0			-	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4504G>A	6.37:g.70098718G>A	ENSP00000359630:p.Glu1502Lys		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E1502K	ENST00000370598.1	37	c.4504	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750793	0.89753	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.55760	1.59;2.19;0.5	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	M	0.69358	2.11	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.67473	-0.5662	10	0.72032	D	0.01	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	708;1502	B7Z356;O60242	.;BAI3_HUMAN	K	1502;708;466	ENSP00000359630:E1502K;ENSP00000238918:E708K;ENSP00000441821:E466K	ENSP00000238918:E708K	E	+	1	0	BAI3	70155439	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	9.230000	0.95299	2.832000	0.97577	0.655000	0.94253	GAG	-	BAI3	-	NULL		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	0	0	0	69	69	82	0.00	0.00	G			70098718	+1	20	31	35	55	tier1	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	36.36	36.05	SNP	1.000	A	20	35
IGHV1OR21-1	390530	genome.wustl.edu	37	21	10862806	10862806	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:10862806G>A	ENST00000559480.1	+	0	102							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						AGAAGCCTGGGGCCTCAGTGA	0.567													ENSG00000169861																																					0													188.0	181.0	183.0					21																	10862806		1973	4164	6137			0			-			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862806G>A				Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G34	ENST00000559480.1	37	c.102		21																																																																																			-	IGHV1OR21-1	-	pfam_Ig_V-set,pfscan_Ig-like_dom		0.567	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IGHV1OR21-1	HGNC	IG_V_gene		0	0	0	206	206	30	0.00	0.00	G	NG_011680		10862806	+1	59	8	218	24	tier1	no_errors	ENST00000559480	ensembl	human	known	74_37	silent	21.30	25.00	SNP	0.956	A	59	218
ARID2	196528	genome.wustl.edu	37	12	46300103	46300103	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:46300103C>T	ENST00000334344.6	+	0	6922				ARID2_ENST00000444670.1_3'UTR|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGCTCACTTCCTTAAATTGT	0.363			"""N, S, F"""		hepatocellular carcinoma								ENSG00000189079																												Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.*1242C>T	12.37:g.46300103C>T			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	R	SNP	-	NULL	ENST00000334344.6	37	NULL	CCDS31783.1	12																																																																																			-	ARID2	-	-		0.363	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	0	0	0	111	111	147	0.00	0.00	C	XM_350875		46300103	+1	26	28	71	81	tier1	no_errors	ENST00000479608	ensembl	human	known	74_37	rna	26.80	25.69	SNP	1.000	T	26	71
CFAP54	144535	genome.wustl.edu	37	12	96948514	96948514	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:96948514G>A	ENST00000524981.4	+	17	2367	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	C12orf55_ENST00000298953.3_Missense_Mutation_p.D782N|C12orf55_ENST00000554108.2_3'UTR			Q96N23	CL055_HUMAN		782																	TTTCATGATGGATTTGCATCT	0.368													ENSG00000188596																																					0																																										SO:0001583	missense	0			-																												ENST00000524981.4:c.2344G>A	12.37:g.96948514G>A	ENSP00000431759:p.Asp782Asn			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.D782N	ENST00000524981.4	37	c.2344		12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511812	0.85389	.	.	ENSG00000188596	ENST00000524981;ENST00000298953	T	0.47869	0.83	5.72	5.72	0.89469	.	.	.	.	.	T	0.67411	0.2890	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68603	-0.5365	6	0.59425	D	0.04	.	18.6371	0.91383	0.0:0.0:1.0:0.0	.	.	.	.	N	782	ENSP00000298953:D782N	ENSP00000298953:D782N	D	+	1	0	C12orf63	95472645	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	5.825000	0.69286	2.703000	0.92315	0.591000	0.81541	GAT	-	C12orf55	-	NULL		0.368	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	0	0	0	54	54	119	0.00	0.00	G			96948514	+1	14	27	19	59	tier1	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	42.42	31.40	SNP	1.000	A	14	19
MYO7A	4647	genome.wustl.edu	37	11	76893564	76893564	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:76893564C>T	ENST00000409709.3	+	25	3476	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYO7A_ENST00000409893.1_Silent_p.I1068I|MYO7A_ENST00000458637.2_Silent_p.I1068I|MYO7A_ENST00000409619.2_Silent_p.I1057I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1068	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTGAGAAGATCCCTGTGATGA	0.612													ENSG00000137474																																					0													75.0	80.0	78.0					11																	76893564		2078	4199	6277	SO:0001819	synonymous_variant	0			-	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3204C>T	11.37:g.76893564C>T			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.I1068	ENST00000409709.3	37	c.3204	CCDS53683.1	11																																																																																			-	MYO7A	-	smart_MyTH4_dom,pfscan_MyTH4_dom		0.612	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	0	0	0	45	45	116	0.00	0.00	C	NM_000260		76893564	+1	8	43	40	47	tier1	no_errors	ENST00000409709	ensembl	human	known	74_37	silent	16.67	47.78	SNP	0.998	T	8	40
SV2B	9899	genome.wustl.edu	37	15	91769557	91769557	+	Missense_Mutation	SNP	G	G	A	rs150480705		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:91769557G>A	ENST00000394232.1	+	2	534	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.G22S|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	22					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTATTACCGCGGCAATGAGTC	0.522													ENSG00000185518	G|||	1	0.000199681	0.0	0.0	5008	,	,		22380	0.001		0.0	False		,,,				2504	0.0																0								G	,SER/GLY	0,4396		0,0,2198	113.0	93.0	99.0		,64	4.8	0.9	15	dbSNP_134	99	1,8595	1.2+/-3.3	0,1,4297	no	intron,missense	SV2B	NM_001167580.1,NM_014848.4	,56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	,benign	,22/684	91769557	1,12991	2198	4298	6496	SO:0001583	missense	0			GMAF=0.0005	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.64G>A	15.37:g.91769557G>A	ENSP00000377779:p.Gly22Ser		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.G22S	ENST00000394232.1	37	c.64	CCDS10370.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.01	3.001076	0.54254	0.0	1.16E-4	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.30714	1.52;1.52	5.71	4.78	0.61160	.	0.199593	0.44285	N	0.000461	T	0.28101	0.0693	L	0.46157	1.445	0.36317	D	0.858025	B	0.29766	0.256	B	0.26693	0.072	T	0.24905	-1.0147	10	0.41790	T	0.15	-17.2368	13.8783	0.63667	0.0752:0.0:0.9248:0.0	.	22	Q7L1I2	SV2B_HUMAN	S	22	ENSP00000377779:G22S;ENSP00000332818:G22S	ENSP00000332818:G22S	G	+	1	0	SV2B	89570561	1.000000	0.71417	0.911000	0.35937	0.851000	0.48451	4.179000	0.58290	1.391000	0.46566	0.563000	0.77884	GGC	rs150480705	SV2B	-	tigrfam_SV2		0.522	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3	0	0	0	69	69	95	0.00	0.00	G	NM_014848		91769557	+1	6	20	38	35	tier1	no_errors	ENST00000330276	ensembl	human	known	74_37	missense	13.64	36.36	SNP	0.993	A	6	38
MGAM	8972	genome.wustl.edu	37	7	141784363	141784363	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141784363C>T	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Silent_p.F2142F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTGGGGTTCCAGCTGTGTC	0.473													ENSG00000257335																																					0																																										SO:0001627	intron_variant	0			-	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-10057C>T	7.37:g.141784363C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.F2142	ENST00000549489.2	37	c.6426	CCDS47727.1	7																																																																																			-	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.473	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	0	0	0	150	150	146	0.00	0.00	C			141784363	+1	25	29	85	52	tier1	no_errors	ENST00000475668	ensembl	human	putative	74_37	silent	22.73	35.80	SNP	1.000	T	25	85
CSMD2	114784	genome.wustl.edu	37	1	34276407	34276407	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34276407G>A	ENST00000338325.1	-	3	466	c.54C>T	c.(52-54)ttC>ttT	p.F18F	CSMD2_ENST00000373381.4_Silent_p.F461F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	421						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGAATGGGGAAATTGGGGG	0.547													ENSG00000121904																																					0													123.0	121.0	122.0					1																	34276407		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.54C>T	1.37:g.34276407G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F461	ENST00000338325.1	37	c.1383		1																																																																																			-	CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.547	CSMD2-004	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000036404.2	0	0	0	74	74	54	0.00	0.00	G	NM_052896		34276407	-1	19	8	63	34	tier1	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	23.17	19.05	SNP	1.000	A	19	63
FLG2	388698	genome.wustl.edu	37	1	152324936	152324936	+	Missense_Mutation	SNP	C	C	T	rs555660257		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:152324936C>T	ENST00000388718.5	-	3	5398	c.5326G>A	c.(5326-5328)Gat>Aat	p.D1776N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1776					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D1776N(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTGGTATCGCCTGTCTGT	0.507													ENSG00000143520	C|||	1	0.000199681	0.0	0.0014	5008	,	,		28455	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	lung(1)|skin(1)											345.0	286.0	306.0					1																	152324936		2203	4300	6503	SO:0001583	missense	0			-	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5326G>A	1.37:g.152324936C>T	ENSP00000373370:p.Asp1776Asn		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.D1776N	ENST00000388718.5	37	c.5326	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192716	0.38707	.	.	ENSG00000143520	ENST00000388718	T	0.09817	2.94	3.96	3.96	0.45880	.	.	.	.	.	T	0.15609	0.0376	M	0.72353	2.195	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.10989	-1.0606	9	0.15952	T	0.53	-6.2375	11.7404	0.51790	0.0:1.0:0.0:0.0	.	1776	Q5D862	FILA2_HUMAN	N	1776	ENSP00000373370:D1776N	ENSP00000373370:D1776N	D	-	1	0	FLG2	150591560	0.035000	0.19736	0.025000	0.17156	0.018000	0.09664	1.236000	0.32683	2.229000	0.72834	0.196000	0.17591	GAT	-	FLG2	-	NULL		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	0	0	0	68	68	26	0.00	0.00	C	NM_001014342		152324936	-1	18	10	34	16	tier1	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	33.96	38.46	SNP	0.152	T	18	34
AL359878.1	0	genome.wustl.edu	37	10	1018464	1018464	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:1018464G>A	ENST00000381466.1	-	2	507	c.408C>T	c.(406-408)ccC>ccT	p.P136P																								GGTTCCAAAGGGGTTCATGTC	0.458													ENSG00000205740																																					0																																										SO:0001819	synonymous_variant	0			-																												ENST00000381466.1:c.408C>T	10.37:g.1018464G>A				Silent	SNP	NULL	p.P136	ENST00000381466.1	37	c.408		10																																																																																			-	AL359878.1	-	NULL		0.458	AL359878.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000205740	Clone_based_ensembl_gene	protein_coding		0	0	0	58	58	126	0.00	0.00	G			1018464	-1	32	47	28	81	tier1	no_errors	ENST00000381466	ensembl	human	known	74_37	silent	53.33	36.72	SNP	0.000	A	32	28
PLXNA2	5362	genome.wustl.edu	37	1	208215704	208215704	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:208215704C>T	ENST00000367033.3	-	22	4782	c.4025G>A	c.(4024-4026)gGa>gAa	p.G1342E		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1342					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCCCGTTTCCTTGTACCTG	0.622													ENSG00000076356																																					0													107.0	109.0	109.0					1																	208215704		2203	4300	6503	SO:0001583	missense	0			-	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4025G>A	1.37:g.208215704C>T	ENSP00000356000:p.Gly1342Glu		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1342E	ENST00000367033.3	37	c.4025	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.061227	0.93846	.	.	ENSG00000076356	ENST00000367033	T	0.09630	2.96	5.28	5.28	0.74379	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	N	0.21097	0.63	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.10132	-1.0643	10	0.20519	T	0.43	.	18.9383	0.92595	0.0:1.0:0.0:0.0	.	1342	O75051	PLXA2_HUMAN	E	1342	ENSP00000356000:G1342E	ENSP00000356000:G1342E	G	-	2	0	PLXNA2	206282327	1.000000	0.71417	0.942000	0.38095	0.890000	0.51754	7.480000	0.81109	2.460000	0.83146	0.557000	0.71058	GGA	-	PLX2	-	pfam_Plexin_cytoplasmic_RasGAP_dom		0.622	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLX2	HGNC	protein_coding	OTTHUMT00000088932.6	0	0	0	39	39	102	0.00	0.00	C	NM_025179		208215704	-1	14	25	20	38	tier1	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	41.18	39.68	SNP	1.000	T	14	20
ADAD1	132612	genome.wustl.edu	37	4	123305104	123305104	+	Missense_Mutation	SNP	G	G	A	rs78087673	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:123305104G>A	ENST00000296513.2	+	5	697	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	ADAD1_ENST00000388725.2_Missense_Mutation_p.R153Q|ADAD1_ENST00000388724.2_Missense_Mutation_p.R171Q|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	171					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGAACCACGAATTTTAGAA	0.338													ENSG00000164113	G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16892	0.0		0.0	False		,,,				2504	0.0																0													68.0	67.0	67.0					4																	123305104		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.512G>A	4.37:g.123305104G>A	ENSP00000296513:p.Arg171Gln		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin	p.R171Q	ENST00000296513.2	37	c.512	CCDS34058.1	4	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.715	0.133027	0.09032	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.30182	1.54;1.54;1.54	5.84	2.2	0.27929	.	0.673744	0.15494	N	0.259369	T	0.15955	0.0384	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.001;0.002	T	0.20706	-1.0267	9	.	.	.	-3.2746	1.5828	0.02638	0.2185:0.1509:0.475:0.1557	.	171;171	Q96M93-2;Q96M93	.;ADAD1_HUMAN	Q	171;171;171;153	ENSP00000296513:R171Q;ENSP00000373376:R171Q;ENSP00000373377:R153Q	.	R	+	2	0	ADAD1	123524554	0.010000	0.17322	0.161000	0.22692	0.358000	0.29455	0.460000	0.21924	0.381000	0.24851	-0.233000	0.12211	CGA	rs78087673	ADAD1	-	NULL		0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	0	0	0	80	80	107	0.00	0.00	G	NM_139243		123305104	+1	40	48	24	28	tier1	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	62.50	63.16	SNP	0.115	A	40	24
DSG4	147409	genome.wustl.edu	37	18	28979506	28979506	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:28979506G>A	ENST00000308128.4	+	9	1412	c.1277G>A	c.(1276-1278)aGa>aAa	p.R426K	DSG4_ENST00000359747.4_Splice_Site_p.R426K|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGATGTCAGGTACTGCAAC	0.388													ENSG00000175065																																					0													102.0	103.0	103.0					18																	28979506		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1277+1G>A	18.37:g.28979506G>A			A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.R426K	ENST00000308128.4	37	c.1277	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	8.883	0.952136	0.18431	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.50548	0.74;0.74	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.38381	N	0.001701	T	0.56659	0.2000	M	0.76838	2.35	0.37048	D	0.897487	P;P	0.46395	0.845;0.877	P;P	0.48654	0.55;0.585	T	0.62501	-0.6841	10	0.31617	T	0.26	.	13.4537	0.61187	0.0:0.0:0.7395:0.2605	.	426;426	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	K	426	ENSP00000311859:R426K;ENSP00000352785:R426K	ENSP00000311859:R426K	R	+	2	0	DSG4	27233504	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	2.456000	0.44997	2.649000	0.89929	0.650000	0.86243	AGA	-	DSG4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	0	0	0	38	38	90	0.00	0.00	G	NM_177986	Missense_Mutation	28979506	+1	10	35	3	17	tier1	no_errors	ENST00000359747	ensembl	human	known	74_37	missense	76.92	66.04	SNP	1.000	A	10	3
GSTM4	2948	genome.wustl.edu	37	1	110203976	110203976	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:110203976C>T	ENST00000369836.4	+	0	1066				GSTM4_ENST00000336075.5_3'UTR|GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000369833.1_3'UTR|GSTM4_ENST00000495742.1_3'UTR	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CCTGCCTCCTCGTTCCTTTCT	0.572													ENSG00000168765																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.*100C>T	1.37:g.110203976C>T			A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	R	SNP	-	NULL	ENST00000369836.4	37	NULL	CCDS807.1	1																																																																																			-	GSTM4	-	-		0.572	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM4	HGNC	protein_coding	OTTHUMT00000032187.1	0	0	0	31	31	62	0.00	0.00	C	NM_000850		110203976	+1	9	18	33	42	tier1	no_errors	ENST00000493395	ensembl	human	known	74_37	rna	21.43	30.00	SNP	0.000	T	9	33
PLEKHG6	55200	genome.wustl.edu	37	12	6436547	6436547	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:6436547G>A	ENST00000396988.3	+	15	2028	c.1798G>A	c.(1798-1800)Ggg>Agg	p.G600R	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.G600R|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.G130R|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.G568R	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	600						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CACCCCCACGGGGTCCCGCTC	0.627													ENSG00000008323																																					0													113.0	116.0	115.0					12																	6436547		2203	4300	6503	SO:0001583	missense	0			-	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1798G>A	12.37:g.6436547G>A	ENSP00000380185:p.Gly600Arg		Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G600R	ENST00000396988.3	37	c.1798	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	8.442	0.850995	0.17034	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.62364	0.14;0.14;0.03	5.13	3.18	0.36537	.	1.107710	0.06813	N	0.790778	T	0.46483	0.1395	L	0.27053	0.805	0.09310	N	1	P;P	0.44429	0.835;0.622	B;B	0.40066	0.318;0.169	T	0.27706	-1.0066	10	0.20519	T	0.43	-2.0494	5.7235	0.18000	0.0991:0.0:0.7093:0.1916	.	568;600	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	R	600;600;568;130	ENSP00000011684:G600R;ENSP00000380185:G600R;ENSP00000393194:G568R	ENSP00000011684:G600R	G	+	1	0	PLEKHG6	6306808	0.000000	0.05858	0.136000	0.22124	0.147000	0.21601	0.636000	0.24644	1.151000	0.42436	-0.258000	0.10820	GGG	-	PLEKHG6	-	NULL		0.627	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	0	0	0	87	87	45	0.00	0.00	G	NM_018173		6436547	+1	14	10	49	37	tier1	no_errors	ENST00000011684	ensembl	human	known	74_37	missense	22.22	21.28	SNP	0.001	A	14	49
TRBV11-2	28581	genome.wustl.edu	37	7	142197673	142197673	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:142197673C>T	ENST00000471935.1	-	0	304									T cell receptor beta variable 11-2																		GAAAATCGATCCTTAGGCAAC	0.502													ENSG00000241657																																					0													139.0	130.0	133.0					7																	142197673		1901	4127	6028			0			-	L36092		7q34	2012-02-07			ENSG00000241657	ENSG00000241657		"""T cell receptors / TRB locus"""	12181	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV112, TCRBV11S2, TCRBV21S3A2N2T			OTTHUMG00000158536		7.37:g.142197673C>T				R	SNP	-	NULL	ENST00000471935.1	37	NULL		7																																																																																			-	TRBV11-2	-	-		0.502	TRBV11-2-001	KNOWN	basic	lincRNA	TRBV11-2	HGNC	lincRNA	OTTHUMT00000351242.2	0	0	0	54	54	79	0.00	0.00	C	NG_001333		142197673	-1	6	11	17	25	tier1	no_errors	ENST00000471935	ensembl	human	known	74_37	rna	26.09	30.56	SNP	0.000	T	6	17
ABCC8	6833	genome.wustl.edu	37	11	17449462	17449462	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:17449462G>A	ENST00000389817.3	-	15	2136	c.2068C>T	c.(2068-2070)Cca>Tca	p.P690S	ABCC8_ENST00000302539.4_Missense_Mutation_p.P690S|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	690	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ATTCCATCTGGGGTCCACGTG	0.567													ENSG00000006071																																					0													173.0	134.0	147.0					11																	17449462		2200	4293	6493	SO:0001583	missense	0			-	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2068C>T	11.37:g.17449462G>A	ENSP00000374467:p.Pro690Ser		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P690S	ENST00000389817.3	37	c.2068	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695078	0.30052	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89939	-2.59;-2.59	5.3	3.07	0.35406	ABC transporter-like (1);	0.287457	0.30649	N	0.009177	T	0.76033	0.3931	N	0.05574	-0.02	0.35660	D	0.812498	B	0.02656	0.0	B	0.04013	0.001	T	0.73110	-0.4086	10	0.27082	T	0.32	.	11.8897	0.52622	0.1744:0.0:0.8256:0.0	.	690	Q09428	ABCC8_HUMAN	S	690;690;694	ENSP00000374467:P690S;ENSP00000303960:P690S	ENSP00000303960:P690S	P	-	1	0	ABCC8	17406038	1.000000	0.71417	0.979000	0.43373	0.932000	0.56968	3.843000	0.55865	1.230000	0.43646	0.561000	0.74099	CCA	-	ABCC8	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.567	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	0	0	0	44	44	106	0.00	0.00	G	NM_000352		17449462	-1	17	53	12	30	tier1	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	58.62	63.10	SNP	0.777	A	17	12
IL17REL	400935	genome.wustl.edu	37	22	50436459	50436459	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:50436459G>A	ENST00000389983.2	-	11	1078	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	IL17REL_ENST00000341280.5_Silent_p.L272L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	272										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTCACCTTCAGGCAGAGCTGG	0.706													ENSG00000188263																																					0													26.0	29.0	28.0					22																	50436459		2182	4282	6464	SO:0001819	synonymous_variant	0			-	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.814C>T	22.37:g.50436459G>A			A6NCN4|A6PVC1	Silent	SNP	NULL	p.L272	ENST00000389983.2	37	c.814	CCDS33679.1	22																																																																																			-	IL17REL	-	NULL		0.706	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL17REL	HGNC	protein_coding	OTTHUMT00000317011.1	0	0	0	8	8	19	0.00	0.00	G	NM_001001694		50436459	-1	9	4	7	14	tier1	no_errors	ENST00000341280	ensembl	human	known	74_37	silent	56.25	21.05	SNP	0.997	A	9	7
PDE1B	5153	genome.wustl.edu	37	12	54971042	54971042	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:54971042C>T	ENST00000243052.3	+	15	1977	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	PDE1B_ENST00000538346.1_Missense_Mutation_p.S473F|PDE1B_ENST00000550620.1_Missense_Mutation_p.S494F|PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	514					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GACGAGCTGTCCCCCTGTGAA	0.552													ENSG00000123360																																					0													140.0	134.0	136.0					12																	54971042		2203	4300	6503	SO:0001583	missense	0			-	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1541C>T	12.37:g.54971042C>T	ENSP00000243052:p.Ser514Phe		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.S514F	ENST00000243052.3	37	c.1541	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258716	0.59321	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.71934	-0.61;-0.57;-0.59	4.71	3.81	0.43845	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.704144	0.14243	N	0.331961	T	0.66197	0.2765	N	0.14661	0.345	0.80722	D	1	D;P	0.53885	0.963;0.939	P;P	0.55391	0.775;0.601	T	0.67585	-0.5633	10	0.66056	D	0.02	.	11.0426	0.47840	0.0:0.8121:0.1879:0.0	.	494;514	Q01064-2;Q01064	.;PDE1B_HUMAN	F	514;473;494	ENSP00000243052:S514F;ENSP00000442559:S473F;ENSP00000448519:S494F	ENSP00000243052:S514F	S	+	2	0	PDE1B	53257309	0.999000	0.42202	1.000000	0.80357	0.824000	0.46624	2.347000	0.44036	1.331000	0.45412	0.561000	0.74099	TCC	-	PDE1B	-	NULL		0.552	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	0	0	0	47	47	157	0.00	0.00	C			54971042	+1	8	34	29	57	tier1	no_errors	ENST00000243052	ensembl	human	known	74_37	missense	21.62	37.36	SNP	1.000	T	8	29
MALAT1	378938	genome.wustl.edu	37	11	65266997	65266997	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:65266997C>T	ENST00000534336.1	+	0	1765				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATTAAAAGACCTTGAAATCCA	0.343													ENSG00000251562																																					0													8.0	8.0	8.0					11																	65266997		868	1975	2843			0			-	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266997C>T				R	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			-	MALAT1	-	-		0.343	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	0	0	0	179	179	95	0.00	0.00	C	NR_002819		65266997	+1	62	56	114	104	tier1	no_errors	ENST00000534336	ensembl	human	known	74_37	rna	35.23	35.00	SNP	0.000	T	62	114
RALGAPA2	57186	genome.wustl.edu	37	20	20596831	20596831	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:20596831A>G	ENST00000202677.7	-	13	1551	c.1544T>C	c.(1543-1545)tTt>tCt	p.F515S		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	515					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTTCGTCAAAAATACCTTAAA	0.294													ENSG00000188559																																					0													47.0	42.0	43.0					20																	20596831		1796	4051	5847	SO:0001583	missense	0			-	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1544T>C	20.37:g.20596831A>G	ENSP00000202677:p.Phe515Ser		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.F515S	ENST00000202677.7	37	c.1544	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.3|25.3	4.622318|4.622318	0.87460|0.87460	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	T|T	0.79352|0.79940	-1.26|-1.32	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90065|0.90065	0.6897|0.6897	M|M	0.87180|0.87180	2.865|2.865	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.71674	.|0.998	.|P	.|0.61658	.|0.892	D|D	0.91703|0.91703	0.5375|0.5375	8|10	0.72032|0.87932	D|D	0.01|0	.|.	16.4622|16.4622	0.84064|0.84064	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|515	.|Q2PPJ7	.|RGPA2_HUMAN	L|S	332|515	ENSP00000400085:F332L|ENSP00000202677:F515S	ENSP00000400085:F332L|ENSP00000202677:F515S	F|F	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20544831|20544831	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.626000|8.626000	0.90969|0.90969	2.289000|2.289000	0.77006|0.77006	0.533000|0.533000	0.62120|0.62120	TTT|TTT	-	RALGAPA2	-	NULL		0.294	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	0	0	1	90	90	114	0.00	0.87	A	NM_020343		20596831	-1	44	40	86	98	tier1	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	33.85	28.99	SNP	1.000	G	44	86
DSCAM	1826	genome.wustl.edu	37	21	41450707	41450707	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:41450707C>T	ENST00000400454.1	-	26	5095	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1540	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)				CAGGTGGCTTCCTGCAGGTCA	0.567													ENSG00000171587																									Melanoma(134;970 1778 1785 21664 32388)												0													57.0	63.0	61.0					21																	41450707		2159	4278	6437	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.4618G>A	21.37:g.41450707C>T	ENSP00000383303:p.Glu1540Lys		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.E1540K	ENST00000400454.1	37	c.4618	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990779	0.93106	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57907	0.37;0.37	4.85	4.85	0.62838	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051216	0.85682	D	0.000000	T	0.61515	0.2353	M	0.82923	2.615	0.54753	D	0.999989	B	0.31655	0.334	B	0.37888	0.26	T	0.61272	-0.7096	10	0.21014	T	0.42	.	18.3543	0.90352	0.0:1.0:0.0:0.0	.	1540	O60469	DSCAM_HUMAN	K	1540;1292	ENSP00000383303:E1540K;ENSP00000385342:E1292K	ENSP00000383303:E1540K	E	-	1	0	DSCAM	40372577	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.684000	0.84104	2.397000	0.81536	0.563000	0.77884	GAA	-	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	0	0	0	53	53	84	0.00	0.00	C	NM_001389		41450707	-1	21	29	26	43	tier1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	44.68	40.28	SNP	1.000	T	21	26
TTN	7273	genome.wustl.edu	37	2	179494117	179494117	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179494117C>T	ENST00000591111.1	-	190	39636	c.39412G>A	c.(39412-39414)Gaa>Aaa	p.E13138K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5906K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14779K|TTN_ENST00000342992.6_Missense_Mutation_p.E12211K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5839K|TTN_ENST00000460472.2_Missense_Mutation_p.E5714K|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13138	Ig-like 87.				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)			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)			GTGGCTGTTTCCCCTGCAGTC	0.473													ENSG00000155657																																					0													120.0	119.0	119.0					2																	179494117		1972	4177	6149	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.39412G>A	2.37:g.179494117C>T	ENSP00000465570:p.Glu13138Lys		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.E12211K	ENST00000591111.1	37	c.36631		2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087276	0.76642	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68320	0.2988	L	0.58354	1.805	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.68078	-0.5504	9	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	5714;5839;5906;13138	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12211;5714;5906;5839;5714	ENSP00000343764:E12211K;ENSP00000434586:E5714K;ENSP00000340554:E5906K;ENSP00000352154:E5839K	ENSP00000340554:E5906K	E	-	1	0	TTN	179202362	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.770000	0.85390	2.826000	0.97356	0.563000	0.77884	GAA	-	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	1	1	0	99	99	115	1.00	0.00	C	NM_133378		179494117	-1	17	21	49	42	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25.76	33.33	SNP	1.000	T	17	49
SPPL2C	162540	genome.wustl.edu	37	17	43922096	43922096	+	5'Flank	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:43922096G>A	ENST00000329196.5	+	0	0				MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C							endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										ATTCTAGAGGGACCCTGTGCC	0.602													ENSG00000264589																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8			17.37:g.43922096G>A	Exception_encountered		Q8TC67|Q8WVZ6	R	SNP	-	NULL	ENST00000329196.5	37	NULL	CCDS32673.1	17																																																																																			-	MAPT-AS1	-	-		0.602	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPT-AS1	HGNC	protein_coding	OTTHUMT00000441156.1	0	0	0	15	15	61	0.00	0.00	G	NM_175882		43922096	-1	7	15	3	11	tier1	no_errors	ENST00000581125	ensembl	human	known	74_37	rna	70.00	55.56	SNP	0.000	A	7	3
RYR1	6261	genome.wustl.edu	37	19	39066567	39066567	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:39066567C>T	ENST00000359596.3	+	97	14138	c.14138C>T	c.(14137-14139)cCt>cTt	p.P4713L	RYR1_ENST00000355481.4_Missense_Mutation_p.P4708L|RYR1_ENST00000360985.3_Missense_Mutation_p.P4708L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4713					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGTCTTTCCCTAGCAACTAC	0.562													ENSG00000196218																																					0													133.0	118.0	123.0					19																	39066567		2203	4300	6503	SO:0001583	missense	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14138C>T	19.37:g.39066567C>T	ENSP00000352608:p.Pro4713Leu		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P4713L	ENST00000359596.3	37	c.14138	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	15.80	2.940394	0.52972	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99511	-6.05;-6.04;-6.04	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000002	D	0.99536	0.9834	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98208	1.0471	10	0.87932	D	0	.	17.4551	0.87605	0.0:1.0:0.0:0.0	.	4708;4713	P21817-2;P21817	.;RYR1_HUMAN	L	4713;4708;4708	ENSP00000352608:P4713L;ENSP00000347667:P4708L;ENSP00000354254:P4708L	ENSP00000347667:P4708L	P	+	2	0	RYR1	43758407	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	2.453000	0.82957	0.556000	0.70494	CCT	-	RYR1	-	NULL		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0	0	19	19	70	0.00	0.00	C			39066567	+1	5	29	10	39	tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	33.33	42.65	SNP	1.000	T	5	10
FAR2	55711	genome.wustl.edu	37	12	29423519	29423519	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:29423519C>T	ENST00000536681.3	+	2	383	c.137C>T	c.(136-138)cCc>cTc	p.P46L	FAR2_ENST00000182377.4_Missense_Mutation_p.P46L|FAR2_ENST00000547116.1_Intron	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	46					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTTGTGAGGCCCAAGGCTGGC	0.527													ENSG00000064763																																					0													67.0	65.0	66.0					12																	29423519		2203	4300	6503	SO:0001583	missense	0			-	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.137C>T	12.37:g.29423519C>T	ENSP00000443291:p.Pro46Leu		F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	pfam_Male_sterile_D-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.P46L	ENST00000536681.3	37	c.137	CCDS8717.1	12	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450496	0.43531	.	.	ENSG00000064763	ENST00000536681;ENST00000182377	T;T	0.42513	0.97;0.97	5.3	3.43	0.39272	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.058263	0.64402	D	0.000001	T	0.64605	0.2613	M	0.86953	2.85	0.80722	D	1	D	0.59357	0.985	P	0.62298	0.9	T	0.69461	-0.5139	10	0.72032	D	0.01	-18.2554	12.3193	0.54975	0.3079:0.6921:0.0:0.0	.	46	Q96K12	FACR2_HUMAN	L	46	ENSP00000443291:P46L;ENSP00000182377:P46L	ENSP00000182377:P46L	P	+	2	0	FAR2	29314786	1.000000	0.71417	0.995000	0.50966	0.061000	0.15899	5.659000	0.68010	0.583000	0.29574	-0.314000	0.08810	CCC	-	FAR2	-	pfam_Male_sterile_D-bd,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like		0.527	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	0	0	0	62	62	101	0.00	0.00	C	NM_018099		29423519	+1	17	21	58	58	tier1	no_errors	ENST00000182377	ensembl	human	known	74_37	missense	22.67	26.58	SNP	1.000	T	17	58
NEUROD4	58158	genome.wustl.edu	37	12	55420286	55420286	+	Missense_Mutation	SNP	G	G	A	rs552404160		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55420286G>A	ENST00000242994.3	+	2	441	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	21					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M21I(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CATCCTGGATGGATAAAGGTC	0.433													ENSG00000123307	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16371	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)											81.0	76.0	78.0					12																	55420286		2203	4300	6503	SO:0001583	missense	0			-	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.63G>A	12.37:g.55420286G>A	ENSP00000242994:p.Met21Ile		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.M21I	ENST00000242994.3	37	c.63	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489560	0.26686	.	.	ENSG00000123307	ENST00000242994	D	0.94931	-3.56	5.25	4.36	0.52297	.	0.045710	0.85682	D	0.000000	D	0.91637	0.7357	L	0.60455	1.87	0.51767	D	0.999934	B	0.02656	0.0	B	0.04013	0.001	D	0.87587	0.2488	10	0.22109	T	0.4	-24.4641	12.2558	0.54623	0.0836:0.0:0.9164:0.0	.	21	Q9HD90	NDF4_HUMAN	I	21	ENSP00000242994:M21I	ENSP00000242994:M21I	M	+	3	0	NEUROD4	53706553	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	0.725000	0.25970	1.342000	0.45619	0.650000	0.86243	ATG	-	NEUROD4	-	pirsf_TF_bHLH_NeuroD		0.433	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	0	0	0	105	105	162	0.00	0.00	G			55420286	+1	27	21	77	62	tier1	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	25.96	25.30	SNP	1.000	A	27	77
STON2	85439	genome.wustl.edu	37	14	81837492	81837492	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:81837492G>A	ENST00000267540.2	-	3	611	c.411C>T	c.(409-411)tcC>tcT	p.S137S	STON2_ENST00000555447.1_Silent_p.S137S	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	137					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGGAGTCAAAGGAAGGGCATG	0.473													ENSG00000140022																																					0													94.0	92.0	93.0					14																	81837492		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.411C>T	14.37:g.81837492G>A			G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S137	ENST00000267540.2	37	c.411	CCDS9875.1	14																																																																																			-	STON2	-	pfam_Stonin2_N,pirsf_Stonin		0.473	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	0	0	0	75	75	90	0.00	0.00	G	NM_033104		81837492	-1	33	54	21	46	tier1	no_errors	ENST00000267540	ensembl	human	known	74_37	silent	61.11	54.00	SNP	1.000	A	33	21
EIF4G1	1981	genome.wustl.edu	37	3	184043534	184043534	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:184043534C>T	ENST00000346169.2	+	21	3392				EIF4G1_ENST00000414031.1_Intron|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000435046.2_Intron|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000441154.1_Intron|EIF4G1_ENST00000319274.6_Intron|EIF4G1_ENST00000411531.1_Intron|EIF4G1_ENST00000382330.3_Intron|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000424196.1_Intron|EIF4G1_ENST00000352767.3_Intron|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Intron|EIF4G1_ENST00000342981.4_Intron|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACTGAGACACCATGATGGAAC	0.532													ENSG00000212158																																					0													181.0	180.0	180.0					3																	184043534		876	1991	2867	SO:0001627	intron_variant	0			-	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3122-105C>T	3.37:g.184043534C>T			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	R	SNP	-	NULL	ENST00000346169.2	37	NULL	CCDS3259.1	3																																																																																			-	SNORD66	-	-		0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	SNORD66	HGNC	protein_coding	OTTHUMT00000345733.1	0	0	0	31	31	34	0.00	0.00	C	NM_182917		184043534	+1	12	9	14	31	tier1	no_errors	ENST00000390856	ensembl	human	known	74_37	rna	46.15	22.50	SNP	0.003	T	12	14
SNHG14	104472715	genome.wustl.edu	37	15	25438473	25438473	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:25438473G>A	ENST00000424208.1	+	0	1332				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAGTTGGGTCGATGATGAGAA	0.527													ENSG00000224078																																					0													368.0	370.0	369.0					15																	25438473		876	1991	2867			0			-			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438473G>A				R	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			-	SNHG14	-	-		0.527	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	0	0	0	88	88	20	0.00	0.00	G			25438473	+1	30	5	29	15	tier1	no_errors	ENST00000363358	ensembl	human	known	74_37	rna	50.85	25.00	SNP	0.013	A	30	29
EFCAB11	90141	genome.wustl.edu	37	14	90263658	90263658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:90263658G>A	ENST00000316738.7	-	6	449	c.421C>T	c.(421-423)Cga>Tga	p.R141*	EFCAB11_ENST00000555872.1_Nonsense_Mutation_p.R117*|EFCAB11_ENST00000556609.1_Nonsense_Mutation_p.R93*|RP11-33N16.3_ENST00000555070.1_RNA	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	141	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						TCTGAATCTCGATCTACTTCC	0.378													ENSG00000140025																																					0													149.0	130.0	137.0					14																	90263658		2203	4300	6503	SO:0001587	stop_gained	0			-	AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.421C>T	14.37:g.90263658G>A	ENSP00000326267:p.Arg141*		B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Nonsense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R141*	ENST00000316738.7	37	c.421	CCDS9887.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.932203	0.97116	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609	.	.	.	6.03	6.03	0.97812	.	0.254751	0.32106	N	0.006580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.9104	19.545	0.95291	0.0:0.0:1.0:0.0	.	.	.	.	X	141;117;93	.	ENSP00000326267:R141X	R	-	1	2	EFCAB11	89333411	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.805000	0.75191	2.861000	0.98227	0.655000	0.94253	CGA	-	EFCAB11	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.378	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	HGNC	protein_coding	OTTHUMT00000309022.2	0	0	0	47	47	93	0.00	0.00	G	NM_145231		90263658	-1	23	26	35	26	tier1	no_errors	ENST00000316738	ensembl	human	known	74_37	nonsense	39.66	50.00	SNP	1.000	A	23	35
TLR4	7099	genome.wustl.edu	37	9	120466694	120466694	+	5'UTR	SNP	G	G	A	rs2737192		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:120466694G>A	ENST00000355622.6	+	0	45				TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4						activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CGGTGATAGCGAGCCACGCAT	0.567													ENSG00000136869																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.-57G>A	9.37:g.120466694G>A			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	R	SNP	-	NULL	ENST00000355622.6	37	NULL	CCDS6818.1	9																																																																																			rs2737192	TLR4	-	-		0.567	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	0	0	1	9	9	76	0.00	1.30	G	NM_138554		120466694	+1	4	23	4	18	tier1	no_errors	ENST00000472304	ensembl	human	known	74_37	rna	50.00	56.10	SNP	0.000	A	4	4
SAP25	100316904	genome.wustl.edu	37	7	100170370	100170370	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:100170370G>A	ENST00000538735.1	-	5	399	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_001168682.1	NP_001162153.1	Q8TEE9	SAP25_HUMAN	Sin3A-associated protein, 25kDa	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACACCACCGGGAACCCTAGGA	0.682													ENSG00000205307																																					0													57.0	58.0	57.0					7																	100170370		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS55137.1	7q22.1	2011-05-19			ENSG00000205307	ENSG00000205307			41908	protein-coding gene	gene with protein product						16449650	Standard	NM_001168682		Approved	FLJ00248	uc022aip.1	Q8TEE9		ENST00000538735.1:c.222C>T	7.37:g.100170370G>A				Silent	SNP	NULL	p.F74	ENST00000538735.1	37	c.222	CCDS55137.1	7																																																																																			-	SAP25	-	NULL		0.682	SAP25-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP25	HGNC	protein_coding		1	1	0	112	112	29	0.88	0.00	G			100170370	-1	35	16	61	18	tier1	no_errors	ENST00000538735	ensembl	human	known	74_37	silent	36.46	47.06	SNP	0.951	A	35	61
PABPC1	26986	genome.wustl.edu	37	8	101721931	101721931	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:101721931C>T	ENST00000318607.5	-	8	2129	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.G289E|PABPC1_ENST00000522387.1_Missense_Mutation_p.G302E	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	334	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAAACCAAACCCTTTGCTGCG	0.378													ENSG00000070756																																					0													66.0	59.0	61.0					8																	101721931		2203	4300	6503	SO:0001583	missense	0			-	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1001G>A	8.37:g.101721931C>T	ENSP00000313007:p.Gly334Glu		Q15097|Q93004	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.G334E	ENST00000318607.5	37	c.1001	CCDS6289.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.876295|4.876295	0.91664|0.91664	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	T;T;T|T	0.26957|0.27104	1.7;1.7;1.7|1.69	4.92|4.92	4.92|4.92	0.64577|0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000009|0.000009	T|T	0.62514|0.62514	0.2434|0.2434	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.986;0.993;0.994|.	T|T	0.73754|0.73754	-0.3883|-0.3883	10|8	0.66056|0.87932	D|D	0.02|0	.|.	18.4911|18.4911	0.90848|0.90848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302;334;334|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	E|S	334;334;289;302|203	ENSP00000313007:G334E;ENSP00000429594:G289E;ENSP00000429395:G302E|ENSP00000427914:G203S	ENSP00000313007:G334E|ENSP00000427914:G203S	G|G	-|-	2|1	0|0	PABPC1|PABPC1	101791107|101791107	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.997000|0.997000	0.91878|0.91878	7.748000|7.748000	0.85085|0.85085	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GGG|GGT	-	PABPC1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.378	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1	0	0	0	70	70	52	0.00	0.00	C	NM_002568		101721931	-1	29	19	68	28	tier1	no_errors	ENST00000318607	ensembl	human	known	74_37	missense	29.90	39.58	SNP	1.000	T	29	68
B4GALT3	8703	genome.wustl.edu	37	1	161141447	161141447	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:161141447C>T	ENST00000319769.5	-	0	1563				PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_3'UTR|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CTACAGGAGCCCAGCTCCAGT	0.552													ENSG00000158850																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.*159G>A	1.37:g.161141447C>T			D3DVG3|O60910|Q9BPZ4|Q9H8T2	R	SNP	-	NULL	ENST00000319769.5	37	NULL	CCDS1222.1	1																																																																																			-	B4GALT3	-	-		0.552	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	0	0	0	78	78	72	0.00	0.00	C	NM_003779		161141447	-1	11	15	49	44	tier1	no_errors	ENST00000470882	ensembl	human	known	74_37	rna	18.33	25.42	SNP	1.000	T	11	49
SLC16A2	6567	genome.wustl.edu	37	X	73744247	73744247	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:73744247C>T	ENST00000587091.1	+	3	806	c.629C>T	c.(628-630)tCc>tTc	p.S210F	SLC16A2_ENST00000276033.5_Missense_Mutation_p.S284F	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	210					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGTGGCTGTTCCTTCGCCTTT	0.557													ENSG00000147100																																					0													130.0	107.0	115.0					X																	73744247		2203	4300	6503	SO:0001583	missense	0			-		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.629C>T	X.37:g.73744247C>T	ENSP00000465734:p.Ser210Phe		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S284F	ENST00000587091.1	37	c.851	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062708	0.76187	.	.	ENSG00000147100	ENST00000276033	T	0.61158	0.13	5.75	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);	0.157492	0.64402	D	0.000017	T	0.76198	0.3954	M	0.85373	2.75	0.51767	D	0.999938	P	0.48089	0.905	P	0.62885	0.908	T	0.80113	-0.1518	10	0.87932	D	0	.	13.2984	0.60311	0.0:0.9226:0.0:0.0774	.	210	P36021	MOT8_HUMAN	F	284	ENSP00000276033:S284F	ENSP00000276033:S284F	S	+	2	0	SLC16A2	73660972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.603000	0.61105	2.420000	0.82092	0.597000	0.82753	TCC	-	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.557	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	0	0	0	66	66	70	0.00	0.00	C			73744247	+1	28	50	14	24	tier1	no_errors	ENST00000276033	ensembl	human	known	74_37	missense	66.67	67.57	SNP	1.000	T	28	14
OR6C2	341416	genome.wustl.edu	37	12	55846090	55846090	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55846090C>T	ENST00000322678.1	+	1	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	31					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCTATTTCTCACCTACATGT	0.403													ENSG00000179695																																					0													127.0	120.0	122.0					12																	55846090		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.93C>T	12.37:g.55846090C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L31	ENST00000322678.1	37	c.93	CCDS31824.1	12																																																																																			-	OR6C2	-	prints_GPCR_Rhodpsn		0.403	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	HGNC	protein_coding	OTTHUMT00000406676.1	0	0	0	57	57	108	0.00	0.00	C	NM_054105		55846090	+1	12	25	40	52	tier1	no_errors	ENST00000322678	ensembl	human	known	74_37	silent	23.08	32.47	SNP	0.000	T	12	40
CADPS	8618	genome.wustl.edu	37	3	62631501	62631501	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:62631501G>A	ENST00000383710.4	-	6	1570	c.1221C>T	c.(1219-1221)gtC>gtT	p.V407V	CADPS_ENST00000357948.3_Silent_p.V407V|CADPS_ENST00000283269.9_Silent_p.V407V|CADPS_ENST00000490353.2_Silent_p.V407V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	407	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGAGGCCTTGGACTTCCATAA	0.468													ENSG00000163618																																					0													143.0	135.0	138.0					3																	62631501		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1221C>T	3.37:g.62631501G>A			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V407	ENST00000383710.4	37	c.1221	CCDS46858.1	3																																																																																			-	CADPS	-	superfamily_C2_dom		0.468	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	0	0	1	77	77	153	0.00	0.65	G	NM_003716, NM_183393, NM_183394		62631501	-1	24	50	50	77	tier1	no_errors	ENST00000383710	ensembl	human	known	74_37	silent	32.00	38.76	SNP	0.763	A	24	50
CD80	941	genome.wustl.edu	37	3	119263509	119263509	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:119263509C>T	ENST00000264246.3	-	3	668	c.306G>A	c.(304-306)gtG>gtA	p.V102V	CD80_ENST00000478182.1_Silent_p.V102V|CD80_ENST00000383668.3_Silent_p.V102V|CD80_ENST00000383669.3_Silent_p.V102V	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	102	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	GAGCCAGGATCACAATGGAGA	0.473													ENSG00000121594																									Melanoma(132;135 1764 1806 5833 14593)												0													146.0	141.0	142.0					3																	119263509		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.306G>A	3.37:g.119263509C>T			Q5DTA9|Q5DTB0	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom	p.V102	ENST00000264246.3	37	c.306	CCDS2989.1	3																																																																																			-	CD80	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom		0.473	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD80	HGNC	protein_coding	OTTHUMT00000355196.1	0	0	0	67	67	88	0.00	0.00	C	NM_005191		119263509	-1	31	51	57	75	tier1	no_errors	ENST00000264246	ensembl	human	known	74_37	silent	35.23	40.48	SNP	0.039	T	31	57
IDH3B	3420	genome.wustl.edu	37	20	2639478	2639478	+	Silent	SNP	C	C	T	rs3180299		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:2639478C>T	ENST00000380843.4	-	12	1107	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R	SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000488299.1_5'UTR|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000380851.5_Intron	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TGTCTCGAGTCCGCACCTACA	0.537													ENSG00000101365																																					0													79.0	72.0	74.0					20																	2639478		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1077G>A	20.37:g.2639478C>T			B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D	p.R359	ENST00000380843.4	37	c.1077	CCDS13032.1	20																																																																																			rs3180299	IDH3B	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D		0.537	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	0	0	0	50	50	46	0.00	0.00	C			2639478	-1	18	22	25	35	tier1	no_errors	ENST00000380843	ensembl	human	known	74_37	silent	41.86	38.60	SNP	1.000	T	18	25
TOP2B	7155	genome.wustl.edu	37	3	25668163	25668163	+	Silent	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:25668163T>C	ENST00000264331.4	-	18	2111	c.2112A>G	c.(2110-2112)caA>caG	p.Q704Q	TOP2B_ENST00000435706.2_Silent_p.Q699Q	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	704					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CATATAAAAATTGCTAAGAGA	0.328													ENSG00000077097																																					0													39.0	41.0	40.0					3																	25668163		2123	4271	6394	SO:0001819	synonymous_variant	0			-	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2112A>G	3.37:g.25668163T>C			Q13600|Q9UMG8|Q9UQP8	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.Q704	ENST00000264331.4	37	c.2112		3																																																																																			-	TOP2B	-	superfamily_Topo_IIA_like_dom		0.328	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		0	0	1	115	115	64	0.00	1.54	T			25668163	-1	38	22	84	57	tier1	no_errors	ENST00000264331	ensembl	human	known	74_37	silent	31.15	27.85	SNP	1.000	C	38	84
EIF4B	1975	genome.wustl.edu	37	12	53427672	53427672	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:53427672C>T	ENST00000262056.9	+	9	1388	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Silent_p.S315S|EIF4B_ENST00000420463.3_Silent_p.S354S	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	354					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTCCCAGTCCACTCGAGCTG	0.473													ENSG00000063046																																					0													52.0	49.0	50.0					12																	53427672		1819	4070	5889	SO:0001819	synonymous_variant	0			-	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1062C>T	12.37:g.53427672C>T			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S354	ENST00000262056.9	37	c.1062	CCDS41788.1	12																																																																																			-	EIF4B	-	NULL		0.473	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	0	0	0	88	88	27	0.00	0.00	C	NM_001417		53427672	+1	19	9	52	17	tier1	no_errors	ENST00000262056	ensembl	human	known	74_37	silent	26.76	34.62	SNP	1.000	T	19	52
MYO3B	140469	genome.wustl.edu	37	2	171055893	171055893	+	Missense_Mutation	SNP	C	C	T	rs369752113		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:171055893C>T	ENST00000408978.4	+	2	321	c.178C>T	c.(178-180)Cca>Tca	p.P60S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.P60S|MYO3B_ENST00000334231.6_Missense_Mutation_p.P69S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AATTCTGGATCCAGTCAGTGT	0.368													ENSG00000071909																																					0								C	SER/PRO,SER/PRO,SER/PRO	1,3753		0,1,1876	69.0	69.0	69.0		178,178,178	4.7	1.0	2		69	0,8192		0,0,4096	no	missense,missense,missense	MYO3B	NM_001083615.2,NM_001171642.1,NM_138995.3	74,74,74	0,1,5972	TT,TC,CC		0.0,0.0266,0.0084	benign,benign,benign	60/1315,60/1276,60/1342	171055893	1,11945	1877	4096	5973	SO:0001583	missense	0			-		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.178C>T	2.37:g.171055893C>T	ENSP00000386213:p.Pro60Ser		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P69S	ENST00000408978.4	37	c.205	CCDS42773.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.182913|2.182913	0.38511|0.38511	2.66E-4|2.66E-4	0.0|0.0	ENSG00000071909|ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690	T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08|.	5.55|5.55	4.67|4.67	0.58626|0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.38241|0.38241	0.1033|0.1033	N|N	0.10685|0.10685	0.025|0.025	0.50813|0.50813	D|D	0.999892|0.999892	B;B;B;B|.	0.18013|.	0.015;0.025;0.007;0.025|.	B;B;B;B|.	0.24269|.	0.02;0.034;0.005;0.052|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|5	0.21014|.	T|.	0.42|.	.|.	14.7734|14.7734	0.69696|0.69696	0.0:0.9296:0.0:0.0704|0.0:0.9296:0.0:0.0704	.|.	60;60;60;60|.	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|.	.;.;.;MYO3B_HUMAN|.	S|F	60;60;59;69;69|59	ENSP00000386497:P60S;ENSP00000386213:P60S;ENSP00000446237:P69S;ENSP00000335100:P69S|.	ENSP00000314213:P59S|.	P|S	+|+	1|2	0|0	MYO3B|MYO3B	170764139|170764139	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.941000|0.941000	0.58515|0.58515	5.957000|5.957000	0.70323|0.70323	1.324000|1.324000	0.45282|0.45282	0.563000|0.563000	0.77884|0.77884	CCA|TCC	-	MYO3B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	0	0	0	73	73	125	0.00	0.00	C			171055893	+1	15	24	22	61	tier1	no_errors	ENST00000334231	ensembl	human	known	74_37	missense	40.54	28.24	SNP	1.000	T	15	22
CYBRD1	79901	genome.wustl.edu	37	2	172411076	172411076	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:172411076C>T	ENST00000321348.4	+	4	798	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CYBRD1_ENST00000375252.3_Missense_Mutation_p.R131C|CYBRD1_ENST00000409484.1_Silent_p.F142F	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	200	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						AAGGTGTTTTCGTAAATACGC	0.443													ENSG00000071967																																					0													76.0	72.0	74.0					2																	172411076		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.600C>T	2.37:g.172411076C>T			B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	NULL	p.R131C	ENST00000321348.4	37	c.391	CCDS2244.1	2	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633920	0.47049	.	.	ENSG00000071967	ENST00000375252	.	.	.	5.16	-2.47	0.06442	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.27442	N	0.953691	B	0.09022	0.002	B	0.01281	0.0	T	0.36601	-0.9741	7	0.87932	D	0	-20.2286	9.6213	0.39723	0.0:0.1363:0.1246:0.7392	.	131	Q53TN4-2	.	C	131	.	ENSP00000364401:R131C	R	+	1	0	CYBRD1	172119322	0.990000	0.36364	0.025000	0.17156	0.721000	0.41392	0.208000	0.17415	-0.357000	0.08175	0.655000	0.94253	CGT	-	CYBRD1	-	NULL		0.443	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	HGNC	protein_coding	OTTHUMT00000255344.2	0	0	0	74	74	155	0.00	0.00	C	NM_024843		172411076	+1	22	43	36	62	tier1	no_errors	ENST00000375252	ensembl	human	known	74_37	missense	37.93	40.95	SNP	0.363	T	22	36
COL18A1	80781	genome.wustl.edu	37	21	46876414	46876414	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:46876414G>A	ENST00000359759.4	+	1	991	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	324					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGCCCTGCTCGGGGCTGACCC	0.667													ENSG00000182871																																					0													38.0	42.0	41.0					21																	46876414		692	1591	2283	SO:0001583	missense	0			-		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.970G>A	21.37:g.46876414G>A	ENSP00000352798:p.Gly324Arg		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G324R	ENST00000359759.4	37	c.970		21	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004744	0.35320	.	.	ENSG00000182871	ENST00000359759;ENST00000539645	D	0.90069	-2.61	4.65	-1.14	0.09741	.	1.640020	0.04396	N	0.363248	T	0.78710	0.4326	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.61088	-0.7133	9	0.33141	T	0.24	.	2.0211	0.03509	0.1518:0.1233:0.3467:0.3782	.	324	P39060	COIA1_HUMAN	R	324	ENSP00000352798:G324R	ENSP00000352798:G324R	G	+	1	0	COL18A1	45700842	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.525000	0.06214	-0.116000	0.11893	-0.195000	0.12781	GGG	-	COL18A1	-	NULL		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	0	0	0	38	38	38	0.00	0.00	G			46876414	+1	9	5	27	28	tier1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	24.32	15.15	SNP	0.000	A	9	27
TMEM184B	25829	genome.wustl.edu	37	22	38620870	38620870	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38620870C>T	ENST00000361906.3	-	8	1112	c.904G>A	c.(904-906)Gag>Aag	p.E302K	TMEM184B_ENST00000361684.4_Missense_Mutation_p.E302K|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	302						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AAGAACATCTCCACACAGATG	0.622													ENSG00000198792																																					0													66.0	53.0	57.0					22																	38620870		2203	4300	6503	SO:0001583	missense	0			-	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.904G>A	22.37:g.38620870C>T	ENSP00000355210:p.Glu302Lys		A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	pfam_Ost-alpha	p.E302K	ENST00000361906.3	37	c.904	CCDS13969.2	22	.	.	.	.	.	.	.	.	.	.	C	35	5.447270	0.96205	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.74106	-0.81;-0.81	5.82	5.82	0.92795	.	0.047712	0.85682	D	0.000000	D	0.91740	0.7388	H	0.98048	4.135	0.80722	D	1	P	0.43314	0.803	P	0.59948	0.866	D	0.93549	0.6885	10	0.87932	D	0	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	302	Q9Y519	T184B_HUMAN	K	302	ENSP00000355210:E302K;ENSP00000354441:E302K	ENSP00000354441:E302K	E	-	1	0	TMEM184B	36950816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.042000	0.70996	2.756000	0.94617	0.561000	0.74099	GAG	-	TMEM184B	-	pfam_Ost-alpha		0.622	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	HGNC	protein_coding	OTTHUMT00000075445.4	0	0	0	40	40	47	0.00	0.00	C	NM_012264		38620870	-1	12	6	20	19	tier1	no_errors	ENST00000361684	ensembl	human	known	74_37	missense	37.50	24.00	SNP	1.000	T	12	20
UNC80	285175	genome.wustl.edu	37	2	210800462	210800462	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:210800462G>A	ENST00000439458.1	+	39	6085	c.6005G>A	c.(6004-6006)gGa>gAa	p.G2002E	UNC80_ENST00000272845.6_Missense_Mutation_p.G1997E	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2002					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GTAGTTCATGGACAGAATGAG	0.313													ENSG00000144406																																					0													106.0	89.0	94.0					2																	210800462		692	1591	2283	SO:0001583	missense	0			-	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.6005G>A	2.37:g.210800462G>A	ENSP00000391088:p.Gly2002Glu		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.G2002E	ENST00000439458.1	37	c.6005	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.101696	0.94245	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.43688	0.94;0.94	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64643	-0.6359	10	0.87932	D	0	-18.0966	20.5632	0.99335	0.0:0.0:1.0:0.0	.	2002	Q8N2C7	UNC80_HUMAN	E	2002;1997	ENSP00000391088:G2002E;ENSP00000272845:G1997E	ENSP00000272845:G1997E	G	+	2	0	UNC80	210508707	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.752000	0.98900	2.937000	0.99478	0.650000	0.86243	GGA	-	UNC80	-	NULL		0.313	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		0	0	0	115	115	165	0.00	0.00	G	NM_182587		210800462	+1	46	51	51	71	tier1	no_errors	ENST00000439458	ensembl	human	known	74_37	missense	47.42	41.80	SNP	1.000	A	46	51
NACA	4666	genome.wustl.edu	37	12	57108172	57108172	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:57108172T>A	ENST00000454682.1	-	5	6078	c.5797A>T	c.(5797-5799)Agt>Tgt	p.S1933C	NACA_ENST00000393891.4_Missense_Mutation_p.S70C|NACA_ENST00000546392.1_Missense_Mutation_p.S70C|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000550952.1_Missense_Mutation_p.S780C|NACA_ENST00000356769.3_Missense_Mutation_p.S70C|NACA_ENST00000552540.1_Missense_Mutation_p.S70C|NACA_ENST00000548563.1_5'UTR	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1933	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.|Required for DNA-binding. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCACTCCGACTCTGTTTTGCT	0.388			T	BCL6	NHL								ENSG00000196531																												Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													137.0	121.0	127.0					12																	57108172		2203	4299	6502	SO:0001583	missense	0			-	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5797A>T	12.37:g.57108172T>A	ENSP00000403817:p.Ser1933Cys			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.S1933C	ENST00000454682.1	37	c.5797		12	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614662	0.87359	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.69806	0.24;-0.17;-0.43;0.21;0.21;0.21;0.21;0.21;0.16;0.21	4.73	4.73	0.59995	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	D	0.86297	0.5899	H	0.95294	3.65	0.58432	D	0.999999	D;D;P	0.89917	0.999;1.0;0.948	D;D;P	0.83275	0.99;0.996;0.514	D	0.90092	0.4178	10	0.87932	D	0	.	13.1877	0.59691	0.0:0.0:0.0:1.0	.	1933;780;70	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	C	68;1933;780;70;70;70;70;70;66;70	ENSP00000448039:S68C;ENSP00000403817:S1933C;ENSP00000448035:S780C;ENSP00000349212:S70C;ENSP00000447821:S70C;ENSP00000377469:S70C;ENSP00000446801:S70C;ENSP00000447133:S70C;ENSP00000450383:S66C;ENSP00000447764:S70C	ENSP00000349212:S70C	S	-	1	0	NACA	55394439	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.972000	0.88022	1.758000	0.51981	0.377000	0.23210	AGT	-	CA	-	pfscan_Nas_poly-pep-assoc_cplx_dom		0.388	NACA-201	KNOWN	basic	protein_coding	CA	HGNC	protein_coding		0	0	0	107	107	59	0.00	0.00	T	NM_005594		57108172	-1	25	8	44	37	tier1	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	35.71	17.78	SNP	1.000	A	25	44
EPB41	2035	genome.wustl.edu	37	1	29422974	29422974	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:29422974C>T	ENST00000343067.4	+	17	2311				EPB41_ENST00000373798.1_Intron|EPB41_ENST00000347529.3_Intron|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000373800.3_Intron|EPB41_ENST00000356093.2_Intron|EPB41_ENST00000460378.1_3'UTR|EPB41_ENST00000349460.4_Intron	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACACCAGCTTCCTGTCAGCTG	0.463													ENSG00000159023																																					0																																										SO:0001627	intron_variant	0			-	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.2185-1345C>T	1.37:g.29422974C>T			B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	R	SNP	-	NULL	ENST00000343067.4	37	NULL	CCDS53288.1	1																																																																																			-	EPB41	-	-		0.463	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	0	0	0	48	48	99	0.00	0.00	C	NM_203342		29422974	+1	33	51	43	48	tier1	no_errors	ENST00000460378	ensembl	human	known	74_37	rna	43.42	51.52	SNP	1.000	T	33	43
UBE2L6	9246	genome.wustl.edu	37	11	57327819	57327819	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:57327819G>A	ENST00000287156.4	-	2	309	c.114C>T	c.(112-114)ctC>ctT	p.L38L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	38					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						CGGGTAGGAGGAGAGCGTGCC	0.572													ENSG00000156587																																					0													203.0	168.0	180.0					11																	57327819		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.114C>T	11.37:g.57327819G>A			A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L38	ENST00000287156.4	37	c.114	CCDS7960.1	11																																																																																			-	UBE2L6	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.572	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	HGNC	protein_coding	OTTHUMT00000392657.1	0	0	0	44	44	122	0.00	0.00	G	NM_004223		57327819	-1	13	48	27	42	tier1	no_errors	ENST00000287156	ensembl	human	known	74_37	silent	32.50	53.33	SNP	0.988	A	13	27
DSEL	92126	genome.wustl.edu	37	18	65181527	65181527	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:65181527G>T	ENST00000310045.7	-	2	1822	c.349C>A	c.(349-351)Cca>Aca	p.P117T	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	107					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGCTTTGGTGGAGGTAGGTAG	0.418													ENSG00000171451																																					0													119.0	103.0	109.0					18																	65181527		2203	4300	6503	SO:0001583	missense	0			-	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.349C>A	18.37:g.65181527G>T	ENSP00000310565:p.Pro117Thr		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.P117T	ENST00000310045.7	37	c.349	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862870	0.91511	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24350	1.86	4.79	4.79	0.61399	.	0.000000	0.85682	U	0.000000	T	0.53254	0.1785	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.58707	-0.7589	10	0.72032	D	0.01	-10.1721	18.2267	0.89920	0.0:0.0:1.0:0.0	.	107	Q8IZU8	DSEL_HUMAN	T	117;107	ENSP00000310565:P117T	ENSP00000310565:P117T	P	-	1	0	DSEL	63332507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.568000	0.98166	2.391000	0.81399	0.561000	0.74099	CCA	-	DSEL	-	superfamily_Chondroitin_lyas		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	0	0	0	47	47	132	0.00	0.00	G	NM_032160		65181527	-1	13	53	11	44	tier1	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	54.17	54.64	SNP	1.000	T	13	11
AUTS2	26053	genome.wustl.edu	37	7	69755362	69755362	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:69755362G>A	ENST00000342771.4	+	5	981				AUTS2_ENST00000406775.2_Intron|AUTS2_ENST00000403018.2_Silent_p.G223G	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGAGATCAGGGAAGATGTGCC	0.368													ENSG00000158321																																					0													150.0	120.0	129.0					7																	69755362		692	1591	2283	SO:0001627	intron_variant	0			-	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.661-145376G>A	7.37:g.69755362G>A			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	NULL	p.G223	ENST00000342771.4	37	c.669	CCDS5539.1	7																																																																																			-	AUTS2	-	NULL		0.368	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	0	0	0	88	88	83	0.00	0.00	G			69755362	+1	17	11	25	40	tier1	no_errors	ENST00000403018	ensembl	human	known	74_37	silent	40.48	21.57	SNP	0.000	A	17	25
PAXIP1	22976	genome.wustl.edu	37	7	154774975	154774975	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:154774975G>A	ENST00000404141.1	-	5	546	c.392C>T	c.(391-393)aCc>aTc	p.T131I	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.T131I			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	131	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CTTATTGAGGGTTAGCTGGCA	0.428													ENSG00000157212																																					0													57.0	56.0	57.0					7																	154774975		1886	4114	6000	SO:0001583	missense	0			-	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.392C>T	7.37:g.154774975G>A	ENSP00000384048:p.Thr131Ile		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.T131I	ENST00000404141.1	37	c.392	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375149	0.24857	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	D;D;D	0.83335	-1.71;-1.71;-1.71	5.05	-10.1	0.00402	BRCT (3);	0.550424	0.16323	N	0.219466	T	0.76278	0.3965	L	0.48642	1.525	0.09310	N	1	B;B;B;D	0.55172	0.0;0.001;0.0;0.97	B;B;B;P	0.58780	0.002;0.001;0.001;0.845	T	0.68146	-0.5486	10	0.30078	T	0.28	-0.0345	2.1749	0.03859	0.1341:0.249:0.2787:0.3382	.	84;40;97;131	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	I	131;131;79;84;89	ENSP00000384048:T131I;ENSP00000380376:T131I;ENSP00000389849:T89I	ENSP00000319149:T84I	T	-	2	0	PAXIP1	154405908	0.006000	0.16342	0.000000	0.03702	0.060000	0.15804	-0.838000	0.04372	-3.091000	0.00247	-0.992000	0.02543	ACC	-	PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.428	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	0	0	1	134	134	154	0.00	0.65	G	NM_007349		154774975	-1	31	19	62	68	tier1	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	33.33	21.84	SNP	0.000	A	31	62
DBR1	51163	genome.wustl.edu	37	3	137882228	137882228	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:137882228G>A	ENST00000260803.4	-	7	1057	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	DBR1_ENST00000505015.2_Silent_p.L68L	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	302					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATATTCCACAGGCGCCCAGTC	0.413													ENSG00000138231																																					0													103.0	97.0	99.0					3																	137882228		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.904C>T	3.37:g.137882228G>A			Q96GH0|Q9NXQ6	Silent	SNP	pfam_DBR1_C,pfam_PEstase_dom	p.L302	ENST00000260803.4	37	c.904	CCDS33863.1	3																																																																																			-	DBR1	-	pfam_DBR1_C		0.413	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBR1	HGNC	protein_coding	OTTHUMT00000357585.1	0	0	1	106	106	104	0.00	0.95	G			137882228	-1	49	32	86	49	tier1	no_errors	ENST00000260803	ensembl	human	known	74_37	silent	36.30	39.51	SNP	0.000	A	49	86
CELSR2	1952	genome.wustl.edu	37	1	109812124	109812124	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109812124C>T	ENST00000271332.3	+	21	6952	c.6891C>T	c.(6889-6891)gcC>gcT	p.A2297A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2297					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCCCCGGGCCCTGGACAAAC	0.597													ENSG00000143126																									NSCLC(158;1285 2011 34800 34852 42084)												0													70.0	65.0	67.0					1																	109812124		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6891C>T	1.37:g.109812124C>T			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.A2297	ENST00000271332.3	37	c.6891	CCDS796.1	1																																																																																			-	CELSR2	-	NULL		0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	0	0	0	45	45	43	0.00	0.00	C	NM_001408		109812124	+1	9	9	25	37	tier1	no_errors	ENST00000271332	ensembl	human	known	74_37	silent	26.47	19.57	SNP	0.396	T	9	25
OR4C46	119749	genome.wustl.edu	37	11	51515496	51515496	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:51515496C>T	ENST00000328188.1	+	1	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						GCCTGCTATTCCTCTGTCAAT	0.473													ENSG00000185926																																					0													226.0	211.0	216.0					11																	51515496		2201	4296	6497	SO:0001583	missense	0			-		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.215C>T	11.37:g.51515496C>T	ENSP00000329056:p.Ser72Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S72F	ENST00000328188.1	37	c.215	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	9.787	1.176763	0.21704	.	.	ENSG00000185926	ENST00000328188	T	0.00840	5.63	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.167551	0.28641	N	0.014632	T	0.08044	0.0201	H	0.96518	3.835	0.20074	N	0.999935	D	0.65815	0.995	D	0.70227	0.968	T	0.03910	-1.0993	10	0.87932	D	0	.	11.1303	0.48343	0.0:1.0:0.0:0.0	.	72	A6NHA9	O4C46_HUMAN	F	72	ENSP00000329056:S72F	ENSP00000329056:S72F	S	+	2	0	OR4C46	51372072	0.205000	0.23458	0.056000	0.19401	0.021000	0.10359	3.222000	0.51223	1.513000	0.48852	0.134000	0.15878	TCC	-	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	0	0	0	64	64	65	0.00	0.00	C	NM_001004703		51515496	+1	32	36	12	13	tier1	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	72.73	73.47	SNP	0.401	T	32	12
SNTG2	54221	genome.wustl.edu	37	2	1371201	1371201	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:1371201C>T	ENST00000308624.5	+	17	1704	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	SNTG2_ENST00000407292.1_Silent_p.F398F	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	525					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACCCCGGCTTCATGGACAGTC	0.468													ENSG00000172554																																					0													41.0	41.0	41.0					2																	1371201		692	1591	2283	SO:0001819	synonymous_variant	0			-	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1575C>T	2.37:g.1371201C>T			Q05AH5	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F525	ENST00000308624.5	37	c.1575	CCDS46220.1	2																																																																																			-	SNTG2	-	NULL		0.468	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	0	0	0	50	50	58	0.00	0.00	C	NM_018968		1371201	+1	9	17	22	27	tier1	no_errors	ENST00000308624	ensembl	human	known	74_37	silent	29.03	38.64	SNP	0.071	T	9	22
IGSF10	285313	genome.wustl.edu	37	3	151171541	151171541	+	Missense_Mutation	SNP	T	T	G	rs370577610		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:151171541T>G	ENST00000282466.3	-	3	345	c.346A>C	c.(346-348)Aaa>Caa	p.K116Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	116					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCGGACTTTATTATAGCTC	0.323													ENSG00000152580																																					0													73.0	81.0	78.0					3																	151171541		2148	4286	6434	SO:0001583	missense	0			-	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.346A>C	3.37:g.151171541T>G	ENSP00000282466:p.Lys116Gln		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K116Q	ENST00000282466.3	37	c.346	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544004	0.86022	.	.	ENSG00000152580	ENST00000282466	T	0.58358	0.34	5.53	5.53	0.82687	.	0.000000	0.50627	D	0.000105	T	0.62380	0.2423	L	0.28458	0.855	0.45366	D	0.998359	D	0.89917	1.0	D	0.80764	0.994	T	0.66642	-0.5872	10	0.87932	D	0	.	15.6808	0.77367	0.0:0.0:0.0:1.0	.	116	Q6WRI0	IGS10_HUMAN	Q	116	ENSP00000282466:K116Q	ENSP00000282466:K116Q	K	-	1	0	IGSF10	152654231	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.759000	0.62227	2.104000	0.64026	0.528000	0.53228	AAA	-	IGSF10	-	smart_Leu-rich_rpt_typical-subtyp		0.323	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	0	0	0	120	120	117	0.00	0.00	T	NM_178822		151171541	-1	37	51	83	72	tier1	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	30.83	41.46	SNP	1.000	G	37	83
TNR	7143	genome.wustl.edu	37	1	175362936	175362936	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:175362936C>T	ENST00000367674.2	-	6	2044	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_ENST00000263525.2_Missense_Mutation_p.E446K			Q92752	TENR_HUMAN	tenascin R	446	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGCTGATTTCCCACCCATCG	0.473													ENSG00000116147																																					0													228.0	224.0	225.0					1																	175362936		2203	4300	6503	SO:0001583	missense	0			-	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1336G>A	1.37:g.175362936C>T	ENSP00000356646:p.Glu446Lys		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.E446K	ENST00000367674.2	37	c.1336	CCDS1318.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.124462|5.124462	0.94429|0.94429	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.58358|.	0.34;0.34|.	4.51|4.51	4.51|4.51	0.55191|0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59088|0.59088	0.2168|0.2168	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.56257|0.56257	-0.8009|-0.8009	10|5	0.06365|.	T|.	0.9|.	.|.	17.1817|17.1817	0.86857|0.86857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446|.	Q92752|.	TENR_HUMAN|.	K|E	446|170	ENSP00000356646:E446K;ENSP00000263525:E446K|.	ENSP00000263525:E446K|.	E|G	-|-	1|2	0|0	TNR|TNR	173629559|173629559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.338000|7.338000	0.79269|0.79269	2.202000|2.202000	0.70862|0.70862	0.643000|0.643000	0.83706|0.83706	GAA|GGA	-	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	0	0	0	117	117	124	0.00	0.00	C	NM_003285		175362936	-1	13	22	52	74	tier1	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	20.00	22.92	SNP	1.000	T	13	52
KCNT2	343450	genome.wustl.edu	37	1	196300354	196300354	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:196300354C>T	ENST00000294725.9	-	18	2950	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R	KCNT2_ENST00000609185.1_Missense_Mutation_p.G629R|KCNT2_ENST00000367431.4_Missense_Mutation_p.G629R|KCNT2_ENST00000451324.2_Missense_Mutation_p.G290R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.G679R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	679					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGTGAACTTCCTATATATGGA	0.328													ENSG00000162687																																					0													154.0	169.0	164.0					1																	196300354		2203	4294	6497	SO:0001583	missense	0			-	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2035G>A	1.37:g.196300354C>T	ENSP00000294725:p.Gly679Arg		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.G679R	ENST00000294725.9	37	c.2035	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957880	0.92726	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	D	0.96324	0.8801	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D	0.89917	0.987;1.0;1.0;1.0;0.987	D;D;D;D;D	0.97110	0.972;1.0;1.0;1.0;0.972	D	0.96489	0.9362	10	0.62326	D	0.03	-22.352	19.0484	0.93032	0.0:1.0:0.0:0.0	.	679;661;679;629;679	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	R	679;629;500;290;679	ENSP00000356403:G679R;ENSP00000356401:G629R;ENSP00000405474:G290R;ENSP00000294725:G679R	ENSP00000294725:G679R	G	-	1	0	KCNT2	194566977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.745000	0.94114	0.484000	0.47621	GGA	-	KCNT2	-	NULL		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	0	0	0	121	121	93	0.00	0.00	C	NM_198503		196300354	-1	43	36	64	45	tier1	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	40.19	44.44	SNP	1.000	T	43	64
ZNF584	201514	genome.wustl.edu	37	19	58927188	58927188	+	Intron	SNP	C	C	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:58927188C>G	ENST00000306910.4	+	3	815				ZNF584_ENST00000596921.1_Intron|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000599238.1_Silent_p.A62A|ZNF584_ENST00000322834.7_Missense_Mutation_p.P91A	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ATTTTCAGGCCCCGCATGTTC	0.517													ENSG00000171574																																					0													78.0	71.0	73.0					19																	58927188		876	1991	2867	SO:0001627	intron_variant	0			-	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.292+175C>G	19.37:g.58927188C>G			A8K203	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.P91A	ENST00000306910.4	37	c.271	CCDS12979.1	19	.	.	.	.	.	.	.	.	.	.	C	5.849	0.340806	0.11069	.	.	ENSG00000171574	ENST00000322834	T	0.01152	5.26	2.45	-4.66	0.03329	.	.	.	.	.	T	0.00468	0.0015	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.17979	0.02	T	0.43925	-0.9361	8	0.02654	T	1	.	3.5284	0.07768	0.3028:0.2169:0.0:0.4803	.	91	F6W0P0	.	A	91	ENSP00000320731:P91A	ENSP00000320731:P91A	P	+	1	0	ZNF584	63619000	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.901000	0.04093	-1.133000	0.02903	-0.658000	0.03865	CCC	-	ZNF584	-	NULL		0.517	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF584	HGNC	protein_coding	OTTHUMT00000467022.1	0	0	1	79	79	114	0.00	0.87	C	NM_173548		58927188	+1	40	47	49	41	tier1	no_errors	ENST00000322834	ensembl	human	putative	74_37	missense	44.94	53.41	SNP	0.000	G	40	49
AC114776.3	0	genome.wustl.edu	37	2	111469926	111469926	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:111469926C>T	ENST00000414159.2	-	0	1620																											CCCTCTTCTCCCACCCCGGAA	0.582													ENSG00000235881																																					0													150.0	143.0	145.0					2																	111469926		692	1591	2283			0			-																													2.37:g.111469926C>T				R	SNP	-	NULL	ENST00000414159.2	37	NULL		2																																																																																			-	AC114776.3	-	-		0.582	AC114776.3-001	KNOWN	basic	lincRNA	ENSG00000235881	Clone_based_vega_gene	lincRNA	OTTHUMT00000331943.2	0	0	0	63	63	130	0.00	0.00	C			111469926	-1	16	18	54	68	tier1	no_errors	ENST00000414159	ensembl	human	known	74_37	rna	22.86	20.93	SNP	0.006	T	16	54
OCM2	4951	genome.wustl.edu	37	7	97617774	97617774	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:97617774A>G	ENST00000257627.4	-	2	239	c.148T>C	c.(148-150)Ttc>Ctc	p.F50L	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	50	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TTGTCTATGAACCGGAAAACA	0.517													ENSG00000135175																																					0													173.0	147.0	156.0					7																	97617774		2203	4300	6503	SO:0001583	missense	0			-	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.148T>C	7.37:g.97617774A>G	ENSP00000257627:p.Phe50Leu		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.F50L	ENST00000257627.4	37	c.148	CCDS5653.1	7	.	.	.	.	.	.	.	.	.	.	a	14.17	2.456750	0.43634	.	.	ENSG00000135175	ENST00000257627	T	0.68025	-0.3	3.98	3.98	0.46160	EF-hand-like domain (1);	0.118597	0.56097	D	0.000030	T	0.34019	0.0883	N	0.01482	-0.84	0.26956	N	0.965921	B	0.14438	0.01	B	0.09377	0.004	T	0.16012	-1.0417	10	0.62326	D	0.03	-14.0609	4.7439	0.13028	0.6183:0.1943:0.0:0.1874	.	50	P0CE71	OCM2_HUMAN	L	50	ENSP00000257627:F50L	ENSP00000257627:F50L	F	-	1	0	OCM2	97455710	0.943000	0.32029	1.000000	0.80357	0.992000	0.81027	0.294000	0.19047	1.685000	0.51034	0.386000	0.25728	TTC	-	OCM2	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.517	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCM2	HGNC	protein_coding	OTTHUMT00000334188.1	0	0	0	126	126	100	0.00	0.00	A	NM_006188		97617774	-1	24	35	73	47	tier1	no_errors	ENST00000257627	ensembl	human	known	74_37	missense	24.74	42.68	SNP	1.000	G	24	73
DNAJB13	374407	genome.wustl.edu	37	11	73676073	73676073	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:73676073C>T	ENST00000339764.1	+	4	1236	c.485C>T	c.(484-486)tCc>tTc	p.S162F	DNAJB13_ENST00000543947.1_5'Flank|RP11-167N4.2_ENST00000540886.1_RNA|DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	162					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					ATTAAGATCTCCAGAAGGGTG	0.572											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000187726																																					0													50.0	53.0	52.0					11																	73676073		2200	4293	6493	SO:0001583	missense	0			-	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.485C>T	11.37:g.73676073C>T	ENSP00000344431:p.Ser162Phe	1147	B3LEP4|Q8IZW5	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.S162F	ENST00000339764.1	37	c.485	CCDS8227.1	11	.	.	.	.	.	.	.	.	.	.	c	22.5	4.297229	0.81025	.	.	ENSG00000187726	ENST00000339764	D	0.84223	-1.82	5.14	5.14	0.70334	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	H	0.97896	4.1	0.80722	D	1	D	0.61080	0.989	P	0.46850	0.529	D	0.95378	0.8470	10	0.87932	D	0	.	17.2203	0.86955	0.0:1.0:0.0:0.0	.	162	P59910	DJB13_HUMAN	F	162	ENSP00000344431:S162F	ENSP00000344431:S162F	S	+	2	0	DNAJB13	73353721	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.230000	0.78097	2.417000	0.82017	0.449000	0.29647	TCC	-	DJB13	-	superfamily_HSP40/DnaJ_pept-bd		0.572	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DJB13	HGNC	protein_coding	OTTHUMT00000398100.1	0	0	0	68	68	80	0.00	0.00	C	NM_153614		73676073	+1	25	25	43	54	tier1	no_errors	ENST00000339764	ensembl	human	known	74_37	missense	36.76	31.65	SNP	1.000	T	25	43
PRR26	414235	genome.wustl.edu	37	10	697091	697091	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:697091G>A	ENST00000441152.2	+	3	747	c.584G>A	c.(583-585)gGg>gAg	p.G195E	DIP2C_ENST00000280886.6_Intron|PRR26_ENST00000381489.5_Intron			Q8N8Z3	PRR26_HUMAN	proline rich 26	195																	GGGCCTCAGGGGCACCTCCAC	0.627													ENSG00000180525																																					0																																										SO:0001583	missense	0			-	AK096000		10p15.3	2012-12-03	2012-12-03	2012-12-03	ENSG00000180525	ENSG00000180525			30724	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 108"""	C10orf108			Standard	NR_027151		Approved	FLJ38681	uc001ifr.3	Q8N8Z3	OTTHUMG00000017529	ENST00000441152.2:c.584G>A	10.37:g.697091G>A	ENSP00000414034:p.Gly195Glu			Missense_Mutation	SNP	NULL	p.G195E	ENST00000441152.2	37	c.584		10	.	.	.	.	.	.	.	.	.	.	g	8.303	0.820430	0.16678	.	.	ENSG00000180525	ENST00000441152	.	.	.	1.64	-2.02	0.07388	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40079	-0.9582	5	0.87932	D	0	.	2.4423	0.04498	0.2121:0.0:0.3245:0.4634	.	.	.	.	E	195	.	ENSP00000414034:G195E	G	+	2	0	C10orf108	687091	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.193000	0.09573	-0.434000	0.07275	0.297000	0.19635	GGG	-	PRR26	-	NULL		0.627	PRR26-002	KNOWN	basic|appris_principal	protein_coding	PRR26	HGNC	protein_coding	OTTHUMT00000046386.1	0	0	0	11	11	39	0.00	0.00	G			697091	+1	9	17	12	21	tier1	no_errors	ENST00000441152	ensembl	human	known	74_37	missense	42.86	44.74	SNP	0.000	A	9	12
RNMT	8731	genome.wustl.edu	37	18	13734511	13734511	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:13734511C>T	ENST00000383314.2	+	4	706	c.466C>T	c.(466-468)Ctt>Ttt	p.L156F	RNMT_ENST00000543302.2_Missense_Mutation_p.L156F|RNMT_ENST00000262173.3_Missense_Mutation_p.L156F|RNMT_ENST00000592764.1_Missense_Mutation_p.L156F|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000589866.1_Missense_Mutation_p.L156F			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	156	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TTACAATGAACTTCAGGAAGT	0.348													ENSG00000101654																									GBM(29;474 594 19092 36647 41529)												0													121.0	121.0	121.0					18																	13734511		2203	4300	6503	SO:0001583	missense	0			-	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.466C>T	18.37:g.13734511C>T	ENSP00000372804:p.Leu156Phe		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mR_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mR_G-N7_MeTrfase	p.L156F	ENST00000383314.2	37	c.466	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578701	0.86645	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.9	5.9	0.94986	.	0.181070	0.49916	D	0.000135	T	0.78123	0.4234	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.982;0.989	T	0.70828	-0.4766	9	0.10636	T	0.68	-32.0439	20.2822	0.98520	0.0:1.0:0.0:0.0	.	156;156	O43148-2;O43148	.;MCES_HUMAN	F	156	.	ENSP00000262173:L156F	L	+	1	0	RNMT	13724511	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.176000	0.58269	2.806000	0.96561	0.655000	0.94253	CTT	-	RNMT	-	pfam_mR_G-N7_MeTrfase_dom,pirsf_mR_G-N7_MeTrfase		0.348	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	0	0	0	119	119	99	0.00	0.00	C	NM_003799		13734511	+1	53	50	33	38	tier1	no_errors	ENST00000262173	ensembl	human	known	74_37	missense	61.63	56.82	SNP	1.000	T	53	33
LGALS12	85329	genome.wustl.edu	37	11	63277347	63277347	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:63277347C>T	ENST00000394618.3	+	4	827	c.536C>T	c.(535-537)gCt>gTt	p.A179V	LGALS12_ENST00000255684.5_Missense_Mutation_p.A179V|LGALS12_ENST00000415491.2_Missense_Mutation_p.A118V|LGALS12_ENST00000425950.2_Missense_Mutation_p.A118V|LGALS12_ENST00000340246.5_Missense_Mutation_p.A180V	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	179	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGGTAGAGGCTGTTGGATTC	0.552													ENSG00000133317																																					0													137.0	115.0	122.0					11																	63277347		2201	4298	6499	SO:0001583	missense	0			-	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.536C>T	11.37:g.63277347C>T	ENSP00000378116:p.Ala179Val		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.A180V	ENST00000394618.3	37	c.539	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466933	0.63625	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4	5.41	4.5	0.54988	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.110783	0.39834	N	0.001242	T	0.17450	0.0419	M	0.75615	2.305	0.32554	N	0.53199	P;P;B;P	0.52692	0.955;0.944;0.168;0.955	P;P;B;P	0.54889	0.763;0.651;0.074;0.763	T	0.14504	-1.0470	10	0.45353	T	0.12	-16.7553	11.7875	0.52051	0.0:0.9146:0.0:0.0854	.	139;180;179;179	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	V	179;179;180;118;118	ENSP00000255684:A179V;ENSP00000378116:A179V;ENSP00000339374:A180V;ENSP00000394659:A118V;ENSP00000399093:A118V	ENSP00000255684:A179V	A	+	2	0	LGALS12	63033923	0.942000	0.31987	0.111000	0.21465	0.749000	0.42624	2.064000	0.41432	1.279000	0.44446	0.511000	0.50034	GCT	-	LGALS12	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.552	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	0	0	0	78	78	103	0.00	0.00	C	NM_033101		63277347	+1	39	31	28	29	tier1	no_errors	ENST00000340246	ensembl	human	known	74_37	missense	58.21	51.67	SNP	0.615	T	39	28
CCDC163P	126661	genome.wustl.edu	37	1	45960756	45960756	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:45960756G>A	ENST00000432082.1	-	5	777	c.413C>T	c.(412-414)tCc>tTc	p.S138F	CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_3'UTR					coiled-coil domain containing 163, pseudogene											cervix(1)|endometrium(1)	2						GGCCCCAAAGGAATAGGTCCT	0.512													ENSG00000236624																																					0													120.0	112.0	115.0					1																	45960756		1874	4095	5969	SO:0001583	missense	0			-	BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624			27003	pseudogene	pseudogene			"""chromosome 1 open reading frame 231"""	C1orf231		18672041	Standard	NR_033296		Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.413C>T	1.37:g.45960756G>A	ENSP00000435596:p.Ser138Phe			Missense_Mutation	SNP	NULL	p.S138F	ENST00000432082.1	37	c.413		1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277838	0.23307	.	.	ENSG00000236624	ENST00000432082	.	.	.	4.51	3.59	0.41128	.	.	.	.	.	T	0.43875	0.1267	.	.	.	0.21499	N	0.999662	D	0.54207	0.965	P	0.54312	0.748	T	0.17961	-1.0352	7	0.18276	T	0.48	.	10.7335	0.46111	0.0:0.1921:0.8079:0.0	.	138	F2Z3K3	.	F	138	.	ENSP00000435596:S138F	S	-	2	0	CCDC163P	45733343	0.363000	0.24989	0.082000	0.20525	0.017000	0.09413	1.476000	0.35420	1.484000	0.48361	-0.233000	0.12211	TCC	-	CCDC163P	-	NULL		0.512	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	CCDC163P	HGNC	protein_coding	OTTHUMT00000349850.4	0	0	0	63	63	152	0.00	0.00	G	NM_001102601		45960756	-1	43	89	40	71	tier1	no_errors	ENST00000432082	ensembl	human	putative	74_37	missense	51.81	55.62	SNP	0.104	A	43	40
AP3B2	8120	genome.wustl.edu	37	15	83328344	83328344	+	Missense_Mutation	SNP	C	C	T	rs201769141		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:83328344C>T	ENST00000261722.3	-	26	3424	c.3217G>A	c.(3217-3219)Gta>Ata	p.V1073I	AP3B2_ENST00000535348.1_Missense_Mutation_p.V1041I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.V1092I	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1073					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACATCCTTTACCAGCATGGTG	0.552													ENSG00000103723																																					0													99.0	95.0	96.0					15																	83328344		2057	4198	6255	SO:0001583	missense	0			-	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3217G>A	15.37:g.83328344C>T	ENSP00000261722:p.Val1073Ile		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.V1073I	ENST00000261722.3	37	c.3217	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590417	0.66219	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.56776	0.44;0.44;0.44	5.09	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.62723	1.935	0.80722	D	1	D;B;B	0.63880	0.993;0.131;0.131	P;B;B	0.59825	0.864;0.058;0.058	T	0.70641	-0.4816	10	0.62326	D	0.03	-19.9498	15.7835	0.78281	0.0:0.8632:0.1368:0.0	.	1041;1092;1073	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	1073;1041;1092	ENSP00000261722:V1073I;ENSP00000438721:V1041I;ENSP00000440984:V1092I	ENSP00000261722:V1073I	V	-	1	0	AP3B2	81125399	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.702000	0.68332	1.254000	0.44035	0.462000	0.41574	GTA	rs201769141	AP3B2	-	pirsf_AP3_beta		0.552	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	0	0	0	31	31	103	0.00	0.00	C			83328344	-1	8	14	30	43	tier1	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	21.05	24.56	SNP	1.000	T	8	30
TECTA	7007	genome.wustl.edu	37	11	121030984	121030984	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:121030984C>T	ENST00000392793.1	+	15	5101	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I	TECTA_ENST00000264037.2_Silent_p.I1610I			O75443	TECTA_HUMAN	tectorin alpha	1610	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAATCAGCATCAGCGAGAGGC	0.488													ENSG00000109927																																					0													116.0	113.0	114.0					11																	121030984		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4830C>T	11.37:g.121030984C>T				Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.I1610	ENST00000392793.1	37	c.4830	CCDS8434.1	11																																																																																			-	TECTA	-	pfam_VWF_type-D,smart_VWF_type-D		0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	0	0	0	67	67	79	0.00	0.00	C	NM_005422		121030984	+1	8	5	44	38	tier1	no_errors	ENST00000264037	ensembl	human	known	74_37	silent	15.38	11.63	SNP	1.000	T	8	44
CSMD2	114784	genome.wustl.edu	37	1	34102131	34102131	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34102131C>T	ENST00000373380.1	-	9	1637	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	CSMD2_ENST00000373381.4_Missense_Mutation_p.D1600N|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1560	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAACCAGGATCAAAACATGAC	0.562													ENSG00000121904																																					0													60.0	55.0	57.0					1																	34102131		2203	4300	6503	SO:0001583	missense	0			-	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1417G>A	1.37:g.34102131C>T	ENSP00000362478:p.Asp473Asn		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D1600N	ENST00000373380.1	37	c.4798		1	.	.	.	.	.	.	.	.	.	.	C	36	5.713353	0.96830	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65549	-0.16;-0.16	5.86	5.86	0.93980	Complement control module (2);Sushi/SCR/CCP (3);	0.055452	0.64402	D	0.000001	T	0.75539	0.3863	L	0.49571	1.57	0.80722	D	1	B;D;D	0.67145	0.384;0.996;0.988	B;D;D	0.70016	0.301;0.967;0.948	T	0.74506	-0.3643	10	0.52906	T	0.07	.	19.1595	0.93525	0.0:1.0:0.0:0.0	.	473;1560;1600	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	N	1600;473	ENSP00000362479:D1600N;ENSP00000362478:D473N	ENSP00000241312:D1560N	D	-	1	0	CSMD2	33874718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.747000	0.85070	2.776000	0.95493	0.491000	0.48974	GAT	-	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.562	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	0	0	0	102	102	120	0.00	0.00	C	NM_052896		34102131	-1	54	74	51	53	tier1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	51.43	58.27	SNP	1.000	T	54	51
NCAPD2	9918	genome.wustl.edu	37	12	6636085	6636085	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:6636085C>T	ENST00000315579.5	+	22	3562	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	NCAPD2_ENST00000545962.1_Silent_p.F876F|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	921					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCCCACTTTCCTGTTGATGA	0.572													ENSG00000010292																																					0													73.0	77.0	76.0					12																	6636085		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2763C>T	12.37:g.6636085C>T			D3DUR4|Q8N6U3	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.F921	ENST00000315579.5	37	c.2763	CCDS8548.1	12																																																																																			-	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1		0.572	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	0	0	0	30	30	38	0.00	0.00	C	NM_014865		6636085	+1	10	7	25	30	tier1	no_errors	ENST00000315579	ensembl	human	known	74_37	silent	28.57	18.92	SNP	0.791	T	10	25
CPN2	1370	genome.wustl.edu	37	3	194062012	194062012	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:194062012C>T	ENST00000323830.3	-	2	1509	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	CPN2_ENST00000429275.1_Missense_Mutation_p.E474K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	474					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTGCCCTTTCCTGCACAGCC	0.667													ENSG00000178772																																					0													55.0	58.0	57.0					3																	194062012		2203	4300	6503	SO:0001583	missense	0			-	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1420G>A	3.37:g.194062012C>T	ENSP00000319464:p.Glu474Lys		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E474K	ENST00000323830.3	37	c.1420	CCDS33920.1	3	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824553	0.16678	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.51817	0.69;0.69	5.56	4.69	0.59074	.	0.624357	0.13272	N	0.400478	T	0.34337	0.0894	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.16305	-1.0407	10	0.22706	T	0.39	.	12.5925	0.56451	0.0:0.9224:0.0:0.0776	.	474	P22792	CPN2_HUMAN	K	474	ENSP00000319464:E474K;ENSP00000402232:E474K	ENSP00000319464:E474K	E	-	1	0	CPN2	195543707	0.002000	0.14202	0.004000	0.12327	0.024000	0.10985	1.561000	0.36342	1.491000	0.48482	0.655000	0.94253	GAA	-	CPN2	-	NULL		0.667	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN2	HGNC	protein_coding	OTTHUMT00000342856.2	0	0	0	40	40	33	0.00	0.00	C	NM_001080513		194062012	-1	18	10	29	23	tier1	no_errors	ENST00000323830	ensembl	human	known	74_37	missense	38.30	30.30	SNP	0.083	T	18	29
BAIAP3	8938	genome.wustl.edu	37	16	1390933	1390933	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:1390933C>T	ENST00000324385.5	+	6	682	c.524C>T	c.(523-525)aCc>aTc	p.T175I	BAIAP3_ENST00000426824.3_Missense_Mutation_p.T140I|BAIAP3_ENST00000397488.2_Missense_Mutation_p.T157I|BAIAP3_ENST00000421665.2_Missense_Mutation_p.T140I|BAIAP3_ENST00000562208.1_Missense_Mutation_p.T117I|BAIAP3_ENST00000397489.1_Missense_Mutation_p.T157I|BAIAP3_ENST00000568887.1_Missense_Mutation_p.T112I	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	175					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTGTTTGGCACCAGCCTTGAG	0.672													ENSG00000007516																																					0													41.0	33.0	36.0					16																	1390933		2171	4273	6444	SO:0001583	missense	0			-	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.524C>T	16.37:g.1390933C>T	ENSP00000324510:p.Thr175Ile		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T175I	ENST00000324385.5	37	c.524	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	C	3.502	-0.101646	0.06967	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.70631	-0.47;-0.5;-0.48;-0.5;-0.47	4.74	1.09	0.20402	C2 calcium/lipid-binding domain, CaLB (1);	0.413688	0.24481	N	0.038157	T	0.54759	0.1878	L	0.47716	1.5	0.09310	N	0.999991	B;B;B;B;B	0.16166	0.0;0.016;0.0;0.001;0.0	B;B;B;B;B	0.12156	0.002;0.007;0.001;0.001;0.002	T	0.30794	-0.9966	10	0.23302	T	0.38	-33.063	4.304	0.10938	0.1794:0.5757:0.0:0.2449	.	140;192;117;175;157	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	I	140;157;175;157;140	ENSP00000407242:T140I;ENSP00000380625:T157I;ENSP00000324510:T175I;ENSP00000380626:T157I;ENSP00000409533:T140I	ENSP00000324510:T175I	T	+	2	0	BAIAP3	1330934	0.516000	0.26218	0.040000	0.18447	0.005000	0.04900	0.237000	0.17985	0.513000	0.28278	-0.518000	0.04402	ACC	-	BAIAP3	-	superfamily_C2_dom		0.672	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	0	0	0	63	63	33	0.00	0.00	C			1390933	+1	28	4	57	22	tier1	no_errors	ENST00000324385	ensembl	human	known	74_37	missense	32.94	15.38	SNP	0.333	T	28	57
FAM3D	131177	genome.wustl.edu	37	3	58622108	58622108	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:58622108C>T	ENST00000358781.2	-	9	808	c.498G>A	c.(496-498)ggG>ggA	p.G166G	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	166					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CGTAGGAACTCCCCAAGTCAG	0.567													ENSG00000198643																																					0													92.0	92.0	92.0					3																	58622108		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.498G>A	3.37:g.58622108C>T			Q547G2	Silent	SNP	NULL	p.G166	ENST00000358781.2	37	c.498	CCDS2893.1	3																																																																																			-	FAM3D	-	NULL		0.567	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	HGNC	protein_coding	OTTHUMT00000353494.1	0	0	0	75	75	111	0.00	0.00	C	NM_138805		58622108	-1	18	31	71	66	tier1	no_errors	ENST00000358781	ensembl	human	known	74_37	silent	20.22	31.63	SNP	0.918	T	18	71
MYO18B	84700	genome.wustl.edu	37	22	26164851	26164851	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:26164851G>A	ENST00000407587.2	+	4	1137	c.968G>A	c.(967-969)gGa>gAa	p.G323E	MYO18B_ENST00000536101.1_Missense_Mutation_p.G323E|MYO18B_ENST00000335473.7_Missense_Mutation_p.G323E			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	323						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGTTTCCTGGGAAGAAGGAGT	0.527													ENSG00000133454																																					0													29.0	30.0	30.0					22																	26164851		1959	4149	6108	SO:0001583	missense	0			-	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.968G>A	22.37:g.26164851G>A	ENSP00000386096:p.Gly323Glu		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tR-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G323E	ENST00000407587.2	37	c.968		22	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941290	0.34283	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89343	-2.48;-2.48;-2.5	4.98	2.85	0.33270	.	0.471231	0.16207	N	0.224629	T	0.80215	0.4582	L	0.32530	0.975	0.09310	N	1	B;B;B	0.32829	0.267;0.386;0.386	B;B;B	0.31101	0.058;0.124;0.124	T	0.71407	-0.4602	10	0.72032	D	0.01	.	4.5306	0.12002	0.0838:0.153:0.605:0.1582	.	323;323;323	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	E	323	ENSP00000441229:G323E;ENSP00000334563:G323E;ENSP00000386096:G323E	ENSP00000334563:G323E	G	+	2	0	MYO18B	24494851	0.098000	0.21812	0.092000	0.20876	0.161000	0.22273	0.362000	0.20284	0.494000	0.27859	0.486000	0.48141	GGA	-	MYO18B	-	NULL		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	0	0	0	129	129	182	0.00	0.00	G	NM_032608		26164851	+1	27	52	79	89	tier1	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	25.47	36.88	SNP	0.013	A	27	79
PLCB4	5332	genome.wustl.edu	37	20	9417703	9417703	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:9417703G>A	ENST00000378493.1	+	26	2647	c.2632G>A	c.(2632-2634)Gcc>Acc	p.A878T	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A890T|PLCB4_ENST00000378501.2_Missense_Mutation_p.A878T|PLCB4_ENST00000278655.4_Missense_Mutation_p.A878T|PLCB4_ENST00000334005.3_Missense_Mutation_p.A878T|PLCB4_ENST00000414679.2_Missense_Mutation_p.A890T			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	878					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAAGGAAAGGCCAACACCGC	0.507													ENSG00000101333																																					0													91.0	79.0	83.0					20																	9417703		2203	4300	6503	SO:0001583	missense	0			-		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2632G>A	20.37:g.9417703G>A	ENSP00000367754:p.Ala878Thr		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A878T	ENST00000378493.1	37	c.2632	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480166	0.44044	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61627	2.15;2.16;0.09;0.09;2.15;1.97	6.07	6.07	0.98685	.	0.165132	0.56097	D	0.000035	T	0.36853	0.0982	N	0.08118	0	0.42544	D	0.993081	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.0;0.0;0.001	T	0.23904	-1.0175	10	0.21540	T	0.41	.	13.7909	0.63140	0.0695:0.0:0.9305:0.0	.	890;725;878;878	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	T	878;890;878;878;878;726	ENSP00000334105:A878T;ENSP00000367734:A890T;ENSP00000278655:A878T;ENSP00000367754:A878T;ENSP00000367762:A878T;ENSP00000390616:A726T	ENSP00000278655:A878T	A	+	1	0	PLCB4	9365703	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.009000	0.57110	2.884000	0.98904	0.655000	0.94253	GCC	-	PLCB4	-	pirsf_PLC-beta		0.507	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	0	0	1	95	95	148	0.00	0.67	G			9417703	+1	42	48	77	105	tier1	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	35.29	31.37	SNP	1.000	A	42	77
JPH1	56704	genome.wustl.edu	37	8	75227588	75227588	+	Missense_Mutation	SNP	G	G	A	rs563245256		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:75227588G>A	ENST00000342232.4	-	2	687	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	216					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TCCAAGAAGGGAGCCCCTCCG	0.622													ENSG00000104369																																					0													59.0	65.0	63.0					8																	75227588		2203	4300	6503	SO:0001583	missense	0			-	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.647C>T	8.37:g.75227588G>A	ENSP00000344488:p.Ser216Phe		B2RTZ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.S216F	ENST00000342232.4	37	c.647	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468242	0.63625	.	.	ENSG00000104369	ENST00000342232	T	0.61040	0.14	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79990	-0.1570	10	0.62326	D	0.03	.	18.2573	0.90023	0.0:0.0:1.0:0.0	.	216	Q9HDC5	JPH1_HUMAN	F	216	ENSP00000344488:S216F	ENSP00000344488:S216F	S	-	2	0	JPH1	75390143	1.000000	0.71417	0.952000	0.39060	0.315000	0.28087	9.587000	0.98229	2.519000	0.84933	0.655000	0.94253	TCC	-	JPH1	-	pirsf_Junctophilin		0.622	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	0	0	0	10	10	42	0.00	0.00	G			75227588	-1	6	5	8	23	tier1	no_errors	ENST00000342232	ensembl	human	known	74_37	missense	42.86	17.86	SNP	1.000	A	6	8
DDX11	1663	genome.wustl.edu	37	12	31236933	31236933	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:31236933C>T	ENST00000407793.2	+	3	582	c.331C>T	c.(331-333)Ccg>Tcg	p.P111S	DDX11_ENST00000350437.4_Missense_Mutation_p.P111S|DDX11_ENST00000542838.1_Missense_Mutation_p.P111S|DDX11_ENST00000228264.6_Missense_Mutation_p.P85S|DDX11_ENST00000545668.1_Missense_Mutation_p.P111S|DDX11_ENST00000251758.5_Missense_Mutation_p.P111S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	111	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCTGGAGAACCGGCCTGGGT	0.557										Multiple Myeloma(12;0.14)			ENSG00000013573																																					0													52.0	65.0	61.0					12																	31236933		2203	4296	6499	SO:0001583	missense	0			-	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.331C>T	12.37:g.31236933C>T	ENSP00000384703:p.Pro111Ser		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_D_helicase_D-repair_Rad3	p.P111S	ENST00000407793.2	37	c.331	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153112	0.57259	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T;T	0.59364	3.91;3.91;3.91;3.91;0.27;3.91;3.91;3.91;3.91	4.57	4.57	0.56435	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.116233	0.64402	D	0.000013	T	0.74596	0.3737	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.982;0.974;0.985;0.99	T	0.77027	-0.2740	10	0.54805	T	0.06	.	14.9443	0.71016	0.0:1.0:0.0:0.0	.	111;111;111;111	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	S	111;111;111;85;111;85;111;111;147	ENSP00000443426:P111S;ENSP00000384703:P111S;ENSP00000251758:P111S;ENSP00000228264:P85S;ENSP00000407646:P111S;ENSP00000406457:P85S;ENSP00000440402:P111S;ENSP00000309965:P111S;ENSP00000440171:P147S	ENSP00000228264:P85S	P	+	1	0	DDX11	31128200	1.000000	0.71417	0.821000	0.32701	0.086000	0.17979	6.428000	0.73383	2.377000	0.81083	0.505000	0.49811	CCG	-	DDX11	-	superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.557	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	0	0	0	197	197	50	0.00	0.00	C	NM_030653		31236933	+1	78	17	113	12	tier1	no_errors	ENST00000407793	ensembl	human	known	74_37	missense	40.84	58.62	SNP	1.000	T	78	113
SULT1C3	442038	genome.wustl.edu	37	2	108881355	108881355	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:108881355C>T	ENST00000329106.2	+	6	696	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	232					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TGAATAAAATCATCTATCACA	0.413													ENSG00000196228																																					0													124.0	113.0	117.0					2																	108881355		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.696C>T	2.37:g.108881355C>T			Q6IMI5	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.I232	ENST00000329106.2	37	c.696	CCDS33267.1	2																																																																																			-	SULT1C3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.413	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT1C3	HGNC	protein_coding	OTTHUMT00000330255.1	0	0	0	76	76	152	0.00	0.00	C	NM_001008743		108881355	+1	12	17	52	82	tier1	no_errors	ENST00000329106	ensembl	human	known	74_37	silent	18.75	17.17	SNP	0.445	T	12	52
GPR98	84059	genome.wustl.edu	37	5	89936619	89936619	+	Intron	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:89936619T>A	ENST00000405460.2	+	12	2336					NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGCCTCCTTTTTCCCCTTCC	0.388													ENSG00000164199																																					0																																										SO:0001627	intron_variant	0			-	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2241-1834T>A	5.37:g.89936619T>A			O75171|Q8TF58|Q9H0X5|Q9UL61	R	SNP	-	NULL	ENST00000405460.2	37	NULL	CCDS47246.1	5																																																																																			-	GPR98	-	-		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	0	0	0	89	89	137	0.00	0.00	T	NM_032119		89936619	+1	27	35	25	25	tier1	no_errors	ENST00000512205	ensembl	human	known	74_37	rna	51.92	58.33	SNP	0.002	A	27	25
CCDC93	54520	genome.wustl.edu	37	2	118715984	118715984	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:118715984G>A	ENST00000376300.2	-	12	1099	c.962C>T	c.(961-963)tCc>tTc	p.S321F	CCDC93_ENST00000319432.5_Missense_Mutation_p.S320F|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	321										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTTGTTCAAGGAAATGACTTT	0.408													ENSG00000125633																																					0													129.0	111.0	117.0					2																	118715984		2203	4300	6503	SO:0001583	missense	0			-	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.962C>T	2.37:g.118715984G>A	ENSP00000365477:p.Ser321Phe		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.S321F	ENST00000376300.2	37	c.962	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768871	0.31320	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19669	2.13;2.13	5.33	5.33	0.75918	.	0.060889	0.64402	D	0.000002	T	0.40694	0.1127	M	0.68952	2.095	0.41639	D	0.989065	D	0.63046	0.992	P	0.59357	0.856	T	0.17289	-1.0374	10	0.66056	D	0.02	-4.8946	14.4662	0.67485	0.0:0.0:1.0:0.0	.	321	Q567U6	CCD93_HUMAN	F	321;320	ENSP00000365477:S321F;ENSP00000324135:S320F	ENSP00000324135:S320F	S	-	2	0	CCDC93	118432454	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	5.843000	0.69424	2.789000	0.95967	0.558000	0.71614	TCC	-	CCDC93	-	NULL		0.408	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	0	0	0	107	107	148	0.00	0.00	G	NM_019044		118715984	-1	26	14	42	82	tier1	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	38.24	14.58	SNP	1.000	A	26	42
GLCCI1	113263	genome.wustl.edu	37	7	8125883	8125883	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:8125883C>T	ENST00000223145.5	+	8	1916	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	453						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGGTTAATTTCATCCCAACCG	0.433													ENSG00000106415																																					0													152.0	169.0	163.0					7																	8125883		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1359C>T	7.37:g.8125883C>T			A4D103|Q96FD0	Silent	SNP	NULL	p.F453	ENST00000223145.5	37	c.1359	CCDS34601.1	7																																																																																			-	GLCCI1	-	NULL		0.433	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	HGNC	protein_coding	OTTHUMT00000324672.1	0	0	0	21	21	103	0.00	0.00	C	NM_138426		8125883	+1	21	44	14	56	tier1	no_errors	ENST00000223145	ensembl	human	known	74_37	silent	60.00	43.56	SNP	1.000	T	21	14
UGT2A3	79799	genome.wustl.edu	37	4	69811118	69811118	+	Missense_Mutation	SNP	C	C	T	rs148723888	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:69811118C>T	ENST00000251566.4	-	2	800	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	257					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAATATGTTCGTATTAGCCA	0.373													ENSG00000135220																																					0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	98.0	101.0		770	1.4	0.0	4	dbSNP_134	101	5,8595	4.3+/-15.6	0,5,4295	yes	missense	UGT2A3	NM_024743.3	43	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	possibly-damaging	257/528	69811118	6,13000	2203	4300	6503	SO:0001583	missense	0			-		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.770G>A	4.37:g.69811118C>T	ENSP00000251566:p.Arg257Gln		Q9H6S4	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R257Q	ENST00000251566.4	37	c.770	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258084	0.39896	2.27E-4	5.81E-4	ENSG00000135220	ENST00000251566	T	0.62105	0.05	3.23	1.4	0.22301	.	0.118593	0.53938	N	0.000056	T	0.54515	0.1863	M	0.79011	2.435	0.80722	D	1	P	0.43431	0.807	B	0.36289	0.221	T	0.52881	-0.8516	10	0.59425	D	0.04	.	6.0403	0.19730	0.0:0.6883:0.1939:0.1178	.	257	Q6UWM9	UD2A3_HUMAN	Q	257	ENSP00000251566:R257Q	ENSP00000251566:R257Q	R	-	2	0	UGT2A3	69845707	0.990000	0.36364	0.005000	0.12908	0.627000	0.37826	3.340000	0.52143	0.179000	0.19938	-0.350000	0.07774	CGA	rs148723888	UGT2A3	-	pfam_UDP_glucos_trans		0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1	0	0	0	56	56	110	0.00	0.00	C	NM_024743		69811118	-1	39	52	12	50	tier1	no_errors	ENST00000251566	ensembl	human	known	74_37	missense	76.47	50.98	SNP	0.899	T	39	12
ADH4	127	genome.wustl.edu	37	4	100063861	100063861	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:100063861G>A	ENST00000265512.7	-	2	163	c.89C>T	c.(88-90)gCt>gTt	p.A30V	ADH4_ENST00000505590.1_Missense_Mutation_p.A49V|ADH4_ENST00000508393.1_Missense_Mutation_p.A49V|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Missense_Mutation_p.A49V|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	30					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CTTGGGGGGAGCTACTTCAAC	0.517													ENSG00000198099																																					0													71.0	62.0	65.0					4																	100063861		2203	4300	6503	SO:0001583	missense	0			-	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.89C>T	4.37:g.100063861G>A	ENSP00000265512:p.Ala30Val		A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.A49V	ENST00000265512.7	37	c.146	CCDS34032.1	4	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332426	0.60853	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.03689	3.84;3.84;3.84;3.84;3.84;3.84	4.16	1.19	0.21007	GroES-like (1);	0.077393	0.49916	D	0.000129	T	0.07413	0.0187	M	0.88241	2.94	0.58432	D	0.999998	P;P	0.46457	0.876;0.878	B;B	0.39419	0.288;0.299	T	0.14559	-1.0468	10	0.87932	D	0	0.8535	8.2254	0.31566	0.079:0.0:0.6489:0.2721	.	49;30	P08319-2;P08319	.;ADH4_HUMAN	V	49;30;49;49;49;30	ENSP00000424630:A49V;ENSP00000265512:A30V;ENSP00000397939:A49V;ENSP00000425416:A49V;ENSP00000423571:A49V;ENSP00000427525:A30V	ENSP00000265512:A30V	A	-	2	0	ADH4	100282884	0.985000	0.35326	0.982000	0.44146	0.991000	0.79684	3.238000	0.51352	0.499000	0.27970	0.655000	0.94253	GCT	-	ADH4	-	superfamily_GroES-like,smart_PKS_ER		0.517	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH4	HGNC	protein_coding	OTTHUMT00000364220.2	0	0	0	80	80	73	0.00	0.00	G	NM_000670		100063861	-1	24	37	19	22	tier1	no_errors	ENST00000423445	ensembl	human	known	74_37	missense	55.81	62.71	SNP	0.999	A	24	19
DCAF4L2	138009	genome.wustl.edu	37	8	88885861	88885861	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:88885861C>T	ENST00000319675.3	-	1	435	c.339G>A	c.(337-339)cgG>cgA	p.R113R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	113										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCGGGTATACCCGGAGCTCAG	0.542													ENSG00000176566																																					0													133.0	129.0	130.0					8																	88885861		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.339G>A	8.37:g.88885861C>T				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R113	ENST00000319675.3	37	c.339	CCDS6245.1	8																																																																																			-	DCAF4L2	-	superfamily_WD40_repeat_dom		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	0	0	0	36	36	129	0.00	0.00	C	NM_152418		88885861	-1	8	50	18	66	tier1	no_errors	ENST00000319675	ensembl	human	known	74_37	silent	30.77	43.10	SNP	0.165	T	8	18
VWA3A	146177	genome.wustl.edu	37	16	22149817	22149817	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:22149817C>T	ENST00000389398.5	+	22	2372	c.2276C>T	c.(2275-2277)cCc>cTc	p.P759L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	759						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCACCGTCCCCCTGGGGGCC	0.522													ENSG00000175267																																					0													44.0	49.0	47.0					16																	22149817		1907	4121	6028	SO:0001583	missense	0			-	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2276C>T	16.37:g.22149817C>T	ENSP00000374049:p.Pro759Leu		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P759L	ENST00000389398.5	37	c.2276	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.279178	0.00254	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.09723	2.95	5.18	0.335	0.15953	.	0.291697	0.33023	N	0.005362	T	0.04588	0.0125	L	0.32530	0.975	0.25906	N	0.983299	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.39035	-0.9633	10	0.02654	T	1	.	0.4795	0.00545	0.188:0.342:0.1842:0.2858	.	759;383	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	L	759;382	ENSP00000374049:P759L	ENSP00000299840:P382L	P	+	2	0	VWA3A	22057318	0.006000	0.16342	0.039000	0.18376	0.001000	0.01503	1.056000	0.30480	0.280000	0.22209	-0.310000	0.09108	CCC	-	VWA3A	-	NULL		0.522	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	0	0	0	128	128	121	0.00	0.00	C			22149817	+1	63	35	77	63	tier1	no_errors	ENST00000389398	ensembl	human	known	74_37	missense	44.68	35.71	SNP	0.262	T	63	77
OR5D18	219438	genome.wustl.edu	37	11	55587118	55587118	+	Missense_Mutation	SNP	G	G	A	rs549739521		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:55587118G>A	ENST00000333976.4	+	1	33	c.13G>A	c.(13-15)Gat>Aat	p.D5N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCTGCTGACTGATAGAAATAC	0.413													ENSG00000186119																																					0													83.0	78.0	80.0					11																	55587118		2200	4296	6496	SO:0001583	missense	0			-	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.13G>A	11.37:g.55587118G>A	ENSP00000335025:p.Asp5Asn		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D5N	ENST00000333976.4	37	c.13	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	g	11.50	1.656629	0.29425	.	.	ENSG00000186119	ENST00000333976	T	0.00301	8.21	4.65	1.64	0.23874	.	2.024200	0.02747	N	0.116995	T	0.00109	0.0003	N	0.03930	-0.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26643	-1.0097	10	0.37606	T	0.19	8.3754	4.3618	0.11206	0.2765:0.1675:0.556:0.0	.	5	Q8NGL1	OR5DI_HUMAN	N	5	ENSP00000335025:D5N	ENSP00000335025:D5N	D	+	1	0	OR5D18	55343694	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.903000	0.04084	0.281000	0.22233	0.632000	0.83419	GAT	-	OR5D18	-	NULL		0.413	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	0	0	0	17	17	82	0.00	0.00	G	NM_001001952		55587118	+1	5	7	18	60	tier1	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	21.74	10.45	SNP	0.000	A	5	18
PLCB1	23236	genome.wustl.edu	37	20	8689384	8689384	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:8689384A>C	ENST00000338037.6	+	12	1262	c.1235A>C	c.(1234-1236)gAg>gCg	p.E412A	PLCB1_ENST00000378637.2_Missense_Mutation_p.E412A|PLCB1_ENST00000378641.3_Missense_Mutation_p.E412A	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	412	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTTCGTTTGAGAACCATGTG	0.353													ENSG00000182621																																					0													134.0	111.0	119.0					20																	8689384		2203	4300	6503	SO:0001583	missense	0			-	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1235A>C	20.37:g.8689384A>C	ENSP00000338185:p.Glu412Ala		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E412A	ENST00000338037.6	37	c.1235	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555040	0.86231	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.63913	-0.07;-0.07;-0.07	5.2	5.2	0.72013	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.099612	0.64402	D	0.000002	D	0.87807	0.6270	H	0.99286	4.5	0.80722	D	1	D;P	0.69078	0.997;0.837	D;B	0.77004	0.989;0.221	D	0.92874	0.6317	10	0.87932	D	0	.	15.2329	0.73404	1.0:0.0:0.0:0.0	.	412;412	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	A	412;412;412;332;332	ENSP00000367908:E412A;ENSP00000338185:E412A;ENSP00000367904:E412A	ENSP00000338185:E412A	E	+	2	0	PLCB1	8637384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.002000	0.93572	2.180000	0.69256	0.533000	0.62120	GAG	-	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.353	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	0	0	0	102	102	126	0.00	0.00	A			8689384	+1	49	70	71	117	tier1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	40.83	37.43	SNP	1.000	C	49	71
FLJ33360	401172	genome.wustl.edu	37	5	6337372	6337372	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:6337372C>T	ENST00000507444.1	-	0	33					NR_028351.1																						CACTTACGGCCCCCAGCAGAG	0.542													ENSG00000250490																																					0													55.0	42.0	46.0					5																	6337372		692	1591	2283			0			-																													5.37:g.6337372C>T				R	SNP	-	NULL	ENST00000507444.1	37	NULL		5																																																																																			-	CTD-2324F15.2	-	-		0.542	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	FLJ33360	Clone_based_vega_gene	lincRNA	OTTHUMT00000365707.1	0	0	0	18	18	71	0.00	0.00	C			6337372	-1	7	13	22	35	tier1	no_errors	ENST00000502644	ensembl	human	known	74_37	rna	24.14	27.08	SNP	0.018	T	7	22
BAIAP2L2	80115	genome.wustl.edu	37	22	38481697	38481697	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38481697G>A	ENST00000381669.3	-	13	1654	c.1510C>T	c.(1510-1512)Ccg>Tcg	p.P504S	SLC16A8_ENST00000469516.1_5'Flank|SLC16A8_ENST00000320521.5_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	504					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					ACTCACCTCGGGAAGAGCTCC	0.622													ENSG00000128298																																					0													132.0	142.0	138.0					22																	38481697		1959	4144	6103	SO:0001583	missense	0			-	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1510C>T	22.37:g.38481697G>A	ENSP00000371085:p.Pro504Ser		B0QYE2|Q96BG7	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P504S	ENST00000381669.3	37	c.1510	CCDS43018.1	22	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410638	0.25465	.	.	ENSG00000128298	ENST00000381669;ENST00000402500	.	.	.	3.77	3.77	0.43336	.	0.128963	0.52532	D	0.000061	T	0.57710	0.2072	L	0.55834	1.745	0.80722	D	1	P	0.52577	0.954	P	0.47673	0.554	T	0.62895	-0.6757	9	0.54805	T	0.06	.	12.6721	0.56872	0.0:0.0:1.0:0.0	.	504	Q6UXY1	BI2L2_HUMAN	S	504;490	.	ENSP00000371085:P504S	P	-	1	0	BAIAP2L2	36811643	0.998000	0.40836	0.996000	0.52242	0.619000	0.37552	1.617000	0.36943	1.823000	0.53134	0.491000	0.48974	CCG	-	BAIAP2L2	-	NULL		0.622	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	HGNC	protein_coding	OTTHUMT00000321727.1	0	0	0	30	30	50	0.00	0.00	G	NM_025045		38481697	-1	14	22	28	29	tier1	no_errors	ENST00000381669	ensembl	human	known	74_37	missense	33.33	43.14	SNP	1.000	A	14	28
ECI1	1632	genome.wustl.edu	37	16	2296868	2296868	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:2296868G>A	ENST00000301729.4	-	3	333	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	ECI1_ENST00000562238.1_Silent_p.L96L|ECI1_ENST00000570258.1_Silent_p.L37L	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	96					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)	p.L96L(1)		endometrium(1)|large_intestine(2)|lung(6)	9						ACCGAGGTCAGAATGACACCG	0.572													ENSG00000167969																																					1	Substitution - coding silent(1)	lung(1)											81.0	77.0	78.0					16																	2296868		2198	4300	6498	SO:0001819	synonymous_variant	0			-		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.286C>T	16.37:g.2296868G>A			A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP	pfam_Crotonase_core_superfam	p.L96	ENST00000301729.4	37	c.286	CCDS10464.1	16																																																																																			-	ECI1	-	pfam_Crotonase_core_superfam		0.572	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECI1	HGNC	protein_coding	OTTHUMT00000250768.1	0	0	0	125	125	65	0.00	0.00	G			2296868	-1	25	15	73	41	tier1	no_errors	ENST00000301729	ensembl	human	known	74_37	silent	25.51	26.79	SNP	0.002	A	25	73
COL17A1	1308	genome.wustl.edu	37	10	105799254	105799254	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:105799254G>A	ENST00000353479.5	-	43	3135	c.2845C>T	c.(2845-2847)Ctt>Ttt	p.L949F	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	949	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTCCCTGAAGGTTGAGTCCG	0.612													ENSG00000065618																																					0													82.0	85.0	84.0					10																	105799254		2203	4300	6503	SO:0001583	missense	0			-	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2845C>T	10.37:g.105799254G>A	ENSP00000340937:p.Leu949Phe		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.L949F	ENST00000353479.5	37	c.2845	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447382	0.25987	.	.	ENSG00000065618	ENST00000353479	D	0.91521	-2.86	4.97	4.04	0.47022	.	0.000000	0.30959	N	0.008539	D	0.87521	0.6198	L	0.43646	1.37	0.40047	D	0.975728	P	0.44877	0.845	B	0.44278	0.445	D	0.86677	0.1914	10	0.52906	T	0.07	-1.0822	10.4796	0.44684	0.0:0.0:0.8055:0.1945	.	949	Q9UMD9	COHA1_HUMAN	F	949	ENSP00000340937:L949F	ENSP00000340937:L949F	L	-	1	0	COL17A1	105789244	0.723000	0.28027	0.661000	0.29709	0.977000	0.68977	1.405000	0.34635	1.051000	0.40369	0.491000	0.48974	CTT	-	COL17A1	-	NULL		0.612	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	0	0	0	74	74	99	0.00	0.00	G	NM_130778, NM_000494		105799254	-1	29	29	20	13	tier1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	59.18	69.05	SNP	0.437	A	29	20
C1orf94	84970	genome.wustl.edu	37	1	34684344	34684344	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:34684344G>A	ENST00000488417.1	+	7	1899	c.1779G>A	c.(1777-1779)ggG>ggA	p.G593G	C1orf94_ENST00000373374.3_Silent_p.G403G	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	593										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTTCCAGTGGGAATGGCATAA	0.502													ENSG00000142698																																					0													135.0	130.0	131.0					1																	34684344		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1779G>A	1.37:g.34684344G>A			B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	NULL	p.G593	ENST00000488417.1	37	c.1779	CCDS44108.1	1																																																																																			-	C1orf94	-	NULL		0.502	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	0	0	0	95	95	123	0.00	0.00	G	NM_032884		34684344	+1	10	14	78	92	tier1	no_errors	ENST00000488417	ensembl	human	known	74_37	silent	11.36	13.21	SNP	1.000	A	10	78
PCSK1	5122	genome.wustl.edu	37	5	95757591	95757591	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:95757591C>T	ENST00000311106.3	-	5	850	c.613G>A	c.(613-615)Gag>Aag	p.E205K	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.E158K	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	205	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.E205*(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACTTGTTCTCGTTTGTGGGA	0.338													ENSG00000175426																																					1	Substitution - Nonsense(1)	lung(1)											151.0	150.0	150.0					5																	95757591		2203	4300	6503	SO:0001583	missense	0			-		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.613G>A	5.37:g.95757591C>T	ENSP00000308024:p.Glu205Lys		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E205K	ENST00000311106.3	37	c.613	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.415446	0.96092	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.87412	-2.25;-2.25	5.82	5.82	0.92795	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	L	0.42245	1.32	0.80722	D	1	P	0.51933	0.949	B	0.42555	0.391	D	0.86371	0.1723	10	0.56958	D	0.05	-25.3147	19.6917	0.96005	0.0:1.0:0.0:0.0	.	205	P29120	NEC1_HUMAN	K	205;158	ENSP00000308024:E205K;ENSP00000421600:E158K	ENSP00000308024:E205K	E	-	1	0	PCSK1	95783347	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.252000	0.78309	2.751000	0.94390	0.650000	0.86243	GAG	-	PCSK1	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel		0.338	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1	0	0	0	119	119	92	0.00	0.00	C	NM_000439		95757591	-1	21	26	29	18	tier1	no_errors	ENST00000311106	ensembl	human	known	74_37	missense	42.00	59.09	SNP	1.000	T	21	29
FAF1	11124	genome.wustl.edu	37	1	50941264	50941264	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:50941264G>A	ENST00000396153.2	-	18	2192	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	FAF1_ENST00000545823.1_Missense_Mutation_p.P339S|FAF1_ENST00000371778.4_Missense_Mutation_p.P581S	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	581	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCGCCACTGGGGGTCCGGATC	0.537													ENSG00000185104																																					0													56.0	59.0	58.0					1																	50941264		2203	4300	6503	SO:0001583	missense	0			-	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1741C>T	1.37:g.50941264G>A	ENSP00000379457:p.Pro581Ser		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.P581S	ENST00000396153.2	37	c.1741	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036089	0.93630	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.51	5.51	0.81932	UBX (3);	0.000000	0.85682	D	0.000000	D	0.85470	0.5704	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87706	0.2563	9	0.72032	D	0.01	-17.0453	19.4205	0.94720	0.0:0.0:1.0:0.0	.	339;581	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	S	581;581;339;421;429	.	ENSP00000360843:P581S	P	-	1	0	FAF1	50713852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.399000	0.97285	2.575000	0.86900	0.655000	0.94253	CCC	-	FAF1	-	pfam_UBX,smart_UBX,pfscan_UBX		0.537	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	0	0	0	39	39	102	0.00	0.00	G	NM_007051		50941264	-1	16	14	34	67	tier1	no_errors	ENST00000371778	ensembl	human	known	74_37	missense	32.00	17.28	SNP	1.000	A	16	34
SLC8A1	6546	genome.wustl.edu	37	2	40405534	40405534	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:40405534C>T	ENST00000403092.1	-	3	1941	c.1908G>A	c.(1906-1908)gaG>gaA	p.E636E	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.E636E|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000542756.1_Silent_p.E636E|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.E636E|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000593878.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	636					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACCTTTCTTCTCACTCATCT	0.512													ENSG00000183023																																					0													146.0	152.0	150.0					2																	40405534		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1908G>A	2.37:g.40405534C>T			A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.E636	ENST00000403092.1	37	c.1908	CCDS1806.1	2																																																																																			-	SLC8A1	-	tigrfam_Na_Ca_Ex		0.512	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	0	0	0	40	40	64	0.00	0.00	C	NM_021097		40405534	-1	23	22	21	33	tier1	no_errors	ENST00000332839	ensembl	human	known	74_37	silent	52.27	40.00	SNP	1.000	T	23	21
PTER	9317	genome.wustl.edu	37	10	16553079	16553079	+	Nonsense_Mutation	SNP	C	C	T	rs143073635		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:16553079C>T	ENST00000378000.1	+	6	1120	c.874C>T	c.(874-876)Cga>Tga	p.R292*	PTER_ENST00000423462.2_Nonsense_Mutation_p.R245*|PTER_ENST00000298942.3_Nonsense_Mutation_p.R292*|PTER_ENST00000535784.2_Nonsense_Mutation_p.R292*	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	292					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTGTGAAGATCGAATTCTGGT	0.408													ENSG00000165983																									Ovarian(2;46 150 15648 38137 47908)												0								C	stop/ARG,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	111.0	100.0	103.0		874,874	4.9	1.0	10	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	PTER	NM_001001484.1,NM_030664.3	,	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	,	292/350,292/350	16553079	2,13002	2202	4300	6502	SO:0001587	stop_gained	0			-	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.874C>T	10.37:g.16553079C>T	ENSP00000367239:p.Arg292*		B0YJ77|B3KTF5|D3DRU0|Q9BY46	Nonsense_Mutation	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.R292*	ENST00000378000.1	37	c.874	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784921	0.90282	2.27E-4	1.16E-4	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	.	.	.	5.86	4.93	0.64822	.	0.216429	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2337	13.9438	0.64071	0.3106:0.6894:0.0:0.0	.	.	.	.	X	292;292;245;292;292	.	ENSP00000298942:R292X	R	+	1	2	PTER	16593085	1.000000	0.71417	0.998000	0.56505	0.725000	0.41563	2.433000	0.44793	2.787000	0.95880	0.603000	0.83216	CGA	rs143073635	PTER	-	pfam_Aryldialkylphosphatase		0.408	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	0	0	0	75	75	89	0.00	0.00	C	NM_030664		16553079	+1	30	48	76	79	tier1	no_errors	ENST00000298942	ensembl	human	known	74_37	nonsense	28.30	37.80	SNP	0.995	T	30	76
CMYA5	202333	genome.wustl.edu	37	5	79031081	79031081	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:79031081G>A	ENST00000446378.2	+	2	6524	c.6493G>A	c.(6493-6495)Gac>Aac	p.D2165N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2165					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGCTAAGCCGGACCTTCCTGA	0.458													ENSG00000164309																																					0													68.0	66.0	67.0					5																	79031081		1875	4114	5989	SO:0001583	missense	0			-	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6493G>A	5.37:g.79031081G>A	ENSP00000394770:p.Asp2165Asn		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.D2165N	ENST00000446378.2	37	c.6493	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496582	0.44352	.	.	ENSG00000164309	ENST00000446378	T	0.16743	2.32	6.16	-3.74	0.04385	.	2.178270	0.01684	N	0.026317	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	1	B	0.27068	0.167	B	0.19148	0.024	T	0.15492	-1.0435	10	0.48119	T	0.1	.	1.3611	0.02191	0.389:0.1032:0.2968:0.2109	.	2165	Q8N3K9	CMYA5_HUMAN	N	2165	ENSP00000394770:D2165N	ENSP00000394770:D2165N	D	+	1	0	CMYA5	79066837	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	0.159000	0.16442	-0.839000	0.04212	0.650000	0.86243	GAC	-	CMYA5	-	NULL		0.458	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	0	0	0	59	59	150	0.00	0.00	G	NM_153610		79031081	+1	15	28	21	54	tier1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	41.67	33.73	SNP	0.000	A	15	21
CD163L1	283316	genome.wustl.edu	37	12	7528586	7528586	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:7528586C>T	ENST00000313599.3	-	10	2453	c.2396G>A	c.(2395-2397)gGa>gAa	p.G799E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G809E|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G799E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	799	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATATCAGCTCCAACCAGCCT	0.453													ENSG00000177675																																					0													61.0	62.0	62.0					12																	7528586		2202	4300	6502	SO:0001583	missense	0			-	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2396G>A	12.37:g.7528586C>T	ENSP00000315945:p.Gly799Glu		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G799E	ENST00000313599.3	37	c.2396	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457362	0.43634	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.33654	1.4;1.4;1.4	2.84	0.656	0.17844	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.142683	0.31301	U	0.007890	T	0.57213	0.2038	M	0.89534	3.04	0.23336	N	0.997884	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.45512	-0.9256	10	0.72032	D	0.01	.	3.0029	0.06019	0.0:0.4674:0.2367:0.2959	.	809;799	E7EVK4;Q9NR16	.;C163B_HUMAN	E	799;809;799	ENSP00000315945:G799E;ENSP00000393474:G809E;ENSP00000379871:G799E	ENSP00000315945:G799E	G	-	2	0	CD163L1	7419853	0.010000	0.17322	0.091000	0.20842	0.145000	0.21501	0.546000	0.23284	0.503000	0.28060	0.455000	0.32223	GGA	-	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.453	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	0	0	0	37	37	72	0.00	0.00	C	NM_174941		7528586	-1	8	20	13	48	tier1	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	38.10	28.99	SNP	0.609	T	8	13
DHTKD1	55526	genome.wustl.edu	37	10	12130993	12130993	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:12130993C>T	ENST00000263035.4	+	5	788	c.726C>T	c.(724-726)ttC>ttT	p.F242F	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	242					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGCTGATGTTCCGTAAAATGC	0.438													ENSG00000181192																																					0													118.0	108.0	112.0					10																	12130993		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.726C>T	10.37:g.12130993C>T			Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.F242	ENST00000263035.4	37	c.726	CCDS7087.1	10																																																																																			-	DHTKD1	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.438	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	0	0	0	50	50	105	0.00	0.00	C	NM_018706		12130993	+1	19	44	48	70	tier1	no_errors	ENST00000263035	ensembl	human	known	74_37	silent	28.36	38.60	SNP	1.000	T	19	48
APCS	325	genome.wustl.edu	37	1	159558495	159558495	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:159558495C>T	ENST00000255040.2	+	2	766	c.669C>T	c.(667-669)gtC>gtT	p.V223V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	223	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGTGTGGGTCTGAGGTCTTG	0.463													ENSG00000132703																																					0													77.0	81.0	79.0					1																	159558495		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.669C>T	1.37:g.159558495C>T				Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.V223	ENST00000255040.2	37	c.669	CCDS1186.1	1																																																																																			-	APCS	-	superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.463	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	HGNC	protein_coding	OTTHUMT00000059024.2	0	0	0	63	63	86	0.00	0.00	C	NM_001639		159558495	+1	9	15	35	36	tier1	no_errors	ENST00000255040	ensembl	human	known	74_37	silent	20.45	29.41	SNP	0.000	T	9	35
CCDC34	91057	genome.wustl.edu	37	11	27362242	27362242	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:27362242C>T	ENST00000328697.6	-	5	1581		c.e5+1		CCDC34_ENST00000529615.1_Splice_Site	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34											endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TAAAAACCAACCTGTAAGTTT	0.323													ENSG00000109881																																					0													169.0	157.0	161.0					11																	27362242		2202	4299	6501	SO:0001630	splice_region_variant	0			-	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.907+1G>A	11.37:g.27362242C>T			B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Splice_Site	SNP	-	e5+1	ENST00000328697.6	37	c.907+1	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105668	0.77096	.	.	ENSG00000109881	ENST00000328697	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC34	27318818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.416000	0.66417	2.885000	0.99019	0.655000	0.94253	.	-	CCDC34	-	-		0.323	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	0	0	0	99	99	175	0.00	0.00	C	NM_030771	Intron	27362242	-1	44	71	46	54	tier1	no_errors	ENST00000328697	ensembl	human	known	74_37	splice_site	48.89	56.80	SNP	1.000	T	44	46
IMPG1	3617	genome.wustl.edu	37	6	76713655	76713655	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:76713655G>A	ENST00000369950.3	-	11	1337	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.S383L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGCTGGCAGTGATCCAGCAAT	0.393													ENSG00000112706																									Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	skin(1)											82.0	76.0	78.0					6																	76713655		2203	4300	6503	SO:0001583	missense	0			-	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1148C>T	6.37:g.76713655G>A	ENSP00000358966:p.Ser383Leu			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S383L	ENST00000369950.3	37	c.1148	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	0.326	-0.958963	0.02267	.	.	ENSG00000112706	ENST00000369950	T	0.19532	2.14	4.32	3.45	0.39498	.	0.964087	0.08520	N	0.933617	T	0.04679	0.0127	N	0.16478	0.41	0.09310	N	0.99999	B	0.13594	0.008	B	0.13407	0.009	T	0.40156	-0.9578	10	0.33141	T	0.24	.	8.3983	0.32570	0.1077:0.0:0.8923:0.0	.	383	Q17R60	IMPG1_HUMAN	L	383	ENSP00000358966:S383L	ENSP00000358966:S383L	S	-	2	0	IMPG1	76770375	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.386000	0.20702	1.169000	0.42739	0.563000	0.77884	TCA	-	IMPG1	-	NULL		0.393	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	0	0	0	114	114	97	0.00	0.00	G	NM_001563		76713655	-1	23	30	71	80	tier1	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	24.47	27.27	SNP	0.002	A	23	71
RP11-597D13.7	0	genome.wustl.edu	37	4	159198884	159198884	+	RNA	SNP	G	G	A	rs574268375	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:159198884G>A	ENST00000512016.1	+	0	2246																											CTCAGGCTGCGGGAGGGGACG	0.557													ENSG00000251429																																					0																																												0			-																													4.37:g.159198884G>A				R	SNP	-	NULL	ENST00000512016.1	37	NULL		4																																																																																			-	RP11-597D13.7	-	-		0.557	RP11-597D13.7-002	KNOWN	basic	processed_transcript	ENSG00000251429	Clone_based_vega_gene	pseudogene	OTTHUMT00000365621.1	0	0	0	12	12	52	0.00	0.00	G			159198884	+1	10	50	4	14	tier1	no_errors	ENST00000512016	ensembl	human	known	74_37	rna	71.43	78.12	SNP	0.005	A	10	4
DDX18	8886	genome.wustl.edu	37	2	118586926	118586926	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:118586926C>T	ENST00000263239.2	+	13	1882	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	585					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCATATAAGTCATACATACGA	0.343													ENSG00000088205																																					0													106.0	107.0	106.0					2																	118586926		2203	4300	6503	SO:0001583	missense	0			-	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1754C>T	2.37:g.118586926C>T	ENSP00000263239:p.Ser585Leu		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S585L	ENST00000263239.2	37	c.1754	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160900	0.78226	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.03004	4.08	4.67	4.67	0.58626	.	0.825082	0.11487	N	0.559109	T	0.27900	0.0687	H	0.97214	3.96	0.58432	D	0.999997	P	0.48764	0.915	P	0.55749	0.783	T	0.36311	-0.9753	10	0.87932	D	0	-0.0943	16.2848	0.82714	0.0:1.0:0.0:0.0	.	585	Q9NVP1	DDX18_HUMAN	L	585;324	ENSP00000263239:S585L	ENSP00000263239:S585L	S	+	2	0	DDX18	118303396	1.000000	0.71417	0.956000	0.39512	0.585000	0.36419	7.077000	0.76814	2.595000	0.87683	0.650000	0.86243	TCA	-	DDX18	-	NULL		0.343	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	0	0	0	64	64	41	0.00	0.00	C	NM_006773		118586926	+1	11	12	36	41	tier1	no_errors	ENST00000263239	ensembl	human	known	74_37	missense	23.40	22.64	SNP	0.999	T	11	36
DUSP22	56940	genome.wustl.edu	37	6	348136	348136	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:348136G>A	ENST00000344450.5	+	6	740	c.297G>A	c.(295-297)gtG>gtA	p.V99V	DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000419235.2_Silent_p.V99V	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	99	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGACACTGGTGATCGCATACA	0.602													ENSG00000112679																																					0													185.0	171.0	176.0					6																	348136		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.297G>A	6.37:g.348136G>A			B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.V99	ENST00000344450.5	37	c.297	CCDS4468.1	6	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277791	0.23307	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.82	1.95	0.26073	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20405	-1.0276	4	.	.	.	.	2.0983	0.03674	0.2588:0.1281:0.4816:0.1314	.	.	.	.	N	37	.	.	D	+	1	0	DUSP22	293136	1.000000	0.71417	0.953000	0.39169	0.822000	0.46500	1.133000	0.31430	0.763000	0.33175	0.655000	0.94253	GAT	-	DUSP22	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.602	DUSP22-001	KNOWN	basic|CCDS	protein_coding	DUSP22	HGNC	protein_coding	OTTHUMT00000039621.1	0	0	0	102	102	108	0.00	0.00	G	NM_020185		348136	+1	18	9	69	71	tier1	no_errors	ENST00000419235	ensembl	human	known	74_37	silent	20.45	11.25	SNP	1.000	A	18	69
OR51G2	81282	genome.wustl.edu	37	11	4936114	4936114	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:4936114C>T	ENST00000322013.3	-	1	808	c.780G>A	c.(778-780)atG>atA	p.M260I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGGCCAATCATGGGAGTGT	0.537													ENSG00000176893																																					0													147.0	127.0	134.0					11																	4936114		2201	4298	6499	SO:0001583	missense	0			-	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.780G>A	11.37:g.4936114C>T	ENSP00000322593:p.Met260Ile		Q6IFH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M260I	ENST00000322013.3	37	c.780	CCDS31365.1	11	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415940	0.25552	.	.	ENSG00000176893	ENST00000322013	T	0.35605	1.3	5.48	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.29491	0.0735	L	0.43923	1.385	0.28771	N	0.900353	B	0.27932	0.194	B	0.33196	0.159	T	0.09618	-1.0666	10	0.25106	T	0.35	.	8.2908	0.31956	0.0:0.6623:0.2557:0.082	.	260	Q8NGK0	O51G2_HUMAN	I	260	ENSP00000322593:M260I	ENSP00000322593:M260I	M	-	3	0	OR51G2	4892690	0.000000	0.05858	1.000000	0.80357	0.926000	0.56050	-0.994000	0.03716	2.848000	0.98002	0.655000	0.94253	ATG	-	OR51G2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.537	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	0	0	0	87	87	94	0.00	0.00	C	NM_001005238		4936114	-1	6	10	33	82	tier1	no_errors	ENST00000322013	ensembl	human	known	74_37	missense	15.38	10.87	SNP	0.931	T	6	33
PIGT	51604	genome.wustl.edu	37	20	44045318	44045318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44045318C>T	ENST00000279036.6	+	2	429	c.349C>T	c.(349-351)Caa>Taa	p.Q117*	PIGT_ENST00000372689.5_Nonsense_Mutation_p.Q117*|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000543458.2_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	117					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GGTCTGGTTCCAAGACACTGT	0.597													ENSG00000124155																																					0													55.0	45.0	48.0					20																	44045318		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.349C>T	20.37:g.44045318C>T	ENSP00000279036:p.Gln117*		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Nonsense_Mutation	SNP	pfam_PIG-T	p.Q117*	ENST00000279036.6	37	c.349	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.063924	0.98036	.	.	ENSG00000124155	ENST00000372689;ENST00000279036	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-12.2132	19.3629	0.94448	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	ENSP00000279036:Q117X	Q	+	1	0	PIGT	43478732	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.471000	0.80985	2.817000	0.96982	0.563000	0.77884	CAA	-	PIGT	-	pfam_PIG-T		0.597	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	0	0	0	31	31	81	0.00	0.00	C	NM_015937		44045318	+1	13	34	22	58	tier1	no_errors	ENST00000279036	ensembl	human	known	74_37	nonsense	37.14	36.96	SNP	1.000	T	13	22
ZNF611	81856	genome.wustl.edu	37	19	53208471	53208471	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:53208471G>A	ENST00000319783.1	-	7	2153	c.1837C>T	c.(1837-1839)Cgt>Tgt	p.R613C	ZNF611_ENST00000543227.1_Missense_Mutation_p.R613C|ZNF611_ENST00000453741.2_Missense_Mutation_p.R544C|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000602162.1_Missense_Mutation_p.R544C|ZNF611_ENST00000595798.1_Missense_Mutation_p.R544C|ZNF611_ENST00000540744.1_Missense_Mutation_p.R613C	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGAAGTCTACGATGGCAATGA	0.438													ENSG00000213020																																					0													238.0	220.0	226.0					19																	53208471		2203	4300	6503	SO:0001583	missense	0			-	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1837C>T	19.37:g.53208471G>A	ENSP00000322427:p.Arg613Cys		B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R613C	ENST00000319783.1	37	c.1837	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	7.404	0.633399	0.14322	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14657	0.0354	L	0.49455	1.56	0.09310	N	1	B	0.24426	0.103	B	0.22386	0.039	T	0.28038	-1.0056	9	0.87932	D	0	.	8.0133	0.30365	0.2671:0.0:0.7329:0.0	.	613	Q8N823	ZN611_HUMAN	C	613;613;544;613	ENSP00000437616:R613C;ENSP00000439211:R613C;ENSP00000443505:R544C;ENSP00000322427:R613C	ENSP00000322427:R613C	R	-	1	0	ZNF611	57900283	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.430000	0.06973	-0.890000	0.03945	-0.657000	0.03884	CGT	-	ZNF611	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	0	0	0	128	128	38	0.00	0.00	G	NM_030972		53208471	-1	20	9	85	27	tier1	no_errors	ENST00000319783	ensembl	human	known	74_37	missense	19.05	25.00	SNP	0.000	A	20	85
PTPRK	5796	genome.wustl.edu	37	6	128316681	128316681	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:128316681C>T	ENST00000368215.3	-	18	2766	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N	PTPRK_ENST00000368226.4_Missense_Mutation_p.D924N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D940N|PTPRK_ENST00000368210.3_Missense_Mutation_p.D936N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D950N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D924N|PTPRK_ENST00000368227.3_Missense_Mutation_p.D936N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	923	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTGGAGTGATCATCtaaaatt	0.323													ENSG00000152894																																					0													29.0	31.0	30.0					6																	128316681		2192	4278	6470	SO:0001583	missense	0			-	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2767G>A	6.37:g.128316681C>T	ENSP00000357198:p.Asp923Asn		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D936N	ENST00000368215.3	37	c.2806		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882110|4.882110	0.91740|0.91740	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055|ENST00000415046	T;T;T;T;T;T;T;D|.	0.88586|.	0.7;0.7;0.7;0.7;0.7;0.7;0.7;-2.4|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85716|0.85716	0.5761|0.5761	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;0.997|.	D;D;D;D|.	0.85130|.	0.997;0.995;0.997;0.994|.	D|D	0.87809|0.87809	0.2630|0.2630	10|5	0.87932|.	D|.	0|.	.|.	20.3606|20.3606	0.98856|0.98856	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	940;924;923;924|.	B7ZMG0;Q15262-3;Q15262;Q15262-2|.	.;.;PTPRK_HUMAN;.|.	N|I	924;936;940;924;936;923;950;183|216	ENSP00000357209:D924N;ENSP00000357210:D936N;ENSP00000432973:D940N;ENSP00000357196:D924N;ENSP00000357193:D936N;ENSP00000357198:D923N;ENSP00000357190:D950N;ENSP00000408180:D183N|.	ENSP00000357190:D950N|.	D|M	-|-	1|3	0|0	PTPRK|PTPRK	128358374|128358374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	7.818000|7.818000	0.86416|0.86416	2.817000|2.817000	0.96982|0.96982	0.557000|0.557000	0.71058|0.71058	GAT|ATG	-	PTPRK	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.323	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	0	0	0	163	163	29	0.00	0.00	C			128316681	-1	43	4	144	25	tier1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	22.87	13.79	SNP	1.000	T	43	144
CDH12	1010	genome.wustl.edu	37	5	22078924	22078924	+	5'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:22078924C>T	ENST00000382254.1	-	0	948				CDH12_ENST00000522262.1_5'UTR|CDH12_ENST00000504376.2_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGGCATTAATCCTTTTGATGA	0.358										HNSCC(59;0.17)			ENSG00000154162																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.-139G>A	5.37:g.22078924C>T			B2RBT1|B7Z2U6|Q86UD2	R	SNP	-	NULL	ENST00000382254.1	37	NULL	CCDS3890.1	5																																																																																			-	CDH12	-	-		0.358	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	0	0	0	78	78	113	0.00	0.00	C	NM_004061		22078924	-1	43	28	59	53	tier1	no_errors	ENST00000518209	ensembl	human	known	74_37	rna	42.16	34.57	SNP	1.000	T	43	59
STK19	8859	genome.wustl.edu	37	6	31948444	31948444	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31948444C>T	ENST00000375333.2	+	7	980	c.927C>T	c.(925-927)gtC>gtT	p.V309V	STK19_ENST00000375331.2_Silent_p.V305V|C4A_ENST00000498271.1_5'Flank|C4A_ENST00000537134.1_5'Flank|C4A_ENST00000428956.2_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	309					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCCAGGCTGTCCTTAGCATGG	0.617													ENSG00000204344																																					0													52.0	70.0	64.0					6																	31948444		1507	2708	4215	SO:0001819	synonymous_variant	0			-	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.927C>T	6.37:g.31948444C>T			A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Silent	SNP	pfam_Ser/Thr_kinase_19	p.V309	ENST00000375333.2	37	c.927	CCDS4733.1	6																																																																																			-	STK19	-	pfam_Ser/Thr_kinase_19		0.617	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STK19	HGNC	protein_coding	OTTHUMT00000076484.3	0	0	0	71	71	78	0.00	0.00	C			31948444	+1	23	27	32	46	tier1	no_errors	ENST00000375333	ensembl	human	known	74_37	silent	41.82	36.99	SNP	0.999	T	23	32
TGIF2LX	90316	genome.wustl.edu	37	X	89177805	89177805	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:89177805C>T	ENST00000561129.2	+	1	851	c.721C>T	c.(721-723)Cca>Tca	p.P241S	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P241S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P241T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGAGCCTAATCCATGATTGAT	0.463													ENSG00000153779																																					1	Substitution - Missense(1)	lung(1)											42.0	45.0	44.0					X																	89177805		2182	4258	6440	SO:0001583	missense	0			-	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.721C>T	X.37:g.89177805C>T	ENSP00000453704:p.Pro241Ser		Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P241S	ENST00000561129.2	37	c.721	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889630	0.33348	.	.	ENSG00000153779	ENST00000283891	T	0.71461	-0.57	2.67	1.8	0.24995	.	.	.	.	.	T	0.80879	0.4708	M	0.80183	2.485	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.66340	-0.5948	8	.	.	.	-2.2682	4.8883	0.13713	0.0:0.8202:0.0:0.1798	.	241	Q8IUE1	TF2LX_HUMAN	S	241	ENSP00000355119:P241S	.	P	+	1	0	TGIF2LX	89064461	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.351000	0.07711	0.546000	0.28920	0.363000	0.22086	CCA	-	TGIF2LX	-	NULL		0.463	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	0	0	0	81	81	69	0.00	0.00	C	NM_138960		89177805	+1	37	33	29	24	tier1	no_errors	ENST00000283891	ensembl	human	known	74_37	missense	56.06	57.89	SNP	0.001	T	37	29
C11orf65	160140	genome.wustl.edu	37	11	108302545	108302545	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:108302545G>A	ENST00000529391.1	-	2	111	c.102C>T	c.(100-102)caC>caT	p.H34H	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000393084.1_Silent_p.H34H			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	34										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		GACTTTTAAAGTGTTGAAATA	0.318													ENSG00000166323																																					0													149.0	150.0	150.0					11																	108302545		2200	4292	6492	SO:0001819	synonymous_variant	0			-	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.102C>T	11.37:g.108302545G>A			B4DZU4|Q6PCA8	Silent	SNP	NULL	p.H34	ENST00000529391.1	37	c.102	CCDS8340.1	11																																																																																			-	C11orf65	-	NULL		0.318	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf65	HGNC	protein_coding	OTTHUMT00000390010.3	0	0	1	127	127	109	0.00	0.89	G	NM_152587		108302545	-1	49	61	73	56	tier1	no_errors	ENST00000393084	ensembl	human	known	74_37	silent	40.16	52.14	SNP	0.774	A	49	73
MMD2	221938	genome.wustl.edu	37	7	4950810	4950810	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:4950810C>T	ENST00000404774.3	-	5	627	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	MMD2_ENST00000401401.3_Missense_Mutation_p.V145M|MMD2_ENST00000406755.1_Missense_Mutation_p.V145M	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	145						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ATGGTGCCCACGGAAGCCATA	0.622													ENSG00000136297																																					0													22.0	26.0	24.0					7																	4950810		1929	4133	6062	SO:0001583	missense	0			-	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.433G>A	7.37:g.4950810C>T	ENSP00000384690:p.Val145Met		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.V145M	ENST00000404774.3	37	c.433	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043530	0.19748	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.31769	1.48;1.48;1.48	5.51	3.67	0.42095	.	0.520122	0.19526	N	0.112161	T	0.34164	0.0888	L	0.28649	0.875	0.09310	N	1	D;P;B	0.58970	0.984;0.945;0.082	P;P;B	0.57911	0.829;0.475;0.017	T	0.07558	-1.0766	10	0.31617	T	0.26	-19.7377	10.2205	0.43194	0.0:0.7729:0.0:0.2271	.	145;145;145	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	M	145	ENSP00000384690:V145M;ENSP00000385963:V145M;ENSP00000384141:V145M	ENSP00000384141:V145M	V	-	1	0	MMD2	4917336	0.000000	0.05858	0.002000	0.10522	0.519000	0.34347	0.330000	0.19715	1.297000	0.44761	0.655000	0.94253	GTG	-	MMD2	-	pfam_HlyIII-related		0.622	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	0	0	0	161	161	48	0.00	0.00	C	NM_198403		4950810	-1	49	19	110	52	tier1	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	30.82	26.76	SNP	0.001	T	49	110
RTL1	388015	genome.wustl.edu	37	14	101349282	101349282	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:101349282G>A	ENST00000534062.1	-	1	1902	c.1844C>T	c.(1843-1845)cCt>cTt	p.P615L	MIR433_ENST00000384837.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	615					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGTTCCCAAGGCGCGGTGGA	0.552													ENSG00000254656																																					0													44.0	39.0	41.0					14																	101349282		1568	3582	5150	SO:0001583	missense	0			-		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1844C>T	14.37:g.101349282G>A	ENSP00000435342:p.Pro615Leu		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.P615L	ENST00000534062.1	37	c.1844	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237146	0.39498	.	.	ENSG00000254656	ENST00000534062	T	0.71461	-0.57	3.54	3.54	0.40534	.	0.000000	0.32093	N	0.006597	T	0.74635	0.3742	M	0.68952	2.095	0.09310	N	0.999999	D	0.54047	0.964	P	0.50860	0.652	T	0.69510	-0.5126	10	0.72032	D	0.01	.	13.4168	0.60974	0.0:0.0:1.0:0.0	.	615	E9PKS8	.	L	615	ENSP00000435342:P615L	ENSP00000435342:P615L	P	-	2	0	RTL1	100419035	0.697000	0.27767	0.008000	0.14137	0.902000	0.53008	5.962000	0.70364	2.283000	0.76528	0.467000	0.42956	CCT	-	RTL1	-	NULL		0.552	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	0	0	0	51	51	90	0.00	0.00	G	NM_001134888		101349282	-1	25	32	19	26	tier1	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	56.82	55.17	SNP	0.100	A	25	19
HNRNPM	4670	genome.wustl.edu	37	19	8536305	8536305	+	Missense_Mutation	SNP	C	C	T	rs558277951		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:8536305C>T	ENST00000325495.4	+	10	1032	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	HNRNPM_ENST00000348943.3_Missense_Mutation_p.P292S	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	331					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAACATAGGTCCCGCAGGTGA	0.458													ENSG00000099783																																					0													93.0	70.0	78.0					19																	8536305		2203	4300	6503	SO:0001583	missense	0			-	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.991C>T	19.37:g.8536305C>T	ENSP00000325376:p.Pro331Ser		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.P331S	ENST00000325495.4	37	c.991	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474997	0.63737	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.21031	2.03;2.36	5.32	5.32	0.75619	.	0.046320	0.85682	D	0.000000	T	0.45915	0.1366	M	0.64170	1.965	0.80722	D	1	D;P;D;P;P	0.89917	0.983;0.906;1.0;0.75;0.518	D;P;D;B;B	0.97110	0.91;0.521;1.0;0.177;0.115	T	0.33574	-0.9863	10	0.59425	D	0.04	.	17.9246	0.88979	0.0:1.0:0.0:0.0	.	171;331;292;292;231	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	S	331;292;231	ENSP00000325376:P331S;ENSP00000325732:P292S	ENSP00000325376:P331S	P	+	1	0	HNRNPM	8442305	0.999000	0.42202	0.791000	0.31998	0.194000	0.23727	4.926000	0.63433	2.634000	0.89283	0.655000	0.94253	CCC	-	HNRNPM	-	NULL		0.458	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	0	0	0	96	96	117	0.00	0.00	C			8536305	+1	74	99	33	21	tier1	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	69.16	82.50	SNP	0.997	T	74	33
CASP8	841	genome.wustl.edu	37	2	202149906	202149906	+	Silent	SNP	G	G	A	rs539029508		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:202149906G>A	ENST00000432109.2	+	9	1359	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Silent_p.T407T|CASP8_ENST00000323492.7_Silent_p.T375T|CASP8_ENST00000264274.9_Silent_p.T306T|CASP8_ENST00000358485.4_Silent_p.T449T	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	390					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CACCTCAAACGAGATATATCC	0.468										HNSCC(4;0.00038)			ENSG00000064012																									Melanoma(82;831 1348 20716 36952 40159)												0													70.0	66.0	68.0					2																	202149906		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1170G>A	2.37:g.202149906G>A			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T449	ENST00000432109.2	37	c.1347	CCDS2342.1	2																																																																																			-	CASP8	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10		0.468	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	0	0	0	46	46	117	0.00	0.00	G	NM_001228		202149906	+1	9	30	26	40	tier1	no_errors	ENST00000358485	ensembl	human	known	74_37	silent	25.71	42.86	SNP	0.000	A	9	26
OR7D4	125958	genome.wustl.edu	37	19	9325175	9325175	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:9325175G>A	ENST00000308682.2	-	1	367	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CGGCCAGTAGGAAAGTATCCA	0.527													ENSG00000174667																																					0													86.0	78.0	81.0					19																	9325175		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.339C>T	19.37:g.9325175G>A			A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F113	ENST00000308682.2	37	c.339	CCDS32901.1	19																																																																																			-	OR7D4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	HGNC	protein_coding	OTTHUMT00000449004.1	0	0	0	98	98	28	0.00	0.00	G			9325175	-1	51	8	15	18	tier1	no_errors	ENST00000308682	ensembl	human	known	74_37	silent	77.27	30.77	SNP	0.000	A	51	15
TMEM184B	25829	genome.wustl.edu	37	22	38620871	38620871	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38620871C>T	ENST00000361906.3	-	8	1111	c.903G>A	c.(901-903)gtG>gtA	p.V301V	TMEM184B_ENST00000361684.4_Silent_p.V301V|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	301						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					AGAACATCTCCACACAGATGA	0.617													ENSG00000198792																																					0													66.0	52.0	57.0					22																	38620871		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.903G>A	22.37:g.38620871C>T			A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Silent	SNP	pfam_Ost-alpha	p.V301	ENST00000361906.3	37	c.903	CCDS13969.2	22																																																																																			-	TMEM184B	-	pfam_Ost-alpha		0.617	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	HGNC	protein_coding	OTTHUMT00000075445.4	0	0	0	38	38	47	0.00	0.00	C	NM_012264		38620871	-1	11	6	20	19	tier1	no_errors	ENST00000361684	ensembl	human	known	74_37	silent	35.48	24.00	SNP	1.000	T	11	20
GABRR1	2569	genome.wustl.edu	37	6	89899896	89899896	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:89899896C>T	ENST00000454853.2	-	6	753	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	GABRR1_ENST00000435811.1_Missense_Mutation_p.E198K|GABRR1_ENST00000369451.3_Missense_Mutation_p.E128K	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	215					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTTTCAATTTCAAGAGAGCAC	0.453													ENSG00000146276																																					0													152.0	133.0	139.0					6																	89899896		2203	4300	6503	SO:0001583	missense	0			-		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.643G>A	6.37:g.89899896C>T	ENSP00000412673:p.Glu215Lys		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.E215K	ENST00000454853.2	37	c.643	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	31	5.068737	0.93950	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.77750	-1.12;-1.12;-1.12	5.7	5.7	0.88788	Neurotransmitter-gated ion-channel ligand-binding (3);	0.104827	0.64402	D	0.000004	T	0.80974	0.4727	L	0.41124	1.26	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.73380	0.915;0.98	T	0.77978	-0.2384	9	.	.	.	-23.2014	19.8289	0.96627	0.0:1.0:0.0:0.0	.	198;215	P24046-2;P24046	.;GBRR1_HUMAN	K	215;198;128;128	ENSP00000412673:E215K;ENSP00000394687:E198K;ENSP00000358463:E128K	.	E	-	1	0	GABRR1	89956615	1.000000	0.71417	0.953000	0.39169	0.973000	0.67179	5.956000	0.70315	2.692000	0.91855	0.467000	0.42956	GAA	-	GABRR1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.453	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	0	0	0	86	86	130	0.00	0.00	C			89899896	-1	15	34	52	87	tier1	no_errors	ENST00000454853	ensembl	human	known	74_37	missense	22.39	28.10	SNP	1.000	T	15	52
FCRL3	115352	genome.wustl.edu	37	1	157648689	157648689	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:157648689G>A	ENST00000368184.3	-	14	2350				FCRL3_ENST00000368186.5_Intron|FCRL3_ENST00000473231.1_Intron	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AAATACAGGAGAGGAAGGCCA	0.438													ENSG00000160856																																					0													169.0	160.0	163.0					1																	157648689		2203	4300	6503	SO:0001627	intron_variant	0			-	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2058+42C>T	1.37:g.157648689G>A			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	R	SNP	-	NULL	ENST00000368184.3	37	NULL	CCDS1167.1	1																																																																																			-	FCRL3	-	-		0.438	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	0	0	0	71	71	134	0.00	0.00	G	NM_052939		157648689	-1	14	26	48	84	tier1	no_errors	ENST00000468507	ensembl	human	known	74_37	rna	22.58	23.64	SNP	0.000	A	14	48
BAIAP2L2	80115	genome.wustl.edu	37	22	38481696	38481696	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:38481696G>A	ENST00000381669.3	-	13	1655	c.1511C>T	c.(1510-1512)cCg>cTg	p.P504L	SLC16A8_ENST00000469516.1_5'Flank|SLC16A8_ENST00000320521.5_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	504					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GACTCACCTCGGGAAGAGCTC	0.617													ENSG00000128298																																					0													131.0	140.0	137.0					22																	38481696		1959	4144	6103	SO:0001583	missense	0			-	BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1511C>T	22.37:g.38481696G>A	ENSP00000371085:p.Pro504Leu		B0QYE2|Q96BG7	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P504L	ENST00000381669.3	37	c.1511	CCDS43018.1	22	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860601	0.51482	.	.	ENSG00000128298	ENST00000381669;ENST00000402500	.	.	.	3.77	3.77	0.43336	.	0.128963	0.52532	D	0.000061	T	0.58779	0.2146	L	0.55834	1.745	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.59894	-0.7368	9	0.02654	T	1	.	12.6721	0.56872	0.0:0.0:1.0:0.0	.	504	Q6UXY1	BI2L2_HUMAN	L	504;490	.	ENSP00000371085:P504L	P	-	2	0	BAIAP2L2	36811642	0.967000	0.33354	0.985000	0.45067	0.608000	0.37181	1.644000	0.37228	1.823000	0.53134	0.491000	0.48974	CCG	-	BAIAP2L2	-	NULL		0.617	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	HGNC	protein_coding	OTTHUMT00000321727.1	0	0	0	31	31	47	0.00	0.00	G	NM_025045		38481696	-1	13	23	27	28	tier1	no_errors	ENST00000381669	ensembl	human	known	74_37	missense	31.71	45.10	SNP	0.992	A	13	27
AOC1	26	genome.wustl.edu	37	7	150554581	150554581	+	Silent	SNP	C	C	T	rs553084982		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150554581C>T	ENST00000493429.1	+	4	1607	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	AOC1_ENST00000360937.4_Silent_p.F341F|AOC1_ENST00000416793.2_Silent_p.F341F|AOC1_ENST00000467291.1_Silent_p.F341F			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	341					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	ACGTGCACTTCGGCGGAGAGC	0.632													ENSG00000002726																																					0													51.0	53.0	53.0					7																	150554581		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1023C>T	7.37:g.150554581C>T			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.F341	ENST00000493429.1	37	c.1023	CCDS43679.1	7																																																																																			-	AOC1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.632	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	HGNC	protein_coding	OTTHUMT00000350628.1	0	0	0	42	42	19	0.00	0.00	C	NM_001091		150554581	+1	6	4	26	17	tier1	no_errors	ENST00000416793	ensembl	human	known	74_37	silent	18.75	19.05	SNP	0.001	T	6	26
DPYD	1806	genome.wustl.edu	37	1	97548028	97548028	+	Splice_Site	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:97548028T>A	ENST00000370192.3	-	22	2867		c.e22-2			NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TATTACATCCTAAAAATAGCC	0.328													ENSG00000188641																																					0													157.0	150.0	152.0					1																	97548028		2203	4299	6502	SO:0001630	splice_region_variant	0			-	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2767-2A>T	1.37:g.97548028T>A			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Splice_Site	SNP	-	e22-2	ENST00000370192.3	37	c.2767-2	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099707	0.37048	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1779	0.81874	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPYD	97320616	1.000000	0.71417	0.929000	0.37066	0.061000	0.15899	7.083000	0.76859	2.216000	0.71823	0.533000	0.62120	.	-	DPYD	-	-		0.328	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	0	0	0	57	57	81	0.00	0.00	T	NM_000110	Intron	97548028	-1	14	18	60	76	tier1	no_errors	ENST00000370192	ensembl	human	known	74_37	splice_site	18.92	18.95	SNP	0.995	A	14	60
GPLD1	2822	genome.wustl.edu	37	6	24460571	24460571	+	Missense_Mutation	SNP	C	C	T	rs200155983	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:24460571C>T	ENST00000230036.1	-	12	1054	c.944G>A	c.(943-945)aGt>aAt	p.S315N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	315					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCTGTCAACACTTTCAGTTAG	0.358													ENSG00000112293																																					0													140.0	144.0	142.0					6																	24460571		2203	4300	6503	SO:0001583	missense	0			-	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.944G>A	6.37:g.24460571C>T	ENSP00000230036:p.Ser315Asn		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.S315N	ENST00000230036.1	37	c.944	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	3.392	-0.124122	0.06795	.	.	ENSG00000112293	ENST00000230036	T	0.64803	-0.12	5.78	3.29	0.37713	.	0.911849	0.09390	N	0.808668	T	0.08179	0.0204	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31024	-0.9958	10	0.17369	T	0.5	-2.2523	3.5525	0.07851	0.1334:0.0743:0.1389:0.6535	.	315	P80108	PHLD_HUMAN	N	315	ENSP00000230036:S315N	ENSP00000230036:S315N	S	-	2	0	GPLD1	24568550	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.093000	0.15086	0.433000	0.26313	-0.290000	0.09829	AGT	-	GPLD1	-	NULL		0.358	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	0	0	0	130	130	103	0.00	0.00	C	NM_001503		24460571	-1	41	37	59	71	tier1	no_errors	ENST00000230036	ensembl	human	known	74_37	missense	40.59	34.26	SNP	0.000	T	41	59
FFAR3	2865	genome.wustl.edu	37	19	35850340	35850340	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:35850340C>T	ENST00000327809.4	+	2	749	c.548C>T	c.(547-549)cCc>cTc	p.P183L	FFAR3_ENST00000594310.1_Missense_Mutation_p.P183L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	183					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATCCTCCTGCCCGTGCGGCTG	0.612													ENSG00000185897																									Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													44.0	35.0	38.0					19																	35850340		2201	4298	6499	SO:0001583	missense	0			-	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.548C>T	19.37:g.35850340C>T	ENSP00000328230:p.Pro183Leu		B2RWM8|Q14CM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.P183L	ENST00000327809.4	37	c.548	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722053	0.48728	.	.	ENSG00000185897	ENST00000327809	T	0.33865	1.39	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.116385	0.64402	U	0.000020	T	0.59335	0.2186	M	0.80616	2.505	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.57946	-0.7723	10	0.11485	T	0.65	-24.3163	16.0595	0.80830	0.0:1.0:0.0:0.0	.	183	O14843	FFAR3_HUMAN	L	183	ENSP00000328230:P183L	ENSP00000328230:P183L	P	+	2	0	FFAR3	40542180	1.000000	0.71417	0.953000	0.39169	0.103000	0.19146	4.545000	0.60698	2.385000	0.81259	0.455000	0.32223	CCC	-	FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.612	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	0	0	0	48	48	37	0.00	0.00	C	NM_005304		35850340	+1	8	7	29	17	tier1	no_errors	ENST00000327809	ensembl	human	known	74_37	missense	21.62	29.17	SNP	0.997	T	8	29
ITSN2	50618	genome.wustl.edu	37	2	24507680	24507680	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:24507680G>A	ENST00000355123.4	-	17	2339	c.1896C>T	c.(1894-1896)tgC>tgT	p.C632C	ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Silent_p.C632C	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	632					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGACAAAAGGCACTGAAGAA	0.313													ENSG00000198399																																					0													117.0	118.0	117.0					2																	24507680		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1896C>T	2.37:g.24507680G>A			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.C632	ENST00000355123.4	37	c.1896	CCDS1710.2	2																																																																																			-	ITSN2	-	NULL		0.313	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	0	0	0	265	265	94	0.00	0.00	G	NM_006277		24507680	-1	134	25	131	43	tier1	no_errors	ENST00000355123	ensembl	human	known	74_37	silent	50.57	36.76	SNP	1.000	A	134	131
GPC5	2262	genome.wustl.edu	37	13	92797179	92797179	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:92797179G>A	ENST00000377067.3	+	7	1870	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	500					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGACTGTGATGATGAAGATGG	0.458													ENSG00000179399																																					0													183.0	156.0	165.0					13																	92797179		2203	4300	6503	SO:0001583	missense	0			-	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1498G>A	13.37:g.92797179G>A	ENSP00000366267:p.Asp500Asn		B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.D500N	ENST00000377067.3	37	c.1498	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706128	0.89018	.	.	ENSG00000179399	ENST00000377067	T	0.56275	0.47	5.83	5.83	0.93111	.	0.240387	0.41500	D	0.000861	T	0.74207	0.3686	M	0.77103	2.36	0.47037	D	0.999295	D	0.89917	1.0	D	0.91635	0.999	T	0.76451	-0.2954	10	0.87932	D	0	0.2582	17.2722	0.87105	0.0:0.0:1.0:0.0	.	500	P78333	GPC5_HUMAN	N	500	ENSP00000366267:D500N	ENSP00000366267:D500N	D	+	1	0	GPC5	91595180	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	6.945000	0.75947	2.757000	0.94681	0.563000	0.77884	GAT	-	GPC5	-	pfam_Glypican		0.458	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	0	0	0	148	148	116	0.00	0.00	G	NM_004466		92797179	+1	34	16	91	53	tier1	no_errors	ENST00000377067	ensembl	human	known	74_37	missense	27.20	23.19	SNP	1.000	A	34	91
RGPD4	285190	genome.wustl.edu	37	2	108499159	108499159	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:108499159G>A	ENST00000408999.3	+	22	5173	c.5096G>A	c.(5095-5097)aGg>aAg	p.R1699K	RGPD4_ENST00000354986.4_Missense_Mutation_p.R1699K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1699					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGATTGGAAAGGAATCAAGAG	0.403													ENSG00000196862																																					0													372.0	313.0	331.0					2																	108499159		692	1591	2283	SO:0001583	missense	0			-	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5096G>A	2.37:g.108499159G>A	ENSP00000386810:p.Arg1699Lys		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R1699K	ENST00000408999.3	37	c.5096	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	12.25	1.882386	0.33255	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.52754	0.68;0.65	0.854	0.854	0.19007	.	.	.	.	.	T	0.50616	0.1626	L	0.47716	1.5	0.23673	N	0.99715	P	0.52463	0.953	P	0.53988	0.739	T	0.40850	-0.9541	9	0.87932	D	0	-1.0557	9.0795	0.36542	0.0:0.0:1.0:0.0	.	1699	Q7Z3J3	RGPD4_HUMAN	K	1699;1699;1066	ENSP00000347081:R1699K;ENSP00000386810:R1699K	ENSP00000347081:R1699K	R	+	2	0	RGPD4	107865591	1.000000	0.71417	0.992000	0.48379	0.524000	0.34500	6.676000	0.74498	0.767000	0.33267	0.398000	0.26397	AGG	-	RGPD4	-	NULL		0.403	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	0	0	0	441	441	38	0.00	0.00	G	XM_496581		108499159	+1	70	4	319	25	tier1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	17.99	13.79	SNP	0.999	A	70	319
ENPP2	5168	genome.wustl.edu	37	8	120629450	120629450	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:120629450G>A	ENST00000075322.6	-	7	669	c.611C>T	c.(610-612)cCg>cTg	p.P204L	ENPP2_ENST00000259486.6_Missense_Mutation_p.P204L|ENPP2_ENST00000427067.2_Missense_Mutation_p.P200L|ENPP2_ENST00000522826.1_Missense_Mutation_p.P204L	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	204					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGGGTACACCGGCCTCATGTA	0.393													ENSG00000136960																									Melanoma(20;305 879 2501 4818 31020)												0													78.0	76.0	77.0					8																	120629450		2203	4300	6503	SO:0001583	missense	0			-	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.611C>T	8.37:g.120629450G>A	ENSP00000075322:p.Pro204Leu		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P204L	ENST00000075322.6	37	c.611	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.278051	0.95459	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	5.81	5.81	0.92471	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91681	0.5358	10	0.87932	D	0	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	204;204;204	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	L	204;200;204;204;186	ENSP00000259486:P204L;ENSP00000403315:P200L;ENSP00000428291:P204L;ENSP00000075322:P204L;ENSP00000428304:P186L	ENSP00000075322:P204L	P	-	2	0	ENPP2	120698631	1.000000	0.71417	0.945000	0.38365	0.923000	0.55619	9.845000	0.99498	2.747000	0.94245	0.650000	0.86243	CCG	-	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.393	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	0	0	0	127	127	117	0.00	0.00	G			120629450	-1	47	39	98	123	tier1	no_errors	ENST00000259486	ensembl	human	known	74_37	missense	32.41	24.07	SNP	1.000	A	47	98
MUC16	94025	genome.wustl.edu	37	19	9050056	9050056	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:9050056G>A	ENST00000397910.4	-	5	31778	c.31575C>T	c.(31573-31575)atC>atT	p.I10525I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10527	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGGGTTGTGATCATCATTT	0.507													ENSG00000181143																																					0													490.0	459.0	469.0					19																	9050056		2103	4215	6318	SO:0001819	synonymous_variant	0			-	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31575C>T	19.37:g.9050056G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I10525	ENST00000397910.4	37	c.31575	CCDS54212.1	19																																																																																			-	MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	0	0	0	67	67	96	0.00	0.00	G	NM_024690		9050056	-1	40	40	15	33	tier1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	72.73	54.79	SNP	0.000	A	40	15
CARD10	29775	genome.wustl.edu	37	22	37891942	37891942	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:37891942G>A	ENST00000403299.1	-	15	2344	c.2128C>T	c.(2128-2130)Cgt>Tgt	p.R710C	CARD10_ENST00000406271.3_Missense_Mutation_p.R424C|CARD10_ENST00000251973.5_Missense_Mutation_p.R710C			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	710					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGGTTGGCACGAATGTAGAAG	0.617													ENSG00000100065																																					0													68.0	61.0	63.0					22																	37891942		2203	4300	6503	SO:0001583	missense	0			-	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2128C>T	22.37:g.37891942G>A	ENSP00000384570:p.Arg710Cys		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.R710C	ENST00000403299.1	37	c.2128	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876492	0.91664	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.69926	-0.44;1.27;-0.44;-0.33	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.82089	0.4961	M	0.79475	2.455	0.53688	D	0.999973	D;D	0.89917	0.999;1.0	P;D	0.83275	0.828;0.996	D	0.84859	0.0818	10	0.87932	D	0	-7.9086	16.4258	0.83814	0.0:0.0:1.0:0.0	.	710;424	Q9BWT7;Q8NC81	CAR10_HUMAN;.	C	710;424;710;351;182	ENSP00000384570:R710C;ENSP00000385799:R424C;ENSP00000251973:R710C;ENSP00000416239:R351C	ENSP00000251973:R710C	R	-	1	0	CARD10	36221888	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	6.772000	0.75001	2.289000	0.77006	0.561000	0.74099	CGT	-	CARD10	-	NULL		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	0	0	0	42	42	105	0.00	0.00	G	NM_014550		37891942	-1	16	16	26	55	tier1	no_errors	ENST00000251973	ensembl	human	known	74_37	missense	38.10	22.22	SNP	1.000	A	16	26
F11R	50848	genome.wustl.edu	37	1	160970569	160970569	+	Splice_Site	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:160970569T>A	ENST00000368026.6	-	4	516		c.e4-2		F11R_ENST00000289779.3_Splice_Site|F11R_ENST00000537746.1_Intron|F11R_ENST00000472573.1_Splice_Site	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CATAGGAAGCTACCACAAGAG	0.547													ENSG00000158769																																					0													86.0	70.0	75.0					1																	160970569		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.242-2A>T	1.37:g.160970569T>A			B7Z941	Splice_Site	SNP	-	e4-2	ENST00000368026.6	37	c.242-2	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485136	0.44147	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9694	0.58503	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	F11R	159237193	0.996000	0.38824	0.895000	0.35142	0.455000	0.32408	3.798000	0.55522	1.937000	0.56155	0.460000	0.39030	.	-	F11R	-	-		0.547	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	0	0	0	47	47	174	0.00	0.00	T	NM_016946	Intron	160970569	-1	11	56	21	71	tier1	no_errors	ENST00000368026	ensembl	human	known	74_37	splice_site	33.33	43.41	SNP	0.972	A	11	21
PTPRK	5796	genome.wustl.edu	37	6	128291379	128291379	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:128291379G>A	ENST00000368215.3	-	30	4312	c.4313C>T	c.(4312-4314)tCa>tTa	p.S1438L	PTPRK_ENST00000368226.4_Missense_Mutation_p.S1439L|PTPRK_ENST00000532331.1_Missense_Mutation_p.S1461L|PTPRK_ENST00000368210.3_Missense_Mutation_p.S1457L|PTPRK_ENST00000368207.3_Missense_Mutation_p.S1471L|PTPRK_ENST00000368213.5_Missense_Mutation_p.S1445L|PTPRK_ENST00000368227.3_Missense_Mutation_p.S1456L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1438					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAACTAAGATGATTCCAGGTA	0.398													ENSG00000152894																																					0													112.0	97.0	102.0					6																	128291379		2203	4300	6503	SO:0001583	missense	0			-	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4313C>T	6.37:g.128291379G>A	ENSP00000357198:p.Ser1438Leu		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S1456L	ENST00000368215.3	37	c.4367		6	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338537	0.60963	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.12774	2.72;2.65;2.68;2.78;2.7;2.72;2.68	5.17	5.17	0.71159	.	0.130157	0.53938	D	0.000052	T	0.12347	0.0300	M	0.71206	2.165	0.80722	D	1	P;P;B;B	0.41313	0.745;0.481;0.131;0.206	B;B;B;B	0.36567	0.114;0.228;0.026;0.058	T	0.04427	-1.0952	10	0.87932	D	0	.	18.9908	0.92791	0.0:0.0:1.0:0.0	.	1461;1445;1438;1439	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	L	1439;1456;1461;1445;1457;1438;1471	ENSP00000357209:S1439L;ENSP00000357210:S1456L;ENSP00000432973:S1461L;ENSP00000357196:S1445L;ENSP00000357193:S1457L;ENSP00000357198:S1438L;ENSP00000357190:S1471L	ENSP00000357190:S1471L	S	-	2	0	PTPRK	128333072	1.000000	0.71417	0.535000	0.28026	0.960000	0.62799	9.809000	0.99208	2.546000	0.85860	0.655000	0.94253	TCA	-	PTPRK	-	NULL		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	0	0	0	36	36	114	0.00	0.00	G			128291379	-1	13	24	21	81	tier1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	38.24	22.86	SNP	0.998	A	13	21
PRKAA2	5563	genome.wustl.edu	37	1	57169747	57169747	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57169747G>A	ENST00000371244.4	+	7	958	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	298	AIS. {ECO:0000250}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGAAGTGTGTGAAAAATTTGA	0.383													ENSG00000162409																																					0													173.0	168.0	170.0					1																	57169747		2203	4300	6503	SO:0001583	missense	0			-	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.892G>A	1.37:g.57169747G>A	ENSP00000360290:p.Glu298Lys		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E298K	ENST00000371244.4	37	c.892	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782676	0.70222	.	.	ENSG00000162409	ENST00000371244	T	0.72615	-0.67	5.91	5.91	0.95273	.	0.093581	0.64402	D	0.000001	T	0.68430	0.3000	L	0.52206	1.635	0.80722	D	1	B	0.24882	0.113	B	0.21546	0.035	T	0.62044	-0.6937	10	0.35671	T	0.21	-26.2057	20.2963	0.98556	0.0:0.0:1.0:0.0	.	298	P54646	AAPK2_HUMAN	K	298	ENSP00000360290:E298K	ENSP00000360290:E298K	E	+	1	0	PRKAA2	56942335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.813000	0.96785	0.655000	0.94253	GAA	-	PRKAA2	-	NULL		0.383	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	0	0	0	61	61	138	0.00	0.00	G	NM_006252		57169747	+1	20	19	59	103	tier1	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	25.32	15.57	SNP	1.000	A	20	59
OR11H6	122748	genome.wustl.edu	37	14	20692109	20692109	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:20692109C>T	ENST00000315519.2	+	1	319	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTACATCCTTCTGGGAAACTT	0.463													ENSG00000176219																																					2	Substitution - Missense(2)	lung(2)											114.0	103.0	107.0					14																	20692109		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.241C>T	14.37:g.20692109C>T			Q6IF08	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L81	ENST00000315519.2	37	c.241	CCDS32033.1	14																																																																																			-	OR11H6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.463	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	HGNC	protein_coding	OTTHUMT00000410676.1	0	0	0	49	49	124	0.00	0.00	C			20692109	+1	14	54	12	51	tier1	no_errors	ENST00000315519	ensembl	human	known	74_37	silent	53.85	51.43	SNP	0.267	T	14	12
PKHD1L1	93035	genome.wustl.edu	37	8	110453571	110453571	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:110453571G>A	ENST00000378402.5	+	34	4271	c.4167G>A	c.(4165-4167)ggG>ggA	p.G1389G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1389	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTCAACTGGGAATATATTCA	0.299										HNSCC(38;0.096)			ENSG00000205038																																					0													43.0	43.0	43.0					8																	110453571		1811	4059	5870	SO:0001819	synonymous_variant	0			-	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4167G>A	8.37:g.110453571G>A			Q567P2|Q9UF27	Silent	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.G1389	ENST00000378402.5	37	c.4167	CCDS47911.1	8																																																																																			-	PKHD1L1	-	superfamily_Ig_E-set,smart_IPT		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	0	0	0	169	169	73	0.00	0.00	G	NM_177531		110453571	+1	68	28	165	97	tier1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	29.18	22.40	SNP	0.150	A	68	165
ANK3	288	genome.wustl.edu	37	10	61832873	61832873	+	Missense_Mutation	SNP	G	G	A	rs562676999		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61832873G>A	ENST00000280772.2	-	37	7957	c.7766C>T	c.(7765-7767)aCt>aTt	p.T2589I	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2589					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGACACTTCAGTCAGTTTTTC	0.418													ENSG00000151150	G|||	1	0.000199681	0.0	0.0	5008	,	,		19987	0.0		0.0	False		,,,				2504	0.001																0													113.0	105.0	108.0					10																	61832873		2203	4300	6503	SO:0001583	missense	0			-	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7766C>T	10.37:g.61832873G>A	ENSP00000280772:p.Thr2589Ile		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T2589I	ENST00000280772.2	37	c.7766	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331953	0.60853	.	.	ENSG00000151150	ENST00000280772	T	0.67865	-0.29	5.66	5.66	0.87406	.	0.000000	0.43416	D	0.000571	T	0.74642	0.3743	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.75224	-0.3393	10	0.56958	D	0.05	.	19.7366	0.96208	0.0:0.0:1.0:0.0	.	2589	Q12955	ANK3_HUMAN	I	2589	ENSP00000280772:T2589I	ENSP00000280772:T2589I	T	-	2	0	ANK3	61502879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.970000	0.70431	2.667000	0.90743	0.462000	0.41574	ACT	-	ANK3	-	NULL		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	0	0	0	16	16	119	0.00	0.00	G	NM_020987		61832873	-1	8	38	1	22	tier1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	88.89	63.33	SNP	1.000	A	8	1
DDX4	54514	genome.wustl.edu	37	5	55075804	55075804	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:55075804G>A	ENST00000505374.1	+	8	499	c.407G>A	c.(406-408)gGa>gAa	p.G136E	DDX4_ENST00000511853.1_Intron|RNA5SP183_ENST00000362452.1_RNA|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.G116E	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	136	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TATCGAGATGGAAATAATTCA	0.403													ENSG00000152670																																					0													130.0	121.0	124.0					5																	55075804		2203	4300	6503	SO:0001583	missense	0			-	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.407G>A	5.37:g.55075804G>A	ENSP00000424838:p.Gly136Glu		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif	p.G136E	ENST00000505374.1	37	c.407	CCDS3969.1	5	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621531	0.66787	.	.	ENSG00000152670	ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000514679;ENST00000511491	T;T;T;T;T;T	0.63417	2.02;2.0;3.54;0.79;-0.04;0.44	5.37	4.51	0.55191	.	0.274240	0.35466	N	0.003199	T	0.66723	0.2818	L	0.38531	1.155	0.37713	D	0.924623	P;D	0.89917	0.724;1.0	B;D	0.91635	0.274;0.999	T	0.68599	-0.5366	10	0.38643	T	0.18	-22.0906	8.0703	0.30685	0.1766:0.0:0.8234:0.0	.	116;136	D6RDK4;Q9NQI0	.;DDX4_HUMAN	E	116;136;116;110;136;136	ENSP00000425359:G116E;ENSP00000424838:G136E;ENSP00000427167:G116E;ENSP00000424779:G110E;ENSP00000424112:G136E;ENSP00000427522:G136E	ENSP00000424838:G136E	G	+	2	0	DDX4	55111561	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.445000	0.44899	1.509000	0.48786	0.650000	0.86243	GGA	-	DDX4	-	NULL		0.403	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2	0	0	0	41	41	104	0.00	0.00	G	NM_024415		55075804	+1	17	39	9	28	tier1	no_errors	ENST00000505374	ensembl	human	known	74_37	missense	65.38	57.35	SNP	1.000	A	17	9
LRBA	987	genome.wustl.edu	37	4	151356812	151356812	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:151356812G>A	ENST00000357115.3	-	47	7246	c.7003C>T	c.(7003-7005)Cat>Tat	p.H2335Y	LRBA_ENST00000507224.1_Missense_Mutation_p.H2324Y|LRBA_ENST00000535741.1_Missense_Mutation_p.H2324Y|LRBA_ENST00000510413.1_Missense_Mutation_p.H2324Y|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2335	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CGATCTGCATGATCAAATTTG	0.333													ENSG00000198589																																					0													74.0	79.0	77.0					4																	151356812		2203	4300	6503	SO:0001583	missense	0			-	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7003C>T	4.37:g.151356812G>A	ENSP00000349629:p.His2335Tyr		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.H2335Y	ENST00000357115.3	37	c.7003	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498147	0.64186	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.5	5.5	0.81552	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	L	0.60904	1.88	0.80722	D	1	B;B;B	0.26775	0.159;0.142;0.021	B;B;B	0.28849	0.04;0.095;0.014	T	0.73691	-0.3903	10	0.12103	T	0.63	.	19.3801	0.94529	0.0:0.0:1.0:0.0	.	2335;2324;225	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	Y	2324;2324;2335;2324	ENSP00000446299:H2324Y;ENSP00000421552:H2324Y;ENSP00000349629:H2335Y;ENSP00000422180:H2324Y	ENSP00000349629:H2335Y	H	-	1	0	LRBA	151576262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.771000	0.98977	2.574000	0.86865	0.591000	0.81541	CAT	-	LRBA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	0	0	0	222	222	69	0.00	0.00	G			151356812	-1	101	22	81	19	tier1	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	55.49	53.66	SNP	1.000	A	101	81
ADAR	103	genome.wustl.edu	37	1	154562360	154562360	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:154562360C>T	ENST00000368474.4	-	8	2740	c.2541G>A	c.(2539-2541)ctG>ctA	p.L847L	ADAR_ENST00000368471.3_Silent_p.L552L|ADAR_ENST00000292205.5_Silent_p.L890L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	847					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ACCGGTGGCTCAGCATGGCTA	0.542													ENSG00000160710																																					0													64.0	52.0	56.0					1																	154562360		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2541G>A	1.37:g.154562360C>T			B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	pfam_A_deamin,pfam_dsR_A_deaminase,pfam_dsR-bd_dom,smart_dsR_A_deaminase,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_dsR_A_deaminase,pfscan_A_deamin	p.L890	ENST00000368474.4	37	c.2670	CCDS1071.1	1																																																																																			-	ADAR	-	smart_A_deamin		0.542	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	0	0	0	35	35	56	0.00	0.00	C	NM_001111		154562360	-1	5	8	17	42	tier1	no_errors	ENST00000292205	ensembl	human	known	74_37	silent	22.73	16.00	SNP	1.000	T	5	17
IDH3B	3420	genome.wustl.edu	37	20	2639479	2639479	+	Missense_Mutation	SNP	C	C	T	rs151027738	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:2639479C>T	ENST00000380843.4	-	12	1106	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	SNORD57_ENST00000448188.1_RNA|SNORD86_ENST00000391196.1_RNA|IDH3B_ENST00000488299.1_5'UTR|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000380851.5_Intron	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	359					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GTCTCGAGTCCGCACCTACAG	0.542													ENSG00000101365																																					0								C	GLN/ARG,,GLN/ARG	0,4406		0,0,2203	77.0	70.0	73.0		1076,,620	2.8	1.0	20	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	43,,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	359/386,,207/234	2639479	1,13005	2203	4300	6503	SO:0001583	missense	0			-		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1076G>A	20.37:g.2639479C>T	ENSP00000370223:p.Arg359Gln		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D	p.R359Q	ENST00000380843.4	37	c.1076	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391892	0.42410	0.0	1.16E-4	ENSG00000101365	ENST00000380843;ENST00000435594	T	0.56941	0.43	4.74	2.82	0.32997	Isopropylmalate dehydrogenase-like domain (2);	0.120606	0.56097	D	0.000021	T	0.78773	0.4336	H	0.98199	4.17	0.58432	D	0.999999	D;D	0.63880	0.991;0.993	D;D	0.65573	0.918;0.936	T	0.80881	-0.1184	10	0.59425	D	0.04	-1.5054	9.0441	0.36336	0.0:0.8289:0.0:0.1711	.	207;359	O43837-3;O43837	.;IDH3B_HUMAN	Q	359;207	ENSP00000370223:R359Q	ENSP00000370223:R359Q	R	-	2	0	IDH3B	2587479	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.788000	0.47806	0.624000	0.30286	-0.482000	0.04802	CGG	rs151027738	IDH3B	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_D		0.542	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	0	0	0	49	49	46	0.00	0.00	C			2639479	-1	19	22	23	34	tier1	no_errors	ENST00000380843	ensembl	human	known	74_37	missense	44.19	38.60	SNP	1.000	T	19	23
TPTE	7179	genome.wustl.edu	37	21	10906904	10906904	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:10906904C>T	ENST00000361285.4	-	0	1986				TPTE_ENST00000342420.5_3'UTR|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_3'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGAGCTATACTTAATCGGAT	0.393													ENSG00000166157																																					0													124.0	110.0	115.0					21																	10906904		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.*1G>A	21.37:g.10906904C>T			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	R	SNP	-	NULL	ENST00000361285.4	37	NULL	CCDS13560.2	21																																																																																			-	TPTE	-	-		0.393	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	0	0	0	243	243	178	0.00	0.00	C			10906904	-1	37	19	219	106	tier1	no_errors	ENST00000415664	ensembl	human	known	74_37	rna	14.45	15.20	SNP	0.008	T	37	219
SOHLH2	54937	genome.wustl.edu	37	13	36748880	36748880	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:36748880G>A	ENST00000379881.3	-	7	856	c.768C>T	c.(766-768)atC>atT	p.I256I	SOHLH2_ENST00000554962.1_Silent_p.I333I|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.I333I	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	256					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CGGCTGGAGAGATTTTCTCCC	0.373													ENSG00000250709																																					0													61.0	66.0	65.0					13																	36748880		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.768C>T	13.37:g.36748880G>A			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.I333	ENST00000379881.3	37	c.999	CCDS9355.1	13																																																																																			-	CCDC169-SOHLH2	-	superfamily_bHLH_dom,smart_bHLH_dom		0.373	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	0	0	0	153	153	120	0.00	0.00	G	NM_017826		36748880	-1	41	18	72	87	tier1	no_errors	ENST00000511166	ensembl	human	known	74_37	silent	36.28	17.14	SNP	0.901	A	41	72
GPR113	165082	genome.wustl.edu	37	2	26532944	26532944	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:26532944G>A	ENST00000311519.1	-	13	3107	c.3108C>T	c.(3106-3108)tgC>tgT	p.C1036C	GPR113_ENST00000541401.1_Silent_p.C639C|GPR113_ENST00000421160.2_Silent_p.C967C|GPR113_ENST00000333478.6_Silent_p.C837C|GPR113_ENST00000459892.1_5'UTR	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1036					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCGCGGCAGAAGCGTT	0.607													ENSG00000173567																																					0													86.0	87.0	87.0					2																	26532944		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.3108C>T	2.37:g.26532944G>A			B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.C837	ENST00000311519.1	37	c.2511	CCDS46239.1	2																																																																																			-	GPR113	-	NULL		0.607	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	0	0	0	41	41	44	0.00	0.00	G	NM_153835		26532944	-1	32	19	21	25	tier1	no_errors	ENST00000333478	ensembl	human	known	74_37	silent	60.38	43.18	SNP	0.801	A	32	21
RASEF	158158	genome.wustl.edu	37	9	85597673	85597673	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:85597673C>T	ENST00000376447.3	-	17	2402	c.2142G>A	c.(2140-2142)aaG>aaA	p.K714K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	714					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGCTGTCATCCTTGTCAGTTC	0.428													ENSG00000165105																																					0													344.0	314.0	324.0					9																	85597673		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2142G>A	9.37:g.85597673C>T			A6NC29|Q96N04	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.K714	ENST00000376447.3	37	c.2142	CCDS6662.1	9																																																																																			-	RASEF	-	smart_Ran_GTPase		0.428	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	0	0	0	82	82	93	0.00	0.00	C	NM_152573		85597673	-1	28	35	23	26	tier1	no_errors	ENST00000376447	ensembl	human	known	74_37	silent	54.90	57.38	SNP	0.982	T	28	23
FAM188B	84182	genome.wustl.edu	37	7	30911898	30911898	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:30911898G>A	ENST00000265299.6	+	14	1863	c.1786G>A	c.(1786-1788)Gga>Aga	p.G596R	AQP1_ENST00000509504.1_Missense_Mutation_p.G59R|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	596										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACCTGATTGGAGCACATGG	0.602													ENSG00000106125																																					0													53.0	56.0	55.0					7																	30911898		2022	4164	6186	SO:0001583	missense	0			-	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1786G>A	7.37:g.30911898G>A	ENSP00000265299:p.Gly596Arg		Q71AZ7|Q9H6D2	Missense_Mutation	SNP	NULL	p.G596R	ENST00000265299.6	37	c.1786	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570735	0.86542	.	.	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.33216	1.42;1.42	5.3	5.3	0.74995	.	0.108079	0.64402	D	0.000006	T	0.59865	0.2225	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66118	-0.6003	10	0.87932	D	0	-17.1996	14.4737	0.67533	0.0:0.0:1.0:0.0	.	116;596	B8ZZX1;Q4G0A6	.;F188B_HUMAN	R	596;116;59	ENSP00000265299:G596R;ENSP00000421315:G59R	ENSP00000265299:G596R	G	+	1	0	RP5-877J2.1;FAM188B	30878423	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.564000	0.90726	2.478000	0.83669	0.563000	0.77884	GGA	-	FAM188B	-	NULL		0.602	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	0	0	0	43	43	68	0.00	0.00	G	NM_032222		30911898	+1	11	12	48	52	tier1	no_errors	ENST00000265299	ensembl	human	known	74_37	missense	18.64	18.75	SNP	1.000	A	11	48
SLIT3	6586	genome.wustl.edu	37	5	168671750	168671750	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:168671750G>A	ENST00000519560.1	-	3	719	c.300C>T	c.(298-300)atC>atT	p.I100I	SLIT3_ENST00000332966.8_Silent_p.I100I|SLIT3_ENST00000521130.1_5'UTR|SLIT3_ENST00000404867.3_Silent_p.I100I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	100					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCCTCTCTCGATGACGCTGA	0.468													ENSG00000184347																									Ovarian(29;311 847 10864 17279 24903)												0													96.0	79.0	85.0					5																	168671750		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.300C>T	5.37:g.168671750G>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.I100	ENST00000519560.1	37	c.300	CCDS4369.1	5																																																																																			-	SLIT3	-	smart_Leu-rich_rpt_typical-subtyp		0.468	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	0	0	0	28	28	53	0.00	0.00	G	NM_003062		168671750	-1	10	13	11	13	tier1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	47.62	50.00	SNP	0.995	A	10	11
RDH13	112724	genome.wustl.edu	37	19	55568079	55568079	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55568079C>T	ENST00000415061.3	-	3	425	c.282G>A	c.(280-282)cgG>cgA	p.R94R	CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000396247.3_Silent_p.R23R	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	94					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.R94R(1)|p.R23R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	AGTCCAGGTGCCGGGCGTTGA	0.572													ENSG00000160439																																					2	Substitution - coding silent(2)	lung(2)											81.0	84.0	83.0					19																	55568079		2001	4178	6179	SO:0001819	synonymous_variant	0			-		CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.282G>A	19.37:g.55568079C>T			Q6UX79|Q96G88	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R94	ENST00000415061.3	37	c.282	CCDS54320.1	19																																																																																			-	RDH13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase		0.572	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	0	0	0	97	97	134	0.00	0.00	C	NM_138412		55568079	-1	37	53	52	59	tier1	no_errors	ENST00000415061	ensembl	human	known	74_37	silent	41.57	47.32	SNP	0.903	T	37	52
SEC14L5	9717	genome.wustl.edu	37	16	5053431	5053431	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:5053431G>A	ENST00000251170.7	+	11	1339	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	387	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AGACCTGGAGGGACTCAACAT	0.642													ENSG00000103184																																					0													41.0	48.0	46.0					16																	5053431		1936	4142	6078	SO:0001583	missense	0			-	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1159G>A	16.37:g.5053431G>A	ENSP00000251170:p.Gly387Arg			Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.G387R	ENST00000251170.7	37	c.1159	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788268	0.90367	.	.	ENSG00000103184	ENST00000251170	T	0.69926	-0.44	4.5	4.5	0.54988	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90470	0.4452	10	0.87932	D	0	-22.3211	17.3879	0.87422	0.0:0.0:1.0:0.0	.	387	O43304	S14L5_HUMAN	R	387	ENSP00000251170:G387R	ENSP00000251170:G387R	G	+	1	0	SEC14L5	4993432	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.920000	0.92779	2.341000	0.79615	0.555000	0.69702	GGA	-	SEC14L5	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.642	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	0	0	0	123	123	31	0.00	0.00	G			5053431	+1	55	5	87	18	tier1	no_errors	ENST00000251170	ensembl	human	known	74_37	missense	38.46	21.74	SNP	1.000	A	55	87
DNAH14	127602	genome.wustl.edu	37	1	225492739	225492739	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:225492739G>A	ENST00000445597.2	+	38	6715	c.6715G>A	c.(6715-6717)Gaa>Aaa	p.E2239K	DNAH14_ENST00000439375.2_Missense_Mutation_p.E2892K|DNAH14_ENST00000430092.1_Missense_Mutation_p.E2892K			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2239					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GCAATTTATGGAAACATTTGC	0.328													ENSG00000185842																																					0													40.0	35.0	37.0					1																	225492739		692	1591	2283	SO:0001583	missense	0			-	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.6715G>A	1.37:g.225492739G>A	ENSP00000409472:p.Glu2239Lys		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.E2892K	ENST00000445597.2	37	c.8674		1	.	.	.	.	.	.	.	.	.	.	G	7.185	0.590412	0.13812	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.35605	1.3;1.3;1.3	5.9	5.9	0.94986	.	0.357045	0.19231	N	0.119413	T	0.14098	0.0341	N	0.01761	-0.735	0.80722	D	1	B	0.24823	0.112	B	0.20955	0.032	T	0.26087	-1.0113	10	0.12430	T	0.62	.	11.1702	0.48567	0.0834:0.0:0.9166:0.0	.	2892	Q0VDD8-4	.	K	2239;2892;2892	ENSP00000409472:E2239K;ENSP00000414402:E2892K;ENSP00000392061:E2892K	ENSP00000414402:E2892K	E	+	1	0	DNAH14	223559362	0.999000	0.42202	0.989000	0.46669	0.308000	0.27856	2.339000	0.43965	2.799000	0.96334	0.508000	0.49915	GAA	-	DH14	-	superfamily_P-loop_NTPase		0.328	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DH14	HGNC	protein_coding	OTTHUMT00000331217.3	0	0	0	173	173	132	0.00	0.00	G	XM_059166		225492739	+1	26	28	100	78	tier1	no_errors	ENST00000430092	ensembl	human	known	74_37	missense	20.63	26.42	SNP	0.993	A	26	100
TNRC18	84629	genome.wustl.edu	37	7	5401627	5401627	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:5401627G>A	ENST00000430969.1	-	13	4781	c.4433C>T	c.(4432-4434)gCc>gTc	p.A1478V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A1478V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1478							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGCTCCAGGGCGTCCATGTC	0.657													ENSG00000182095																																					0													25.0	29.0	27.0					7																	5401627		2074	4193	6267	SO:0001583	missense	0			-	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4433C>T	7.37:g.5401627G>A	ENSP00000395538:p.Ala1478Val		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A1478V	ENST00000430969.1	37	c.4433	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.223134	0.95139	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.21734	2.53;2.53;1.99	5.52	5.52	0.82312	.	0.000000	0.44285	D	0.000477	T	0.47002	0.1422	M	0.77103	2.36	0.54753	D	0.999981	D	0.67145	0.996	P	0.60609	0.877	T	0.41251	-0.9519	10	0.48119	T	0.1	.	19.4381	0.94806	0.0:0.0:1.0:0.0	.	1478	O15417	TNC18_HUMAN	V	1478;1478;533;11	ENSP00000382452:A1478V;ENSP00000395538:A1478V;ENSP00000395990:A11V	ENSP00000382452:A1478V	A	-	2	0	TNRC18	5368153	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.735000	0.74806	2.606000	0.88127	0.561000	0.74099	GCC	-	TNRC18	-	NULL		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		0	0	0	53	53	43	0.00	0.00	G			5401627	-1	22	6	61	30	tier1	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	26.51	16.67	SNP	1.000	A	22	61
SCN3A	6328	genome.wustl.edu	37	2	165984416	165984416	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:165984416G>A	ENST00000360093.3	-	18	3609	c.3118C>T	c.(3118-3120)Cat>Tat	p.H1040Y	SCN3A_ENST00000409101.3_Missense_Mutation_p.H991Y|SCN3A_ENST00000283254.7_Missense_Mutation_p.H1040Y	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1040					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCCTTCATGGATTTCTATA	0.363													ENSG00000153253																																					0													96.0	99.0	98.0					2																	165984416		2203	4300	6503	SO:0001583	missense	0			-	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3118C>T	2.37:g.165984416G>A	ENSP00000353206:p.His1040Tyr		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.H1040Y	ENST00000360093.3	37	c.3118		2	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069111	0.36470	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	6.04	5.11	0.69529	Sodium ion transport-associated (1);	0.830523	0.10549	N	0.661755	T	0.69441	0.3111	N	0.03608	-0.345	0.80722	D	1	B;B;B;B;B	0.22414	0.022;0.002;0.001;0.001;0.069	B;B;B;B;B	0.14023	0.007;0.01;0.008;0.008;0.01	T	0.62572	-0.6826	10	0.62326	D	0.03	.	16.8276	0.85935	0.0:0.1283:0.8717:0.0	.	1040;991;991;991;1040	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Y	1040;1040;991;991	ENSP00000353206:H1040Y;ENSP00000283254:H1040Y;ENSP00000386726:H991Y;ENSP00000403348:H991Y	ENSP00000283254:H1040Y	H	-	1	0	SCN3A	165692662	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	6.804000	0.75186	2.873000	0.98535	0.561000	0.74099	CAT	-	SCN3A	-	pfam_Na_trans_assoc		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		0	0	0	56	56	81	0.00	0.00	G	NM_006922		165984416	-1	22	22	26	62	tier1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	45.83	26.19	SNP	1.000	A	22	26
SNCAIP	9627	genome.wustl.edu	37	5	121779348	121779348	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:121779348C>T	ENST00000261368.8	+	8	1684				CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379533.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.S549F|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Intron|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000542191.1_Intron|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein						cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ccccctatctcttctgggctg	0.473													ENSG00000064692																																					0																																										SO:0001627	intron_variant	0			-	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1423-910C>T	5.37:g.121779348C>T			D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S549F	ENST00000261368.8	37	c.1646	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	9.121	1.008901	0.19199	.	.	ENSG00000064692	ENST00000503116	T	0.02158	4.42	4.14	1.13	0.20643	.	.	.	.	.	T	0.02970	0.0088	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44174	-0.9345	6	0.62326	D	0.03	.	4.4756	0.11733	0.4107:0.4791:0.0:0.1102	.	.	.	.	F	549	ENSP00000423199:S549F	ENSP00000378852:S549F	S	+	2	0	SNCAIP	121807247	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	0.378000	0.20569	0.220000	0.20860	0.655000	0.94253	TCT	-	SNCAIP	-	NULL		0.473	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	0	0	0	106	106	132	0.00	0.00	C			121779348	+1	37	56	37	36	tier1	no_errors	ENST00000395469	ensembl	human	known	74_37	missense	50.00	60.87	SNP	0.000	T	37	37
CCR4	1233	genome.wustl.edu	37	3	32995835	32995835	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:32995835G>A	ENST00000330953.5	+	2	1089	c.921G>A	c.(919-921)ctG>ctA	p.L307L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	307					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ACTTTTTTCTGGGGGAGAAAT	0.468													ENSG00000183813																																					0													64.0	68.0	67.0					3																	32995835		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.921G>A	3.37:g.32995835G>A			Q9ULY6|Q9ULY7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.L307	ENST00000330953.5	37	c.921	CCDS2656.1	3																																																																																			-	CCR4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	0	0	0	44	44	115	0.00	0.00	G			32995835	+1	10	65	32	76	tier1	no_errors	ENST00000330953	ensembl	human	known	74_37	silent	23.81	46.10	SNP	0.989	A	10	32
TRAF6	7189	genome.wustl.edu	37	11	36511818	36511818	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:36511818A>T	ENST00000526995.1	-	7	1385	c.1139T>A	c.(1138-1140)tTc>tAc	p.F380Y	TRAF6_ENST00000348124.5_Missense_Mutation_p.F380Y|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	380	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCCAGTGTAGAATCCAGGGCT	0.443													ENSG00000175104																																					0													118.0	117.0	117.0					11																	36511818		2202	4298	6500	SO:0001583	missense	0			-		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1139T>A	11.37:g.36511818A>T	ENSP00000433623:p.Phe380Tyr		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.F380Y	ENST00000526995.1	37	c.1139	CCDS7901.1	11	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866153	0.91511	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.50001	0.76;0.76	5.35	5.35	0.76521	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83650	0.0155	10	0.87932	D	0	-21.8257	15.6115	0.76721	1.0:0.0:0.0:0.0	.	380	Q9Y4K3	TRAF6_HUMAN	Y	380	ENSP00000433623:F380Y;ENSP00000337853:F380Y	ENSP00000337853:F380Y	F	-	2	0	TRAF6	36468394	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.283000	0.95860	2.146000	0.66826	0.454000	0.30748	TTC	-	TRAF6	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.443	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	HGNC	protein_coding	OTTHUMT00000389530.1	0	0	0	72	72	147	0.00	0.00	A	NM_145803		36511818	-1	10	16	55	105	tier1	no_errors	ENST00000348124	ensembl	human	known	74_37	missense	15.38	13.22	SNP	1.000	T	10	55
FCRL5	83416	genome.wustl.edu	37	1	157514756	157514756	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:157514756G>A	ENST00000361835.3	-	4	581	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	FCRL5_ENST00000368189.3_Silent_p.L142L|FCRL5_ENST00000368190.3_Silent_p.L142L|FCRL5_ENST00000368191.3_Silent_p.L57L|FCRL5_ENST00000356953.4_Silent_p.L142L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	142					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGAATGCCAGGACATTATCA	0.423													ENSG00000143297																																					0													140.0	133.0	136.0					1																	157514756		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.424C>T	1.37:g.157514756G>A			A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L142	ENST00000361835.3	37	c.424	CCDS1165.1	1																																																																																			-	FCRL5	-	smart_Ig_sub,smart_Ig_sub2		0.423	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	0	0	0	73	73	106	0.00	0.00	G	NM_031281		157514756	-1	21	22	40	49	tier1	no_errors	ENST00000356953	ensembl	human	known	74_37	silent	34.43	30.99	SNP	0.003	A	21	40
FGF10	2255	genome.wustl.edu	37	5	44305142	44305142	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:44305142C>T	ENST00000264664.4	-	3	696	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	194					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGGTGTTTTTCCTTCGTGTTT	0.438													ENSG00000070193																																					0													289.0	249.0	263.0					5																	44305142		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.582G>A	5.37:g.44305142C>T			C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R194	ENST00000264664.4	37	c.582	CCDS3950.1	5																																																																																			-	FGF10	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.438	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF10	HGNC	protein_coding	OTTHUMT00000253845.2	0	0	0	101	101	118	0.00	0.00	C	NM_004465		44305142	-1	39	48	64	63	tier1	no_errors	ENST00000264664	ensembl	human	known	74_37	silent	37.86	43.24	SNP	1.000	T	39	64
DHX29	54505	genome.wustl.edu	37	5	54593193	54593193	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:54593193T>A	ENST00000251636.5	-	3	443	c.295A>T	c.(295-297)Att>Ttt	p.I99F	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	99						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATCACTCCAATAATTCTTTGC	0.294													ENSG00000067248																																					0													137.0	128.0	131.0					5																	54593193		2201	4300	6501	SO:0001583	missense	0			-	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.295A>T	5.37:g.54593193T>A	ENSP00000251636:p.Ile99Phe		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I99F	ENST00000251636.5	37	c.295	CCDS34158.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.982415|3.982415	0.74474|0.74474	.|.	.|.	ENSG00000067248|ENSG00000067248	ENST00000251636|ENST00000508346	T|.	0.45668|.	0.89|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.046228|.	0.85682|.	D|.	0.000000|.	T|T	0.70527|0.70527	0.3234|0.3234	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.60789|.	0.879|.	T|T	0.69232|0.69232	-0.5199|-0.5199	10|5	0.42905|.	T|.	0.14|.	.|.	15.4773|15.4773	0.75493|0.75493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	99|.	Q7Z478|.	DHX29_HUMAN|.	F|F	99|63	ENSP00000251636:I99F|.	ENSP00000251636:I99F|.	I|Y	-|-	1|2	0|0	DHX29|DHX29	54628950|54628950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.998000|6.998000	0.76277|0.76277	2.133000|2.133000	0.65898|0.65898	0.482000|0.482000	0.46254|0.46254	ATT|TAT	-	DHX29	-	NULL		0.294	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	0	0	0	118	118	102	0.00	0.00	T	NM_019030		54593193	-1	34	38	26	29	tier1	no_errors	ENST00000251636	ensembl	human	known	74_37	missense	56.67	56.72	SNP	1.000	A	34	26
FOXM1	2305	genome.wustl.edu	37	12	2968197	2968197	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:2968197C>T	ENST00000359843.3	-	9	1967	c.1899G>A	c.(1897-1899)ggG>ggA	p.G633G	FOXM1_ENST00000342628.2_Silent_p.G671G|ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Silent_p.G618G|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	633					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AATCCAGTCCCCCTACTTTGG	0.602													ENSG00000111206																																					0													51.0	61.0	57.0					12																	2968197		2201	4300	6501	SO:0001819	synonymous_variant	0			-	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1899G>A	12.37:g.2968197C>T			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G671	ENST00000359843.3	37	c.2013	CCDS8515.1	12																																																																																			-	FOXM1	-	NULL		0.602	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	0	0	0	84	84	26	0.00	0.00	C	NM_021953		2968197	-1	21	3	31	16	tier1	no_errors	ENST00000342628	ensembl	human	known	74_37	silent	40.38	15.79	SNP	0.000	T	21	31
SRC	6714	genome.wustl.edu	37	20	36031954	36031954	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:36031954G>A	ENST00000373578.2	+	0	2132				SRC_ENST00000373558.2_3'UTR|SRC_ENST00000445403.1_3'UTR|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000360723.4_3'UTR|SRC_ENST00000373567.2_3'UTR|SRC_ENST00000358208.4_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TGGACCTAGGGTGGCCTGAGA	0.652													ENSG00000197122																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.*172G>A	20.37:g.36031954G>A			E1P5V4|Q76P87|Q86VB9|Q9H5A8	R	SNP	-	NULL	ENST00000373578.2	37	NULL	CCDS13294.1	20																																																																																			-	SRC	-	-		0.652	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	0	0	0	13	13	65	0.00	0.00	G	NM_005417		36031954	+1	8	21	18	45	tier1	no_errors	ENST00000477066	ensembl	human	known	74_37	rna	30.77	31.82	SNP	0.000	A	8	18
CYLC2	1539	genome.wustl.edu	37	9	105767566	105767566	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:105767566A>G	ENST00000374798.3	+	5	723	c.653A>G	c.(652-654)aAa>aGa	p.K218R	CYLC2_ENST00000487798.1_Missense_Mutation_p.K218R	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	218	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAGATAGCAAAAAAGGTAAA	0.358													ENSG00000155833																																					0													80.0	77.0	78.0					9																	105767566		2203	4300	6503	SO:0001583	missense	0			-	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.653A>G	9.37:g.105767566A>G	ENSP00000420256:p.Lys218Arg		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.K218R	ENST00000374798.3	37	c.653	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844517	0.32606	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.18810	2.19;2.19	4.6	3.45	0.39498	.	0.640832	0.13224	N	0.404126	T	0.25754	0.0627	M	0.74647	2.275	0.09310	N	1	P	0.40731	0.728	B	0.39217	0.294	T	0.14671	-1.0464	10	0.66056	D	0.02	-0.3806	8.58	0.33623	0.9073:0.0:0.0927:0.0	.	218	Q14093	CYLC2_HUMAN	R	218	ENSP00000420256:K218R;ENSP00000417674:K218R	ENSP00000420256:K218R	K	+	2	0	CYLC2	104807387	0.037000	0.19845	0.001000	0.08648	0.002000	0.02628	2.119000	0.41958	0.895000	0.36342	0.477000	0.44152	AAA	-	CYLC2	-	NULL		0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	0	0	0	73	73	141	0.00	0.00	A	NM_001340		105767566	+1	30	60	25	39	tier1	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	54.55	60.61	SNP	0.002	G	30	25
TPTE	7179	genome.wustl.edu	37	21	10916378	10916378	+	Missense_Mutation	SNP	G	G	A	rs570468666		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:10916378G>A	ENST00000361285.4	-	20	1597	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	TPTE_ENST00000342420.5_Missense_Mutation_p.S385L|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Missense_Mutation_p.S405L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	423	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S405L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACGAGGAATCGAATAAATAAT	0.388													ENSG00000166157	.|||	1	0.000199681	0.0008	0.0	5008	,	,		47548	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	large_intestine(2)																																								SO:0001583	missense	0			-	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1268C>T	21.37:g.10916378G>A	ENSP00000355208:p.Ser423Leu		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S423L	ENST00000361285.4	37	c.1268	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374557	0.42105	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86562	-2.14;-2.14;-2.14	1.79	1.79	0.24919	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062472	0.64402	D	0.000003	D	0.90892	0.7138	M	0.81942	2.565	0.46028	D	0.998829	D;D;D	0.71674	0.998;0.998;0.978	D;D;P	0.65323	0.934;0.934;0.739	D	0.89728	0.3924	10	0.62326	D	0.03	-4.5869	7.1115	0.25392	0.0:0.0:1.0:0.0	.	385;405;423	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	405;423;385	ENSP00000298232:S405L;ENSP00000355208:S423L;ENSP00000344441:S385L	ENSP00000298232:S405L	S	-	2	0	TPTE	9938249	0.992000	0.36948	0.708000	0.30435	0.064000	0.16182	2.621000	0.46418	1.313000	0.45069	0.184000	0.17185	TCG	-	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	0	0	0	471	471	51	0.00	0.00	G			10916378	-1	68	11	475	48	tier1	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	12.52	18.64	SNP	0.790	A	68	475
ENTHD1	150350	genome.wustl.edu	37	22	40139967	40139967	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:40139967C>T	ENST00000325157.6	-	7	1791	c.1541G>A	c.(1540-1542)gGg>gAg	p.G514E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	514										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGAAAACTCCCCCCAGTGACT	0.418													ENSG00000176177																																					0													51.0	52.0	51.0					22																	40139967		2203	4300	6503	SO:0001583	missense	0			-	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1541G>A	22.37:g.40139967C>T	ENSP00000317431:p.Gly514Glu		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.G514E	ENST00000325157.6	37	c.1541	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	4.201	0.036103	0.08148	.	.	ENSG00000176177	ENST00000325157	T	0.29655	1.56	5.75	-1.57	0.08506	.	1.128550	0.06851	N	0.797411	T	0.11707	0.0285	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20974	-1.0259	10	0.51188	T	0.08	0.375	1.2976	0.02073	0.3896:0.2713:0.2165:0.1226	.	514	Q8IYW4	ENTD1_HUMAN	E	514	ENSP00000317431:G514E	ENSP00000317431:G514E	G	-	2	0	ENTHD1	38469913	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.085000	0.11250	-0.732000	0.04856	-0.271000	0.10264	GGG	-	ENTHD1	-	NULL		0.418	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	0	0	0	66	66	134	0.00	0.00	C	NM_152512		40139967	-1	31	42	35	83	tier1	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	46.97	33.60	SNP	0.000	T	31	35
SNAP25	6616	genome.wustl.edu	37	20	10280021	10280021	+	Silent	SNP	C	C	T	rs372122045		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:10280021C>T	ENST00000254976.2	+	7	724	c.513C>T	c.(511-513)atC>atT	p.I171I	SNAP25_ENST00000304886.2_Silent_p.I171I|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	171	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.I171I(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCAATGAGATCGATACACAGA	0.507													ENSG00000132639																																					2	Substitution - coding silent(2)	lung(2)						C	,	0,4406		0,0,2203	107.0	96.0	99.0		513,513	-5.6	0.9	20		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SNAP25	NM_003081.3,NM_130811.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	171/207,171/207	10280021	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.513C>T	20.37:g.10280021C>T			B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP	pfam_T_SRE_dom,pfam_SP-25,superfamily_t-SRE,smart_T_SRE_dom,pfscan_T_SRE_dom	p.I171	ENST00000254976.2	37	c.513	CCDS13110.1	20																																																																																			-	SP25	-	pfam_T_SRE_dom,smart_T_SRE_dom,pfscan_T_SRE_dom		0.507	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP25	HGNC	protein_coding	OTTHUMT00000077976.3	0	0	0	43	43	63	0.00	0.00	C	NM_130811		10280021	+1	32	25	57	46	tier1	no_errors	ENST00000254976	ensembl	human	known	74_37	silent	35.96	35.21	SNP	0.927	T	32	57
PCLO	27445	genome.wustl.edu	37	7	82584459	82584459	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:82584459C>T	ENST00000333891.9	-	5	6147	c.5810G>A	c.(5809-5811)cGa>cAa	p.R1937Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R1937Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTTCATCTCGTTCATTTGC	0.363													ENSG00000186472																																					0													61.0	59.0	60.0					7																	82584459		1857	4087	5944	SO:0001583	missense	0			-	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5810G>A	7.37:g.82584459C>T	ENSP00000334319:p.Arg1937Gln			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R1937Q	ENST00000333891.9	37	c.5810	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246977	0.22796	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15952	2.38;2.38	5.57	3.53	0.40419	.	.	.	.	.	T	0.11196	0.0273	L	0.36672	1.1	0.80722	D	1	B;B	0.29253	0.239;0.239	B;B	0.18263	0.021;0.021	T	0.12837	-1.0532	9	0.87932	D	0	.	4.2182	0.10545	0.0:0.534:0.0:0.466	.	1937;1937	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1868;1937;1937	ENSP00000334319:R1937Q;ENSP00000388393:R1937Q	ENSP00000334319:R1937Q	R	-	2	0	PCLO	82422395	0.962000	0.33011	0.998000	0.56505	0.948000	0.59901	1.169000	0.31871	1.360000	0.45960	0.655000	0.94253	CGA	-	PCLO	-	NULL		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0	0	97	97	136	0.00	0.00	C	NM_014510		82584459	-1	11	29	36	95	tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	23.40	23.39	SNP	0.997	T	11	36
CLN3	1201	genome.wustl.edu	37	16	28502882	28502882	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:28502882C>T	ENST00000569430.1	-	4	866		c.e4-1		CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000565316.1_Splice_Site|CLN3_ENST00000354630.5_Splice_Site|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000567963.1_Splice_Site|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000359984.7_Splice_Site|CLN3_ENST00000333496.9_Splice_Site|CLN3_ENST00000357076.5_Splice_Site|CLN3_ENST00000395653.4_Intron|CLN3_ENST00000355477.5_Splice_Site|CLN3_ENST00000360019.2_Splice_Site|CLN3_ENST00000357806.7_Splice_Site			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3						action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTCTCCTCCCCTGGGAGAGCG	0.657											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000188603																																					0													27.0	29.0	28.0					16																	28502882		2197	4300	6497	SO:0001630	splice_region_variant	0			-	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.47-1G>A	16.37:g.28502882C>T		802	B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Splice_Site	SNP	-	e2-1	ENST00000569430.1	37	c.47-1	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169423	0.57584	.	.	ENSG00000188603	ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000333496;ENST00000357806;ENST00000357076	.	.	.	5.33	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1595	0.42842	0.0:0.9079:0.0:0.0921	.	.	.	.	.	-1	.	.	.	-	.	.	CLN3	28410383	0.991000	0.36638	0.972000	0.41901	0.629000	0.37895	3.469000	0.53093	1.421000	0.47157	0.651000	0.88453	.	-	CLN3	-	-		0.657	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2	0	0	0	56	56	16	0.00	0.00	C		Intron	28502882	-1	31	11	33	17	tier1	no_errors	ENST00000359984	ensembl	human	known	74_37	splice_site	47.69	39.29	SNP	0.991	T	31	33
GLRA3	8001	genome.wustl.edu	37	4	175649663	175649663	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:175649663T>C	ENST00000274093.3	-	4	956	c.454A>G	c.(454-456)Aga>Gga	p.R152G	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.R152G	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	152					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTGAAAATTCTTAGCAATTTG	0.373													ENSG00000145451																																					0													96.0	95.0	95.0					4																	175649663		2203	4300	6503	SO:0001583	missense	0			-	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.454A>G	4.37:g.175649663T>C	ENSP00000274093:p.Arg152Gly		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.R152G	ENST00000274093.3	37	c.454	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	T	17.04	3.288481	0.59976	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.79352	-1.26;-1.26	4.65	3.44	0.39384	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	M	0.93594	3.435	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.90431	0.4424	10	0.87932	D	0	.	11.1032	0.48188	0.0:0.0:0.2945:0.7055	.	152;152	O75311-2;O75311	.;GLRA3_HUMAN	G	152	ENSP00000274093:R152G;ENSP00000345284:R152G	ENSP00000274093:R152G	R	-	1	2	GLRA3	175886238	0.671000	0.27521	1.000000	0.80357	0.923000	0.55619	0.409000	0.21082	0.724000	0.32296	0.455000	0.32223	AGA	-	GLRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.373	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	1	1	0	102	102	83	0.97	0.00	T			175649663	-1	30	50	22	25	tier1	no_errors	ENST00000274093	ensembl	human	known	74_37	missense	56.60	66.67	SNP	0.996	C	30	22
ABRA	137735	genome.wustl.edu	37	8	107782101	107782101	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:107782101C>T	ENST00000311955.3	-	1	372	c.318G>A	c.(316-318)aaG>aaA	p.K106K		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ACACCTCTTTCTTTTTGATGT	0.542													ENSG00000174429																																					0													124.0	121.0	122.0					8																	107782101		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.318G>A	8.37:g.107782101C>T				Silent	SNP	NULL	p.K106	ENST00000311955.3	37	c.318	CCDS6305.1	8																																																																																			-	ABRA	-	NULL		0.542	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	0	0	0	73	73	113	0.00	0.00	C	NM_139166		107782101	-1	30	36	44	38	tier1	no_errors	ENST00000311955	ensembl	human	known	74_37	silent	39.47	48.65	SNP	1.000	T	30	44
CDH11	1009	genome.wustl.edu	37	16	64982569	64982569	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:64982569G>A	ENST00000268603.4	-	13	2510				CDH11_ENST00000394156.3_Silent_p.V672V|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTTTTATAAAGACCCCCAGAA	0.423			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			ENSG00000140937																												Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													27.0	26.0	26.0					16																	64982569		876	1991	2867	SO:0001627	intron_variant	0			-	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1895-567C>T	16.37:g.64982569G>A			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V672	ENST00000268603.4	37	c.2016	CCDS10803.1	16																																																																																			-	CDH11	-	NULL		0.423	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	1	1	0	160	160	117	0.62	0.00	G	NM_033664		64982569	-1	56	25	86	61	tier1	no_errors	ENST00000394156	ensembl	human	known	74_37	silent	39.44	29.07	SNP	0.000	A	56	86
KLHL13	90293	genome.wustl.edu	37	X	117079473	117079473	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:117079473G>A	ENST00000262820.3	-	2	1073	c.164C>T	c.(163-165)tCa>tTa	p.S55L	KLHL13_ENST00000540167.1_Missense_Mutation_p.S39L|KLHL13_ENST00000371876.1_Missense_Mutation_p.S4L|KLHL13_ENST00000469946.1_Missense_Mutation_p.S4L|KLHL13_ENST00000541812.1_Missense_Mutation_p.S39L|KLHL13_ENST00000539496.1_Missense_Mutation_p.S58L|KLHL13_ENST00000371882.1_Missense_Mutation_p.S4L|KLHL13_ENST00000545703.1_Missense_Mutation_p.S13L|KLHL13_ENST00000371878.1_Missense_Mutation_p.S4L	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	55					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATGGGATGAGAGGCCCAT	0.443													ENSG00000003096																																					0													106.0	86.0	93.0					X																	117079473		2203	4300	6503	SO:0001583	missense	0			-	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.164C>T	X.37:g.117079473G>A	ENSP00000262820:p.Ser55Leu		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S58L	ENST00000262820.3	37	c.173	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913791	0.72983	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946;ENST00000453826	T;T;T;T;T;T;T;T;T;T	0.71461	-0.53;-0.53;-0.53;-0.53;-0.5;-0.5;-0.57;-0.57;-0.55;-0.53	5.09	5.09	0.68999	.	0.115617	0.64402	D	0.000011	T	0.53190	0.1781	N	0.08118	0	0.58432	D	0.999999	B;B;B;B	0.26809	0.069;0.16;0.16;0.084	B;B;B;B	0.24155	0.025;0.051;0.025;0.031	T	0.56492	-0.7970	10	0.59425	D	0.04	.	16.4339	0.83864	0.0:0.0:1.0:0.0	.	39;58;49;55	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	L	4;4;4;4;39;39;58;55;13;4;4	ENSP00000360949:S4L;ENSP00000360943:S4L;ENSP00000360945:S4L;ENSP00000412640:S4L;ENSP00000444450:S39L;ENSP00000441029:S39L;ENSP00000443191:S58L;ENSP00000262820:S55L;ENSP00000440707:S13L;ENSP00000419803:S4L	ENSP00000262820:S55L	S	-	2	0	KLHL13	116963501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.740000	0.91579	2.490000	0.84030	0.594000	0.82650	TCA	-	KLHL13	-	pirsf_Kelch-like_gigaxonin		0.443	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		0	0	0	37	37	38	0.00	0.00	G	NM_033495		117079473	-1	27	34	10	16	tier1	no_errors	ENST00000539496	ensembl	human	known	74_37	missense	72.97	68.00	SNP	1.000	A	27	10
PAXIP1	22976	genome.wustl.edu	37	7	154751628	154751628	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:154751628G>A	ENST00000404141.1	-	13	2604	c.2450C>T	c.(2449-2451)cCc>cTc	p.P817L	PAXIP1_ENST00000473219.1_5'UTR|RP11-5C23.2_ENST00000609134.1_RNA|PAXIP1_ENST00000397192.1_Missense_Mutation_p.P817L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	817	Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CACTTTTAAGGGAACTCTCCA	0.323													ENSG00000157212																																					0													127.0	125.0	125.0					7																	154751628		1826	4082	5908	SO:0001583	missense	0			-	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2450C>T	7.37:g.154751628G>A	ENSP00000384048:p.Pro817Leu		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P817L	ENST00000404141.1	37	c.2450	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370492	0.61624	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.38401	1.14;1.14	4.81	4.81	0.61882	.	0.000000	0.52532	U	0.000073	T	0.61135	0.2323	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.982	D;D;P	0.91635	0.987;0.999;0.781	T	0.66488	-0.5911	10	0.87932	D	0	-23.3774	17.9072	0.88921	0.0:0.0:1.0:0.0	.	770;783;817	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	L	817;817;641;770	ENSP00000384048:P817L;ENSP00000380376:P817L	ENSP00000319149:P770L	P	-	2	0	PAXIP1	154382561	1.000000	0.71417	0.431000	0.26735	0.976000	0.68499	7.645000	0.83430	2.226000	0.72624	0.650000	0.86243	CCC	-	PAXIP1	-	NULL		0.323	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	0	0	0	90	90	128	0.00	0.00	G	NM_007349		154751628	-1	17	24	54	49	tier1	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	23.94	32.88	SNP	0.993	A	17	54
URAD	646625	genome.wustl.edu	37	13	28562733	28562733	+	Silent	SNP	G	G	A	rs267603794		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:28562733G>A	ENST00000332715.5	-	1	58	c.42C>T	c.(40-42)ttC>ttT	p.F14F	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	14					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										ACACATCCACGAATTCTCCAA	0.512													ENSG00000183463																																					0													103.0	109.0	107.0					13																	28562733		2101	4222	6323	SO:0001819	synonymous_variant	0			-		CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	615804	"""parahox cluster neighbor"""	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.42C>T	13.37:g.28562733G>A				Silent	SNP	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1	p.F14	ENST00000332715.5	37	c.42	CCDS45020.1	13																																																																																			-	URAD	-	pfam_OHCU_decarboxylase,tigrfam_OHCU_decarboxylase-1		0.512	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	URAD	HGNC	protein_coding	OTTHUMT00000472432.1	0	0	0	102	102	111	0.00	0.00	G			28562733	-1	25	13	50	35	tier1	no_errors	ENST00000332715	ensembl	human	known	74_37	silent	33.33	26.53	SNP	0.666	A	25	50
DSCAM	1826	genome.wustl.edu	37	21	41416186	41416186	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:41416186C>T	ENST00000400454.1	-	31	5679	c.5202G>A	c.(5200-5202)agG>agA	p.R1734R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1734					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)				CCTTGGCATTCCTCCTGGTGG	0.592													ENSG00000171587																									Melanoma(134;970 1778 1785 21664 32388)												0													68.0	75.0	73.0					21																	41416186		2131	4237	6368	SO:0001819	synonymous_variant	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.5202G>A	21.37:g.41416186C>T			O60468	Silent	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.R1734	ENST00000400454.1	37	c.5202	CCDS42929.1	21																																																																																			-	DSCAM	-	NULL		0.592	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	0	0	0	46	46	85	0.00	0.00	C	NM_001389		41416186	-1	12	21	26	35	tier1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	31.58	37.50	SNP	1.000	T	12	26
IL1RL2	8808	genome.wustl.edu	37	2	102805732	102805732	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:102805732G>A	ENST00000264257.2	+	3	381	c.255G>A	c.(253-255)atG>atA	p.M85I	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.M85I|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	85	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTCTCCCCATGGAATGGGGGG	0.353													ENSG00000115598																																					0													50.0	50.0	50.0					2																	102805732		2203	4300	6503	SO:0001583	missense	0			-	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.255G>A	2.37:g.102805732G>A	ENSP00000264257:p.Met85Ile		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.M85I	ENST00000264257.2	37	c.255	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	G	7.111	0.575930	0.13623	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.10382	2.88;2.88;2.88	5.86	1.98	0.26296	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.399430	0.04273	N	0.342510	T	0.04815	0.0130	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31916	-0.9926	10	0.48119	T	0.1	.	5.1772	0.15141	0.16:0.0:0.5911:0.2488	.	85	Q9HB29	ILRL2_HUMAN	I	85	ENSP00000264257:M85I;ENSP00000387611:M85I;ENSP00000442184:M85I	ENSP00000264257:M85I	M	+	3	0	IL1RL2	102172164	0.303000	0.24463	0.003000	0.11579	0.001000	0.01503	1.571000	0.36450	0.449000	0.26747	-1.099000	0.02127	ATG	-	IL1RL2	-	smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ		0.353	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	0	0	0	109	109	129	0.00	0.00	G	NM_003854		102805732	+1	29	32	42	60	tier1	no_errors	ENST00000264257	ensembl	human	known	74_37	missense	40.85	34.41	SNP	0.004	A	29	42
FAM83B	222584	genome.wustl.edu	37	6	54806428	54806428	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:54806428C>T	ENST00000306858.7	+	5	2775	c.2659C>T	c.(2659-2661)Cca>Tca	p.P887S	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	887										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGCCTCTGCCCCAAGATTTAA	0.443													ENSG00000168143																																					0													74.0	71.0	72.0					6																	54806428		2203	4300	6503	SO:0001583	missense	0			-	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2659C>T	6.37:g.54806428C>T	ENSP00000304078:p.Pro887Ser		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.P887S	ENST00000306858.7	37	c.2659	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835857	0.71373	.	.	ENSG00000168143	ENST00000306858	T	0.36878	1.23	5.63	5.63	0.86233	.	0.076606	0.56097	D	0.000038	T	0.56187	0.1968	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.58482	-0.7629	10	0.72032	D	0.01	-21.1392	19.6772	0.95941	0.0:1.0:0.0:0.0	.	887	Q5T0W9	FA83B_HUMAN	S	887	ENSP00000304078:P887S	ENSP00000304078:P887S	P	+	1	0	FAM83B	54914387	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.297000	0.72757	2.656000	0.90262	0.655000	0.94253	CCA	-	FAM83B	-	NULL		0.443	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	0	0	0	80	80	103	0.00	0.00	C	XM_294139		54806428	+1	13	28	52	60	tier1	no_errors	ENST00000306858	ensembl	human	known	74_37	missense	20.00	31.46	SNP	1.000	T	13	52
RAP1GAP	5909	genome.wustl.edu	37	1	21938038	21938038	+	Silent	SNP	C	C	T	rs370166831		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:21938038C>T	ENST00000374765.4	-	13	950	c.750G>A	c.(748-750)acG>acA	p.T250T	RAP1GAP_ENST00000290101.4_Silent_p.T314T|RAP1GAP_ENST00000542643.2_Silent_p.T250T|RAP1GAP_ENST00000374763.2_Silent_p.T250T|RAP1GAP_ENST00000374761.2_Silent_p.T281T|RAP1GAP_ENST00000374757.3_5'Flank	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	250	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		ATTCGGTCCCCGTCTGCCCGT	0.657													ENSG00000076864																																					0								C	,,	0,4406		0,0,2203	124.0	104.0	111.0		750,942,750	2.2	1.0	1		111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	250/682,314/728,250/664	21938038	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.750G>A	1.37:g.21938038C>T			J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Silent	SNP	pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom	p.T314	ENST00000374765.4	37	c.942	CCDS218.1	1																																																																																			-	RAP1GAP	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.657	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2	0	0	0	45	45	81	0.00	0.00	C	NM_002885		21938038	-1	19	56	20	34	tier1	no_errors	ENST00000290101	ensembl	human	known	74_37	silent	48.72	62.22	SNP	1.000	T	19	20
ADCY10	55811	genome.wustl.edu	37	1	167806500	167806500	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:167806500G>A	ENST00000367851.4	-	22	3248	c.3064C>T	c.(3064-3066)Cct>Tct	p.P1022S	ADCY10_ENST00000545172.1_Missense_Mutation_p.P869S|ADCY10_ENST00000367848.1_Missense_Mutation_p.P930S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1022					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CGATTTTCAGGAAAAAATGCA	0.343													ENSG00000143199																																					0													100.0	102.0	101.0					1																	167806500		2203	4300	6503	SO:0001583	missense	0			-	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3064C>T	1.37:g.167806500G>A	ENSP00000356825:p.Pro1022Ser		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.P1022S	ENST00000367851.4	37	c.3064	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	2.736	-0.263279	0.05754	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.28255	1.62;1.63;1.62	4.85	-3.05	0.05396	.	0.763337	0.11947	N	0.514066	T	0.04724	0.0128	N	0.17674	0.51	0.28116	N	0.930793	B;B	0.14438	0.01;0.006	B;B	0.08055	0.003;0.001	T	0.41251	-0.9519	9	0.18710	T	0.47	-1.32	6.1746	0.20437	0.5594:0.145:0.2955:0.0	.	930;1022	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	S	869;1022;930	ENSP00000441992:P869S;ENSP00000356825:P1022S;ENSP00000356822:P930S	ENSP00000356822:P930S	P	-	1	0	ADCY10	166073124	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.441000	0.06879	-0.438000	0.07232	-0.251000	0.11542	CCT	-	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.343	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	0	0	0	55	55	85	0.00	0.00	G	NM_018417		167806500	-1	18	24	39	27	tier1	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	31.58	47.06	SNP	0.000	A	18	39
CCDC68	80323	genome.wustl.edu	37	18	52586600	52586600	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:52586600C>T	ENST00000591504.1	-	9	965	c.691G>A	c.(691-693)Gat>Aat	p.D231N	CCDC68_ENST00000337363.4_Missense_Mutation_p.D231N|CCDC68_ENST00000432185.1_Missense_Mutation_p.D231N	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	231										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		CTCTGAAGATCCTGGCAACTG	0.488													ENSG00000166510																																					0													85.0	85.0	85.0					18																	52586600		2203	4300	6503	SO:0001583	missense	0			-		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.691G>A	18.37:g.52586600C>T	ENSP00000466690:p.Asp231Asn		B2R9I3	Missense_Mutation	SNP	superfamily_Prefoldin	p.D231N	ENST00000591504.1	37	c.691	CCDS11959.1	18	.	.	.	.	.	.	.	.	.	.	C	4.575	0.106738	0.08780	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.17528	2.27;2.27	5.65	1.83	0.25207	.	0.354569	0.24117	N	0.041386	T	0.07503	0.0189	N	0.19112	0.55	0.25545	N	0.98715	B	0.10296	0.003	B	0.13407	0.009	T	0.34502	-0.9826	10	0.12103	T	0.63	-16.0116	2.2819	0.04116	0.1578:0.5234:0.1525:0.1663	.	231	Q9H2F9	CCD68_HUMAN	N	231	ENSP00000337209:D231N;ENSP00000413406:D231N	ENSP00000337209:D231N	D	-	1	0	CCDC68	50737598	0.997000	0.39634	0.990000	0.47175	0.052000	0.14988	0.660000	0.25009	0.300000	0.22699	-0.169000	0.13324	GAT	-	CCDC68	-	superfamily_Prefoldin		0.488	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC68	HGNC	protein_coding	OTTHUMT00000256006.1	0	0	0	38	38	147	0.00	0.00	C	NM_025214		52586600	-1	17	48	7	42	tier1	no_errors	ENST00000337363	ensembl	human	known	74_37	missense	70.83	53.33	SNP	0.992	T	17	7
OR9K2	441639	genome.wustl.edu	37	12	55524235	55524235	+	Missense_Mutation	SNP	C	C	T	rs368474784		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55524235C>T	ENST00000305377.5	+	1	771	c.683C>T	c.(682-684)tCa>tTa	p.S228L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTTTCCTTATCATGTATTATT	0.363													ENSG00000170605																																					0								C	LEU/SER	0,4406		0,0,2203	97.0	92.0	93.0		683	3.1	0.0	12		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR9K2	NM_001005243.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	228/336	55524235	1,13005	2203	4300	6503	SO:0001583	missense	0			-	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.683C>T	12.37:g.55524235C>T	ENSP00000307598:p.Ser228Leu		B9EH19|Q6IFD6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S228L	ENST00000305377.5	37	c.683	CCDS31814.1	12	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748559	0.15710	0.0	1.16E-4	ENSG00000170605	ENST00000305377	T	0.36878	1.23	4.98	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.131649	0.34268	N	0.004111	T	0.44074	0.1276	M	0.72576	2.205	0.09310	N	1	P	0.35307	0.494	B	0.43155	0.41	T	0.42766	-0.9432	10	0.87932	D	0	-9.8812	10.8528	0.46780	0.1277:0.3749:0.4975:0.0	.	228	Q8NGE7	OR9K2_HUMAN	L	228	ENSP00000307598:S228L	ENSP00000307598:S228L	S	+	2	0	OR9K2	53810502	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.417000	0.21214	0.789000	0.33779	0.650000	0.86243	TCA	-	OR9K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.363	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9K2	HGNC	protein_coding	OTTHUMT00000406105.1	0	0	0	29	29	62	0.00	0.00	C			55524235	+1	7	17	12	39	tier1	no_errors	ENST00000305377	ensembl	human	known	74_37	missense	36.84	30.36	SNP	0.000	T	7	12
TSHZ2	128553	genome.wustl.edu	37	20	51872433	51872433	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:51872433C>T	ENST00000371497.5	+	2	3323	c.2436C>T	c.(2434-2436)tcC>tcT	p.S812S	TSHZ2_ENST00000329613.6_Silent_p.S809S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.S809S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	812					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCCAGCCTCCTCCTCCAGGG	0.542													ENSG00000182463																																					0													83.0	79.0	80.0					20																	51872433		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2436C>T	20.37:g.51872433C>T			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S812	ENST00000371497.5	37	c.2436	CCDS33490.1	20																																																																																			-	TSHZ2	-	NULL		0.542	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	0	0	0	41	41	152	0.00	0.00	C	NM_173485		51872433	+1	23	49	77	117	tier1	no_errors	ENST00000371497	ensembl	human	known	74_37	silent	23.00	29.52	SNP	0.000	T	23	77
C11orf85	283129	genome.wustl.edu	37	11	64717234	64717234	+	Silent	SNP	G	G	A	rs200922605		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64717234G>A	ENST00000301896.5	-	6	403	c.330C>T	c.(328-330)ttC>ttT	p.F110F	C11orf85_ENST00000536065.1_Silent_p.F4F|C11orf85_ENST00000432175.1_Silent_p.F110F|C11orf85_ENST00000530444.1_Intron	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	110										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GGTTTTCATGGAACCATTTCA	0.438													ENSG00000168070																																					0													142.0	133.0	136.0					11																	64717234		2201	4297	6498	SO:0001819	synonymous_variant	0			-	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.330C>T	11.37:g.64717234G>A			B3KS99	Silent	SNP	NULL	p.F110	ENST00000301896.5	37	c.330	CCDS31603.1	11																																																																																			-	C11orf85	-	NULL		0.438	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf85	HGNC	protein_coding	OTTHUMT00000385477.1	0	0	0	86	86	112	0.00	0.00	G	NM_001037225		64717234	-1	22	36	47	71	tier1	no_errors	ENST00000301896	ensembl	human	known	74_37	silent	31.88	33.64	SNP	0.914	A	22	47
PPP1R9A	55607	genome.wustl.edu	37	7	94898568	94898568	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:94898568C>T	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000289495.5_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P936L|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P936L|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P958L			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTTCCACCTAAGGGTTTG	0.438										HNSCC(28;0.073)			ENSG00000158528																																					0													79.0	70.0	73.0					7																	94898568		1568	3581	5149	SO:0001627	intron_variant	0			-	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+549C>T	7.37:g.94898568C>T			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_Smac_DIABLO-like,smart_PDZ,pfscan_PDZ	p.P936L	ENST00000433881.1	37	c.2807	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623920	0.66901	.	.	ENSG00000158528	ENST00000433360;ENST00000424654;ENST00000456331	T;T;T	0.15603	2.42;2.41;2.41	4.42	4.42	0.53409	.	.	.	.	.	T	0.21718	0.0523	L	0.42245	1.32	0.30855	N	0.734119	P;P;P	0.48162	0.835;0.906;0.745	P;B;B	0.44990	0.466;0.36;0.276	T	0.05194	-1.0900	9	0.66056	D	0.02	.	16.4835	0.84171	0.0:1.0:0.0:0.0	.	958;936;936	E9PDX1;D6W5R0;E9PCK6	.;.;.	L	958;936;936	ENSP00000405514:P958L;ENSP00000411342:P936L;ENSP00000402893:P936L	ENSP00000411342:P936L	P	+	2	0	PPP1R9A	94736504	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	3.307000	0.51888	2.741000	0.93983	0.585000	0.79938	CCT	-	PPP1R9A	-	NULL		0.438	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	0	0	1	62	62	150	0.00	0.66	C	NM_001166160		94898568	+1	20	19	28	66	tier1	no_errors	ENST00000456331	ensembl	human	known	74_37	missense	41.67	22.35	SNP	1.000	T	20	28
CCR2	729230	genome.wustl.edu	37	3	46400105	46400105	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:46400105G>A	ENST00000400888.2	+	1	980				CCR2_ENST00000292301.4_Intron|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_3'UTR			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2						blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TTTATAAAACGAGGAGCAGTT	0.418													ENSG00000121807																																					0													52.0	50.0	51.0					3																	46400105		692	1591	2283	SO:0001627	intron_variant	0			-		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.941+146G>A	3.37:g.46400105G>A			A0AVQ3|B2RMT0|Q4VBL2	R	SNP	-	NULL	ENST00000400888.2	37	NULL	CCDS43078.1	3																																																																																			-	CCR2	-	-		0.418	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding	OTTHUMT00000344292.1	0	0	0	26	26	173	0.00	0.00	G	NM_000647		46400105	+1	14	54	19	73	tier1	no_errors	ENST00000465202	ensembl	human	putative	74_37	rna	42.42	41.86	SNP	0.000	A	14	19
FLVCR2	55640	genome.wustl.edu	37	14	76107368	76107368	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:76107368G>T	ENST00000238667.4	+	7	1662	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	FLVCR2_ENST00000555027.1_Missense_Mutation_p.G151C|FLVCR2_ENST00000539311.1_Missense_Mutation_p.G231C|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	436					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGAATCAGAAGGCATCTCCTC	0.502													ENSG00000119686																																					0													137.0	121.0	127.0					14																	76107368		2203	4300	6503	SO:0001583	missense	0			-	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1306G>T	14.37:g.76107368G>T	ENSP00000238667:p.Gly436Cys		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.G436C	ENST00000238667.4	37	c.1306	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932777	0.73442	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000554580;ENST00000555027	T;T;T;T;T	0.71579	-0.58;-0.58;-0.3;-0.3;-0.3	5.26	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.156139	0.64402	D	0.000016	T	0.82010	0.4944	M	0.89715	3.055	0.80722	D	1	P;P	0.52577	0.954;0.861	P;P	0.53006	0.715;0.667	D	0.85470	0.1172	10	0.72032	D	0.01	-11.8325	12.7598	0.57356	0.0811:0.0:0.9189:0.0	.	231;436	B7Z485;Q9UPI3	.;FLVC2_HUMAN	C	436;231;137;136;151	ENSP00000238667:G436C;ENSP00000443439:G231C;ENSP00000452584:G137C;ENSP00000451781:G136C;ENSP00000452453:G151C	ENSP00000238667:G436C	G	+	1	0	AC007182.1	75177121	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.405000	0.97313	1.219000	0.43474	-0.136000	0.14681	GGC	-	FLVCR2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.502	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	0	0	0	84	84	84	0.00	0.00	G	NM_017791		76107368	+1	30	25	45	38	tier1	no_errors	ENST00000238667	ensembl	human	known	74_37	missense	40.00	39.68	SNP	1.000	T	30	45
ERICH5	203111	genome.wustl.edu	37	8	99102153	99102153	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:99102153G>A	ENST00000318528.3	+	2	1267	c.908G>A	c.(907-909)gGa>gAa	p.G303E	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		303	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CAACCTGAAGGAATAGTTGGA	0.438													ENSG00000177459																																					0													117.0	105.0	109.0					8																	99102153		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000318528.3:c.908G>A	8.37:g.99102153G>A	ENSP00000315614:p.Gly303Glu		G3V1K4|Q8N1L8	Missense_Mutation	SNP	NULL	p.G303E	ENST00000318528.3	37	c.908	CCDS34929.1	8	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939398	0.18281	.	.	ENSG00000177459	ENST00000318528	T	0.20738	2.05	5.13	0.0364	0.14191	.	0.552945	0.16539	N	0.210052	T	0.16128	0.0388	L	0.51422	1.61	0.09310	N	0.999998	B	0.23540	0.087	B	0.25759	0.063	T	0.19386	-1.0307	10	0.45353	T	0.12	0.52	4.1577	0.10268	0.3492:0.0:0.4931:0.1576	.	303	Q6P6B1	CH047_HUMAN	E	303	ENSP00000315614:G303E	ENSP00000315614:G303E	G	+	2	0	C8orf47	99171329	0.011000	0.17503	0.161000	0.22692	0.007000	0.05969	-0.176000	0.09811	0.046000	0.15833	-0.793000	0.03317	GGA	-	C8orf47	-	NULL		0.438	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	HGNC	protein_coding	OTTHUMT00000380465.1	0	0	0	38	38	102	0.00	0.00	G			99102153	+1	23	43	23	75	tier1	no_errors	ENST00000318528	ensembl	human	known	74_37	missense	50.00	36.44	SNP	0.054	A	23	23
TCF19	6941	genome.wustl.edu	37	6	31129449	31129449	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31129449C>T	ENST00000376257.3	+	3	1218	c.464C>T	c.(463-465)tCc>tTc	p.S155F	TCF19_ENST00000376255.4_Missense_Mutation_p.S155F|TCF19_ENST00000496421.1_Intron	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	155					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						ATGCTGCCCTCCCAGGGGGCT	0.627													ENSG00000137310																																					0													70.0	79.0	76.0					6																	31129449		1208	2518	3726	SO:0001583	missense	0			-	U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.464C>T	6.37:g.31129449C>T	ENSP00000365433:p.Ser155Phe		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.S155F	ENST00000376257.3	37	c.464	CCDS43446.1	6	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419077	0.42918	.	.	ENSG00000137310	ENST00000376257;ENST00000376255;ENST00000542218	T;T;T	0.25085	1.86;1.86;1.82	5.71	4.84	0.62591	.	0.524090	0.21970	N	0.066476	T	0.11281	0.0275	L	0.47716	1.5	0.09310	N	1	B	0.34015	0.435	B	0.31290	0.127	T	0.07328	-1.0778	10	0.62326	D	0.03	-37.9673	12.6775	0.56903	0.0:0.9195:0.0:0.0805	.	155	Q9Y242	TCF19_HUMAN	F	155;155;75	ENSP00000365433:S155F;ENSP00000365431:S155F;ENSP00000439397:S75F	ENSP00000365431:S155F	S	+	2	0	TCF19	31237428	0.022000	0.18835	0.018000	0.16275	0.369000	0.29798	2.964000	0.49192	1.415000	0.47037	0.549000	0.68633	TCC	-	TCF19	-	NULL		0.627	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	HGNC	protein_coding	OTTHUMT00000076595.2	0	0	0	139	139	48	0.00	0.00	C	NM_007109		31129449	+1	40	9	90	34	tier1	no_errors	ENST00000376255	ensembl	human	known	74_37	missense	30.77	20.93	SNP	0.023	T	40	90
SLC25A12	8604	genome.wustl.edu	37	2	172712396	172712396	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:172712396G>A	ENST00000422440.2	-	4	310	c.273C>T	c.(271-273)ttC>ttT	p.F91F	SLC25A12_ENST00000392592.4_Intron|RNU6-182P_ENST00000516970.1_RNA|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAGCCACTATGAACATGGAAT	0.373													ENSG00000115840																																					0													184.0	190.0	188.0					2																	172712396		2203	4300	6503	SO:0001819	synonymous_variant	0			-	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.273C>T	2.37:g.172712396G>A			B3KR64|Q96AM8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.F91	ENST00000422440.2	37	c.273	CCDS33327.1	2																																																																																			-	SLC25A12	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.373	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	0	0	0	123	123	104	0.00	0.00	G	NM_003705		172712396	-1	21	21	56	66	tier1	no_errors	ENST00000422440	ensembl	human	known	74_37	silent	27.27	24.14	SNP	1.000	A	21	56
ABCC9	10060	genome.wustl.edu	37	12	21968812	21968812	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:21968812G>A	ENST00000261201.4	-	32	3907	c.3908C>T	c.(3907-3909)cCa>cTa	p.P1303L	ABCC9_ENST00000261200.4_Missense_Mutation_p.P1303L|ABCC9_ENST00000345162.2_Missense_Mutation_p.P1267L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1303					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCAATGTTCTGGAACTTGAGA	0.378													ENSG00000069431																																					0													127.0	115.0	119.0					12																	21968812		2203	4300	6503	SO:0001583	missense	0			-	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3908C>T	12.37:g.21968812G>A	ENSP00000261201:p.Pro1303Leu		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.P1303L	ENST00000261201.4	37	c.3908	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504214	0.85176	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	4.95	4.95	0.65309	.	0.053451	0.85682	D	0.000000	D	0.91633	0.7356	L	0.38838	1.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.92595	0.6086	10	0.87932	D	0	-13.3768	16.5312	0.84361	0.0:0.0:1.0:0.0	.	1303;1303	O60706;O60706-2	ABCC9_HUMAN;.	L	1303;930;1303;1267	ENSP00000261200:P1303L;ENSP00000440521:P930L;ENSP00000261201:P1303L;ENSP00000261202:P1267L	ENSP00000261200:P1303L	P	-	2	0	ABCC9	21860079	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.032000	0.93736	2.565000	0.86533	0.585000	0.79938	CCA	-	ABCC9	-	superfamily_P-loop_NTPase		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	0	0	0	125	125	98	0.00	0.00	G	NM_005691		21968812	-1	28	27	103	61	tier1	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	21.37	30.68	SNP	1.000	A	28	103
ZFPM2	23414	genome.wustl.edu	37	8	106814453	106814453	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:106814453G>A	ENST00000407775.2	+	8	2393	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.D446N|ZFPM2_ENST00000517361.1_Missense_Mutation_p.D583N|ZFPM2_ENST00000520492.1_Missense_Mutation_p.D583N|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	715					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACACGCCACGACCCTCCACT	0.498													ENSG00000169946																																					0													54.0	53.0	53.0					8																	106814453		2079	4209	6288	SO:0001583	missense	0			-	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2143G>A	8.37:g.106814453G>A	ENSP00000384179:p.Asp715Asn		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D715N	ENST00000407775.2	37	c.2143	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869381	0.91587	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.24538	1.85;2.35;2.35;3.58	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.45190	-0.9278	10	0.42905	T	0.14	.	19.88	0.96892	0.0:0.0:1.0:0.0	.	715	Q8WW38	FOG2_HUMAN	N	715;583;583;446	ENSP00000384179:D715N;ENSP00000430757:D583N;ENSP00000428720:D583N;ENSP00000367733:D446N	ENSP00000367733:D446N	D	+	1	0	ZFPM2	106883629	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.708000	0.92522	0.561000	0.74099	GAC	-	ZFPM2	-	NULL		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	0	0	0	34	34	70	0.00	0.00	G			106814453	+1	5	27	22	49	tier1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	18.52	35.53	SNP	1.000	A	5	22
C2orf16	84226	genome.wustl.edu	37	2	27800241	27800241	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:27800241G>A	ENST00000408964.2	+	1	853	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	268						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GATTACTCCGGAACTCAAGCA	0.463													ENSG00000221843																																					0													89.0	88.0	88.0					2																	27800241		1930	4132	6062	SO:0001583	missense	0			-	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.802G>A	2.37:g.27800241G>A	ENSP00000386190:p.Glu268Lys		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.E268K	ENST00000408964.2	37	c.802	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805169	0.50315	.	.	ENSG00000221843	ENST00000408964	T	0.09073	3.02	4.71	0.692	0.18050	.	.	.	.	.	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	P	0.42518	0.782	B	0.35278	0.199	T	0.39440	-0.9614	9	0.16420	T	0.52	.	4.5402	0.12054	0.2748:0.1651:0.5601:0.0	.	268	Q68DN1	CB016_HUMAN	K	268	ENSP00000386190:E268K	ENSP00000386190:E268K	E	+	1	0	C2orf16	27653745	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.253000	0.18296	-0.057000	0.13199	0.563000	0.77884	GAA	-	C2orf16	-	NULL		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	0	0	0	59	59	113	0.00	0.00	G	NM_032266		27800241	+1	20	55	41	37	tier1	no_errors	ENST00000408964	ensembl	human	known	74_37	missense	32.79	59.78	SNP	0.000	A	20	41
PTPRN2	5799	genome.wustl.edu	37	7	157931050	157931050	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:157931050G>A	ENST00000389418.4	-	7	1077	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	PTPRN2_ENST00000404321.2_Silent_p.A379A|PTPRN2_ENST00000389416.4_Silent_p.A339A|PTPRN2_ENST00000409483.1_Silent_p.A318A|PTPRN2_ENST00000389413.3_Silent_p.A356A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	356					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTCTCCCAGGGCCGCTCTCC	0.667													ENSG00000155093																																					0													50.0	54.0	52.0					7																	157931050		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1068C>T	7.37:g.157931050G>A			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A379	ENST00000389418.4	37	c.1137	CCDS5947.1	7																																																																																			-	PTPRN2	-	NULL		0.667	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	0	0	0	40	40	39	0.00	0.00	G			157931050	-1	12	4	26	17	tier1	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	31.58	19.05	SNP	0.000	A	12	26
NOS1	4842	genome.wustl.edu	37	12	117718556	117718556	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:117718556C>T	ENST00000338101.4	-	7	1502	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	NOS1_ENST00000317775.6_Missense_Mutation_p.D500N|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTGGCTGGGTCCCCCAGGGTG	0.612													ENSG00000089250																									Esophageal Squamous(162;1748 2599 51982 52956)												0													45.0	55.0	52.0					12																	117718556		2003	4193	6196	SO:0001583	missense	0			-		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1498G>A	12.37:g.117718556C>T	ENSP00000337459:p.Asp500Asn			Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D500N	ENST00000338101.4	37	c.1498	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.416495	0.96092	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.63255	-0.03;-0.03	5.14	5.14	0.70334	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91067	0.4890	10	0.87932	D	0	-36.9951	18.7976	0.92001	0.0:1.0:0.0:0.0	.	500	P29475	NOS1_HUMAN	N	500	ENSP00000320758:D500N;ENSP00000337459:D500N	ENSP00000320758:D500N	D	-	1	0	NOS1	116202939	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	7.603000	0.82811	2.653000	0.90120	0.563000	0.77884	GAC	-	NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	0	0	0	117	117	22	0.00	0.00	C			117718556	-1	29	9	52	16	tier1	no_errors	ENST00000317775	ensembl	human	known	74_37	missense	35.80	36.00	SNP	1.000	T	29	52
SCN3A	6328	genome.wustl.edu	37	2	165946788	165946788	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:165946788C>T	ENST00000360093.3	-	28	6366	c.5875G>A	c.(5875-5877)Gat>Aat	p.D1959N	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1910N|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1959N|SCN3A_ENST00000540861.1_Missense_Mutation_p.D442N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1959					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAACTCCCATCTGTTTTTTCT	0.373													ENSG00000153253																																					0													98.0	96.0	97.0					2																	165946788		2203	4300	6503	SO:0001583	missense	0			-	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5875G>A	2.37:g.165946788C>T	ENSP00000353206:p.Asp1959Asn		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D1959N	ENST00000360093.3	37	c.5875		2	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265977	0.40095	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.96774	-3.89;-3.89;-3.83;-4.12	6.03	6.03	0.97812	.	0.293395	0.29376	N	0.012337	D	0.97102	0.9053	M	0.73753	2.245	0.58432	D	0.999995	P;P;B	0.46142	0.873;0.873;0.309	P;P;B	0.49047	0.599;0.599;0.121	D	0.96966	0.9705	10	0.62326	D	0.03	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1910;1910;1959	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	N	1959;1959;1910;442	ENSP00000353206:D1959N;ENSP00000283254:D1959N;ENSP00000386726:D1910N;ENSP00000439920:D442N	ENSP00000283254:D1959N	D	-	1	0	SCN3A	165655034	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.801000	0.62532	2.861000	0.98227	0.655000	0.94253	GAT	-	SCN3A	-	NULL		0.373	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		0	0	0	52	52	130	0.00	0.00	C	NM_006922		165946788	-1	13	24	42	70	tier1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	23.64	25.53	SNP	1.000	T	13	42
CFHR2	3080	genome.wustl.edu	37	1	196879469	196879469	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:196879469G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000367416.2_Silent_p.T285T|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						ATGAGAATACGCGTAGACCAT	0.343													ENSG00000134365																																					0																																										SO:0001627	intron_variant	0			-	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-39116G>A	1.37:g.196879469G>A			Q14310|Q5T9T1	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T285	ENST00000367421.3	37	c.855		1																																																																																			-	CFHR4	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP		0.343	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		0	0	0	81	81	103	0.00	0.00	G	NM_005666		196879469	+1	17	33	29	41	tier1	no_errors	ENST00000367416	ensembl	human	known	74_37	silent	36.96	44.59	SNP	0.000	A	17	29
WNT3A	89780	genome.wustl.edu	37	1	228210563	228210563	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:228210563C>T	ENST00000284523.1	+	2	345	c.267C>T	c.(265-267)acC>acT	p.T89T	WNT3A_ENST00000366753.2_Silent_p.T89T	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	89					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GGAACTGCACCACCGTCCACG	0.642													ENSG00000154342																																					0													42.0	44.0	44.0					1																	228210563		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.267C>T	1.37:g.228210563C>T			Q3SY79|Q3SY80|Q969P2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.T89	ENST00000284523.1	37	c.267	CCDS1564.1	1																																																																																			-	WNT3A	-	pfam_Wnt,smart_Wnt		0.642	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3A	HGNC	protein_coding	OTTHUMT00000091648.1	0	0	0	47	47	33	0.00	0.00	C	NM_033131		228210563	+1	11	2	23	11	tier1	no_errors	ENST00000366753	ensembl	human	known	74_37	silent	32.35	15.38	SNP	1.000	T	11	23
FLNB	2317	genome.wustl.edu	37	3	58134560	58134560	+	Silent	SNP	C	C	T	rs144036986	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:58134560C>T	ENST00000295956.4	+	36	6237	c.6072C>T	c.(6070-6072)atC>atT	p.I2024I	FLNB_ENST00000493452.1_Silent_p.I1831I|FLNB_ENST00000358537.3_Silent_p.I2000I|FLNB_ENST00000348383.5_Silent_p.I2024I|FLNB_ENST00000429972.2_Silent_p.I2013I|FLNB_ENST00000419752.2_Silent_p.I1844I|FLNB_ENST00000357272.4_Silent_p.I2024I|FLNB_ENST00000490882.1_Silent_p.I2055I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2024	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTGACTTCATCGTGGACACAA	0.567													ENSG00000136068	C|||	2	0.000399361	0.0015	0.0	5008	,	,		19544	0.0		0.0	False		,,,				2504	0.0																0								C	,,,	4,4402	8.1+/-20.4	0,4,2199	61.0	62.0	62.0		6165,6039,6000,6072	-5.3	0.8	3	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FLNB	NM_001164317.1,NM_001164318.1,NM_001164319.1,NM_001457.3	,,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,,	2055/2634,2013/2592,2000/2579,2024/2603	58134560	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6072C>T	3.37:g.58134560C>T			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I2024	ENST00000295956.4	37	c.6072	CCDS2885.1	3																																																																																			rs144036986	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	0	0	0	36	36	91	0.00	0.00	C	NM_001457		58134560	+1	8	26	20	43	tier1	no_errors	ENST00000295956	ensembl	human	known	74_37	silent	28.57	37.68	SNP	0.242	T	8	20
MOV10	4343	genome.wustl.edu	37	1	113238120	113238120	+	Missense_Mutation	SNP	G	G	A	rs372683047		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:113238120G>A	ENST00000413052.2	+	11	2093	c.1703G>A	c.(1702-1704)cGg>cAg	p.R568Q	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R568Q|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000369645.1_Missense_Mutation_p.R568Q|MOV10_ENST00000369644.1_Missense_Mutation_p.R512Q	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	568					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAAAGGCTCCGGGTCCACCTT	0.592													ENSG00000155363	G|||	1	0.000199681	0.0008	0.0	5008	,	,		18430	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	100.0	85.0	90.0		1703,1703	2.3	0.9	1		90	0,8600		0,0,4300	no	missense,missense	MOV10	NM_001130079.1,NM_020963.3	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	568/1004,568/1004	113238120	2,13004	2203	4300	6503	SO:0001583	missense	0			-	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1703G>A	1.37:g.113238120G>A	ENSP00000399797:p.Arg568Gln		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R568Q	ENST00000413052.2	37	c.1703	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472668	0.43942	4.54E-4	0.0	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.35	2.27	0.28462	.	0.445187	0.23513	N	0.047375	T	0.52224	0.1721	N	0.22421	0.69	0.80722	D	1	B;P	0.43578	0.081;0.811	B;B	0.41666	0.104;0.363	T	0.50617	-0.8807	10	0.13853	T	0.58	-5.3058	6.8178	0.23841	0.0849:0.0:0.4287:0.4864	.	512;568	Q5JR04;Q9HCE1	.;MOV10_HUMAN	Q	568;568;512;568;506	ENSP00000399797:R568Q;ENSP00000358659:R568Q;ENSP00000358658:R512Q;ENSP00000350028:R568Q	ENSP00000350028:R568Q	R	+	2	0	MOV10	113039643	0.427000	0.25514	0.945000	0.38365	0.984000	0.73092	1.592000	0.36676	0.621000	0.30232	0.655000	0.94253	CGG	-	MOV10	-	superfamily_P-loop_NTPase		0.592	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	0	0	0	74	74	125	0.00	0.00	G	NM_020963		113238120	+1	13	15	49	103	tier1	no_errors	ENST00000357443	ensembl	human	known	74_37	missense	20.97	12.61	SNP	0.819	A	13	49
COPE	11316	genome.wustl.edu	37	19	19021843	19021843	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:19021843G>A	ENST00000262812.4	-	3	275	c.227C>T	c.(226-228)tCc>tTc	p.S76F	COPE_ENST00000349893.4_Missense_Mutation_p.S76F|COPE_ENST00000351079.4_Missense_Mutation_p.S76F|COPE_ENST00000600932.1_Missense_Mutation_p.S76F|AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	76					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						AGGGGCCGAGGAGGGCTTGAT	0.632													ENSG00000105669																																					0													160.0	132.0	141.0					19																	19021843		2203	4300	6503	SO:0001583	missense	0			-	AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.227C>T	19.37:g.19021843G>A	ENSP00000262812:p.Ser76Phe		A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.S76F	ENST00000262812.4	37	c.227	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781119	0.70222	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000349893;ENST00000538245	T;T;T	0.49720	0.77;0.77;0.77	4.8	2.4	0.29515	.	0.235803	0.40554	N	0.001066	T	0.60405	0.2266	M	0.79475	2.455	0.39193	D	0.962993	P;P;P;P	0.46064	0.734;0.872;0.752;0.696	P;P;P;P	0.55345	0.609;0.707;0.774;0.609	T	0.68303	-0.5444	10	0.66056	D	0.02	-27.5879	11.111	0.48232	0.0:0.0:0.643:0.357	.	76;76;76;76	Q53HJ6;A6NE29;A6NKA3;O14579	.;.;.;COPE_HUMAN	F	76;76;76;75	ENSP00000262812:S76F;ENSP00000345674:S76F;ENSP00000343134:S76F	ENSP00000262812:S76F	S	-	2	0	COPE	18882843	1.000000	0.71417	0.997000	0.53966	0.870000	0.49936	1.919000	0.40015	2.215000	0.71742	0.514000	0.50259	TCC	-	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.632	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	0	0	0	42	42	99	0.00	0.00	G	NM_007263		19021843	-1	16	48	14	28	tier1	no_errors	ENST00000262812	ensembl	human	known	74_37	missense	53.33	62.34	SNP	1.000	A	16	14
PRLR	5618	genome.wustl.edu	37	5	35084606	35084606	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35084606G>A	ENST00000382002.5	-	5	765	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Silent_p.F113F|PRLR_ENST00000231423.3_Silent_p.F113F|PRLR_ENST00000310101.5_Silent_p.F113F|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000348262.3_Silent_p.F113F|PRLR_ENST00000542609.1_Silent_p.F113F|PRLR_ENST00000397391.3_Silent_p.F42F|PRLR_ENST00000342362.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	113	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTTCATCCGAGAAACTGCTTC	0.478													ENSG00000113494																																					0													243.0	226.0	231.0					5																	35084606		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.339C>T	5.37:g.35084606G>A			B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.F113	ENST00000382002.5	37	c.339	CCDS3909.1	5																																																																																			-	PRLR	-	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	0	0	0	75	75	146	0.00	0.00	G			35084606	-1	23	35	81	118	tier1	no_errors	ENST00000382002	ensembl	human	known	74_37	silent	22.12	22.88	SNP	0.183	A	23	81
ZNF786	136051	genome.wustl.edu	37	7	148767611	148767611	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:148767611G>A	ENST00000491431.1	-	4	2317	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	ZNF786_ENST00000451334.3_Silent_p.I714I|ZNF786_ENST00000316286.9_Silent_p.I665I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	751					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTGTACTCTGATGTGCTCCG	0.512													ENSG00000197362																																					0													204.0	198.0	200.0					7																	148767611		1999	4195	6194	SO:0001819	synonymous_variant	0			-	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2253C>T	7.37:g.148767611G>A			A1A568|B4DMI1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I751	ENST00000491431.1	37	c.2253	CCDS47738.1	7																																																																																			-	ZNF786	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	HGNC	protein_coding	OTTHUMT00000352751.1	0	0	0	41	41	95	0.00	0.00	G	NM_152411		148767611	-1	5	20	24	52	tier1	no_errors	ENST00000491431	ensembl	human	known	74_37	silent	17.24	27.78	SNP	0.001	A	5	24
CDH8	1006	genome.wustl.edu	37	16	61687910	61687910	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:61687910C>T	ENST00000577390.1	-	12	2956	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	CDH8_ENST00000577730.1_Missense_Mutation_p.D668N|CDH8_ENST00000299345.6_Missense_Mutation_p.D668N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	668					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTTCATCATCGTAGCGAATG	0.398													ENSG00000150394																																					0													125.0	117.0	120.0					16																	61687910		2203	4300	6503	SO:0001583	missense	0			-	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2002G>A	16.37:g.61687910C>T	ENSP00000462701:p.Asp668Asn		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D668N	ENST00000577390.1	37	c.2002	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347805	0.82022	.	.	ENSG00000150394	ENST00000299345	T	0.77620	-1.11	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.048613	0.85682	N	0.000000	T	0.74366	0.3707	L	0.47016	1.485	0.80722	D	1	B	0.29909	0.261	B	0.32583	0.148	T	0.69213	-0.5204	10	0.23891	T	0.37	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	668	P55286	CADH8_HUMAN	N	668	ENSP00000299345:D668N	ENSP00000299345:D668N	D	-	1	0	CDH8	60245411	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.770000	0.85390	2.679000	0.91253	0.655000	0.94253	GAT	-	CDH8	-	pfam_Cadherin_cytoplasmic-dom		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	0	0	0	101	101	148	0.00	0.00	C	NM_001796		61687910	-1	29	43	60	84	tier1	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	32.58	33.86	SNP	1.000	T	29	60
IDUA	3425	genome.wustl.edu	37	4	998110	998110	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:998110C>T	ENST00000247933.4	+	14	1979	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S	IDUA_ENST00000453894.1_Missense_Mutation_p.P653S|IDUA_ENST00000514224.1_Missense_Mutation_p.P499S	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	631					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGACCAGGCCCCTTCTCGGA	0.652													ENSG00000127415																																					0													53.0	61.0	58.0					4																	998110		2203	4300	6503	SO:0001583	missense	0			-	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.1891C>T	4.37:g.998110C>T	ENSP00000247933:p.Pro631Ser		B3KWK6	Missense_Mutation	SNP	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.P653S	ENST00000247933.4	37	c.1957	CCDS3343.1	4	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810406	0.50421	.	.	ENSG00000127415	ENST00000247933;ENST00000453894;ENST00000514224	T;T;T	0.78481	-1.18;-1.18;-1.18	5.55	4.7	0.59300	.	0.398535	0.25842	N	0.027946	T	0.72342	0.3448	M	0.69823	2.125	0.30000	N	0.816086	P;B	0.34864	0.473;0.38	B;B	0.30105	0.111;0.05	T	0.69793	-0.5049	10	0.27082	T	0.32	-42.9246	11.4699	0.50261	0.0:0.9134:0.0:0.0866	.	653;631	B3KWK6;P35475	.;IDUA_HUMAN	S	631;653;499	ENSP00000247933:P631S;ENSP00000396458:P653S;ENSP00000425081:P499S	ENSP00000247933:P631S	P	+	1	0	IDUA	988110	0.305000	0.24481	1.000000	0.80357	0.931000	0.56810	1.360000	0.34125	2.641000	0.89580	0.555000	0.69702	CCC	-	IDUA	-	superfamily_Fibronectin_type3		0.652	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	HGNC	protein_coding	OTTHUMT00000201812.1	0	0	0	77	77	26	0.00	0.00	C	NM_000203		998110	+1	32	9	19	26	tier1	no_errors	ENST00000453894	ensembl	human	known	74_37	missense	62.75	25.71	SNP	1.000	T	32	19
TBC1D9	23158	genome.wustl.edu	37	4	141590131	141590131	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:141590131C>T	ENST00000442267.2	-	9	1602	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	510							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AACACCAGCTCCCGCGTTTTC	0.567													ENSG00000109436																																					0													47.0	55.0	53.0					4																	141590131		2169	4280	6449	SO:0001583	missense	0			-	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1528G>A	4.37:g.141590131C>T	ENSP00000411197:p.Glu510Lys		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.E510K	ENST00000442267.2	37	c.1528	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432932	0.62844	.	.	ENSG00000109436	ENST00000442267	T	0.04119	3.7	5.61	5.61	0.85477	Rab-GAP/TBC domain (1);	0.130264	0.64402	D	0.000001	T	0.04815	0.0130	L	0.28556	0.865	0.54753	D	0.999987	B	0.06786	0.001	B	0.06405	0.002	T	0.25676	-1.0125	10	0.02654	T	1	-4.8707	20.0018	0.97417	0.0:1.0:0.0:0.0	.	510	Q6ZT07	TBCD9_HUMAN	K	510	ENSP00000411197:E510K	ENSP00000411197:E510K	E	-	1	0	TBC1D9	141809581	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.793000	0.96121	0.655000	0.94253	GAG	-	TBC1D9	-	superfamily_Rab-GTPase-TBC_dom		0.567	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	0	0	0	79	79	66	0.00	0.00	C	NM_015130		141590131	-1	35	28	19	15	tier1	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	64.81	65.12	SNP	1.000	T	35	19
DACT1	51339	genome.wustl.edu	37	14	59112874	59112874	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:59112874G>A	ENST00000335867.4	+	4	1557	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	DACT1_ENST00000556859.1_Silent_p.Q230Q|DACT1_ENST00000395153.3_Silent_p.Q474Q|DACT1_ENST00000541264.2_Silent_p.Q230Q			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	511					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGATGTCACAGAAAAACAGCC	0.602													ENSG00000165617																																					0													59.0	74.0	69.0					14																	59112874		2200	4300	6500	SO:0001819	synonymous_variant	0			-	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1533G>A	14.37:g.59112874G>A			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.Q511	ENST00000335867.4	37	c.1533	CCDS9736.1	14																																																																																			-	DACT1	-	NULL		0.602	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	0	0	0	47	47	116	0.00	0.00	G	NM_016651		59112874	+1	17	25	30	70	tier1	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	36.17	26.32	SNP	0.956	A	17	30
ATP6V1G2	534	genome.wustl.edu	37	6	31513150	31513150	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31513150G>A	ENST00000303892.5	-	0	676				ATP6V1G2_ENST00000483170.1_5'UTR|DDX39B_ENST00000458640.1_5'Flank|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000417556.2_5'Flank|NFKBIL1_ENST00000376145.4_5'Flank|NFKBIL1_ENST00000376148.4_5'Flank|ATP6V1G2_ENST00000376151.4_3'UTR|DDX39B_ENST00000396172.1_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B-AS1_ENST00000420520.1_RNA|ATP6V1G2-DDX39B_ENST00000475917.1_Intron|ATP6V1G2_ENST00000483251.1_3'UTR	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						TTTGAGGGAGGGAACTGGCAG	0.537													ENSG00000213760																																					0													29.0	26.0	27.0					6																	31513150		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.*35C>T	6.37:g.31513150G>A			B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	R	SNP	-	NULL	ENST00000303892.5	37	NULL	CCDS4698.1	6																																																																																			-	ATP6V1G2	-	-		0.537	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G2	HGNC	protein_coding	OTTHUMT00000076399.3	0	0	0	59	59	75	0.00	0.00	G	NM_130463		31513150	-1	26	21	35	35	tier1	no_errors	ENST00000483170	ensembl	human	known	74_37	rna	42.62	37.50	SNP	0.000	A	26	35
DEFB113	245927	genome.wustl.edu	37	6	49936529	49936529	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:49936529A>G	ENST00000398718.1	-	2	109	c.110T>C	c.(109-111)cTt>cCt	p.L37P		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	37					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					ACCACGAACAAGCTGACATTC	0.403													ENSG00000214642																																					0													112.0	107.0	109.0					6																	49936529		1884	4106	5990	SO:0001583	missense	0			-	DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.110T>C	6.37:g.49936529A>G	ENSP00000381703:p.Leu37Pro			Missense_Mutation	SNP	NULL	p.L37P	ENST00000398718.1	37	c.110	CCDS43472.1	6	.	.	.	.	.	.	.	.	.	.	A	9.242	1.038656	0.19669	.	.	ENSG00000214642	ENST00000398718	T	0.12465	2.68	4.15	2.94	0.34122	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.24660	N	0.993476	D	0.71674	0.998	D	0.69479	0.964	T	0.05146	-1.0903	7	.	.	.	-6.4136	7.6423	0.28300	0.784:0.216:0.0:0.0	.	37	Q30KQ7	DB113_HUMAN	P	37	ENSP00000381703:L37P	.	L	-	2	0	DEFB113	50044488	0.717000	0.27966	0.118000	0.21660	0.020000	0.10135	1.978000	0.40598	0.720000	0.32209	0.455000	0.32223	CTT	-	DEFB113	-	NULL		0.403	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB113	HGNC	protein_coding	OTTHUMT00000359666.1	0	0	0	71	71	97	0.00	0.00	A			49936529	-1	18	29	59	53	tier1	no_errors	ENST00000398718	ensembl	human	known	74_37	missense	23.38	34.94	SNP	0.135	G	18	59
NLRP2	55655	genome.wustl.edu	37	19	55481485	55481485	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:55481485C>T	ENST00000543010.1	+	2	245	c.102C>T	c.(100-102)tcC>tcT	p.S34S	NLRP2_ENST00000391721.4_Silent_p.S34S|NLRP2_ENST00000448584.2_Silent_p.S34S|NLRP2_ENST00000339757.7_Silent_p.S34S|NLRP2_ENST00000263437.6_Silent_p.S34S|NLRP2_ENST00000537859.1_Silent_p.S34S|NLRP2_ENST00000427260.2_Silent_p.S34S|NLRP2_ENST00000538819.1_Silent_p.S34S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	34	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CGACCTTCTCCCTGGCACACG	0.552													ENSG00000022556																																					0													107.0	94.0	98.0					19																	55481485		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.102C>T	19.37:g.55481485C>T			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.S34	ENST00000543010.1	37	c.102	CCDS12913.1	19																																																																																			-	NLRP2	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	0	0	0	55	55	59	0.00	0.00	C	NM_017852		55481485	+1	23	28	31	34	tier1	no_errors	ENST00000448584	ensembl	human	known	74_37	silent	42.59	45.16	SNP	0.001	T	23	31
LTBP2	4053	genome.wustl.edu	37	14	74971722	74971722	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74971722C>T	ENST00000261978.4	-	29	4719	c.4333G>A	c.(4333-4335)Gga>Aga	p.G1445R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1401R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1445	TB 3.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGGCATCTCCCCAGCTAGCG	0.622													ENSG00000119681																																					0													66.0	66.0	66.0					14																	74971722		2203	4300	6503	SO:0001583	missense	0			-		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4333G>A	14.37:g.74971722C>T	ENSP00000261978:p.Gly1445Arg		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G1445R	ENST00000261978.4	37	c.4333	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.097454	0.94197	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.97791	-4.54;-4.54	4.83	4.83	0.62350	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.38058	N	0.001825	D	0.98817	0.9601	M	0.87328	2.875	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99267	1.0892	10	0.51188	T	0.08	.	18.1711	0.89745	0.0:1.0:0.0:0.0	.	1445	Q14767	LTBP2_HUMAN	R	1445;1401	ENSP00000261978:G1445R;ENSP00000451477:G1401R	ENSP00000261978:G1445R	G	-	1	0	LTBP2	74041475	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.613000	0.82986	2.511000	0.84671	0.555000	0.69702	GGA	-	LTBP2	-	pfam_TB_dom,superfamily_TB_dom		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	0	0	0	35	35	47	0.00	0.00	C	NM_000428		74971722	-1	4	6	17	30	tier1	no_errors	ENST00000261978	ensembl	human	known	74_37	missense	19.05	16.22	SNP	1.000	T	4	17
PCNXL2	80003	genome.wustl.edu	37	1	233335983	233335983	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:233335983G>A	ENST00000258229.9	-	14	3125	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	PCNXL2_ENST00000488780.2_Missense_Mutation_p.S97F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	964						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCAAGGAGGGAAATAGCAGG	0.423													ENSG00000135749																																					0													52.0	50.0	50.0					1																	233335983		1876	4098	5974	SO:0001583	missense	0			-	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2891C>T	1.37:g.233335983G>A	ENSP00000258229:p.Ser964Phe		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.S964F	ENST00000258229.9	37	c.2891	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	9.803	1.181169	0.21787	.	.	ENSG00000135749	ENST00000258229;ENST00000488780;ENST00000518351	T;T;T	0.46063	0.88;0.88;0.88	5.46	5.46	0.80206	.	.	.	.	.	T	0.25494	0.0620	N	0.10645	0.015	0.80722	D	1	B	0.27140	0.169	B	0.20577	0.03	T	0.08554	-1.0716	8	.	.	.	.	19.3001	0.94141	0.0:0.0:1.0:0.0	.	964	A6NKB5	PCX2_HUMAN	F	964;97;133	ENSP00000258229:S964F;ENSP00000430820:S97F;ENSP00000429231:S133F	.	S	-	2	0	PCNXL2	231402606	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	6.241000	0.72369	2.565000	0.86533	0.650000	0.86243	TCC	-	PCNXL2	-	NULL		0.423	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	0	0	0	113	113	108	0.00	0.00	G	NM_014801		233335983	-1	39	19	61	38	tier1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	38.61	33.33	SNP	1.000	A	39	61
SH2D7	646892	genome.wustl.edu	37	15	78393345	78393345	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:78393345C>T	ENST00000328828.5	+	5	750	c.750C>T	c.(748-750)aaC>aaT	p.N250N	SH2D7_ENST00000409568.2_Silent_p.N114N	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	250										endometrium(2)|kidney(2)|lung(3)	7						GGAGGATGAACCAGGCACGGC	0.612													ENSG00000183476																																					0													36.0	41.0	40.0					15																	78393345		1975	4157	6132	SO:0001819	synonymous_variant	0			-		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.750C>T	15.37:g.78393345C>T				Silent	SNP	NULL	p.N114	ENST00000328828.5	37	c.342	CCDS45315.1	15																																																																																			-	SH2D7	-	NULL		0.612	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	0	0	0	40	40	48	0.00	0.00	C	NM_001101404		78393345	+1	7	10	33	29	tier1	no_errors	ENST00000409568	ensembl	human	putative	74_37	silent	17.50	25.64	SNP	0.007	T	7	33
ANKRD45	339416	genome.wustl.edu	37	1	173596261	173596261	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:173596261G>A	ENST00000333279.2	-	4	594	c.534C>T	c.(532-534)gtC>gtT	p.V178V		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	194										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CAGCTAAAGAGACTTTTGCAA	0.383													ENSG00000183831																																					0													140.0	146.0	144.0					1																	173596261		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.534C>T	1.37:g.173596261G>A			A1A4G2|Q6ZST1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V178	ENST00000333279.2	37	c.534	CCDS1309.1	1																																																																																			-	ANKRD45	-	NULL		0.383	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD45	HGNC	protein_coding	OTTHUMT00000097580.2	0	0	0	65	65	88	0.00	0.00	G	NM_198493		173596261	-1	31	28	49	39	tier1	no_errors	ENST00000333279	ensembl	human	known	74_37	silent	38.75	41.79	SNP	0.011	A	31	49
HECTD1	25831	genome.wustl.edu	37	14	31588985	31588985	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:31588985G>A	ENST00000399332.1	-	29	5814	c.5326C>T	c.(5326-5328)Cct>Tct	p.P1776S	HECTD1_ENST00000553700.1_Missense_Mutation_p.P1776S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1776					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCAAAAGCAGGAACCAATGCA	0.403													ENSG00000092148																																					0													150.0	145.0	147.0					14																	31588985		1915	4121	6036	SO:0001583	missense	0			-	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5326C>T	14.37:g.31588985G>A	ENSP00000382269:p.Pro1776Ser		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.P1776S	ENST00000399332.1	37	c.5326	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581633	0.86748	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.12039	2.72;2.72;2.72	5.61	5.61	0.85477	.	0.000000	0.64402	U	0.000001	T	0.38692	0.1050	M	0.66439	2.03	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.04165	-1.0972	10	0.72032	D	0.01	-12.0527	19.9989	0.97403	0.0:0.0:1.0:0.0	.	1776;1776	D3DS86;Q9ULT8	.;HECD1_HUMAN	S	1776;1778;1776;1203	ENSP00000450697:P1776S;ENSP00000382269:P1776S;ENSP00000451860:P1203S	ENSP00000261312:P1778S	P	-	1	0	HECTD1	30658736	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.750000	0.98875	2.805000	0.96524	0.460000	0.39030	CCT	-	HECTD1	-	NULL		0.403	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	0	0	1	70	70	105	0.00	0.94	G			31588985	-1	42	36	56	65	tier1	no_errors	ENST00000399332	ensembl	human	known	74_37	missense	42.86	35.64	SNP	1.000	A	42	56
KIF1A	547	genome.wustl.edu	37	2	241728729	241728729	+	Splice_Site	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241728729G>T	ENST00000320389.7	-	3	265	c.107C>A	c.(106-108)aCc>aAc	p.T36N	KIF1A_ENST00000498729.2_Splice_Site_p.T36N	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	36	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTTAACAATGGCTGTGGGAGG	0.597													ENSG00000130294																																					0													70.0	83.0	79.0					2																	241728729		2180	4291	6471	SO:0001630	splice_region_variant	0			-	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.107-1C>A	2.37:g.241728729G>T			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T36N	ENST00000320389.7	37	c.107	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882965	0.51908	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.41	3.53	0.40419	Kinesin, motor domain (4);	0.132610	0.49305	U	0.000142	D	0.90463	0.7013	L	0.60067	1.865	0.80722	D	1	P;D;B	0.60575	0.864;0.988;0.217	P;P;B	0.56700	0.691;0.804;0.179	D	0.89917	0.4056	10	0.66056	D	0.02	.	10.873	0.46894	0.0952:0.0:0.9048:0.0	.	36;36;36	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	N	36	ENSP00000322791:T36N;ENSP00000438388:T36N;ENSP00000384231:T36N;ENSP00000398686:T36N	ENSP00000322791:T36N	T	-	2	0	KIF1A	241377402	1.000000	0.71417	0.996000	0.52242	0.082000	0.17680	4.608000	0.61141	0.839000	0.34971	0.462000	0.41574	ACC	-	KIF1A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	0	0	0	124	124	160	0.00	0.00	G	NM_138483	Missense_Mutation	241728729	-1	28	48	59	72	tier1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	32.18	40.00	SNP	1.000	T	28	59
SCAF11	9169	genome.wustl.edu	37	12	46357927	46357927	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:46357927G>A	ENST00000369367.3	-	2	257	c.24C>T	c.(22-24)acC>acT	p.T8T	SCAF11_ENST00000419565.2_Silent_p.T8T|SCAF11_ENST00000395454.2_Silent_p.T8T|SCAF11_ENST00000395453.2_Silent_p.T8T	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	8					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CCATATTTAGGGTACATACAG	0.299													ENSG00000139218																																					0													89.0	83.0	85.0					12																	46357927		1786	4051	5837	SO:0001819	synonymous_variant	0			-	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.24C>T	12.37:g.46357927G>A			A6NEU9|A6NLW5|Q8IW59	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.T8	ENST00000369367.3	37	c.24	CCDS8748.2	12																																																																																			-	SCAF11	-	NULL		0.299	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	0	0	0	232	232	93	0.00	0.00	G	NM_004719		46357927	-1	39	38	146	72	tier1	no_errors	ENST00000369367	ensembl	human	known	74_37	silent	20.97	34.55	SNP	0.006	A	39	146
ZNF148	7707	genome.wustl.edu	37	3	124951507	124951507	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:124951507G>A	ENST00000360647.4	-	9	2548	c.2063C>T	c.(2062-2064)cCc>cTc	p.P688L	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.P688L|ZNF148_ENST00000492394.1_Missense_Mutation_p.P688L|ZNF148_ENST00000484491.1_Missense_Mutation_p.P688L|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	688					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ACCTGAAAAGGGAAATGAGTG	0.453													ENSG00000163848																																					0													178.0	159.0	165.0					3																	124951507		2203	4300	6503	SO:0001583	missense	0			-	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2063C>T	3.37:g.124951507G>A	ENSP00000353863:p.Pro688Leu		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P688L	ENST00000360647.4	37	c.2063	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539626	0.27563	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.14	5.14	0.70334	.	0.169871	0.53938	D	0.000049	T	0.28134	0.0694	N	0.08118	0	0.80722	D	1	B	0.30482	0.281	B	0.24974	0.057	T	0.13361	-1.0512	10	0.42905	T	0.14	-5.3736	14.4051	0.67075	0.0:0.1474:0.8526:0.0	.	688	Q9UQR1	ZN148_HUMAN	L	688	ENSP00000353863:P688L;ENSP00000420335:P688L;ENSP00000419322:P688L;ENSP00000420448:P688L	ENSP00000353863:P688L	P	-	2	0	ZNF148	126434197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.311000	0.78958	2.673000	0.90976	0.591000	0.81541	CCC	-	ZNF148	-	NULL		0.453	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	0	0	0	44	44	110	0.00	0.00	G	NM_021964		124951507	-1	32	54	44	69	tier1	no_errors	ENST00000360647	ensembl	human	known	74_37	missense	42.11	43.90	SNP	1.000	A	32	44
MIAT	440823	genome.wustl.edu	37	22	27068673	27068673	+	lincRNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:27068673G>A	ENST00000382641.1	-	0	0				MIAT_ENST00000423278.1_lincRNA|CTA-211A9.5_ENST00000437071.1_lincRNA																							GCCCCTCACCGGAAATTAGCA	0.572													ENSG00000225783																																					0																																												0			-																													22.37:g.27068673G>A				R	SNP	-	NULL	ENST00000382641.1	37	NULL		22																																																																																			-	MIAT	-	-		0.572	CTA-373H7.7-001	KNOWN	basic|exp_conf	lincRNA	MIAT	HGNC	lincRNA	OTTHUMT00000320776.1	0	0	0	19	19	35	0.00	0.00	G			27068673	+1	6	15	6	34	tier1	no_errors	ENST00000421151	ensembl	human	known	74_37	rna	50.00	30.61	SNP	0.004	A	6	6
COL5A3	50509	genome.wustl.edu	37	19	10114285	10114285	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:10114285C>T	ENST00000264828.3	-	6	890	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	269	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCCAAATTTCCTTGTTCTTT	0.567											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000080573																																					0													262.0	194.0	217.0					19																	10114285		2203	4300	6503	SO:0001583	missense	0			-	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.805G>A	19.37:g.10114285C>T	ENSP00000264828:p.Glu269Lys	662	Q9NZQ6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E269K	ENST00000264828.3	37	c.805	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	12.26	1.886061	0.33348	.	.	ENSG00000080573	ENST00000264828	D	0.89810	-2.57	3.99	3.99	0.46301	.	1.743750	0.03561	U	0.227132	T	0.78521	0.4296	N	0.12887	0.27	0.30804	N	0.73957	B	0.33694	0.421	B	0.24701	0.055	T	0.66670	-0.5865	10	0.09084	T	0.74	.	11.8177	0.52220	0.0:1.0:0.0:0.0	.	269	P25940	CO5A3_HUMAN	K	269	ENSP00000264828:E269K	ENSP00000264828:E269K	E	-	1	0	COL5A3	9975285	0.034000	0.19679	0.923000	0.36655	0.342000	0.28953	1.414000	0.34736	2.220000	0.72140	0.456000	0.33151	GAA	-	COL5A3	-	NULL		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	0	0	0	56	56	129	0.00	0.00	C	NM_015719		10114285	-1	48	80	18	30	tier1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	72.73	72.73	SNP	0.970	T	48	18
ACSS3	79611	genome.wustl.edu	37	12	81536978	81536978	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:81536978A>G	ENST00000548058.1	+	5	1783	c.873A>G	c.(871-873)gaA>gaG	p.E291E	ACSS3_ENST00000261206.3_Silent_p.E290E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	291						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTCTTTCAGAACACCCACTGT	0.463													ENSG00000111058																																					0													127.0	116.0	120.0					12																	81536978		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.873A>G	12.37:g.81536978A>G			Q8NC66	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.E291	ENST00000548058.1	37	c.873	CCDS9022.1	12																																																																																			-	ACSS3	-	pfam_AMP-dep_Synth/Lig		0.463	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	0	0	0	75	75	64	0.00	0.00	A	NM_024560		81536978	+1	20	24	40	53	tier1	no_errors	ENST00000548058	ensembl	human	known	74_37	silent	33.33	31.17	SNP	0.995	G	20	40
ST8SIA4	7903	genome.wustl.edu	37	5	100231446	100231446	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:100231446C>T	ENST00000231461.5	-	2	467	c.157G>A	c.(157-159)Gat>Aat	p.D53N	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.D53N	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	53					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATGATTTTATCAGAGCTATTG	0.373													ENSG00000113532																																					0													114.0	111.0	112.0					5																	100231446		2203	4299	6502	SO:0001583	missense	0			-	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.157G>A	5.37:g.100231446C>T	ENSP00000231461:p.Asp53Asn		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.D53N	ENST00000231461.5	37	c.157	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414538	0.42817	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.33216	2.18;1.42	6.06	5.02	0.67125	.	0.120167	0.56097	D	0.000036	T	0.16557	0.0398	N	0.08118	0	0.41705	D	0.989429	B	0.02656	0.0	B	0.01281	0.0	T	0.09443	-1.0674	10	0.15952	T	0.53	.	15.3419	0.74303	0.0:0.9225:0.0:0.0775	.	53	Q92187	SIA8D_HUMAN	N	53	ENSP00000231461:D53N;ENSP00000428914:D53N	ENSP00000231461:D53N	D	-	1	0	ST8SIA4	100259345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.041000	0.57339	2.871000	0.98454	0.655000	0.94253	GAT	-	ST8SIA4	-	pirsf_Sialyl_trans		0.373	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	0	0	0	93	93	120	0.00	0.00	C	NM_005668		100231446	-1	22	42	33	39	tier1	no_errors	ENST00000231461	ensembl	human	known	74_37	missense	40.00	51.85	SNP	1.000	T	22	33
SUSD1	64420	genome.wustl.edu	37	9	114804167	114804167	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:114804167G>A	ENST00000374270.3	-	16	2395	c.2223C>T	c.(2221-2223)ttC>ttT	p.F741F	SUSD1_ENST00000374264.2_3'UTR|SUSD1_ENST00000374263.3_3'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	741						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAAGGAGAGGAATGTGAGAA	0.527													ENSG00000106868																																					0													171.0	150.0	157.0					9																	114804167		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.2223C>T	9.37:g.114804167G>A			A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.F741	ENST00000374270.3	37	c.2223	CCDS6783.1	9																																																																																			-	SUSD1	-	NULL		0.527	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	0	0	0	27	27	85	0.00	0.00	G	NM_022486		114804167	-1	12	40	5	23	tier1	no_errors	ENST00000374270	ensembl	human	known	74_37	silent	70.59	63.49	SNP	0.989	A	12	5
DPPA4	55211	genome.wustl.edu	37	3	109047903	109047903	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:109047903G>A	ENST00000335658.6	-	6	766	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	DPPA4_ENST00000478791.1_5'Flank	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	238					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TCTGCAGGGAGACTTTTCCCA	0.512													ENSG00000121570																																					0													61.0	57.0	59.0					3																	109047903		2203	4300	6503	SO:0001583	missense	0			-	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.712C>T	3.37:g.109047903G>A	ENSP00000335306:p.Leu238Phe		A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	NULL	p.L238F	ENST00000335658.6	37	c.712	CCDS33814.1	3	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461392	0.63513	.	.	ENSG00000121570	ENST00000335658	T	0.28454	1.61	4.91	2.11	0.27256	.	0.251277	0.28683	N	0.014493	T	0.36826	0.0981	L	0.43152	1.355	0.28188	N	0.927863	D	0.58268	0.982	P	0.62740	0.906	T	0.12243	-1.0555	10	0.72032	D	0.01	-13.666	3.905	0.09178	0.1954:0.0:0.6134:0.1912	.	238	Q7L190	DPPA4_HUMAN	F	238	ENSP00000335306:L238F	ENSP00000335306:L238F	L	-	1	0	DPPA4	110530593	0.972000	0.33761	0.959000	0.39883	0.976000	0.68499	0.662000	0.25038	0.755000	0.32990	0.467000	0.42956	CTC	-	DPPA4	-	NULL		0.512	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	0	0	0	33	33	85	0.00	0.00	G	NM_018189		109047903	-1	10	25	22	69	tier1	no_errors	ENST00000335658	ensembl	human	known	74_37	missense	31.25	26.32	SNP	0.719	A	10	22
TAS2R9	50835	genome.wustl.edu	37	12	10962049	10962049	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:10962049G>A	ENST00000240691.2	-	1	718	c.626C>T	c.(625-627)aCc>aTc	p.T209I	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	209					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.T209N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATCTGCTTGGTGTGTCTAAC	0.478													ENSG00000121381																																					1	Substitution - Missense(1)	ovary(1)											81.0	82.0	82.0					12																	10962049		2203	4300	6503	SO:0001583	missense	0			-	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.626C>T	12.37:g.10962049G>A	ENSP00000240691:p.Thr209Ile		Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.T209I	ENST00000240691.2	37	c.626	CCDS8633.1	12	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443942	0.25987	.	.	ENSG00000121381	ENST00000240691	T	0.00737	5.76	4.14	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.368719	0.20653	U	0.088162	T	0.01124	0.0037	L	0.48642	1.525	0.09310	N	1	B	0.29378	0.243	B	0.40444	0.329	T	0.44757	-0.9307	10	0.37606	T	0.19	.	3.546	0.07828	0.211:0.0:0.5885:0.2005	.	209	Q9NYW1	TA2R9_HUMAN	I	209	ENSP00000240691:T209I	ENSP00000240691:T209I	T	-	2	0	TAS2R9	10853316	0.000000	0.05858	0.249000	0.24280	0.008000	0.06430	-0.863000	0.04259	0.464000	0.27142	0.650000	0.86243	ACC	-	TAS2R9	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.478	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R9	HGNC	protein_coding	OTTHUMT00000399933.1	0	0	1	72	72	109	0.00	0.91	G			10962049	-1	28	31	43	46	tier1	no_errors	ENST00000240691	ensembl	human	known	74_37	missense	39.44	39.74	SNP	0.182	A	28	43
ZNF17	7565	genome.wustl.edu	37	19	57922526	57922526	+	5'Flank	SNP	C	C	T	rs528043778		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:57922526C>T	ENST00000601808.1	+	0	0				AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|ZNF17_ENST00000307658.7_5'Flank|AC003002.6_ENST00000596400.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GGCGGGACTTCCTGCAACGCC	0.567													ENSG00000269533																									Melanoma(149;1637 1853 29914 42869 44988)												0																																										SO:0001631	upstream_gene_variant	0			-	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021			19.37:g.57922526C>T	Exception_encountered		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	R	SNP	-	NULL	ENST00000601808.1	37	NULL	CCDS42636.1	19																																																																																			-	AC003002.6	-	-		0.567	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000269533	Clone_based_vega_gene	protein_coding	OTTHUMT00000466384.1	0	0	0	54	54	73	0.00	0.00	C	NM_006959		57922526	+1	11	23	12	38	tier1	no_errors	ENST00000600421	ensembl	human	known	74_37	rna	47.83	37.70	SNP	0.005	T	11	12
SLCO3A1	28232	genome.wustl.edu	37	15	92432389	92432389	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:92432389C>T	ENST00000318445.6	+	2	394				SLCO3A1_ENST00000424469.2_Intron	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TCTTATTGTTCCTTGACTGAT	0.393													ENSG00000176463																																					0																																										SO:0001627	intron_variant	0			-	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.181-26834C>T	15.37:g.92432389C>T			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	R	SNP	-	NULL	ENST00000318445.6	37	NULL	CCDS10371.1	15																																																																																			-	SLCO3A1	-	-		0.393	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	0	0	0	41	41	122	0.00	0.00	C	NM_013272		92432389	+1	15	38	39	49	tier1	no_errors	ENST00000555111	ensembl	human	known	74_37	rna	27.78	43.68	SNP	0.035	T	15	39
IKBIP	121457	genome.wustl.edu	37	12	99007549	99007549	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:99007549C>T	ENST00000342502.2	-	3	1278	c.867G>A	c.(865-867)aaG>aaA	p.K289K	IKBIP_ENST00000420861.1_Silent_p.K183K|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	289					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GGGAAAAGTCCTTCTTTAGAT	0.348													ENSG00000166130																																					0													112.0	115.0	114.0					12																	99007549		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.867G>A	12.37:g.99007549C>T			Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	NULL	p.K289	ENST00000342502.2	37	c.867	CCDS9067.1	12																																																																																			-	IKBIP	-	NULL		0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	0	0	0	81	81	120	0.00	0.00	C	NM_153687		99007549	-1	21	30	40	65	tier1	no_errors	ENST00000342502	ensembl	human	known	74_37	silent	34.43	31.58	SNP	1.000	T	21	40
SIK1	150094	genome.wustl.edu	37	21	44839073	44839073	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:44839073C>T	ENST00000270162.6	-	11	1422	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	430			R -> W (in dbSNP:rs34164089).		cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CGGGCCGGGGCCGGAACACTC	0.667													ENSG00000142178																																					0													17.0	21.0	20.0					21																	44839073		2183	4291	6474	SO:0001819	synonymous_variant	0			-	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1290G>A	21.37:g.44839073C>T			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R430	ENST00000270162.6	37	c.1290	CCDS33575.1	21																																																																																			-	SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2		0.667	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	0	0	0	95	95	18	0.00	0.00	C	NM_173354		44839073	-1	29	9	88	14	tier1	no_errors	ENST00000270162	ensembl	human	known	74_37	silent	24.79	39.13	SNP	1.000	T	29	88
TRIM27	5987	genome.wustl.edu	37	6	28872290	28872290	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28872290T>C	ENST00000377199.3	-	8	1455	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCCCGGCGATGAAGCATGGA	0.522			T	RET	papillary thyroid								ENSG00000204713																												Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													71.0	71.0	71.0					6																	28872290		1511	2709	4220	SO:0001583	missense	0			-	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1099A>G	6.37:g.28872290T>C	ENSP00000366404:p.Ile367Val		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.I367V	ENST00000377199.3	37	c.1099	CCDS4654.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.193|1.193	-0.634611|-0.634611	0.03584|0.03584	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000414543|ENST00000377199	.|T	.|0.60672	.|0.17	4.89|4.89	2.31|2.31	0.28768|0.28768	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.|0.127308	.|0.37393	.|N	.|0.002105	T|T	0.16938|0.16938	0.0407|0.0407	N|N	0.12920|0.12920	0.275|0.275	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.06789|0.06789	-1.0807|-1.0807	5|10	.|0.40728	.|T	.|0.16	.|.	3.6861|3.6861	0.08328|0.08328	0.0:0.197:0.1923:0.6107|0.0:0.197:0.1923:0.6107	.|.	.|367	.|P14373	.|TRI27_HUMAN	R|V	101|367	.|ENSP00000366404:I367V	.|ENSP00000366404:I367V	H|I	-|-	2|1	0|0	TRIM27|TRIM27	28980269|28980269	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	-1.166000|-1.166000	0.03129|0.03129	0.967000|0.967000	0.38186|0.38186	0.528000|0.528000	0.53228|0.53228	CAT|ATC	-	TRIM27	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.522	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	0	0	0	80	80	143	0.00	0.00	T	NM_030950		28872290	-1	24	35	47	68	tier1	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	33.80	33.98	SNP	0.999	C	24	47
BACH2	60468	genome.wustl.edu	37	6	90660542	90660542	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:90660542C>A	ENST00000257749.4	-	7	1990	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.R428L|BACH2_ENST00000537989.1_Missense_Mutation_p.R428L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	428						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CACGCTCCTCCGGTCCAGCTC	0.602													ENSG00000112182																																					0													31.0	34.0	33.0					6																	90660542		2202	4295	6497	SO:0001583	missense	0			-	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1283G>T	6.37:g.90660542C>A	ENSP00000257749:p.Arg428Leu		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_D-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.R428L	ENST00000257749.4	37	c.1283	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354812	0.82243	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.59364	0.27;0.27;0.27	5.56	5.56	0.83823	.	0.050428	0.85682	D	0.000000	T	0.60650	0.2285	L	0.29908	0.895	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	T	0.60326	-0.7285	10	0.42905	T	0.14	-15.8809	19.5376	0.95260	0.0:1.0:0.0:0.0	.	428	Q9BYV9	BACH2_HUMAN	L	428	ENSP00000257749:R428L;ENSP00000437473:R428L;ENSP00000345642:R428L	ENSP00000257749:R428L	R	-	2	0	BACH2	90717263	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.620000	0.88729	0.655000	0.94253	CGG	-	BACH2	-	NULL		0.602	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	0	0	0	59	59	38	0.00	0.00	C	NM_021813		90660542	-1	13	8	28	22	tier1	no_errors	ENST00000257749	ensembl	human	known	74_37	missense	31.71	26.67	SNP	1.000	A	13	28
CYP2S1	29785	genome.wustl.edu	37	19	41704520	41704520	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41704520G>A	ENST00000310054.4	+	4	863	c.647G>A	c.(646-648)gGg>gAg	p.G216E	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	216					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						AGCTCCCAGGGGGGTCAGGTG	0.617													ENSG00000167600																																					0													69.0	66.0	67.0					19																	41704520		2203	4300	6503	SO:0001583	missense	0			-	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.647G>A	19.37:g.41704520G>A	ENSP00000308032:p.Gly216Glu		Q9BZ66	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.G216E	ENST00000310054.4	37	c.647	CCDS12573.1	19	.	.	.	.	.	.	.	.	.	.	g	15.52	2.858685	0.51376	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.67345	-0.26	5.06	4.02	0.46733	.	0.634502	0.15915	U	0.238422	T	0.61937	0.2387	L	0.33624	1.015	0.80722	D	1	P	0.48998	0.918	P	0.49140	0.601	T	0.62124	-0.6920	10	0.66056	D	0.02	.	9.2983	0.37829	0.1008:0.0:0.8992:0.0	.	216	Q96SQ9	CP2S1_HUMAN	E	216	ENSP00000308032:G216E	ENSP00000301173:G216E	G	+	2	0	CYP2S1	46396360	1.000000	0.71417	0.963000	0.40424	0.579000	0.36224	1.630000	0.37081	1.128000	0.42052	0.306000	0.20318	GGG	-	CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B		0.617	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	0	0	0	46	46	69	0.00	0.00	G			41704520	+1	30	32	19	37	tier1	no_errors	ENST00000310054	ensembl	human	known	74_37	missense	61.22	45.71	SNP	0.990	A	30	19
KCNT2	343450	genome.wustl.edu	37	1	196300353	196300353	+	Missense_Mutation	SNP	C	C	T	rs267598261		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:196300353C>T	ENST00000294725.9	-	18	2951	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	KCNT2_ENST00000609185.1_Missense_Mutation_p.G629E|KCNT2_ENST00000367431.4_Missense_Mutation_p.G629E|KCNT2_ENST00000451324.2_Missense_Mutation_p.G290E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.G679E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	679					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGTGAACTTCCTATATATGG	0.323													ENSG00000162687																																					0													155.0	171.0	165.0					1																	196300353		2203	4294	6497	SO:0001583	missense	0			-	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2036G>A	1.37:g.196300353C>T	ENSP00000294725:p.Gly679Glu		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.G679E	ENST00000294725.9	37	c.2036	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880640	0.91740	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	D	0.96318	0.8799	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;0.998	D	0.96399	0.9295	10	0.59425	D	0.04	-22.352	19.0484	0.93032	0.0:1.0:0.0:0.0	.	679;661;679;629;679	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	E	679;629;500;290;679	ENSP00000356403:G679E;ENSP00000356401:G629E;ENSP00000405474:G290E;ENSP00000294725:G679E	ENSP00000294725:G679E	G	-	2	0	KCNT2	194566976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.745000	0.94114	0.484000	0.47621	GGA	-	KCNT2	-	NULL		0.323	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	0	0	0	121	121	94	0.00	0.00	C	NM_198503		196300353	-1	43	36	64	45	tier1	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	40.19	44.44	SNP	1.000	T	43	64
CNTNAP2	26047	genome.wustl.edu	37	7	148117977	148117977	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:148117977G>A	ENST00000361727.3	+	0	9781				CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGAAAGAAGGAAATTATGTA	0.274										HNSCC(39;0.1)			ENSG00000174469																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.*5269G>A	7.37:g.148117977G>A			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	R	SNP	-	NULL	ENST00000361727.3	37	NULL	CCDS5889.1	7																																																																																			-	CNTP2	-	-		0.274	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTP2	HGNC	protein_coding	OTTHUMT00000327668.1	0	0	0	212	212	99	0.00	0.00	G			148117977	+1	50	30	126	44	tier1	no_errors	ENST00000463592	ensembl	human	known	74_37	rna	28.41	40.54	SNP	1.000	A	50	126
CACNA2D3	55799	genome.wustl.edu	37	3	54925446	54925446	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:54925446C>T	ENST00000474759.1	+	25	2263	c.2215C>T	c.(2215-2217)Ctg>Ttg	p.L739L	CACNA2D3_ENST00000490478.1_Silent_p.L645L|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Silent_p.L739L|CACNA2D3_ENST00000415676.2_Silent_p.L739L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	739						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CAGAATCAACCTGTTTGTCGG	0.542													ENSG00000157445																																					0													55.0	56.0	56.0					3																	54925446		1872	4090	5962	SO:0001819	synonymous_variant	0			-	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2215C>T	3.37:g.54925446C>T			B2RPL6|Q9NY16|Q9NY18	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L739	ENST00000474759.1	37	c.2215	CCDS54598.1	3																																																																																			-	CAC2D3	-	NULL		0.542	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC2D3	HGNC	protein_coding	OTTHUMT00000351402.1	0	0	0	64	64	74	0.00	0.00	C			54925446	+1	27	37	52	51	tier1	no_errors	ENST00000288197	ensembl	human	known	74_37	silent	34.18	42.05	SNP	1.000	T	27	52
KCNMB1	3779	genome.wustl.edu	37	5	169810766	169810766	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:169810766G>A	ENST00000274629.4	-	3	665	c.223C>T	c.(223-225)Cca>Tca	p.P75S	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.P75S	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	75					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CACAGGCATGGGTACTGGGGC	0.602													ENSG00000145936																																					0													137.0	105.0	116.0					5																	169810766		2203	4300	6503	SO:0001583	missense	0			-	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.223C>T	5.37:g.169810766G>A	ENSP00000274629:p.Pro75Ser		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu	p.P75S	ENST00000274629.4	37	c.223	CCDS4373.1	5	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847989	0.71603	.	.	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.32753	1.44;1.44	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	M	0.77313	2.365	0.58432	D	0.999999	D;P	0.89917	1.0;0.568	D;B	0.91635	0.999;0.168	T	0.56763	-0.7925	9	.	.	.	.	15.3412	0.74300	0.0:0.0:1.0:0.0	.	75;75	Q16558-2;Q16558	.;KCMB1_HUMAN	S	75	ENSP00000274629:P75S;ENSP00000427940:P75S	.	P	-	1	0	KCNMB1	169743344	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	6.846000	0.75399	2.683000	0.91414	0.655000	0.94253	CCA	-	KCNMB1	-	pfam_K_chnl_Ca-activ_BK_bsu		0.602	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB1	HGNC	protein_coding	OTTHUMT00000252830.3	0	0	0	81	81	85	0.00	0.00	G			169810766	-1	32	25	19	25	tier1	no_errors	ENST00000274629	ensembl	human	known	74_37	missense	62.75	50.00	SNP	1.000	A	32	19
SGSM1	129049	genome.wustl.edu	37	22	25255731	25255731	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:25255731G>A	ENST00000400359.4	+	9	857	c.850G>A	c.(850-852)Gct>Act	p.A284T	SGSM1_ENST00000400358.4_Missense_Mutation_p.A284T	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	284						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCACCAGACGGCTGACGTCAT	0.587													ENSG00000167037																																					0													99.0	101.0	100.0					22																	25255731		2076	4212	6288	SO:0001583	missense	0			-	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.850G>A	22.37:g.25255731G>A	ENSP00000383212:p.Ala284Thr		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.A284T	ENST00000400359.4	37	c.850	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.067625	0.93898	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08008	3.14;3.15	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.995;0.991;0.997	D;D;D;P;D	0.77004	0.986;0.985;0.977;0.76;0.989	T	0.00670	-1.1617	10	0.44086	T	0.13	-1.7495	16.8706	0.86039	0.0:0.0:1.0:0.0	.	284;400;417;284;259	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	T	400;284;284	ENSP00000383211:A284T;ENSP00000383212:A284T	ENSP00000383211:A284T	A	+	1	0	SGSM1	23585731	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	9.262000	0.95591	2.286000	0.76751	0.655000	0.94253	GCT	-	SGSM1	-	NULL		0.587	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	0	0	0	89	89	79	0.00	0.00	G	XM_059318		25255731	+1	28	41	60	56	tier1	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	31.46	41.84	SNP	1.000	A	28	60
ZFHX3	463	genome.wustl.edu	37	16	72830075	72830075	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:72830075G>A	ENST00000268489.5	-	9	7178	c.6506C>T	c.(6505-6507)tCc>tTc	p.S2169F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1255F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2169					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCACTGGGGGAGTTGTTAAT	0.502													ENSG00000140836																																					0													90.0	87.0	88.0					16																	72830075		2198	4300	6498	SO:0001583	missense	0			-	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6506C>T	16.37:g.72830075G>A	ENSP00000268489:p.Ser2169Phe		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S2169F	ENST00000268489.5	37	c.6506	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300102	0.60195	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.96300	-3.97;-3.97	5.51	5.51	0.81932	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.49916	D	0.000133	D	0.96670	0.8913	L	0.28556	0.865	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.96107	0.9074	10	0.33940	T	0.23	.	19.4092	0.94662	0.0:0.0:1.0:0.0	.	2169	Q15911	ZFHX3_HUMAN	F	2169;1255	ENSP00000268489:S2169F;ENSP00000438926:S1255F	ENSP00000268489:S2169F	S	-	2	0	ZFHX3	71387576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.570000	0.86706	0.561000	0.74099	TCC	-	ZFHX3	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.502	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	0	0	0	51	51	69	0.00	0.00	G	NM_006885		72830075	-1	28	35	16	35	tier1	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	63.64	50.00	SNP	1.000	A	28	16
SCN11A	11280	genome.wustl.edu	37	3	38924861	38924861	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38924861G>A	ENST00000302328.3	-	18	3280	c.3082C>T	c.(3082-3084)Cca>Tca	p.P1028S	SCN11A_ENST00000444237.2_Missense_Mutation_p.P1028S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P990S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P1028S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1028					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTACAGCATGGAAAGCAGCAA	0.443													ENSG00000168356																																					0													86.0	81.0	82.0					3																	38924861		2203	4300	6503	SO:0001583	missense	0			-	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3082C>T	3.37:g.38924861G>A	ENSP00000307599:p.Pro1028Ser		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.P1028S	ENST00000302328.3	37	c.3082	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813306	0.32053	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.57	3.77	0.43336	Sodium ion transport-associated (1);	0.401280	0.28198	N	0.016233	T	0.79673	0.4486	L	0.52573	1.65	0.09310	N	0.999995	B	0.30068	0.267	B	0.30495	0.116	T	0.66905	-0.5805	10	0.32370	T	0.25	.	9.7709	0.40589	0.0747:0.1399:0.7853:0.0	.	1028	Q9UI33	SCNBA_HUMAN	S	1028;1028;990;1028	ENSP00000307599:P1028S;ENSP00000400945:P1028S;ENSP00000416757:P990S;ENSP00000408028:P1028S	ENSP00000307599:P1028S	P	-	1	0	SCN11A	38899865	1.000000	0.71417	0.002000	0.10522	0.392000	0.30506	2.974000	0.49272	0.811000	0.34303	0.655000	0.94253	CCA	-	SCN11A	-	pfam_Na_trans_assoc		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	0	0	0	43	43	111	0.00	0.00	G	NM_014139		38924861	-1	22	53	32	60	tier1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	40.74	46.90	SNP	0.248	A	22	32
KLKB1	3818	genome.wustl.edu	37	4	187171550	187171550	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:187171550C>T	ENST00000264690.6	+	7	939	c.752C>T	c.(751-753)tCa>tTa	p.S251L	KLKB1_ENST00000513864.1_Missense_Mutation_p.S251L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	251	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AAAATCGAGTCACAAAGGCGA	0.438													ENSG00000164344																																					0													139.0	123.0	128.0					4																	187171550		2203	4300	6503	SO:0001583	missense	0			-	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.752C>T	4.37:g.187171550C>T	ENSP00000264690:p.Ser251Leu		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.S251L	ENST00000264690.6	37	c.752	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.91|15.91	2.973179|2.973179	0.53614|0.53614	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.89681	.|-2.55;-2.51	4.1|4.1	4.1|4.1	0.47936|0.47936	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.649587	.|0.14239	.|N	.|0.332222	D|D	0.90518|0.90518	0.7029|0.7029	L|L	0.60455|0.60455	1.87|1.87	0.27079|0.27079	N|N	0.963147|0.963147	.|D;D	.|0.62365	.|0.991;0.967	.|P;P	.|0.59424	.|0.857;0.812	T|T	0.82598|0.82598	-0.0378|-0.0378	5|10	.|0.46703	.|T	.|0.11	.|.	7.1951|7.1951	0.25847|0.25847	0.0:0.7331:0.1742:0.0926|0.0:0.7331:0.1742:0.0926	.|.	.|213;251	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	Y|L	299|251;251;213	.|ENSP00000264690:S251L;ENSP00000424469:S251L	.|ENSP00000264690:S251L	H|S	+|+	1|2	0|0	KLKB1|KLKB1	187408544|187408544	0.329000|0.329000	0.24696|0.24696	0.629000|0.629000	0.29254|0.29254	0.112000|0.112000	0.19704|0.19704	3.058000|3.058000	0.49939|0.49939	2.096000|2.096000	0.63516|0.63516	0.298000|0.298000	0.19748|0.19748	CAC|TCA	-	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app		0.438	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	0	0	0	77	77	100	0.00	0.00	C	NM_000892		187171550	+1	32	31	31	36	tier1	no_errors	ENST00000264690	ensembl	human	known	74_37	missense	50.79	46.27	SNP	0.750	T	32	31
TNXB	7148	genome.wustl.edu	37	6	32039915	32039915	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:32039915C>T	ENST00000375244.3	-	13	5043	c.4842G>A	c.(4840-4842)agG>agA	p.R1614R	TNXB_ENST00000375247.2_Silent_p.R1614R			P22105	TENX_HUMAN	tenascin XB	1696	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCGTCCCTGTCCTTGT	0.587													ENSG00000168477																																					0													26.0	28.0	27.0					6																	32039915		1952	4129	6081	SO:0001819	synonymous_variant	0			-	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4842G>A	6.37:g.32039915C>T			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1614	ENST00000375244.3	37	c.4842		6																																																																																			-	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.587	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	0	0	0	50	50	59	0.00	0.00	C	NM_019105		32039915	-1	10	16	35	26	tier1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	22.22	38.10	SNP	0.987	T	10	35
DZIP3	9666	genome.wustl.edu	37	3	108406846	108406846	+	Missense_Mutation	SNP	G	G	A	rs138409858	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:108406846G>A	ENST00000361582.3	+	29	3403	c.3173G>A	c.(3172-3174)cGg>cAg	p.R1058Q	DZIP3_ENST00000463306.1_Missense_Mutation_p.R1058Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1058					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GATTTCTTACGGAAATTGAAG	0.383													ENSG00000198919	G|||	4	0.000798722	0.003	0.0	5008	,	,		18562	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	89.0	86.0	87.0		3173	3.6	1.0	3	dbSNP_134	87	2,8598	1.2+/-3.3	0,2,4298	no	missense	DZIP3	NM_014648.3	43	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	1058/1209	108406846	4,13002	2203	4300	6503	SO:0001583	missense	0			-	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3173G>A	3.37:g.108406846G>A	ENSP00000355028:p.Arg1058Gln		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R1058Q	ENST00000361582.3	37	c.3173	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342064	0.24339	4.54E-4	2.33E-4	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.14893	2.47;2.47	5.45	3.57	0.40892	.	0.309652	0.22974	N	0.053383	T	0.07548	0.0190	N	0.12182	0.205	0.23468	N	0.997612	B;B	0.16603	0.015;0.018	B;B	0.10450	0.005;0.003	T	0.39663	-0.9603	10	0.10636	T	0.68	-3.0104	6.2499	0.20839	0.2447:0.0:0.7553:0.0	.	676;1058	D3DN61;Q86Y13	.;DZIP3_HUMAN	Q	1058	ENSP00000355028:R1058Q;ENSP00000419981:R1058Q	ENSP00000355028:R1058Q	R	+	2	0	DZIP3	109889536	0.992000	0.36948	0.955000	0.39395	0.648000	0.38561	1.539000	0.36104	0.762000	0.33152	0.655000	0.94253	CGG	rs138409858	DZIP3	-	NULL		0.383	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	0	0	0	139	139	98	0.00	0.00	G	NM_014648		108406846	+1	51	47	89	58	tier1	no_errors	ENST00000361582	ensembl	human	known	74_37	missense	36.43	43.93	SNP	0.993	A	51	89
ZFHX4	79776	genome.wustl.edu	37	8	77763442	77763442	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:77763442C>T	ENST00000521891.2	+	10	4733	c.4285C>T	c.(4285-4287)Ctc>Ttc	p.L1429F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1403F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1384F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1384F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGTGTAACCTCTGCCAGCG	0.458										HNSCC(33;0.089)			ENSG00000091656																																					0													48.0	45.0	46.0					8																	77763442		1933	4138	6071	SO:0001583	missense	0			-		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4285C>T	8.37:g.77763442C>T	ENSP00000430497:p.Leu1429Phe		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L1429F	ENST00000521891.2	37	c.4285	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835518	0.50951	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.39341	U	0.001382	T	0.47021	0.1423	L	0.34521	1.04	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.998	T	0.47861	-0.9084	10	0.72032	D	0.01	.	18.4109	0.90550	0.0:1.0:0.0:0.0	.	1384;1384;1429	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	F	1429;1429;1384;1384;1403	ENSP00000430497:L1429F;ENSP00000399605:L1384F;ENSP00000050961:L1384F;ENSP00000430848:L1403F	ENSP00000050961:L1384F	L	+	1	0	ZFHX4	77925997	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.582000	0.60957	2.589000	0.87451	0.549000	0.68633	CTC	-	ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	0	0	0	70	70	106	0.00	0.00	C	NM_024721		77763442	+1	26	31	47	63	tier1	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	35.62	32.98	SNP	1.000	T	26	47
BCO1	53630	genome.wustl.edu	37	16	81295770	81295770	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:81295770C>T	ENST00000258168.2	+	4	814	c.353C>T	c.(352-354)cCc>cTc	p.P118L	BCMO1_ENST00000564552.1_Missense_Mutation_p.P118L|BCMO1_ENST00000425577.2_Missense_Mutation_p.P49L	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CACACCATCCCCGATTTCACC	0.488													ENSG00000135697																																					0													182.0	174.0	177.0					16																	81295770		2202	4300	6502	SO:0001583	missense	0			-																												ENST00000258168.2:c.353C>T	16.37:g.81295770C>T	ENSP00000258168:p.Pro118Leu			Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.P118L	ENST00000258168.2	37	c.353	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.172632	0.94807	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94537	-3.45;-3.26	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.97235	0.9887	10	0.45353	T	0.12	-27.0326	19.2875	0.94084	0.0:1.0:0.0:0.0	.	49;118;49	E7EM88;Q9HAY6;B4DJC0	.;BCDO1_HUMAN;.	L	118;49	ENSP00000258168:P118L;ENSP00000400586:P49L	ENSP00000258168:P118L	P	+	2	0	BCMO1	79853271	1.000000	0.71417	0.973000	0.42090	0.909000	0.53808	5.705000	0.68355	2.554000	0.86153	0.549000	0.68633	CCC	-	BCMO1	-	pfam_Carotenoid_Oase		0.488	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1	0	0	0	73	73	79	0.00	0.00	C			81295770	+1	36	25	48	55	tier1	no_errors	ENST00000258168	ensembl	human	known	74_37	missense	42.86	31.25	SNP	1.000	T	36	48
CASR	846	genome.wustl.edu	37	3	121980842	121980842	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:121980842C>T	ENST00000490131.1	+	4	1332	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CASR_ENST00000296154.5_Silent_p.F320F|CASR_ENST00000498619.1_Silent_p.F320F	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	320					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCATTGGATTCGCTCTGAAGG	0.577													ENSG00000036828																																					0													56.0	50.0	52.0					3																	121980842		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.960C>T	3.37:g.121980842C>T			Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.F320	ENST00000490131.1	37	c.960	CCDS3010.1	3																																																																																			-	CASR	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	0	0	0	53	53	91	0.00	0.00	C	NM_000388		121980842	+1	19	26	46	51	tier1	no_errors	ENST00000498619	ensembl	human	known	74_37	silent	29.23	33.77	SNP	0.980	T	19	46
ANK3	288	genome.wustl.edu	37	10	61831215	61831215	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:61831215G>A	ENST00000280772.2	-	37	9615	c.9424C>T	c.(9424-9426)Cct>Tct	p.P3142S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3142					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGGAGAAGGAGGTTGCTTT	0.428													ENSG00000151150																																					0													122.0	130.0	128.0					10																	61831215		2203	4300	6503	SO:0001583	missense	0			-	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9424C>T	10.37:g.61831215G>A	ENSP00000280772:p.Pro3142Ser		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P3142S	ENST00000280772.2	37	c.9424	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660529	0.14645	.	.	ENSG00000151150	ENST00000280772	T	0.62364	0.03	5.36	5.36	0.76844	.	0.172968	0.27821	N	0.017710	T	0.44912	0.1316	N	0.25647	0.755	0.80722	D	1	B	0.33528	0.416	B	0.25884	0.064	T	0.49204	-0.8964	10	0.02654	T	1	.	19.0744	0.93154	0.0:0.0:1.0:0.0	.	3142	Q12955	ANK3_HUMAN	S	3142	ENSP00000280772:P3142S	ENSP00000280772:P3142S	P	-	1	0	ANK3	61501221	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.128000	0.64733	2.515000	0.84797	0.462000	0.41574	CCT	-	ANK3	-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	0	0	0	113	113	166	0.00	0.00	G	NM_020987		61831215	-1	67	58	27	40	tier1	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	71.28	59.18	SNP	1.000	A	67	27
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)	TTCAGCTCTCGGAACATCTCG	0.557		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"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	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.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		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	Nonsense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	-	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	22	22	84	0.00	0.00	G	NM_000546		7574003	-1	13	29	2	34	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	86.67	46.03	SNP	0.307	A	13	2
PHLDB2	90102	genome.wustl.edu	37	3	111604063	111604063	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:111604063G>A	ENST00000431670.2	+	2	1550	c.1139G>A	c.(1138-1140)aGg>aAg	p.R380K	PHLDB2_ENST00000481953.1_Missense_Mutation_p.R380K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R380K|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R380K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R407K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R380K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R380K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	380						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTTGCGACCAGGAGGAACTTC	0.517													ENSG00000144824																																					0													86.0	86.0	86.0					3																	111604063		2203	4300	6503	SO:0001583	missense	0			-		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1139G>A	3.37:g.111604063G>A	ENSP00000405405:p.Arg380Lys		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R380K	ENST00000431670.2	37	c.1139	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898929	0.33535	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.36340	1.26;1.31;1.28;1.28;1.31;1.28	5.78	4.91	0.64330	.	0.240234	0.43919	N	0.000509	T	0.32675	0.0837	M	0.62723	1.935	0.30947	N	0.725219	B;B;P;B;B	0.41131	0.002;0.003;0.739;0.073;0.167	B;B;B;B;B	0.36464	0.004;0.006;0.225;0.053;0.079	T	0.45614	-0.9249	10	0.42905	T	0.14	.	9.1171	0.36764	0.1654:0.0:0.8346:0.0	.	380;380;380;380;407	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	K	407;407;380;380;380;380;380;380;380	ENSP00000377500:R407K;ENSP00000405405:R380K;ENSP00000405292:R380K;ENSP00000418296:R380K;ENSP00000377502:R380K;ENSP00000418319:R380K	ENSP00000352764:R407K	R	+	2	0	PHLDB2	113086753	1.000000	0.71417	0.919000	0.36401	0.449000	0.32228	4.054000	0.57434	1.592000	0.50018	0.655000	0.94253	AGG	-	PHLDB2	-	NULL		0.517	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	0	0	0	32	32	129	0.00	0.00	G	NM_145753		111604063	+1	16	55	26	81	tier1	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	38.10	40.44	SNP	0.893	A	16	26
MUC5B	727897	genome.wustl.edu	37	11	1267498	1267498	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1267498G>A	ENST00000529681.1	+	31	9446	c.9388G>A	c.(9388-9390)Ggg>Agg	p.G3130R	MUC5B_ENST00000447027.1_Missense_Mutation_p.G3133R|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3130	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCACTCCGGGGACGACCTG	0.657													ENSG00000117983																																					0													75.0	98.0	91.0					11																	1267498		2073	4193	6266	SO:0001583	missense	0			-	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9388G>A	11.37:g.1267498G>A	ENSP00000436812:p.Gly3130Arg		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G3133R	ENST00000529681.1	37	c.9397	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	3.191	-0.165774	0.06461	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000538459	T;T	0.24908	1.83;2.01	1.66	0.72	0.18214	.	.	.	.	.	T	0.14874	0.0359	L	0.29908	0.895	0.09310	N	1	B;B	0.32010	0.159;0.351	B;B	0.21708	0.015;0.036	T	0.18429	-1.0337	9	0.87932	D	0	.	5.3688	0.16129	0.4144:0.0:0.5856:0.0	.	3713;3133	A7Y9J9;E9PBJ0	.;.	R	3130;3133;3102;3090;20	ENSP00000436812:G3130R;ENSP00000415793:G3133R	ENSP00000343037:G3102R	G	+	1	0	MUC5B	1224074	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.371000	0.07513	0.282000	0.22254	0.186000	0.17326	GGG	-	MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0	0	67	67	56	0.00	0.00	G	XM_001126093		1267498	+1	6	4	43	25	tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	12.24	13.79	SNP	0.000	A	6	43
ATAD3B	83858	genome.wustl.edu	37	1	1425758	1425758	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:1425758C>T	ENST00000308647.7	+	14	1575	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	487						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGGTGAGACTGCATTTTGA	0.587													ENSG00000160072																																					0													75.0	65.0	69.0					1																	1425758		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1459C>T	1.37:g.1425758C>T			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L487	ENST00000308647.7	37	c.1459	CCDS30.1	1																																																																																			-	ATAD3B	-	superfamily_P-loop_NTPase		0.587	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	0	0	0	128	128	60	0.00	0.00	C	NM_031921		1425758	+1	68	36	69	24	tier1	no_errors	ENST00000308647	ensembl	human	known	74_37	silent	49.64	60.00	SNP	0.989	T	68	69
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72657937	72657937	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:72657937C>T	ENST00000425256.1	-	0	1974									GTF2I repeat domain containing 2 pseudogene 1																		gcaggggtttccctctggatg	0.488													ENSG00000214544																																					0																																												0			-	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657937C>T				R	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			-	GTF2IRD2P1	-	-		0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	1	1	0	104	104	62	0.95	0.00	C	NR_002164		72657937	-1	22	17	63	23	tier1	no_errors	ENST00000425256	ensembl	human	known	74_37	rna	25.88	42.50	SNP	0.834	T	22	63
UBE2V2	7336	genome.wustl.edu	37	8	48973359	48973359	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:48973359C>T	ENST00000523111.2	+	4	464	c.409C>T	c.(409-411)Cca>Tca	p.P137S	UBE2V2_ENST00000521346.1_Missense_Mutation_p.P97S|UBE2V2_ENST00000520809.1_Missense_Mutation_p.P97S|UBE2V2_ENST00000517630.1_Missense_Mutation_p.P97S	NM_003350.2	NP_003341.1	Q15819	UB2V2_HUMAN	ubiquitin-conjugating enzyme E2 variant 2	137					cell proliferation (GO:0008283)|DNA double-strand break processing (GO:0000729)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of DNA repair (GO:0045739)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of synapse assembly (GO:0051965)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of DNA repair (GO:0006282)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|UBC13-MMS2 complex (GO:0031372)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				GCTTCCACAGCCACCAGAAGG	0.333								Rad6 pathway					ENSG00000169139																																					0													75.0	72.0	73.0					8																	48973359		1895	4111	6006	SO:0001583	missense	0			-	X98091	CCDS43738.1	8q11.21	2008-02-05			ENSG00000169139	ENSG00000169139		"""Ubiquitin-conjugating enzymes E2"""	12495	protein-coding gene	gene with protein product		603001				9418904, 9199207	Standard	NM_003350		Approved	UEV-2, DDVit-1, EDPF-1, MMS2	uc003xqm.3	Q15819	OTTHUMG00000164206	ENST00000523111.2:c.409C>T	8.37:g.48973359C>T	ENSP00000428209:p.Pro137Ser			Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P137S	ENST00000523111.2	37	c.409	CCDS43738.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.187642|4.187642	0.78789|0.78789	.|.	.|.	ENSG00000169139|ENSG00000169139	ENST00000324746|ENST00000523111;ENST00000521346;ENST00000517630;ENST00000520809;ENST00000520595;ENST00000521628	.|T;T;T;T	.|0.14144	.|2.53;2.53;2.53;2.53	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	.|0.046552	.|0.85682	.|D	.|0.000000	T|T	0.53867|0.53867	0.1823|0.1823	H|H	0.97077|0.97077	3.935|3.935	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.69142	.|0.962	T|T	0.70730|0.70730	-0.4792|-0.4792	5|10	.|0.87932	.|D	.|0	-17.6504|-17.6504	19.5281|19.5281	0.95214|0.95214	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|137	.|Q15819	.|UB2V2_HUMAN	V|S	90|137;97;97;97;50;50	.|ENSP00000428209:P137S;ENSP00000428818:P97S;ENSP00000429886:P97S;ENSP00000429419:P97S	.|ENSP00000429886:P97S	A|P	+|+	2|1	0|0	UBE2V2|UBE2V2	49135912|49135912	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.293000|7.293000	0.78740|0.78740	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	UBE2V2	-	superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.333	UBE2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2V2	HGNC	protein_coding	OTTHUMT00000377808.3	0	0	0	134	134	91	0.00	0.00	C	NM_003350		48973359	+1	44	41	76	58	tier1	no_errors	ENST00000523111	ensembl	human	known	74_37	missense	36.67	41.41	SNP	1.000	T	44	76
PNPLA1	285848	genome.wustl.edu	37	6	36269799	36269799	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:36269799G>A	ENST00000394571.2	+	6	937	c.937G>A	c.(937-939)Gag>Aag	p.E313K	PNPLA1_ENST00000388715.3_Missense_Mutation_p.E218K|PNPLA1_ENST00000312917.5_Missense_Mutation_p.E227K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	313					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCTCACAAGGAGTGGGTTCC	0.577											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000180316																																					0													83.0	84.0	84.0					6																	36269799		2203	4300	6503	SO:0001583	missense	0			-		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.937G>A	6.37:g.36269799G>A	ENSP00000378072:p.Glu313Lys	861	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.E314K	ENST00000394571.2	37	c.940	CCDS54997.1	6	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193656	0.38707	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.29142	1.8;1.8;1.58;1.58	5.54	2.47	0.30058	.	16.389200	0.00166	U	0.000016	T	0.09158	0.0226	N	0.14661	0.345	0.09310	N	1	B;B	0.24426	0.035;0.103	B;B	0.28011	0.027;0.085	T	0.21211	-1.0252	10	0.40728	T	0.16	-0.7136	8.7798	0.34785	0.1431:0.3886:0.4683:0.0	.	313;227	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	K	218;227;314;313	ENSP00000373367:E218K;ENSP00000321116:E227K;ENSP00000391868:E314K;ENSP00000378072:E313K	ENSP00000321116:E227K	E	+	1	0	PNPLA1	36377777	0.001000	0.12720	0.002000	0.10522	0.038000	0.13279	0.894000	0.28350	1.315000	0.45114	-0.219000	0.12488	GAG	-	PNPLA1	-	NULL		0.577	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding		0	0	0	39	39	74	0.00	0.00	G	NM_173676		36269799	+1	10	8	17	42	tier1	no_errors	ENST00000457797	ensembl	human	known	74_37	missense	37.04	16.00	SNP	0.000	A	10	17
LRRC7	57554	genome.wustl.edu	37	1	70488809	70488809	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:70488809G>A	ENST00000035383.5	+	15	1462	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	RP11-181B18.1_ENST00000414132.1_RNA|RP11-181B18.1_ENST00000425754.1_RNA|LRRC7_ENST00000310961.5_Splice_Site_p.D483N|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	478						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTCCCACAGGATCTCTCCTG	0.502													ENSG00000033122																																					0													43.0	42.0	42.0					1																	70488809		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1432-1G>A	1.37:g.70488809G>A			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D478N	ENST00000035383.5	37	c.1432	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309970	0.23821	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37058	1.22;1.29	5.55	5.55	0.83447	.	0.504333	0.21672	N	0.070854	T	0.09512	0.0234	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.14090	-1.0485	9	.	.	.	.	15.0088	0.71533	0.0:0.0:1.0:0.0	.	478	Q96NW7	LRRC7_HUMAN	N	483;478;301	ENSP00000309245:D483N;ENSP00000035383:D478N	.	D	+	1	0	LRRC7	70261397	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.453000	0.60061	2.618000	0.88619	0.467000	0.42956	GAT	-	LRRC7	-	NULL		0.502	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	0	0	0	42	42	66	0.00	0.00	G	NM_020794	Missense_Mutation	70488809	+1	25	44	26	26	tier1	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	49.02	62.86	SNP	1.000	A	25	26
SLC14A1	6563	genome.wustl.edu	37	18	43310340	43310340	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:43310340G>A	ENST00000321925.4	+	3	287	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	SLC14A1_ENST00000589700.1_Missense_Mutation_p.E19K|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.E75K|SLC14A1_ENST00000535474.1_Intron|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.E19K|SLC14A1_ENST00000415427.3_Missense_Mutation_p.E75K	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	19					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGTTAGGGGTGAAAACCAGGT	0.507													ENSG00000141469																																					0													122.0	105.0	111.0					18																	43310340		2203	4300	6503	SO:0001583	missense	0			-	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.55G>A	18.37:g.43310340G>A	ENSP00000318546:p.Glu19Lys		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.E75K	ENST00000321925.4	37	c.223	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007541	0.35415	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000436407	T;T;T	0.47869	0.87;0.83;0.83	5.68	4.81	0.61882	.	0.683152	0.14598	N	0.309831	T	0.48352	0.1495	M	0.74881	2.28	0.80722	D	1	P;B	0.38504	0.634;0.161	B;B	0.39258	0.295;0.104	T	0.37753	-0.9692	10	0.22109	T	0.4	-23.1109	10.4712	0.44638	0.0892:0.0:0.9108:0.0	.	75;19	Q13336-2;Q13336	.;UT1_HUMAN	K	19;75;75	ENSP00000318546:E19K;ENSP00000412309:E75K;ENSP00000390637:E75K	ENSP00000318546:E19K	E	+	1	0	SLC14A1	41564338	0.996000	0.38824	0.249000	0.24280	0.714000	0.41099	4.004000	0.57068	1.411000	0.46957	0.655000	0.94253	GAA	-	SLC14A1	-	NULL		0.507	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	0	0	0	67	67	156	0.00	0.00	G	NM_015865		43310340	+1	39	86	22	28	tier1	no_errors	ENST00000415427	ensembl	human	known	74_37	missense	63.93	75.44	SNP	0.662	A	39	22
SPRY1	10252	genome.wustl.edu	37	4	124322809	124322809	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:124322809G>A	ENST00000394339.2	+	2	403	c.63G>A	c.(61-63)ttG>ttA	p.L21L	SPRY1_ENST00000339241.1_Silent_p.L21L	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	21					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGCCTTCTTTGGATAGCCGTC	0.458													ENSG00000164056																																					0													182.0	193.0	189.0					4																	124322809		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.63G>A	4.37:g.124322809G>A			D3DNX6|Q6PNE0	Silent	SNP	pfam_Sprouty	p.L21	ENST00000394339.2	37	c.63	CCDS3731.1	4																																																																																			-	SPRY1	-	NULL		0.458	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	0	0	0	52	52	129	0.00	0.00	G			124322809	+1	29	44	13	39	tier1	no_errors	ENST00000339241	ensembl	human	known	74_37	silent	69.05	53.01	SNP	0.999	A	29	13
ARMC4	55130	genome.wustl.edu	37	10	28233361	28233361	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:28233361C>T	ENST00000305242.5	-	12	1626		c.e12-1		ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Splice_Site|ARMC4_ENST00000545014.1_Splice_Site	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4						cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGAACCAATCTGTGTGAGAA	0.338													ENSG00000169126																																					1	Unknown(1)	lung(1)											56.0	57.0	57.0					10																	28233361		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1534-1G>A	10.37:g.28233361C>T			A8K906|B7Z7I1|Q9H0C0	Splice_Site	SNP	-	e11-1	ENST00000305242.5	37	c.1534-1	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395598	0.83011	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014;ENST00000537573	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3943	0.94601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARMC4	28273367	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.479000	0.81095	2.671000	0.90904	0.585000	0.79938	.	-	ARMC4	-	-		0.338	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	0	0	0	80	80	94	0.00	0.00	C	NM_018076	Intron	28233361	-1	20	45	35	99	tier1	no_errors	ENST00000305242	ensembl	human	known	74_37	splice_site	36.36	31.03	SNP	1.000	T	20	35
FCN2	2220	genome.wustl.edu	37	9	137779172	137779172	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:137779172G>A	ENST00000291744.6	+	8	863	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	FCN2_ENST00000350339.2_Missense_Mutation_p.G247S	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	285	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGGACTCATGGCAGCTTTGC	0.507													ENSG00000160339																																					0													88.0	86.0	87.0					9																	137779172		2203	4300	6503	SO:0001583	missense	0			-	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.853G>A	9.37:g.137779172G>A	ENSP00000291744:p.Gly285Ser		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G285S	ENST00000291744.6	37	c.853	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746596	0.03065	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.76060	-0.99;-0.99	4.05	-2.48	0.06423	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	2.657640	0.01745	N	0.029615	T	0.40694	0.1127	N	0.02142	-0.665	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.14023	0.002;0.01	T	0.51332	-0.8719	10	0.02654	T	1	.	2.1798	0.03871	0.2024:0.4291:0.2215:0.147	.	247;285	Q15485-2;Q15485	.;FCN2_HUMAN	S	247;285	ENSP00000291741:G247S;ENSP00000291744:G285S	ENSP00000291744:G285S	G	+	1	0	FCN2	136918993	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.217000	0.17603	-0.524000	0.06400	0.563000	0.77884	GGC	-	FCN2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.507	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	0	0	0	67	67	91	0.00	0.00	G	NM_004108		137779172	+1	32	52	17	14	tier1	no_errors	ENST00000291744	ensembl	human	known	74_37	missense	65.31	78.79	SNP	0.000	A	32	17
CNKSR3	154043	genome.wustl.edu	37	6	154751693	154751693	+	Silent	SNP	T	T	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:154751693T>G	ENST00000607772.1	-	6	1126	c.582A>C	c.(580-582)acA>acC	p.T194T	CNKSR3_ENST00000479339.1_Silent_p.T114T|CNKSR3_ENST00000433165.2_Silent_p.T19T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	194					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TAGATCGGATTGTTTTGTCAC	0.398													ENSG00000153721																																					0													127.0	116.0	120.0					6																	154751693		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.582A>C	6.37:g.154751693T>G			Q5SGD5|Q96N65	Silent	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.T194	ENST00000607772.1	37	c.582	CCDS5246.1	6																																																																																			-	CNKSR3	-	superfamily_PDZ		0.398	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	HGNC	protein_coding	OTTHUMT00000042792.2	0	0	0	103	103	117	0.00	0.00	T	NM_173515		154751693	-1	39	30	78	71	tier1	no_errors	ENST00000607772	ensembl	human	known	74_37	silent	33.33	29.70	SNP	0.924	G	39	78
SLTM	79811	genome.wustl.edu	37	15	59182582	59182582	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:59182582G>A	ENST00000380516.2	-	15	2064	c.1977C>T	c.(1975-1977)cgC>cgT	p.R659R	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.R228R	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	659	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTCTGTAAGCGTTCCCGTT	0.453													ENSG00000137776																																					0													108.0	108.0	108.0					15																	59182582		2192	4292	6484	SO:0001819	synonymous_variant	0			-	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1977C>T	15.37:g.59182582G>A			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R659	ENST00000380516.2	37	c.1977	CCDS10168.2	15																																																																																			-	SLTM	-	NULL		0.453	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	0	0	0	30	30	47	0.00	0.00	G	NM_024755		59182582	-1	15	24	9	11	tier1	no_errors	ENST00000380516	ensembl	human	known	74_37	silent	62.50	68.57	SNP	1.000	A	15	9
HHATL	57467	genome.wustl.edu	37	3	42734239	42734239	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:42734239C>T	ENST00000441594.1	-	0	1780				HHATL_ENST00000310417.5_3'UTR	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like						negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CTACCCGCTCCCTCCTACTCC	0.552													ENSG00000244607																																					0													96.0	77.0	83.0					3																	42734239		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.*4G>A	3.37:g.42734239C>T			Q8TBG3|Q9ULP7	R	SNP	-	NULL	ENST00000441594.1	37	NULL	CCDS2704.1	3																																																																																			-	CCDC13	-	-		0.552	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000343627.1	0	0	0	49	49	120	0.00	0.00	C	NM_020707		42734239	-1	22	30	30	45	tier1	no_errors	ENST00000479631	ensembl	human	known	74_37	rna	42.31	40.00	SNP	0.000	T	22	30
MRRF	92399	genome.wustl.edu	37	9	125048163	125048163	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:125048163C>T	ENST00000344641.3	+	4	770				MRRF_ENST00000394315.3_Intron|MRRF_ENST00000373723.5_Intron|MRRF_ENST00000297908.3_Intron|MRRF_ENST00000373730.3_Intron|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000373729.1_Intron	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor						ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CCAGGAAGTCCTTTTATACTA	0.423													ENSG00000148187																																					0																																										SO:0001627	intron_variant	0			-	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.459+597C>T	9.37:g.125048163C>T			A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	R	SNP	-	NULL	ENST00000344641.3	37	NULL	CCDS6840.1	9																																																																																			-	MRRF	-	-		0.423	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRRF	HGNC	protein_coding	OTTHUMT00000053914.1	0	0	0	101	101	103	0.00	0.00	C	NM_138777		125048163	+1	46	45	27	20	tier1	no_errors	ENST00000373724	ensembl	human	known	74_37	rna	63.01	67.16	SNP	0.000	T	46	27
ARMC9	80210	genome.wustl.edu	37	2	232234754	232234754	+	3'UTR	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:232234754T>C	ENST00000483477.1	+	0	2351							Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9							extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGGCGTCAGTTCTGGCCCCTC	0.647													ENSG00000135931																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000483477.1:c.*2348T>C	2.37:g.232234754T>C			Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	R	SNP	-	NULL	ENST00000483477.1	37	NULL		2																																																																																			-	ARMC9	-	-		0.647	ARMC9-003	KNOWN	basic	processed_transcript	ARMC9	HGNC	protein_coding	OTTHUMT00000332953.2	0	0	0	100	100	62	0.00	0.00	T	NM_025139		232234754	+1	27	24	37	27	tier1	no_errors	ENST00000483477	ensembl	human	known	74_37	rna	42.19	47.06	SNP	0.002	C	27	37
MCM10	55388	genome.wustl.edu	37	10	13230981	13230981	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:13230981C>T	ENST00000484800.2	+	10	1422	c.1319C>T	c.(1318-1320)cCa>cTa	p.P440L	MCM10_ENST00000378714.3_Missense_Mutation_p.P439L|MCM10_ENST00000378694.1_Missense_Mutation_p.P439L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	440					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGACGAATTCCAAAGAAGTTT	0.532													ENSG00000065328																																					0													124.0	121.0	122.0					10																	13230981		2203	4300	6503	SO:0001583	missense	0			-	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1319C>T	10.37:g.13230981C>T	ENSP00000418268:p.Pro440Leu		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.P440L	ENST00000484800.2	37	c.1319	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.066114	0.93898	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.18338	2.23;2.23;2.22	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.992;0.982	T	0.00666	-1.1619	10	0.30854	T	0.27	-19.1085	20.0359	0.97557	0.0:1.0:0.0:0.0	.	439;439;440	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	L	439;440;440;439	ENSP00000367986:P439L;ENSP00000418268:P440L;ENSP00000367966:P439L	ENSP00000354945:P440L	P	+	2	0	MCM10	13270987	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.415000	0.80131	2.805000	0.96524	0.655000	0.94253	CCA	-	MCM10	-	NULL		0.532	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	0	0	0	39	39	76	0.00	0.00	C	NM_182751		13230981	+1	22	29	26	50	tier1	no_errors	ENST00000484800	ensembl	human	known	74_37	missense	45.83	36.71	SNP	1.000	T	22	26
DNAH3	55567	genome.wustl.edu	37	16	21151772	21151772	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:21151772C>T	ENST00000261383.3	-	5	696				DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ccaggtgattctgctgttctc	0.498													ENSG00000158486																																					0																																										SO:0001627	intron_variant	0			-	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.696+84G>A	16.37:g.21151772C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	R	SNP	-	NULL	ENST00000261383.3	37	NULL	CCDS10594.1	16																																																																																			-	DH3	-	-		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH3	HGNC	protein_coding	OTTHUMT00000207361.1	0	0	0	54	54	105	0.00	0.00	C	NM_017539		21151772	-1	27	46	40	72	tier1	no_errors	ENST00000575491	ensembl	human	known	74_37	rna	40.30	38.66	SNP	0.267	T	27	40
GRM2	2912	genome.wustl.edu	37	3	51749376	51749376	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:51749376G>A	ENST00000395052.3	+	4	1821	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	529					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCCCTATGAGTACCGATTGG	0.607													ENSG00000164082																																					0													39.0	35.0	36.0					3																	51749376		2203	4296	6499	SO:0001819	synonymous_variant	0			-	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1587G>A	3.37:g.51749376G>A			B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.E529	ENST00000395052.3	37	c.1587	CCDS2834.1	3																																																																																			-	GRM2	-	pfam_GPCR_3_9-Cys_dom		0.607	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	0	0	0	38	38	57	0.00	0.00	G			51749376	+1	8	24	25	46	tier1	no_errors	ENST00000395052	ensembl	human	known	74_37	silent	24.24	34.29	SNP	1.000	A	8	25
ATF7	11016	genome.wustl.edu	37	12	53910391	53910391	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:53910391G>A	ENST00000328463.7	-	0	2035				RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000456903.4_3'UTR|ATF7_ENST00000548446.2_Intron|ATF7_ENST00000420353.2_3'UTR|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000546661.1_5'Flank|ATF7_ENST00000415113.1_3'UTR			P17544	ATF7_HUMAN	activating transcription factor 7						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	AGAGGAAAAAGGAAACGGGTA	0.433													ENSG00000257550																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000328463.7:c.*530C>T	12.37:g.53910391G>A			A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	R	SNP	-	NULL	ENST00000328463.7	37	NULL		12																																																																																			-	RP11-793H13.3	-	-		0.433	ATF7-201	KNOWN	basic|appris_candidate_longest	protein_coding	LOC100652999	Clone_based_vega_gene	protein_coding		0	0	0	111	111	121	0.00	0.00	G	NM_001130059		53910391	+1	26	22	44	67	tier1	no_errors	ENST00000548347	ensembl	human	known	74_37	rna	37.14	24.72	SNP	0.016	A	26	44
CCDC158	339965	genome.wustl.edu	37	4	77290759	77290759	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:77290759C>T	ENST00000388914.3	-	10	1319	c.1167G>A	c.(1165-1167)agG>agA	p.R389R		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	389										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCTTCTCCCTTTTGTGTA	0.433													ENSG00000163749																																					0													80.0	80.0	80.0					4																	77290759		1964	4138	6102	SO:0001819	synonymous_variant	0			-	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1167G>A	4.37:g.77290759C>T			Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	superfamily_Prefoldin	p.R389	ENST00000388914.3	37	c.1167	CCDS43242.1	4																																																																																			-	CCDC158	-	NULL		0.433	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	0	0	0	51	51	106	0.00	0.00	C	NM_001042784		77290759	-1	23	41	21	19	tier1	no_errors	ENST00000388914	ensembl	human	known	74_37	silent	52.27	68.33	SNP	0.991	T	23	21
TRANK1	9881	genome.wustl.edu	37	3	36893680	36893680	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:36893680C>T	ENST00000429976.2	-	13	4821	c.4574G>A	c.(4573-4575)gGg>gAg	p.G1525E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G975E|TRANK1_ENST00000301807.6_Missense_Mutation_p.G975E|TRANK1_ENST00000463984.1_5'Flank	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1525							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTTTTATTCCCTCGTAGCAA	0.423													ENSG00000168016																																					0													73.0	67.0	69.0					3																	36893680		1860	4104	5964	SO:0001583	missense	0			-	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4574G>A	3.37:g.36893680C>T	ENSP00000416168:p.Gly1525Glu		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.G1525E	ENST00000429976.2	37	c.4574	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318990	0.81469	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81908	-1.55;-1.55;-1.55	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000012	D	0.89508	0.6735	L	0.52126	1.63	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.89711	0.3912	10	0.72032	D	0.01	.	19.7666	0.96346	0.0:1.0:0.0:0.0	.	1525	O15050	TRNK1_HUMAN	E	975;1525;975	ENSP00000416826:G975E;ENSP00000416168:G1525E;ENSP00000301807:G975E	ENSP00000301807:G975E	G	-	2	0	TRANK1	36868684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.568000	0.67385	2.764000	0.94973	0.650000	0.86243	GGG	-	TRANK1	-	superfamily_P-loop_NTPase		0.423	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		0	0	0	127	127	161	0.00	0.00	C	NM_014831		36893680	-1	45	56	66	101	tier1	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	40.54	35.44	SNP	1.000	T	45	66
OR10A3	26496	genome.wustl.edu	37	11	7960409	7960409	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:7960409C>T	ENST00000360759.3	-	1	732	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	220					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAACAGAACTCGAATGTAAGA	0.448													ENSG00000170683																																					0													112.0	100.0	104.0					11																	7960409		2201	4296	6497	SO:0001583	missense	0			-	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.659G>A	11.37:g.7960409C>T	ENSP00000353988:p.Arg220Gln		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R220Q	ENST00000360759.3	37	c.659	CCDS31421.1	11	.	.	.	.	.	.	.	.	.	.	C	6.221	0.408988	0.11812	.	.	ENSG00000170683	ENST00000360759	T	0.00031	8.89	4.95	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.540328	0.13970	N	0.350206	T	0.00109	0.0003	L	0.41356	1.27	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.20405	-1.0276	10	0.31617	T	0.26	.	4.2014	0.10467	0.1837:0.6294:0.0:0.1869	.	220	P58181	O10A3_HUMAN	Q	220	ENSP00000353988:R220Q	ENSP00000353988:R220Q	R	-	2	0	OR10A3	7916985	0.000000	0.05858	0.884000	0.34674	0.004000	0.04260	-1.405000	0.02492	1.458000	0.47871	-0.157000	0.13467	CGA	-	OR10A3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	HGNC	protein_coding	OTTHUMT00000385704.1	0	0	0	89	89	29	0.00	0.00	C	NM_001003745		7960409	-1	27	14	44	11	tier1	no_errors	ENST00000360759	ensembl	human	known	74_37	missense	38.03	56.00	SNP	0.000	T	27	44
PCNX	22990	genome.wustl.edu	37	14	71518660	71518660	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:71518660C>T	ENST00000304743.2	+	24	4954	c.4508C>T	c.(4507-4509)cCc>cTc	p.P1503L	PCNX_ENST00000238570.5_Missense_Mutation_p.P1503L|PCNX_ENST00000439984.3_Missense_Mutation_p.P1392L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1503						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCACTGAACCCCTTTCTGGGA	0.413													ENSG00000100731																																					0													174.0	168.0	170.0					14																	71518660		2203	4300	6503	SO:0001583	missense	0			-	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4508C>T	14.37:g.71518660C>T	ENSP00000304192:p.Pro1503Leu		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.P1503L	ENST00000304743.2	37	c.4508	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.182749|4.182749	0.78677|0.78677	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|T	0.60920|0.66995	1.84;0.15;1.64|-0.24	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.85999|0.85999	0.5828|0.5828	M|M	0.90483|0.90483	3.12|3.12	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.997|.	D|D	0.87429|0.87429	0.2387|0.2387	10|7	0.56958|.	D|.	0.05|.	.|.	20.1346|20.1346	0.98019|0.98019	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1503;1392;1503|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	L|S	1503;1503;1392|562	ENSP00000304192:P1503L;ENSP00000238570:P1503L;ENSP00000396617:P1392L|ENSP00000451016:P562S	ENSP00000238570:P1503L|.	P|P	+|+	2|1	0|0	PCNX|PCNX	70588413|70588413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.442000|7.442000	0.80503|0.80503	2.763000|2.763000	0.94921|0.94921	0.557000|0.557000	0.71058|0.71058	CCC|CCT	-	PCNX	-	NULL		0.413	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	0	0	0	43	43	62	0.00	0.00	C	NM_014982		71518660	+1	11	13	36	54	tier1	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	23.40	19.40	SNP	1.000	T	11	36
CPSF6	11052	genome.wustl.edu	37	12	69652823	69652823	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:69652823C>T	ENST00000435070.2	+	6	1258	c.1148C>T	c.(1147-1149)cCa>cTa	p.P383L	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.P310L|CPSF6_ENST00000266679.8_Missense_Mutation_p.P420L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	383	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAACAGATCCATATGGGCGA	0.512													ENSG00000111605																																					0													83.0	84.0	84.0					12																	69652823		2203	4300	6503	SO:0001583	missense	0			-	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1148C>T	12.37:g.69652823C>T	ENSP00000391774:p.Pro383Leu		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P420L	ENST00000435070.2	37	c.1259	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060598	0.36373	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.99	4.99	0.66335	.	0.092927	0.85682	D	0.000000	T	0.64427	0.2597	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.78314	0.958;0.991;0.981	T	0.61768	-0.6995	8	.	.	.	-2.1857	18.8343	0.92155	0.0:1.0:0.0:0.0	.	131;420;383	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	L	383;310;420	.	.	P	+	2	0	CPSF6	67939090	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.768000	0.62293	2.761000	0.94854	0.563000	0.77884	CCA	-	CPSF6	-	NULL		0.512	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	0	0	0	15	15	118	0.00	0.00	C	NM_007007		69652823	+1	8	22	6	68	tier1	no_errors	ENST00000266679	ensembl	human	known	74_37	missense	57.14	24.44	SNP	1.000	T	8	6
VWDE	221806	genome.wustl.edu	37	7	12410124	12410124	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:12410124C>T	ENST00000275358.3	-	12	1996	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	603	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CATGCTTTTTCCTGGTAAAAT	0.403													ENSG00000146530																																					0													7.0	6.0	6.0					7																	12410124		689	1552	2241	SO:0001583	missense	0			-		CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.1808G>A	7.37:g.12410124C>T	ENSP00000275358:p.Gly603Glu		B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G603E	ENST00000275358.3	37	c.1808	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733368	0.69189	.	.	ENSG00000146530	ENST00000275358;ENST00000536307	D	0.83163	-1.69	4.78	4.78	0.61160	von Willebrand factor, type D domain (1);	.	.	.	.	D	0.89670	0.6782	L	0.60455	1.87	0.43798	D	0.99634	D	0.89917	1.0	D	0.91635	0.999	D	0.90741	0.4650	9	0.87932	D	0	.	17.9963	0.89185	0.0:1.0:0.0:0.0	.	603	Q8N2E2	VWDE_HUMAN	E	603;57	ENSP00000275358:G603E	ENSP00000275358:G603E	G	-	2	0	VWDE	12376649	1.000000	0.71417	0.992000	0.48379	0.746000	0.42486	6.257000	0.72480	2.495000	0.84180	0.555000	0.69702	GGA	-	VWDE	-	NULL		0.403	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	0	0	0	31	31	72	0.00	0.00	C	XM_371878		12410124	-1	13	38	17	38	tier1	no_errors	ENST00000452576	ensembl	human	known	74_37	missense	41.94	50.00	SNP	1.000	T	13	17
CLDN4	1364	genome.wustl.edu	37	7	73245979	73245979	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:73245979C>T	ENST00000435050.1	+	2	3128	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	CLDN4_ENST00000431918.1_Missense_Mutation_p.P150S|CLDN4_ENST00000340958.2_Missense_Mutation_p.P150S			O14493	CLD4_HUMAN	claudin 4	150					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.P150S(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CTTCTACAATCCGCTGGTGGC	0.652													ENSG00000189143																																					1	Substitution - Missense(1)	lung(1)											71.0	69.0	70.0					7																	73245979		2203	4300	6503	SO:0001583	missense	0			-	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.448C>T	7.37:g.73245979C>T	ENSP00000409544:p.Pro150Ser			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4	p.P150S	ENST00000435050.1	37	c.448	CCDS5560.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.218401	0.95104	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.88354	-2.37;-2.37;-2.37	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	M	0.89840	3.065	0.58432	D	0.999999	P	0.46987	0.888	P	0.48952	0.596	D	0.94400	0.7622	10	0.66056	D	0.02	.	16.3125	0.82898	0.0:1.0:0.0:0.0	.	150	O14493	CLD4_HUMAN	S	150;150;150;137	ENSP00000409544:P150S;ENSP00000388639:P150S;ENSP00000342445:P150S	ENSP00000342445:P150S	P	+	1	0	CLDN4	72883915	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.920000	0.70017	2.448000	0.82819	0.655000	0.94253	CCG	-	CLDN4	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin4		0.652	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDN4	HGNC	protein_coding	OTTHUMT00000348030.1	0	0	0	46	46	52	0.00	0.00	C	NM_001305		73245979	+1	11	14	25	31	tier1	no_errors	ENST00000340958	ensembl	human	known	74_37	missense	30.56	31.11	SNP	1.000	T	11	25
TTN	7273	genome.wustl.edu	37	2	179426428	179426428	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179426428G>A	ENST00000591111.1	-	276	79732	c.79508C>T	c.(79507-79509)tCa>tTa	p.S26503L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S19271L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S28144L|TTN_ENST00000342992.6_Missense_Mutation_p.S25576L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19204L|TTN_ENST00000460472.2_Missense_Mutation_p.S19079L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26503	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)			AACAACAGCTGAAGATTCACT	0.458													ENSG00000155657																																					0													92.0	93.0	93.0					2																	179426428		1894	4117	6011	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.79508C>T	2.37:g.179426428G>A	ENSP00000465570:p.Ser26503Leu		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.S25576L	ENST00000591111.1	37	c.76727		2	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481638	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.01	6.01	0.97437	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	M	0.64567	1.98	0.35037	D	0.759318	B;B;B;B	0.12630	0.006;0.006;0.006;0.006	B;B;B;B	0.14023	0.005;0.005;0.01;0.01	T	0.57365	-0.7824	9	0.87932	D	0	.	20.5073	0.99209	0.0:0.0:1.0:0.0	.	19079;19204;19271;26503	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	25576;19079;19271;19204;19077	ENSP00000343764:S25576L;ENSP00000434586:S19079L;ENSP00000340554:S19271L;ENSP00000352154:S19204L	ENSP00000340554:S19271L	S	-	2	0	TTN	179134674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.700000	0.68318	2.855000	0.98099	0.585000	0.79938	TCA	-	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	57	57	138	0.00	0.00	G	NM_133378		179426428	-1	12	18	44	80	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	21.43	18.37	SNP	0.993	A	12	44
ZAR1L	646799	genome.wustl.edu	37	13	32886059	32886059	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:32886059C>T	ENST00000533490.2	-	3	422	c.4G>A	c.(4-6)Gag>Aag	p.E2K	ZAR1L_ENST00000345108.6_Missense_Mutation_p.E2K			A6NP61	ZAR1L_HUMAN	zygote arrest 1-like	2						cytoplasm (GO:0005737)				NS(1)|kidney(1)	2						ACAAAGCGCTCCATCCGCTCT	0.547													ENSG00000189167																																					0													36.0	39.0	38.0					13																	32886059		692	1591	2283	SO:0001583	missense	0			-		CCDS45023.1	13q13.1	2014-02-20			ENSG00000189167	ENSG00000189167			37116	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 7"""					18442940	Standard	NM_001136571		Approved	Z3CXXC7	uc010abc.1	A6NP61	OTTHUMG00000016694	ENST00000533490.2:c.4G>A	13.37:g.32886059C>T	ENSP00000437289:p.Glu2Lys		B2RV03|B7ZBU2	Missense_Mutation	SNP	NULL	p.E2K	ENST00000533490.2	37	c.4	CCDS45023.1	13	.	.	.	.	.	.	.	.	.	.	c	25.3	4.626745	0.87560	.	.	ENSG00000189167	ENST00000345108;ENST00000533490	.	.	.	4.75	3.91	0.45181	.	0.000000	0.27064	U	0.021116	T	0.52996	0.1769	L	0.53249	1.67	0.37292	D	0.908323	B	0.29508	0.246	B	0.29942	0.109	T	0.61133	-0.7124	9	0.59425	D	0.04	-21.5168	12.8692	0.57955	0.0:0.9214:0.0:0.0786	.	2	A6NP61	ZAR1L_HUMAN	K	2	.	ENSP00000344616:E2K	E	-	1	0	ZAR1L	31784059	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	5.325000	0.65869	1.252000	0.44001	0.639000	0.83563	GAG	-	ZAR1L	-	NULL		0.547	ZAR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1L	HGNC	protein_coding	OTTHUMT00000044403.5	0	0	0	53	53	119	0.00	0.00	C			32886059	-1	10	22	42	46	tier1	no_errors	ENST00000345108	ensembl	human	known	74_37	missense	19.23	32.35	SNP	1.000	T	10	42
DSCAML1	57453	genome.wustl.edu	37	11	117335657	117335657	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:117335657C>T	ENST00000321322.6	-	17	3447		c.e17+1		DSCAML1_ENST00000527706.1_Splice_Site	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGGCCCTCACCATCCTCCAG	0.632													ENSG00000177103																																					0													52.0	48.0	49.0					11																	117335657		2201	4296	6497	SO:0001630	splice_region_variant	0			-		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3445+1G>A	11.37:g.117335657C>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Splice_Site	SNP	-	e17+1	ENST00000321322.6	37	c.3445+1	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546877	0.86022	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8525	0.88751	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCAML1	116840867	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	7.651000	0.83577	2.443000	0.82685	0.561000	0.74099	.	-	DSCAML1	-	-		0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	0	0	0	37	37	56	0.00	0.00	C	NM_020693	Intron	117335657	-1	23	21	14	13	tier1	no_errors	ENST00000321322	ensembl	human	known	74_37	splice_site	62.16	61.76	SNP	1.000	T	23	14
PDE1C	5137	genome.wustl.edu	37	7	31887593	31887593	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:31887593C>T	ENST00000396191.1	-	9	1424	c.969G>A	c.(967-969)aaG>aaA	p.K323K	PDE1C_ENST00000396184.3_Silent_p.K323K|PDE1C_ENST00000396182.2_Silent_p.K323K|PDE1C_ENST00000396193.1_Silent_p.K383K|PDE1C_ENST00000321453.7_Silent_p.K323K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	323	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCCAGTCATCCTTTGAGAGGT	0.393													ENSG00000154678																																					0													107.0	98.0	101.0					7																	31887593		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.969G>A	7.37:g.31887593C>T			B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.K323	ENST00000396191.1	37	c.969	CCDS55099.1	7																																																																																			-	PDE1C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.393	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	0	0	0	97	97	129	0.00	0.00	C			31887593	-1	12	35	67	101	tier1	no_errors	ENST00000321453	ensembl	human	known	74_37	silent	15.19	25.74	SNP	0.999	T	12	67
SLC38A8	146167	genome.wustl.edu	37	16	84070431	84070431	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:84070431G>A	ENST00000299709.3	-	2	263	c.264C>T	c.(262-264)taC>taT	p.Y88Y		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	88					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCACACCCTGGTAGGTGGCCT	0.622													ENSG00000166558																																					0													71.0	54.0	60.0					16																	84070431		2200	4300	6500	SO:0001819	synonymous_variant	0			-		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.264C>T	16.37:g.84070431G>A				Silent	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.Y88	ENST00000299709.3	37	c.264	CCDS32495.1	16																																																																																			-	SLC38A8	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease		0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	0	0	0	86	86	52	0.00	0.00	G	NM_001080442		84070431	-1	40	11	70	22	tier1	no_errors	ENST00000299709	ensembl	human	known	74_37	silent	36.36	33.33	SNP	1.000	A	40	70
FLJ36000	284124	genome.wustl.edu	37	17	21911729	21911729	+	lincRNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:21911729G>A	ENST00000581223.2	+	0	2454					NR_027084.1																						GCCACACAACGATAGAATCTT	0.483													ENSG00000266795																																					0																																												0			-																													17.37:g.21911729G>A				R	SNP	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			-	RP11-744K17.9	-	-		0.483	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1	0	0	0	27	27	83	0.00	0.00	G			21911729	+1	25	28	11	26	tier1	no_errors	ENST00000581223	ensembl	human	known	74_37	rna	69.44	51.85	SNP	0.002	A	25	11
ATP6V1G2	534	genome.wustl.edu	37	6	31513151	31513151	+	3'UTR	SNP	G	G	A	rs146909286	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31513151G>A	ENST00000303892.5	-	0	675				ATP6V1G2_ENST00000483170.1_5'UTR|DDX39B_ENST00000458640.1_5'Flank|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000417556.2_5'Flank|NFKBIL1_ENST00000376145.4_5'Flank|NFKBIL1_ENST00000376148.4_5'Flank|ATP6V1G2_ENST00000376151.4_3'UTR|DDX39B_ENST00000396172.1_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B-AS1_ENST00000420520.1_RNA|ATP6V1G2-DDX39B_ENST00000475917.1_Intron|ATP6V1G2_ENST00000483251.1_3'UTR	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						TTGAGGGAGGGAACTGGCAGA	0.537													ENSG00000213760																																					0													29.0	27.0	28.0					6																	31513151		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			-	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.*34C>T	6.37:g.31513151G>A			B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	R	SNP	-	NULL	ENST00000303892.5	37	NULL	CCDS4698.1	6																																																																																			-	ATP6V1G2	-	-		0.537	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G2	HGNC	protein_coding	OTTHUMT00000076399.3	0	0	0	61	61	75	0.00	0.00	G	NM_130463		31513151	-1	26	21	35	35	tier1	no_errors	ENST00000483170	ensembl	human	known	74_37	rna	42.62	37.50	SNP	0.000	A	26	35
COL8A1	1295	genome.wustl.edu	37	3	99514510	99514510	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:99514510G>A	ENST00000261037.3	+	5	2145	c.1765G>A	c.(1765-1767)Ggg>Agg	p.G589R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G589R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	589	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCCAGATATGGGGCTGGGAAT	0.622													ENSG00000144810																																					0													49.0	49.0	49.0					3																	99514510		2203	4300	6503	SO:0001583	missense	0			-	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1765G>A	3.37:g.99514510G>A	ENSP00000261037:p.Gly589Arg		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G589R	ENST00000261037.3	37	c.1765	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148877	0.57151	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.91011	-2.77;-2.77	5.58	5.58	0.84498	.	0.049811	0.85682	D	0.000000	D	0.82761	0.5107	N	0.08118	0	0.80722	D	1	P;P	0.50443	0.935;0.935	P;P	0.45449	0.481;0.481	T	0.81701	-0.0813	10	0.14252	T	0.57	.	17.05	0.86516	0.0:0.0:1.0:0.0	.	590;589	E7EPK9;P27658	.;CO8A1_HUMAN	R	589	ENSP00000261037:G589R;ENSP00000273342:G589R	ENSP00000261037:G589R	G	+	1	0	COL8A1	100997200	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.780000	0.68956	2.630000	0.89119	0.563000	0.77884	GGG	-	COL8A1	-	NULL		0.622	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	0	0	0	60	60	108	0.00	0.00	G	NM_001850		99514510	+1	14	49	35	66	tier1	no_errors	ENST00000261037	ensembl	human	known	74_37	missense	28.57	42.61	SNP	1.000	A	14	35
SNX7	51375	genome.wustl.edu	37	1	99157133	99157133	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:99157133T>C	ENST00000306121.3	+	4	526	c.517T>C	c.(517-519)Ttt>Ctt	p.F173L	SNX7_ENST00000529992.1_Intron|SNX7_ENST00000370189.5_Missense_Mutation_p.F109L	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	109					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GGTGGAACGCTTTAACGATGA	0.323													ENSG00000162627																																					0													64.0	63.0	64.0					1																	99157133		2203	4300	6503	SO:0001583	missense	0			-	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.517T>C	1.37:g.99157133T>C	ENSP00000304429:p.Phe173Leu		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F173L	ENST00000306121.3	37	c.517	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	T	35	5.419204	0.96092	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.35789	1.29;1.29	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.67953	2.075	0.80722	D	1	D;D	0.59767	0.981;0.986	P;P	0.56960	0.797;0.81	T	0.48768	-0.9006	10	0.66056	D	0.02	-28.2389	15.796	0.78409	0.0:0.0:0.0:1.0	.	173;109	Q9UNH6-3;Q9UNH6-2	.;.	L	109;173	ENSP00000359208:F109L;ENSP00000304429:F173L	ENSP00000304429:F173L	F	+	1	0	SNX7	98929721	1.000000	0.71417	0.944000	0.38274	0.857000	0.48899	8.039000	0.88947	2.144000	0.66660	0.528000	0.53228	TTT	-	SNX7	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.323	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	HGNC	protein_coding	OTTHUMT00000029609.2	0	0	0	177	177	117	0.00	0.00	T			99157133	+1	108	54	101	56	tier1	no_errors	ENST00000306121	ensembl	human	known	74_37	missense	51.67	49.09	SNP	1.000	C	108	101
ZDHHC16	84287	genome.wustl.edu	37	10	99216801	99216801	+	3'UTR	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99216801T>A	ENST00000370854.3	+	0	1476				ZDHHC16_ENST00000352634.4_3'UTR|ZDHHC16_ENST00000370846.4_3'UTR|ZDHHC16_ENST00000393760.1_3'UTR|ZDHHC16_ENST00000353979.3_3'UTR|ZDHHC16_ENST00000370842.2_3'UTR|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_3'UTR	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16						apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GACCAGCCTTTTTACCACTGC	0.493													ENSG00000171307																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"""Zinc fingers, DHHC-type"""	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.*153T>A	10.37:g.99216801T>A			D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	R	SNP	-	NULL	ENST00000370854.3	37	NULL	CCDS7460.1	10																																																																																			-	ZDHHC16	-	-		0.493	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2	0	0	0	83	83	126	0.00	0.00	T	NM_032327		99216801	+1	40	50	22	26	tier1	no_errors	ENST00000487315	ensembl	human	known	74_37	rna	64.52	65.79	SNP	0.003	A	40	22
CHD6	84181	genome.wustl.edu	37	20	40033678	40033678	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:40033678G>A	ENST00000373233.3	-	37	7880	c.7703C>T	c.(7702-7704)aCt>aTt	p.T2568I	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2568					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCTTCCGCAGTCTTTTCAGT	0.522													ENSG00000124177																																					0													142.0	140.0	140.0					20																	40033678		2203	4300	6503	SO:0001583	missense	0			-	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7703C>T	20.37:g.40033678G>A	ENSP00000362330:p.Thr2568Ile		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T2568I	ENST00000373233.3	37	c.7703	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	7.685	0.689853	0.14973	.	.	ENSG00000124177	ENST00000373233	D	0.86769	-2.17	5.65	4.69	0.59074	.	0.224217	0.31784	N	0.007066	D	0.83147	0.5191	L	0.43923	1.385	0.80722	D	1	B	0.20671	0.047	B	0.16722	0.016	T	0.80894	-0.1178	10	0.66056	D	0.02	-5.2055	14.4895	0.67642	0.0:0.0:0.7327:0.2673	.	2568	Q8TD26	CHD6_HUMAN	I	2568	ENSP00000362330:T2568I	ENSP00000362330:T2568I	T	-	2	0	CHD6	39467092	1.000000	0.71417	0.917000	0.36280	0.089000	0.18198	5.376000	0.66178	1.607000	0.50170	-0.181000	0.13052	ACT	-	CHD6	-	NULL		0.522	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	0	0	0	77	77	124	0.00	0.00	G			40033678	-1	37	56	74	81	tier1	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	33.33	40.58	SNP	0.970	A	37	74
PDCD2L	84306	genome.wustl.edu	37	19	34900200	34900200	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:34900200C>T	ENST00000246535.3	+	4	518	c.471C>T	c.(469-471)gaC>gaT	p.D157D	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	157					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AAGACGTAGACTGGACTGCTC	0.577													ENSG00000126249																																					0													132.0	117.0	122.0					19																	34900200		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.471C>T	19.37:g.34900200C>T				Silent	SNP	pfam_PDCD2_C	p.D157	ENST00000246535.3	37	c.471	CCDS12438.1	19																																																																																			-	PDCD2L	-	NULL		0.577	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3	0	0	0	61	61	85	0.00	0.00	C	NM_032346		34900200	+1	20	26	44	56	tier1	no_errors	ENST00000246535	ensembl	human	known	74_37	silent	31.25	31.71	SNP	0.999	T	20	44
A1CF	29974	genome.wustl.edu	37	10	52588055	52588055	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:52588055C>T	ENST00000373993.1	-	5	649	c.605G>A	c.(604-606)gGa>gAa	p.G202E	A1CF_ENST00000282641.2_Splice_Site_p.G202E|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373995.3_Splice_Site_p.G210E|A1CF_ENST00000373997.3_Splice_Site_p.G202E|A1CF_ENST00000374001.2_Splice_Site_p.G202E|A1CF_ENST00000395489.2_Splice_Site_p.G195E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	202	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTGAATTCTTCCTGTTGAAAA	0.368													ENSG00000148584																																					0													104.0	103.0	103.0					10																	52588055		2203	4299	6502	SO:0001630	splice_region_variant	0			-	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.605-1G>A	10.37:g.52588055C>T			A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G202E	ENST00000373993.1	37	c.605	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701555	0.88924	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.14893	2.49;2.47;2.49;3.39;2.47;3.39	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.86178	2.8	0.80722	D	1	P;P;D;D	0.89917	0.682;0.729;1.0;0.976	P;P;D;D	0.83275	0.6;0.722;0.996;0.936	T	0.53514	-0.8428	10	0.72032	D	0.01	.	16.5954	0.84795	0.0:1.0:0.0:0.0	.	195;202;202;210	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	E	202;202;202;210;202;185;195	ENSP00000363113:G202E;ENSP00000363105:G202E;ENSP00000363109:G202E;ENSP00000363107:G210E;ENSP00000282641:G202E;ENSP00000378868:G195E	ENSP00000282641:G202E	G	-	2	0	A1CF	52258061	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.449000	0.80643	2.496000	0.84212	0.563000	0.77884	GGA	-	A1CF	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.368	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2	0	0	0	55	55	105	0.00	0.00	C	NM_014576	Missense_Mutation	52588055	-1	25	39	17	20	tier1	no_errors	ENST00000282641	ensembl	human	known	74_37	missense	59.52	66.10	SNP	1.000	T	25	17
TMEM108	66000	genome.wustl.edu	37	3	133099899	133099899	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:133099899C>T	ENST00000321871.6	+	4	1554	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Silent_p.S448S|TMEM108_ENST00000515826.1_Silent_p.S448S	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	448						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGAACATCTCCCATGTGGCCG	0.617													ENSG00000144868																																					0													101.0	89.0	93.0					3																	133099899		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1344C>T	3.37:g.133099899C>T			D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP	NULL	p.S448	ENST00000321871.6	37	c.1344	CCDS33858.1	3																																																																																			-	TMEM108	-	NULL		0.617	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	0	0	0	24	24	45	0.00	0.00	C	NM_023943		133099899	+1	17	19	16	25	tier1	no_errors	ENST00000321871	ensembl	human	known	74_37	silent	51.52	43.18	SNP	0.876	T	17	16
B3GNTL1	146712	genome.wustl.edu	37	17	80914630	80914630	+	Nonsense_Mutation	SNP	G	G	A	rs199962764		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:80914630G>A	ENST00000320865.3	-	11	959	c.946C>T	c.(946-948)Cga>Tga	p.R316*	B3GNTL1_ENST00000576599.1_Nonsense_Mutation_p.R205*	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	316							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ATGGGGATTCGGGGCTTGGGT	0.657													ENSG00000175711	g|||	1	0.000199681	0.0008	0.0	5008	,	,		16482	0.0		0.0	False		,,,				2504	0.0																0									stop/ARG	4,4382		0,4,2189	147.0	136.0	140.0		946	1.5	0.6	17		140	0,8592		0,0,4296	yes	stop-gained	B3GNTL1	NM_001009905.1		0,4,6485	AA,AG,GG		0.0,0.0912,0.0308		316/362	80914630	4,12974	2193	4296	6489	SO:0001587	stop_gained	0			-	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.946C>T	17.37:g.80914630G>A	ENSP00000319979:p.Arg316*		Q6GV30|Q8WUT3	Nonsense_Mutation	SNP	pfam_Glyco_trans_2	p.R316*	ENST00000320865.3	37	c.946	CCDS32778.1	17	.	.	.	.	.	.	.	.	.	.	g	45	12.027659	0.99629	9.12E-4	0.0	ENSG00000175711	ENST00000320865	.	.	.	3.8	1.49	0.22878	.	0.277991	0.33631	N	0.004714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.5726	7.8892	0.29667	0.0:0.0:0.5309:0.4691	.	.	.	.	X	316	.	.	R	-	1	2	B3GNTL1	78507919	0.299000	0.24426	0.590000	0.28732	0.334000	0.28698	1.801000	0.38843	0.869000	0.35703	0.651000	0.88453	CGA	rs199962764	B3GNTL1	-	NULL		0.657	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	HGNC	protein_coding	OTTHUMT00000438949.1	0	0	0	101	101	86	0.00	0.00	G	NM_001009905		80914630	-1	56	60	30	35	tier1	no_errors	ENST00000320865	ensembl	human	known	74_37	nonsense	65.12	62.50	SNP	0.353	A	56	30
STK11	6794	genome.wustl.edu	37	19	1220483	1220483	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:1220483C>T	ENST00000326873.7	+	4	1749	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAAAATCTCCGACCTGG	0.677		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			ENSG00000118046																											yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	27	Whole gene deletion(20)|Deletion - Frameshift(4)|Unknown(3)	cervix(14)|lung(9)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											38.0	44.0	42.0					19																	1220483		2031	4171	6202	SO:0001819	synonymous_variant	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	-	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.576C>T	19.37:g.1220483C>T			B2RBX7|E7EW76	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I192	ENST00000326873.7	37	c.576	CCDS45896.1	19																																																																																			-	STK11	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.677	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	0	0	0	61	61	51	0.00	0.00	C	NM_000455		1220483	+1	58	26	15	10	tier1	no_errors	ENST00000326873	ensembl	human	known	74_37	silent	79.45	72.22	SNP	1.000	T	58	15
DNAH7	56171	genome.wustl.edu	37	2	196753051	196753051	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:196753051C>T	ENST00000312428.6	-	33	5437	c.5337G>A	c.(5335-5337)aaG>aaA	p.K1779K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1779	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.K1779N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATGAATTCCTTTTGAATAA	0.388													ENSG00000118997																																					1	Substitution - Missense(1)	lung(1)											69.0	63.0	65.0					2																	196753051		1841	4103	5944	SO:0001819	synonymous_variant	0			-	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5337G>A	2.37:g.196753051C>T			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.K1779	ENST00000312428.6	37	c.5337	CCDS42794.1	2																																																																																			-	DH7	-	NULL		0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH7	HGNC	protein_coding	OTTHUMT00000335202.3	0	0	0	56	56	122	0.00	0.00	C	NM_018897		196753051	-1	9	14	44	83	tier1	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	16.98	14.43	SNP	1.000	T	9	44
ANKRD32	84250	genome.wustl.edu	37	5	94001632	94001632	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:94001632C>T	ENST00000265140.5	+	12	1854	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	479						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CCTGCATCCTCCTTGGAAGTC	0.348													ENSG00000133302																																					0													212.0	172.0	184.0					5																	94001632		692	1591	2283	SO:0001583	missense	0			-	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1435C>T	5.37:g.94001632C>T	ENSP00000265140:p.Pro479Ser		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P479S	ENST00000265140.5	37	c.1435	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298605	0.60195	.	.	ENSG00000133302	ENST00000265140	T	0.74002	-0.8	5.41	4.55	0.56014	.	0.091308	0.42053	N	0.000770	T	0.69079	0.3071	L	0.50333	1.59	0.36058	D	0.841248	B	0.28880	0.226	B	0.26614	0.071	T	0.74884	-0.3512	10	0.87932	D	0	.	13.909	0.63855	0.0:0.9267:0.0:0.0732	.	479	Q9BQI6	ANR32_HUMAN	S	479	ENSP00000265140:P479S	ENSP00000265140:P479S	P	+	1	0	ANKRD32	94027388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.728000	0.54991	1.273000	0.44346	0.585000	0.79938	CCT	-	ANKRD32	-	NULL		0.348	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	0	0	0	60	60	72	0.00	0.00	C	NM_032290		94001632	+1	12	23	13	25	tier1	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	48.00	47.92	SNP	1.000	T	12	13
MTUS2	23281	genome.wustl.edu	37	13	29600062	29600062	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:29600062G>A	ENST00000431530.3	+	1	1315	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	409						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGATAATCAGCCCACTGGCA	0.507													ENSG00000132938																																					0													32.0	34.0	34.0					13																	29600062		1916	4143	6059	SO:0001819	synonymous_variant	0			-	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1257G>A	13.37:g.29600062G>A			A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.Q419	ENST00000431530.3	37	c.1257	CCDS45022.1	13																																																																																			-	MTUS2	-	NULL		0.507	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	0	0	0	39	39	143	0.00	0.00	G	XM_166270		29600062	+1	13	29	30	59	tier1	no_errors	ENST00000431530	ensembl	human	known	74_37	silent	30.23	32.95	SNP	0.000	A	13	30
NEU3	10825	genome.wustl.edu	37	11	74700062	74700062	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:74700062G>A	ENST00000544263.1	+	2	28		c.e2-1		NEU3_ENST00000531619.1_5'UTR|NEU3_ENST00000534628.1_5'UTR|NEU3_ENST00000294064.4_5'UTR|NEU3_ENST00000529024.1_Splice_Site|NEU3_ENST00000532963.1_5'UTR|NEU3_ENST00000545272.1_5'UTR|NEU3_ENST00000531509.1_Splice_Site|NEU3_ENST00000526068.1_5'UTR			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)						carbohydrate metabolic process (GO:0005975)|ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CTCTGTCTCAGTCTCCCCAGC	0.632													ENSG00000162139																																					0													3.0	4.0	4.0					11																	74700062		1617	3330	4947	SO:0001630	splice_region_variant	0			-	AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.-142-1G>A	11.37:g.74700062G>A			A8K327|Q9NQE1	Splice_Site	SNP	-	e1-1	ENST00000544263.1	37	c.1-1		11																																																																																			-	NEU3	-	-		0.632	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	NEU3	HGNC	protein_coding		0	0	0	110	110	49	0.00	0.00	G	NM_006656	Intron	74700062	+1	41	15	55	35	tier1	no_errors	ENST00000531509	ensembl	human	known	74_37	splice_site	42.71	30.00	SNP	0.000	A	41	55
ASB10	136371	genome.wustl.edu	37	7	150878388	150878388	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150878388C>T	ENST00000420175.2	-	3	766	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	ASB10_ENST00000275838.1_Missense_Mutation_p.G248S|ASB10_ENST00000377867.3_Missense_Mutation_p.G233S|ASB10_ENST00000422024.1_Missense_Mutation_p.G293S|ASB10_ENST00000434669.1_Missense_Mutation_p.G293S			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	248					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGTCCAGCCTTCGGCATTG	0.657													ENSG00000146926																																					0													36.0	36.0	36.0					7																	150878388		2203	4300	6503	SO:0001583	missense	0			-	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.742G>A	7.37:g.150878388C>T	ENSP00000391137:p.Gly248Ser		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.G293S	ENST00000420175.2	37	c.877	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594308	0.66219	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.24	4.35	0.52113	Ankyrin repeat-containing domain (3);	0.052997	0.85682	D	0.000000	T	0.78175	0.4242	M	0.87617	2.895	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.994	T	0.82289	-0.0531	10	0.72032	D	0.01	-12.4543	13.5943	0.61979	0.0:0.9242:0.0:0.0758	.	233;248;293	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	S	248;233;293;293;248	ENSP00000275838:G248S;ENSP00000367098:G233S;ENSP00000401369:G293S;ENSP00000398247:G293S;ENSP00000391137:G248S	ENSP00000275838:G248S	G	-	1	0	ASB10	150509321	1.000000	0.71417	0.845000	0.33349	0.204000	0.24138	5.741000	0.68638	1.332000	0.45431	0.655000	0.94253	GGC	-	ASB10	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.657	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	0	0	0	97	97	24	0.00	0.00	C	NM_080871		150878388	-1	34	10	48	20	tier1	no_errors	ENST00000422024	ensembl	human	known	74_37	missense	41.46	33.33	SNP	0.999	T	34	48
MDGA1	266727	genome.wustl.edu	37	6	37613720	37613720	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:37613720G>A	ENST00000434837.3	-	12	3415	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	MDGA1_ENST00000505425.1_Missense_Mutation_p.P746L|MDGA1_ENST00000297153.7_Intron|MDGA1_ENST00000510077.1_5'Flank	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	746					brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAAAGGTTCGGAGAGTTGAT	0.547													ENSG00000112139																																					0													60.0	64.0	63.0					6																	37613720		1946	4141	6087	SO:0001583	missense	0			-	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2237C>T	6.37:g.37613720G>A	ENSP00000402584:p.Pro746Leu		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.P746L	ENST00000434837.3	37	c.2237	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257879	0.80246	.	.	ENSG00000112139	ENST00000434837;ENST00000505425	T;T	0.56941	0.43;0.44	5.81	5.81	0.92471	Immunoglobulin-like fold (1);	38.174900	0.00721	N	0.000889	T	0.58323	0.2114	L	0.58101	1.795	0.80722	D	1	D;B	0.67145	0.996;0.027	P;B	0.51453	0.67;0.004	T	0.52968	-0.8504	10	0.66056	D	0.02	.	16.8018	0.85616	0.0:0.0:1.0:0.0	.	746;746	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	L	746	ENSP00000402584:P746L;ENSP00000422042:P746L	ENSP00000402584:P746L	P	-	2	0	MDGA1	37721698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.746000	0.94184	0.655000	0.94253	CCG	-	MDGA1	-	NULL		0.547	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	0	0	0	88	88	155	0.00	0.00	G			37613720	-1	19	34	52	83	tier1	no_errors	ENST00000434837	ensembl	human	known	74_37	missense	26.76	29.06	SNP	1.000	A	19	52
AK9	221264	genome.wustl.edu	37	6	109849861	109849861	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:109849861G>A	ENST00000424296.2	-	29	3710				AK9_ENST00000341338.6_Missense_Mutation_p.P322S|AK9_ENST00000355283.1_3'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CCTCTGTACGGAAGTCCAGCA	0.448													ENSG00000155085																																					0																																										SO:0001627	intron_variant	0			-	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+352C>T	6.37:g.109849861G>A			A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	p.P322S	ENST00000424296.2	37	c.964	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195177	0.22037	.	.	ENSG00000155085	ENST00000341338	T	0.70516	-0.49	1.65	-0.561	0.11785	.	.	.	.	.	T	0.31575	0.0801	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24941	-1.0146	5	.	.	.	.	2.9167	0.05755	0.0:0.274:0.3935:0.3325	.	.	.	.	S	322	ENSP00000344637:P322S	.	P	-	1	0	AKD1	109956554	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.817000	0.04472	-0.172000	0.10779	0.511000	0.50034	CCG	-	AK9	-	NULL		0.448	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		0	0	0	45	45	59	0.00	0.00	G	NM_001145128		109849861	-1	21	20	20	39	tier1	no_errors	ENST00000341338	ensembl	human	known	74_37	missense	51.22	33.33	SNP	0.000	A	21	20
DCUN1D4	23142	genome.wustl.edu	37	4	52743988	52743988	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:52743988A>T	ENST00000334635.5	+	5	491	c.311A>T	c.(310-312)aAa>aTa	p.K104I	DCUN1D4_ENST00000381441.3_Missense_Mutation_p.K104I|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.K44I|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.K148I	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	104	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTTTCAAGTAAAAGGTGCTTG	0.318													ENSG00000109184																																					0													115.0	131.0	126.0					4																	52743988		2203	4298	6501	SO:0001583	missense	0			-	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.311A>T	4.37:g.52743988A>T	ENSP00000334625:p.Lys104Ile		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	pfam_PONY_dom	p.K148I	ENST00000334635.5	37	c.443	CCDS33982.1	4	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504065	0.85176	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000505403;ENST00000451288	T;T;T	0.68765	-0.35;-0.35;-0.35	5.77	5.77	0.91146	Domain of unknown function DUF298 (1);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.88181	2.935	0.58432	D	0.999993	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.961;0.996;0.969	D	0.87070	0.2159	10	0.87932	D	0	-16.1588	13.8256	0.63348	1.0:0.0:0.0:0.0	.	148;104;104	B4DH25;Q92564-2;Q92564	.;.;DCNL4_HUMAN	I	104;104;44;148;148	ENSP00000334625:K104I;ENSP00000370846:K44I;ENSP00000389900:K148I	ENSP00000334625:K104I	K	+	2	0	DCUN1D4	52438745	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.353000	0.79414	2.202000	0.70862	0.528000	0.53228	AAA	-	DCUN1D4	-	NULL		0.318	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	DCUN1D4	HGNC	protein_coding	OTTHUMT00000250599.2	0	0	0	204	204	121	0.00	0.00	A	NM_015115		52743988	+1	76	34	140	85	tier1	no_errors	ENST00000451288	ensembl	human	known	74_37	missense	35.19	28.57	SNP	1.000	T	76	140
WDR87	83889	genome.wustl.edu	37	19	38377043	38377043	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:38377043C>T	ENST00000303868.5	-	6	7375	c.7151G>A	c.(7150-7152)gGa>gAa	p.G2384E	WDR87_ENST00000447313.2_Missense_Mutation_p.G2423E	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2384										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TTTTAGAACTCCTAGTCTTAT	0.428													ENSG00000171804																																					0													68.0	54.0	58.0					19																	38377043		692	1591	2283	SO:0001583	missense	0			-	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.7151G>A	19.37:g.38377043C>T	ENSP00000368025:p.Gly2384Glu		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G2423E	ENST00000303868.5	37	c.7268	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	6.576	0.474561	0.12521	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10288	2.89;2.89	3.7	-2.87	0.05700	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43814	-0.9368	9	0.02654	T	1	.	4.98	0.14160	0.1456:0.4864:0.0:0.368	.	2384;2423	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	E	2423;2384	ENSP00000405012:G2423E;ENSP00000368025:G2384E	ENSP00000368025:G2384E	G	-	2	0	WDR87	43068883	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.176000	0.03099	-0.479000	0.06813	-0.188000	0.12872	GGA	-	WDR87	-	superfamily_ARM-type_fold		0.428	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	0	0	0	65	65	153	0.00	0.00	C	XM_940478		38377043	-1	13	33	65	112	tier1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	16.67	22.76	SNP	0.000	T	13	65
AAED1	195827	genome.wustl.edu	37	9	99417118	99417118	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:99417118C>T	ENST00000375234.3	-	2	192				AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1																		CCCGAAGGATCCCTGTACTTC	0.652													ENSG00000158122																																					0													58.0	57.0	57.0					9																	99417118		692	1591	2283	SO:0001627	intron_variant	0			-	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 21"""	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.193-63G>A	9.37:g.99417118C>T			B2RMW4|Q5JU02	R	SNP	-	NULL	ENST00000375234.3	37	NULL	CCDS35073.1	9																																																																																			-	AAED1	-	-		0.652	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AAED1	HGNC	protein_coding	OTTHUMT00000053273.1	0	0	0	47	47	60	0.00	0.00	C	NM_153698		99417118	-1	33	19	13	23	tier1	no_errors	ENST00000464512	ensembl	human	known	74_37	rna	71.74	45.24	SNP	0.001	T	33	13
FUT9	10690	genome.wustl.edu	37	6	96651317	96651317	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:96651317G>A	ENST00000302103.5	+	3	612	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	96					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TCTCACAACGGACCGTTCACT	0.483													ENSG00000172461																									Melanoma(98;1369 1476 6592 22940 26587)												0													151.0	131.0	138.0					6																	96651317		2203	4300	6503	SO:0001583	missense	0			-	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.286G>A	6.37:g.96651317G>A	ENSP00000302599:p.Asp96Asn		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.D96N	ENST00000302103.5	37	c.286	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175592	0.78564	.	.	ENSG00000172461	ENST00000302103	T	0.24723	1.84	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.32675	0.0837	L	0.52126	1.63	0.80722	D	1	D	0.60160	0.987	D	0.67382	0.951	T	0.01484	-1.1343	10	0.17832	T	0.49	-18.2805	18.2419	0.89970	0.0:0.0:1.0:0.0	.	96	Q9Y231	FUT9_HUMAN	N	96	ENSP00000302599:D96N	ENSP00000302599:D96N	D	+	1	0	FUT9	96758038	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.420000	0.97426	2.617000	0.88574	0.655000	0.94253	GAC	-	FUT9	-	pfam_Glyco_trans_10		0.483	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	0	0	0	48	48	77	0.00	0.00	G	NM_006581		96651317	+1	30	44	18	41	tier1	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	62.50	51.76	SNP	1.000	A	30	18
UGT1A6	54578	genome.wustl.edu	37	2	234651547	234651547	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:234651547G>A	ENST00000305139.6	+	2	1000				UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A6_ENST00000406651.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AACGGAAAAAGGTAATGCTCA	0.358													ENSG00000227802																																					0																																										SO:0001627	intron_variant	0			-	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-24133G>A	2.37:g.234651547G>A			A6NKK6|B8K289|Q96TE7	R	SNP	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			-	DJB3	-	-		0.358	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DJB3	HGNC	protein_coding	OTTHUMT00000130988.1	0	0	0	61	61	52	0.00	0.00	G	NM_205862		234651547	-1	6	10	24	49	tier1	no_errors	ENST00000449667	ensembl	human	known	74_37	rna	20.00	16.95	SNP	0.000	A	6	24
BPIFB4	149954	genome.wustl.edu	37	20	31672720	31672720	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:31672720C>T	ENST00000375483.3	+	4	700	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	234						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGAGCTGACCCTCCCTCGGGT	0.672													ENSG00000186191																																					0													57.0	43.0	48.0					20																	31672720		2203	4300	6503	SO:0001583	missense	0			-	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.700C>T	20.37:g.31672720C>T	ENSP00000364632:p.Leu234Phe		Q5TDX6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L234F	ENST00000375483.3	37	c.700	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261430	0.59431	.	.	ENSG00000186191	ENST00000375483	T	0.08984	3.03	3.68	3.68	0.42216	.	0.000000	0.51477	D	0.000100	T	0.21674	0.0522	L	0.53249	1.67	0.43214	D	0.995089	D	0.76494	0.999	D	0.87578	0.998	T	0.00516	-1.1694	10	0.87932	D	0	-12.8669	10.7773	0.46356	0.0:1.0:0.0:0.0	.	234	P59827	BPIB4_HUMAN	F	234	ENSP00000364632:L234F	ENSP00000364632:L234F	L	+	1	0	BPIFB4	31136381	0.913000	0.31002	1.000000	0.80357	0.667000	0.39255	3.851000	0.55926	1.905000	0.55150	0.484000	0.47621	CTC	-	BPIFB4	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.672	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	0	0	0	87	87	41	0.00	0.00	C	NM_182519		31672720	+1	37	7	60	19	tier1	no_errors	ENST00000375483	ensembl	human	known	74_37	missense	37.76	26.92	SNP	0.981	T	37	60
CDH8	1006	genome.wustl.edu	37	16	61935302	61935302	+	Nonsense_Mutation	SNP	G	G	A	rs267604590		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:61935302G>A	ENST00000577390.1	-	3	1282	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q110*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q110*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q110*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATTTATTTGAAATATGGTC	0.418													ENSG00000150394																																					0													110.0	106.0	107.0					16																	61935302		2203	4300	6503	SO:0001587	stop_gained	0			-	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.328C>T	16.37:g.61935302G>A	ENSP00000462701:p.Gln110*		B3KWC1|Q14DC6|Q9ULB2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q110*	ENST00000577390.1	37	c.328	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.756303	0.97817	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.17	6.17	0.99709	.	0.221404	0.46442	D	0.000288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.125	0.72475	0.0:0.2445:0.7555:0.0	.	.	.	.	X	110	.	ENSP00000299345:Q110X	Q	-	1	0	CDH8	60492803	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.690000	0.54713	2.941000	0.99782	0.655000	0.94253	CAA	-	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.418	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	0	0	0	62	62	99	0.00	0.00	G	NM_001796		61935302	-1	25	22	37	50	tier1	no_errors	ENST00000577390	ensembl	human	known	74_37	nonsense	40.32	30.56	SNP	1.000	A	25	37
DNAH6	1768	genome.wustl.edu	37	2	85032873	85032873	+	Missense_Mutation	SNP	G	G	A	rs267599484		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:85032873G>A	ENST00000237449.6	+	70	11574	c.11566G>A	c.(11566-11568)Gaa>Aaa	p.E3856K	DNAH6_ENST00000389394.3_Missense_Mutation_p.E3856K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3856					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(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAGCAATGACGAAATTGTTCA	0.388													ENSG00000115423																																					0													127.0	109.0	115.0					2																	85032873		692	1591	2283	SO:0001583	missense	0			-	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.11566G>A	2.37:g.85032873G>A	ENSP00000237449:p.Glu3856Lys		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3856K	ENST00000237449.6	37	c.11566	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823350	0.90873	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.10382	2.88;2.88	5.65	5.65	0.86999	Dynein heavy chain (1);	0.000000	0.64402	D	0.000015	T	0.16727	0.0402	L	0.52364	1.645	0.80722	D	1	P	0.47962	0.903	P	0.45681	0.49	T	0.00341	-1.1804	10	0.42905	T	0.14	.	17.2148	0.86940	0.0:0.0:1.0:0.0	.	3856	Q9C0G6	DYH6_HUMAN	K	3856	ENSP00000374045:E3856K;ENSP00000237449:E3856K	ENSP00000237449:E3856K	E	+	1	0	DNAH6	84886384	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.966000	0.87956	2.662000	0.90505	0.643000	0.83706	GAA	-	DH6	-	pfam_Dynein_heavy_dom		0.388	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH6	HGNC	protein_coding	OTTHUMT00000328537.2	0	0	0	92	92	145	0.00	0.00	G	NM_001370		85032873	+1	48	55	49	50	tier1	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	49.48	52.38	SNP	1.000	A	48	49
KCNB2	9312	genome.wustl.edu	37	8	73848263	73848263	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:73848263G>A	ENST00000523207.1	+	3	1261	c.673G>A	c.(673-675)Gga>Aga	p.G225R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	225					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGACGAATTTGGACAACTCAA	0.468													ENSG00000182674																																					0													190.0	169.0	176.0					8																	73848263		2203	4300	6503	SO:0001583	missense	0			-	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.673G>A	8.37:g.73848263G>A	ENSP00000430846:p.Gly225Arg		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.G225R	ENST00000523207.1	37	c.673	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145858	0.57044	.	.	ENSG00000182674	ENST00000523207	D	0.97598	-4.45	5.93	5.93	0.95920	.	0.000000	0.44902	D	0.000411	D	0.98661	0.9551	M	0.87682	2.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	D	0.99007	1.0813	10	0.66056	D	0.02	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	225	Q92953	KCNB2_HUMAN	R	225	ENSP00000430846:G225R	ENSP00000430846:G225R	G	+	1	0	KCNB2	74010817	1.000000	0.71417	0.126000	0.21872	0.033000	0.12548	6.812000	0.75226	2.808000	0.96608	0.655000	0.94253	GGA	-	KCNB2	-	NULL		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	0	0	0	47	47	128	0.00	0.00	G	NM_004770		73848263	+1	21	36	40	57	tier1	no_errors	ENST00000523207	ensembl	human	known	74_37	missense	34.43	38.30	SNP	1.000	A	21	40
KCNQ5	56479	genome.wustl.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:73787510G>A	ENST00000370398.1	+	5	927	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000342056.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273E	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	273					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGGTACATAGGATTTTTGGTT	0.348													ENSG00000185760																									GBM(142;1375 1859 14391 23261 44706)												0													136.0	116.0	123.0					6																	73787510		2203	4300	6503	SO:0001583	missense	0			-	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.818G>A	6.37:g.73787510G>A	ENSP00000359425:p.Gly273Glu		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G273E	ENST00000370398.1	37	c.818	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990085	0.93106	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.86	5.86	0.93980	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.963;0.997;0.998;0.997;1.0;0.998	D	0.99497	1.0952	10	0.87932	D	0	-13.2574	20.1823	0.98208	0.0:0.0:1.0:0.0	.	273;273;273;273;273;273	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	E	273	ENSP00000345055:G273E;ENSP00000347326:G273E;ENSP00000359425:G273E;ENSP00000359419:G273E;ENSP00000385501:G273E;ENSP00000347853:G273E;ENSP00000384453:G273E;ENSP00000409861:G273E	ENSP00000345055:G273E	G	+	2	0	KCNQ5	73844231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.771000	0.95319	0.650000	0.86243	GGA	-	KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl		0.348	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	0	0	0	70	70	103	0.00	0.00	G	NM_019842		73787510	+1	27	28	81	68	tier1	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	25.00	29.17	SNP	1.000	A	27	81
NIN	51199	genome.wustl.edu	37	14	51206166	51206166	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:51206166G>A	ENST00000382041.3	-	26	5678	c.5488C>T	c.(5488-5490)Cat>Tat	p.H1830Y	NIN_ENST00000382043.4_Missense_Mutation_p.H1117Y|NIN_ENST00000530997.2_Missense_Mutation_p.H1830Y|NIN_ENST00000453196.1_Missense_Mutation_p.H1830Y|NIN_ENST00000389868.3_Missense_Mutation_p.H1117Y|NIN_ENST00000324330.9_Missense_Mutation_p.H1830Y|NIN_ENST00000245441.5_Missense_Mutation_p.H1830Y	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1830					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCTGGTTATGGAGCCCTGAT	0.473			T	PDGFRB	MPD								ENSG00000100503																												Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													168.0	154.0	159.0					14																	51206166		2203	4300	6503	SO:0001583	missense	0			-	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5488C>T	14.37:g.51206166G>A	ENSP00000371472:p.His1830Tyr		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tR-bd_arm,pfscan_EF_hand_dom	p.H1830Y	ENST00000382041.3	37	c.5488	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.829|4.829	0.154207|0.154207	0.09236|0.09236	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.62498|.	0.02;0.02;0.02;0.02;0.02;0.02|.	5.85|5.85	4.96|4.96	0.65561|0.65561	.|.	0.545294|.	0.18824|.	N|.	0.130174|.	T|T	0.44159|0.44159	0.1280|0.1280	L|L	0.44542|0.44542	1.39|1.39	0.19300|0.19300	N|N	0.999972|0.999972	B;B;P;P;P|.	0.47962|.	0.039;0.01;0.728;0.903;0.467|.	B;B;B;B;B|.	0.43052|.	0.028;0.02;0.201;0.406;0.201|.	T|T	0.32561|0.32561	-0.9902|-0.9902	10|5	0.66056|.	D|.	0.02|.	0.0291|0.0291	13.1936|13.1936	0.59726|0.59726	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.	1836;1830;1830;1117;1830|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	Y|L	1830;1813;1117;1117;1836;1830;1830;1830|1320	ENSP00000245441:H1830Y;ENSP00000374518:H1117Y;ENSP00000371474:H1117Y;ENSP00000371472:H1830Y;ENSP00000324210:H1830Y;ENSP00000412391:H1830Y|.	ENSP00000245441:H1830Y|.	H|P	-|-	1|2	0|0	NIN|NIN	50275916|50275916	1.000000|1.000000	0.71417|0.71417	0.179000|0.179000	0.23059|0.23059	0.335000|0.335000	0.28730|0.28730	4.848000|4.848000	0.62874|0.62874	1.625000|1.625000	0.50366|0.50366	0.655000|0.655000	0.94253|0.94253	CAT|CCA	-	NIN	-	NULL		0.473	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	0	0	0	79	79	95	0.00	0.00	G	NM_182946		51206166	-1	61	46	42	42	tier1	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	59.22	52.27	SNP	0.528	A	61	42
KCNK2	3776	genome.wustl.edu	37	1	215259781	215259781	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:215259781G>A	ENST00000444842.2	+	2	267	c.117G>A	c.(115-117)acG>acA	p.T39T	KCNK2_ENST00000391894.2_Silent_p.T24T|KCNK2_ENST00000391895.2_Silent_p.T35T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	39					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.T24T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CGTTTTCCACGAAACCCACAG	0.507													ENSG00000082482																																					1	Substitution - coding silent(1)	large_intestine(1)											73.0	70.0	71.0					1																	215259781		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.117G>A	1.37:g.215259781G>A			A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.T39	ENST00000444842.2	37	c.117	CCDS41467.1	1																																																																																			-	KCNK2	-	NULL		0.507	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	0	0	1	66	66	100	0.00	0.99	G	NM_014217		215259781	+1	20	19	40	70	tier1	no_errors	ENST00000444842	ensembl	human	known	74_37	silent	33.33	21.35	SNP	0.984	A	20	40
BCL6	604	genome.wustl.edu	37	3	187443403	187443403	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:187443403G>A	ENST00000406870.2	-	8	2089	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R575C|BCL6_ENST00000450123.2_Missense_Mutation_p.R519C|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	575					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ATGTTGCAACGATAGGGTTTC	0.493			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								ENSG00000113916																												Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													101.0	109.0	106.0					3																	187443403		2203	4300	6503	SO:0001583	missense	0			-		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1723C>T	3.37:g.187443403G>A	ENSP00000384371:p.Arg575Cys		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R575C	ENST00000406870.2	37	c.1723	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757916	0.69648	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.36157	1.27;1.27;3.11	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099111	0.64402	D	0.000002	T	0.58991	0.2161	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.80764	0.994;0.549	T	0.59558	-0.7432	10	0.87932	D	0	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	519;575	B8PSA7;P41182	.;BCL6_HUMAN	C	575;575;519	ENSP00000384371:R575C;ENSP00000232014:R575C;ENSP00000413122:R519C	ENSP00000232014:R575C	R	-	1	0	BCL6	188926097	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.514000	0.73746	2.679000	0.91253	0.655000	0.94253	CGT	-	BCL6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.493	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	0	0	0	64	64	167	0.00	0.00	G	NM_138931		187443403	-1	26	37	58	83	tier1	no_errors	ENST00000232014	ensembl	human	known	74_37	missense	30.95	30.83	SNP	1.000	A	26	58
CNNM4	26504	genome.wustl.edu	37	2	97427812	97427812	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97427812T>G	ENST00000377075.2	+	1	1174	c.1076T>G	c.(1075-1077)cTc>cGc	p.L359R		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	359					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AAAGAGGAGCTCAATATGATC	0.512													ENSG00000158158																																					0													85.0	76.0	79.0					2																	97427812		2203	4300	6503	SO:0001583	missense	0			-	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1076T>G	2.37:g.97427812T>G	ENSP00000366275:p.Leu359Arg		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L359R	ENST00000377075.2	37	c.1076	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.000831	0.74818	.	.	ENSG00000158158	ENST00000377075	T	0.72282	-0.64	5.19	5.19	0.71726	.	0.084250	0.49305	D	0.000152	T	0.79592	0.4472	L	0.60455	1.87	0.80722	D	1	D	0.59767	0.986	P	0.62184	0.899	T	0.81994	-0.0677	10	0.87932	D	0	-16.0395	14.0284	0.64599	0.0:0.0:0.0:1.0	.	359	Q6P4Q7	CNNM4_HUMAN	R	359	ENSP00000366275:L359R	ENSP00000366275:L359R	L	+	2	0	CNNM4	96791539	1.000000	0.71417	0.944000	0.38274	0.961000	0.63080	7.991000	0.88244	1.950000	0.56595	0.533000	0.62120	CTC	-	CNNM4	-	NULL		0.512	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	0	0	0	39	39	129	0.00	0.00	T	NM_020184		97427812	+1	15	48	13	49	tier1	no_errors	ENST00000377075	ensembl	human	known	74_37	missense	53.57	49.48	SNP	1.000	G	15	13
MARCO	8685	genome.wustl.edu	37	2	119749400	119749400	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:119749400C>T	ENST00000327097.4	+	14	1291	c.1156C>T	c.(1156-1158)Ccc>Tcc	p.P386S	MARCO_ENST00000541757.1_Missense_Mutation_p.P308S	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	386	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTGGCAGGTCCCAAGGGAGC	0.587													ENSG00000019169																									GBM(8;18 374 7467 11269 32796)												0													34.0	33.0	33.0					2																	119749400		2199	4300	6499	SO:0001583	missense	0			-	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1156C>T	2.37:g.119749400C>T	ENSP00000318916:p.Pro386Ser		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.P386S	ENST00000327097.4	37	c.1156	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	C	7.159	0.585334	0.13749	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93133	-3.17;-3.17	5.5	3.54	0.40534	.	1.225560	0.05500	N	0.558290	D	0.91737	0.7387	L	0.37697	1.125	0.09310	N	1	B	0.27416	0.178	B	0.39419	0.299	T	0.81008	-0.1127	9	.	.	.	.	9.3066	0.37878	0.0:0.7372:0.1761:0.0867	.	386	Q9UEW3	MARCO_HUMAN	S	386;386;308	ENSP00000318916:P386S;ENSP00000441769:P308S	.	P	+	1	0	MARCO	119465870	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.218000	0.17622	0.808000	0.34231	-0.797000	0.03246	CCC	-	MARCO	-	pfam_Collagen		0.587	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	0	0	0	64	64	39	0.00	0.00	C	NM_006770		119749400	+1	11	4	47	32	tier1	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	18.97	11.11	SNP	0.003	T	11	47
TTN	7273	genome.wustl.edu	37	2	179458060	179458060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179458060C>T	ENST00000591111.1	-	249	54176	c.53952G>A	c.(53950-53952)tgG>tgA	p.W17984*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W10752*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W19625*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W17057*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W10685*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W10560*|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17984	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)			TAACTCTAGCCCATCGTTTAG	0.403													ENSG00000155657																																					0													156.0	156.0	156.0					2																	179458060		1867	4096	5963	SO:0001587	stop_gained	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.53952G>A	2.37:g.179458060C>T	ENSP00000465570:p.Trp17984*		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	Nonsense_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.W17057*	ENST00000591111.1	37	c.51171		2	.	.	.	.	.	.	.	.	.	.	C	60	50.387982	0.99988	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	17057;10560;10752;10685;10558	.	ENSP00000340554:W10752X	W	-	3	0	TTN	179166306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.710000	0.84655	2.937000	0.99478	0.650000	0.86243	TGG	-	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	130	130	152	0.00	0.00	C	NM_133378		179458060	-1	29	46	56	56	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	34.12	45.10	SNP	1.000	T	29	56
UNC80	285175	genome.wustl.edu	37	2	210745768	210745768	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:210745768C>T	ENST00000439458.1	+	25	4146	c.4066C>T	c.(4066-4068)Ctg>Ttg	p.L1356L	UNC80_ENST00000272845.6_Silent_p.L1351L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1356					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TACCACCTTCCTGCGAGAGAC	0.502													ENSG00000144406																																					0													143.0	116.0	124.0					2																	210745768		692	1591	2283	SO:0001819	synonymous_variant	0			-	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.4066C>T	2.37:g.210745768C>T			B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	NULL	p.L1356	ENST00000439458.1	37	c.4066	CCDS46504.1	2																																																																																			-	UNC80	-	NULL		0.502	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		0	0	0	64	64	107	0.00	0.00	C	NM_182587		210745768	+1	21	39	36	62	tier1	no_errors	ENST00000439458	ensembl	human	known	74_37	silent	36.84	38.61	SNP	1.000	T	21	36
GPBP1L1	60313	genome.wustl.edu	37	1	46094016	46094016	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:46094016G>A	ENST00000290795.3	-	12	2558	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Missense_Mutation_p.P446L			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	446					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GCTTCTCCAAGGGGAGAACAG	0.453													ENSG00000159592																																					0													135.0	130.0	132.0					1																	46094016		2203	4300	6503	SO:0001583	missense	0			-		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1337C>T	1.37:g.46094016G>A	ENSP00000290795:p.Pro446Leu		D3DQ10|Q9H751	Missense_Mutation	SNP	NULL	p.P446L	ENST00000290795.3	37	c.1337	CCDS528.1	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611442	0.66558	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.47869	0.83;0.83	6.02	6.02	0.97574	.	0.111909	0.64402	D	0.000009	T	0.50240	0.1604	L	0.52573	1.65	0.49582	D	0.9998	P	0.40515	0.719	B	0.44085	0.44	T	0.51442	-0.8705	10	0.72032	D	0.01	-4.2987	15.1526	0.72713	0.0:0.0:0.8262:0.1738	.	446	Q9HC44	GPBL1_HUMAN	L	446	ENSP00000290795:P446L;ENSP00000347224:P446L	ENSP00000290795:P446L	P	-	2	0	GPBP1L1	45866603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.122000	0.71608	2.865000	0.98341	0.655000	0.94253	CCT	-	GPBP1L1	-	NULL		0.453	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	HGNC	protein_coding	OTTHUMT00000098375.1	0	0	0	38	38	112	0.00	0.00	G	NM_021639		46094016	-1	15	54	25	71	tier1	no_errors	ENST00000290795	ensembl	human	known	74_37	missense	37.50	42.86	SNP	1.000	A	15	25
FAM160A1	729830	genome.wustl.edu	37	4	152571230	152571230	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:152571230C>T	ENST00000505231.1	+	9	2196	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	FAM160A1_ENST00000435205.1_Silent_p.I679I			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	679										endometrium(2)|kidney(1)	3						GTGTCCCCATCAACAACGGCC	0.567													ENSG00000164142																																					0													40.0	49.0	46.0					4																	152571230		692	1591	2283	SO:0001819	synonymous_variant	0			-		CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.2037C>T	4.37:g.152571230C>T			Q6ZUS2	Silent	SNP	pfam_RetinoicA-induced_16-like	p.I679	ENST00000505231.1	37	c.2037	CCDS47146.1	4																																																																																			-	FAM160A1	-	NULL		0.567	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	0	0	1	52	52	117	0.00	0.85	C	NM_001109977		152571230	+1	21	41	18	24	tier1	no_errors	ENST00000435205	ensembl	human	known	74_37	silent	53.85	63.08	SNP	0.000	T	21	18
AGPAT3	56894	genome.wustl.edu	37	21	45401061	45401061	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:45401061G>A	ENST00000398063.2	+	8	1527	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000546158.1_Silent_p.V345V|AGPAT3_ENST00000327505.2_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Silent_p.V345V	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	345					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGGGGTTTGTGGGAGCAGGTA	0.562													ENSG00000160216																									Pancreas(60;623 1650 5574 52796)												0													127.0	108.0	114.0					21																	45401061		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1035G>A	21.37:g.45401061G>A			D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.V345	ENST00000398063.2	37	c.1035	CCDS13703.1	21																																																																																			-	AGPAT3	-	NULL		0.562	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGPAT3	HGNC	protein_coding	OTTHUMT00000195722.1	0	0	0	42	42	114	0.00	0.00	G	NM_020132		45401061	+1	16	31	37	60	tier1	no_errors	ENST00000291572	ensembl	human	known	74_37	silent	30.19	34.07	SNP	0.775	A	16	37
GIMAP6	474344	genome.wustl.edu	37	7	150327159	150327159	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150327159C>T	ENST00000328902.5	-	2	288	c.72G>A	c.(70-72)ctG>ctA	p.L24L	GIMAP6_ENST00000493969.1_Silent_p.L24L	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	24						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGACAGCTCCAGCACAGGAT	0.463													ENSG00000133561																																					0													186.0	188.0	187.0					7																	150327159		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.72G>A	7.37:g.150327159C>T			C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.L24	ENST00000328902.5	37	c.72	CCDS34778.1	7																																																																																			-	GIMAP6	-	superfamily_P-loop_NTPase		0.463	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	HGNC	protein_coding	OTTHUMT00000353457.1	0	0	1	44	44	55	0.00	1.79	C	NM_024711		150327159	-1	9	23	26	41	tier1	no_errors	ENST00000328902	ensembl	human	known	74_37	silent	25.71	35.38	SNP	0.000	T	9	26
AP001372.2	0	genome.wustl.edu	37	11	74207928	74207928	+	lincRNA	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:74207928C>A	ENST00000526036.1	+	0	843																											cccatgcattcccacaaaaag	0.512													ENSG00000254837																																					0																																												0			-																													11.37:g.74207928C>A				R	SNP	-	NULL	ENST00000526036.1	37	NULL		11																																																																																			-	AP001372.2	-	-		0.512	AP001372.2-001	KNOWN	basic	lincRNA	LOC100287896	Clone_based_vega_gene	lincRNA	OTTHUMT00000317865.2	0	0	0	13	13	104	0.00	0.00	C			74207928	+1	10	38	18	54	tier1	no_errors	ENST00000526036	ensembl	human	known	74_37	rna	35.71	41.30	SNP	0.209	A	10	18
NAV1	89796	genome.wustl.edu	37	1	201777651	201777651	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:201777651G>A	ENST00000367296.4	+	19	4371	c.3951G>A	c.(3949-3951)aaG>aaA	p.K1317K	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.K923K|NAV1_ENST00000367300.3_Silent_p.K1257K|MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Silent_p.K1314K|NAV1_ENST00000367302.1_Silent_p.K1270K|NAV1_ENST00000367297.4_Silent_p.K1309K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1317					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TATGGGAGAAGGAAATGAAGC	0.567													ENSG00000134369																																					0													82.0	86.0	85.0					1																	201777651		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3951G>A	1.37:g.201777651G>A			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1317	ENST00000367296.4	37	c.3951	CCDS1414.2	1																																																																																			-	V1	-	NULL		0.567	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	V1	HGNC	protein_coding	OTTHUMT00000087013.1	0	0	0	69	69	106	0.00	0.00	G	NM_020443		201777651	+1	11	18	32	54	tier1	no_errors	ENST00000367296	ensembl	human	known	74_37	silent	25.58	25.00	SNP	0.996	A	11	32
GTF2A1L	11036	genome.wustl.edu	37	2	48873756	48873756	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:48873756G>A	ENST00000403751.3	+	6	590	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E151K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E889K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E889K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E889K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E842K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E889K|LHCGR_ENST00000420913.3_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	185					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAACTACTGAAAAATCACA	0.418													ENSG00000068781																																					0													90.0	88.0	89.0					2																	48873756		2203	4300	6503	SO:0001583	missense	0			-	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.553G>A	2.37:g.48873756G>A	ENSP00000384597:p.Glu185Lys		B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.E889K	ENST00000403751.3	37	c.2665	CCDS46281.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329166	0.81690	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T	0.51071	2.93;2.91;2.93;2.93;3.11;1.02;0.72	5.29	4.42	0.53409	.	0.392324	0.23782	N	0.044614	T	0.66896	0.2836	M	0.78049	2.395	0.80722	D	1	D;B;B;D;B	0.71674	0.998;0.02;0.339;0.992;0.043	D;B;B;P;B	0.80764	0.994;0.011;0.187;0.883;0.043	T	0.70124	-0.4958	10	0.66056	D	0.02	.	11.0337	0.47789	0.0861:0.0:0.9139:0.0	.	151;842;889;185;889	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	K	889;889;889;889;842;184;151;194;151;185	ENSP00000385499:E889K;ENSP00000385701:E889K;ENSP00000378236:E889K;ENSP00000311493:E889K;ENSP00000378234:E842K;ENSP00000412645:E151K;ENSP00000396702:E194K	ENSP00000384597:E185K	E	+	1	0	STON1-GTF2A1L;GTF2A1L	48727260	1.000000	0.71417	0.136000	0.22124	0.978000	0.69477	2.801000	0.47908	1.472000	0.48140	0.591000	0.81541	GAA	-	STON1-GTF2A1L	-	pfam_TFIIA_asu/bsu		0.418	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323852.4	0	0	0	73	73	113	0.00	0.00	G	NM_006872		48873756	+1	9	21	57	89	tier1	no_errors	ENST00000309827	ensembl	human	known	74_37	missense	13.64	19.09	SNP	0.760	A	9	57
DNAH9	1770	genome.wustl.edu	37	17	11687748	11687748	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:11687748G>A	ENST00000262442.4	+	41	8021	c.7953G>A	c.(7951-7953)ctG>ctA	p.L2651L	DNAH9_ENST00000454412.2_Silent_p.L2651L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2651	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCCCACTGATCGATCTGG	0.527													ENSG00000007174																																					0													173.0	165.0	168.0					17																	11687748		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7953G>A	17.37:g.11687748G>A			A2VCQ8|O15064|O95494|Q9NQ28	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.L2651	ENST00000262442.4	37	c.7953	CCDS11160.1	17																																																																																			-	DH9	-	superfamily_P-loop_NTPase		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH9	HGNC	protein_coding	OTTHUMT00000252756.2	0	0	0	61	61	126	0.00	0.00	G	NM_001372		11687748	+1	22	44	18	33	tier1	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	55.00	57.14	SNP	0.824	A	22	18
PLCB1	23236	genome.wustl.edu	37	20	8637849	8637849	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:8637849G>A	ENST00000338037.6	+	8	640	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E205K|PLCB1_ENST00000378641.3_Missense_Mutation_p.E205K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	205					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AATACCTCAAGAAGATTTCAC	0.393													ENSG00000182621																																					0													114.0	113.0	114.0					20																	8637849		2203	4300	6503	SO:0001583	missense	0			-	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.613G>A	20.37:g.8637849G>A	ENSP00000338185:p.Glu205Lys		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E205K	ENST00000338037.6	37	c.613	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121482	0.77436	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.44482	0.92;0.92;0.92	5.15	5.15	0.70609	.	0.223503	0.47455	D	0.000235	T	0.40767	0.1130	L	0.42245	1.32	0.51233	D	0.999914	B;P	0.45176	0.001;0.852	B;B	0.42593	0.003;0.392	T	0.14117	-1.0484	10	0.25751	T	0.34	.	18.9962	0.92813	0.0:0.0:1.0:0.0	.	205;205	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	205;205;205;125;125	ENSP00000367908:E205K;ENSP00000338185:E205K;ENSP00000367904:E205K	ENSP00000338185:E205K	E	+	1	0	PLCB1	8585849	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.637000	0.98443	2.549000	0.85964	0.555000	0.69702	GAA	-	PLCB1	-	pirsf_PLC-beta		0.393	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	0	0	0	66	66	86	0.00	0.00	G			8637849	+1	23	40	57	76	tier1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	28.75	34.48	SNP	1.000	A	23	57
MUC19	283463	genome.wustl.edu	37	12	40823467	40823467	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:40823467C>T	ENST00000454784.4	+	14	1501	c.768C>T	c.(766-768)ttC>ttT	p.F256F	RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric	256	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						ACTGCCACTTCCTGGCCGTTC	0.418													ENSG00000205592																																					0																																										SO:0001819	synonymous_variant	0			-	AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.768C>T	12.37:g.40823467C>T			Q8NA85	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich	p.F256	ENST00000454784.4	37	c.768		12																																																																																			-	MUC19	-	pfam_VWF_type-D,smart_VWF_type-D		0.418	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	0	0	0	82	82	143	0.00	0.00	C	XM_003403524		40823467	+1	14	42	52	55	tier1	no_errors	ENST00000454784	ensembl	human	novel	74_37	silent	21.21	43.30	SNP	0.959	T	14	52
BAZ2A	11176	genome.wustl.edu	37	12	56995526	56995526	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:56995526G>A	ENST00000551812.1	-	20	4074	c.3881C>T	c.(3880-3882)cCg>cTg	p.P1294L	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P1262L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1292L|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1264L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1294	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TAGTTTTCCCGGACTGCTATC	0.562													ENSG00000076108																																					0													154.0	161.0	159.0					12																	56995526		2055	4201	6256	SO:0001583	missense	0			-	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3881C>T	12.37:g.56995526G>A	ENSP00000446880:p.Pro1294Leu		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_D-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_D-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_D-bd,smart_AT_hook_D-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_D-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P1294L	ENST00000551812.1	37	c.3881	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	14.73	2.624001	0.46840	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.72051	-0.26;-0.24;-0.25;-0.62;-0.27	5.33	5.33	0.75918	.	0.216021	0.38663	N	0.001619	T	0.81009	0.4734	L	0.53249	1.67	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.72075	0.951;0.976;0.908;0.976	T	0.82174	-0.0588	10	0.72032	D	0.01	.	16.3139	0.82906	0.0:0.0:1.0:0.0	.	1292;1294;1294;1267	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	L	1264;1262;1294;230;1292	ENSP00000368754:P1264L;ENSP00000179765:P1262L;ENSP00000446880:P1294L;ENSP00000448760:P230L;ENSP00000447941:P1292L	ENSP00000179765:P1262L	P	-	2	0	BAZ2A	55281793	1.000000	0.71417	0.994000	0.49952	0.234000	0.25298	4.172000	0.58243	2.668000	0.90789	0.655000	0.94253	CCG	-	BAZ2A	-	NULL		0.562	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	0	0	0	31	31	77	0.00	0.00	G	NM_013449		56995526	-1	17	13	16	25	tier1	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	51.52	34.21	SNP	0.994	A	17	16
KBTBD12	166348	genome.wustl.edu	37	3	127642470	127642470	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:127642470C>T	ENST00000405109.1	+	2	1033	c.566C>T	c.(565-567)tCc>tTc	p.S189F	KBTBD12_ENST00000405256.1_Missense_Mutation_p.S189F|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	189	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTTAACATATCCAGAGAAGAG	0.368													ENSG00000187715																																					0													55.0	51.0	52.0					3																	127642470		1867	4105	5972	SO:0001583	missense	0			-		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.566C>T	3.37:g.127642470C>T	ENSP00000385957:p.Ser189Phe		B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S189F	ENST00000405109.1	37	c.566	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680492	0.68042	.	.	ENSG00000187715	ENST00000405109;ENST00000405256	T;T	0.69685	-0.42;-0.42	5.75	5.75	0.90469	BTB/Kelch-associated (2);	.	.	.	.	T	0.81607	0.4858	M	0.86420	2.815	0.42518	D	0.992991	P	0.34780	0.468	P	0.47528	0.549	T	0.82731	-0.0312	9	0.72032	D	0.01	.	19.9569	0.97222	0.0:1.0:0.0:0.0	.	189	Q3ZCT8	KBTBC_HUMAN	F	189	ENSP00000385957:S189F;ENSP00000385879:S189F	ENSP00000385957:S189F	S	+	2	0	KBTBD12	129125160	0.987000	0.35691	0.765000	0.31456	0.967000	0.64934	5.712000	0.68407	2.729000	0.93468	0.460000	0.39030	TCC	-	KBTBD12	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.368	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	0	0	0	79	79	87	0.00	0.00	C	NM_207335		127642470	+1	36	29	69	86	tier1	no_errors	ENST00000405109	ensembl	human	known	74_37	missense	34.29	25.22	SNP	0.976	T	36	69
ZC3H18	124245	genome.wustl.edu	37	16	88643765	88643765	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:88643765C>T	ENST00000301011.5	+	2	434	c.234C>T	c.(232-234)tcC>tcT	p.S78S	ZC3H18_ENST00000452588.2_Silent_p.S78S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	78						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCTAAATCCCAAGACCAGG	0.627													ENSG00000158545																									Ovarian(121;375 2276 20373 38669)												0													36.0	39.0	38.0					16																	88643765		2197	4300	6497	SO:0001819	synonymous_variant	0			-	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.234C>T	16.37:g.88643765C>T			Q96DG4|Q96MP7	Silent	SNP	smart_Znf_CCCH	p.S78	ENST00000301011.5	37	c.234	CCDS10967.1	16																																																																																			-	ZC3H18	-	NULL		0.627	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	0	0	0	51	51	53	0.00	0.00	C	NM_144604		88643765	+1	30	23	37	41	tier1	no_errors	ENST00000301011	ensembl	human	known	74_37	silent	44.78	35.94	SNP	0.997	T	30	37
ARHGAP29	9411	genome.wustl.edu	37	1	94643582	94643582	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:94643582C>T	ENST00000260526.6	-	21	2804	c.2622G>A	c.(2620-2622)ttG>ttA	p.L874L	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	874	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAAACTCTACCAAGCGTGCTT	0.453													ENSG00000137962																																					0													148.0	140.0	142.0					1																	94643582		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2622G>A	1.37:g.94643582C>T			O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L874	ENST00000260526.6	37	c.2622	CCDS748.1	1																																																																																			-	ARHGAP29	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.453	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	0	0	0	58	58	100	0.00	0.00	C	NM_004815		94643582	-1	25	54	35	54	tier1	no_errors	ENST00000260526	ensembl	human	known	74_37	silent	41.67	50.00	SNP	0.340	T	25	35
LOC101927209	101927209	genome.wustl.edu	37	1	142729915	142729915	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:142729915C>T	ENST00000610091.1	-	0	52																											TATTCTGTTTCCTTTTTCATG	0.398													ENSG00000203849																																					0																																												0			-																													1.37:g.142729915C>T				R	SNP	-	NULL	ENST00000610091.1	37	NULL		1																																																																																			-	RP11-417J8.6	-	-		0.398	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2	0	0	0	216	216	9	0.00	0.00	C			142729915	-1	43	4	192	11	tier1	no_errors	ENST00000610091	ensembl	human	known	74_37	rna	18.30	26.67	SNP	0.004	T	43	192
ALPK3	57538	genome.wustl.edu	37	15	85383923	85383923	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:85383923C>T	ENST00000258888.5	+	5	2186	c.2019C>T	c.(2017-2019)acC>acT	p.T673T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	673					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTCCTTGACCCCCCAGCCGA	0.622													ENSG00000136383																																					0													40.0	39.0	39.0					15																	85383923		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2019C>T	15.37:g.85383923C>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.T673	ENST00000258888.5	37	c.2019	CCDS10333.1	15																																																																																			-	ALPK3	-	NULL		0.622	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	0	0	0	139	139	49	0.00	0.00	C	NM_020778		85383923	+1	21	9	78	31	tier1	no_errors	ENST00000258888	ensembl	human	known	74_37	silent	21.21	22.50	SNP	0.019	T	21	78
GTPBP8	29083	genome.wustl.edu	37	3	112709809	112709809	+	5'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:112709809G>A	ENST00000383678.2	+	0	45				RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000383677.3_5'Flank	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)						barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CCAGGCCACAGGAGTAAAATC	0.627													ENSG00000272844																																					0													8.0	11.0	10.0					3																	112709809		2138	4177	6315	SO:0001623	5_prime_UTR_variant	0			-	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.-38G>A	3.37:g.112709809G>A			A6NE99|A6NN11|A8K0P6|Q5I0Y4	R	SNP	-	NULL	ENST00000383678.2	37	NULL	CCDS33820.1	3																																																																																			-	RP11-484K9.4	-	-		0.627	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	Clone_based_vega_gene	protein_coding	OTTHUMT00000354260.2	0	0	0	30	30	18	0.00	0.00	G	NM_014170		112709809	-1	14	5	29	18	tier1	no_errors	ENST00000609673	ensembl	human	known	74_37	rna	32.56	21.74	SNP	0.000	A	14	29
POLG	5428	genome.wustl.edu	37	15	89869847	89869847	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:89869847G>T	ENST00000268124.5	-	9	2041	c.1708C>A	c.(1708-1710)Cct>Act	p.P570T	POLG_ENST00000442287.2_Missense_Mutation_p.P570T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	570					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCTCACCCAGGGTGTCCAGGA	0.612								DNA polymerases (catalytic subunits)					ENSG00000140521																									Colon(73;648 1203 11348 18386 27782)												0													49.0	49.0	49.0					15																	89869847		2200	4299	6499	SO:0001583	missense	0			-	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1708C>A	15.37:g.89869847G>T	ENSP00000268124:p.Pro570Thr		Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_D-dir_D_pol_A_mt_sub,pfam_D-dir_D_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_A_palm_dom,prints_D-dir_D_pol_A_mt	p.P570T	ENST00000268124.5	37	c.1708	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979267	0.92982	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.97665	-2.21;-2.21;-4.48	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.97983	0.9336	M	0.87456	2.885	0.80722	D	1	D	0.61697	0.99	P	0.52554	0.702	D	0.98931	1.0787	10	0.87932	D	0	.	18.2639	0.90046	0.0:0.0:1.0:0.0	.	570	P54098	DPOG1_HUMAN	T	570;570;26	ENSP00000268124:P570T;ENSP00000399851:P570T;ENSP00000432389:P26T	ENSP00000268124:P570T	P	-	1	0	POLG	87670851	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.521000	0.98029	2.648000	0.89879	0.462000	0.41574	CCT	-	POLG	-	pirsf_D-dir_D_pol_A_mt_sub		0.612	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	0	0	0	30	30	46	0.00	0.00	G	NM_002693		89869847	-1	13	13	24	18	tier1	no_errors	ENST00000268124	ensembl	human	known	74_37	missense	35.14	41.94	SNP	1.000	T	13	24
FER1L6	654463	genome.wustl.edu	37	8	125132008	125132008	+	Missense_Mutation	SNP	C	C	G	rs201702749		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:125132008C>G	ENST00000522917.1	+	41	5757	c.5551C>G	c.(5551-5553)Cga>Gga	p.R1851G	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1851G|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1851						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGCCATCAGCCGAAGGATCGT	0.458													ENSG00000214814																																					0													173.0	182.0	179.0					8																	125132008		2040	4190	6230	SO:0001583	missense	0			-	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5551C>G	8.37:g.125132008C>G	ENSP00000428280:p.Arg1851Gly			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.R1851G	ENST00000522917.1	37	c.5551	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495949	0.44352	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81330	-1.48;-1.48	6.03	5.13	0.70059	.	1.303970	0.05193	U	0.503432	T	0.68072	0.2961	N	0.08118	0	0.37909	D	0.931308	B	0.25007	0.116	B	0.23150	0.044	T	0.50039	-0.8874	10	0.40728	T	0.16	-1.2706	11.1252	0.48315	0.2564:0.6198:0.1238:0.0	.	1851	Q2WGJ9	FR1L6_HUMAN	G	1851	ENSP00000428280:R1851G;ENSP00000381982:R1851G	ENSP00000381982:R1851G	R	+	1	2	FER1L6	125201189	0.466000	0.25823	0.999000	0.59377	0.909000	0.53808	1.271000	0.33098	1.506000	0.48736	0.655000	0.94253	CGA	-	FER1L6	-	superfamily_ABC1_TM_dom		0.458	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	0	0	0	38	38	85	0.00	0.00	C	NM_001039112		125132008	+1	4	21	36	65	tier1	no_errors	ENST00000399018	ensembl	human	known	74_37	missense	10.00	24.42	SNP	0.973	G	4	36
TMPRSS11B	132724	genome.wustl.edu	37	4	69100305	69100305	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:69100305C>T	ENST00000332644.5	-	5	506	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	115	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ACTTGAATTTCAGCTGTAACT	0.373													ENSG00000185873																																					0													103.0	94.0	97.0					4																	69100305		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.345G>A	4.37:g.69100305C>T			A8K4D9	Silent	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L115	ENST00000332644.5	37	c.345	CCDS3521.1	4																																																																																			-	TMPRSS11B	-	pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom		0.373	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	HGNC	protein_coding	OTTHUMT00000251431.2	0	0	0	96	96	110	0.00	0.00	C	NM_182502		69100305	-1	49	37	26	26	tier1	no_errors	ENST00000332644	ensembl	human	known	74_37	silent	65.33	58.73	SNP	0.069	T	49	26
C7orf55-LUC7L2	100996928	genome.wustl.edu	37	7	139107185	139107185	+	3'UTR	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:139107185A>G	ENST00000354926.4	+	0	1632				C7orf55-LUC7L2_ENST00000541170.3_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_3'UTR|LUC7L2_ENST00000541515.3_3'UTR|C7orf55-LUC7L2_ENST00000482860.1_3'UTR	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AGATCCAGACACCAGATCCAG	0.423													ENSG00000146963																																					0																																										SO:0001624	3_prime_UTR_variant	0			-		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.*99A>G	7.37:g.139107185A>G				R	SNP	-	NULL	ENST00000354926.4	37	NULL	CCDS43656.1	7																																																																																			-	C7orf55-LUC7L2	-	-		0.423	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf55-LUC7L2	HGNC	protein_coding	OTTHUMT00000323618.2	0	0	1	49	49	77	0.00	1.28	A			139107185	+1	9	17	22	52	tier1	no_errors	ENST00000482860	ensembl	human	known	74_37	rna	29.03	24.64	SNP	0.967	G	9	22
TENM4	26011	genome.wustl.edu	37	11	78440565	78440565	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:78440565G>A	ENST00000278550.7	-	22	3724	c.3262C>T	c.(3262-3264)Ctc>Ttc	p.L1088F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1088					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ACCTTCATGAGGTTGAAGGGG	0.577													ENSG00000149256																																					0													53.0	59.0	57.0					11																	78440565		1964	4143	6107	SO:0001583	missense	0			-	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3262C>T	11.37:g.78440565G>A	ENSP00000278550:p.Leu1088Phe		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L1088F	ENST00000278550.7	37	c.3262	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253930	0.80135	.	.	ENSG00000149256	ENST00000278550	D	0.96830	-4.14	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	D	0.98397	0.9467	M	0.89601	3.045	0.58432	D	0.999993	D	0.76494	0.999	D	0.80764	0.994	D	0.99157	1.0860	9	.	.	.	.	17.8834	0.88848	0.0:0.0:1.0:0.0	.	1088	Q6N022	TEN4_HUMAN	F	1088	ENSP00000278550:L1088F	.	L	-	1	0	ODZ4	78118213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.385000	0.66231	2.438000	0.82558	0.491000	0.48974	CTC	-	TENM4	-	NULL		0.577	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	0	0	0	51	51	100	0.00	0.00	G			78440565	-1	9	13	35	61	tier1	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	20.45	17.57	SNP	1.000	A	9	35
DNTTIP1	116092	genome.wustl.edu	37	20	44439823	44439823	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:44439823C>T	ENST00000372622.3	+	13	1047	c.979C>T	c.(979-981)Cca>Tca	p.P327S	UBE2C_ENST00000356455.4_5'Flank|UBE2C_ENST00000335046.3_5'Flank|UBE2C_ENST00000243893.6_5'Flank|UBE2C_ENST00000352551.5_5'Flank|UBE2C_ENST00000372568.4_5'Flank|UBE2C_ENST00000405520.1_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	327						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TGAAGCACCTCCACAGACCTG	0.562													ENSG00000101457																																					0													98.0	96.0	97.0					20																	44439823		2203	4300	6503	SO:0001583	missense	0			-	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.979C>T	20.37:g.44439823C>T	ENSP00000361705:p.Pro327Ser		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	NULL	p.P327S	ENST00000372622.3	37	c.979	CCDS13369.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.28|11.28	1.592936|1.592936	0.28357|0.28357	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622|ENST00000456939	T|.	0.46451|.	0.87|.	5.78|5.78	0.251|0.251	0.15540|0.15540	.|.	0.247892|.	0.30723|.	N|.	0.009003|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.28618|0.28618	-1.0038|-1.0038	10|5	0.87932|.	D|.	0|.	-0.0177|-0.0177	7.0776|7.0776	0.25213|0.25213	0.0:0.4395:0.4063:0.1543|0.0:0.4395:0.4063:0.1543	.|.	327|.	Q9H147|.	TDIF1_HUMAN|.	S|F	327|277	ENSP00000361705:P327S|.	ENSP00000361705:P327S|.	P|S	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43873230|43873230	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.962000|0.962000	0.63368|0.63368	0.100000|0.100000	0.15231|0.15231	-0.155000|-0.155000	0.11098|0.11098	0.555000|0.555000	0.69702|0.69702	CCA|TCC	-	DNTTIP1	-	NULL		0.562	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	0	0	0	42	42	73	0.00	0.00	C	NM_052951		44439823	+1	15	16	32	64	tier1	no_errors	ENST00000372622	ensembl	human	known	74_37	missense	31.91	20.00	SNP	0.001	T	15	32
DNAH7	56171	genome.wustl.edu	37	2	196740465	196740465	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:196740465C>T	ENST00000312428.6	-	38	6320	c.6220G>A	c.(6220-6222)Gat>Aat	p.D2074N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2074	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTTTTAGATCATACCAGTTC	0.413													ENSG00000118997																																					0													90.0	85.0	86.0					2																	196740465		1882	4109	5991	SO:0001583	missense	0			-	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6220G>A	2.37:g.196740465C>T	ENSP00000311273:p.Asp2074Asn		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.D2074N	ENST00000312428.6	37	c.6220	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042746	0.93685	.	.	ENSG00000118997	ENST00000312428	T	0.51071	0.72	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70547	-0.4842	10	0.48119	T	0.1	.	17.8218	0.88652	0.0:1.0:0.0:0.0	.	2074	Q8WXX0	DYH7_HUMAN	N	2074	ENSP00000311273:D2074N	ENSP00000311273:D2074N	D	-	1	0	DNAH7	196448710	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.361000	0.79497	2.550000	0.86006	0.655000	0.94253	GAT	-	DH7	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.413	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH7	HGNC	protein_coding	OTTHUMT00000335202.3	0	0	0	76	76	97	0.00	0.00	C	NM_018897		196740465	-1	35	25	58	50	tier1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	37.63	32.89	SNP	1.000	T	35	58
SSMEM1	136263	genome.wustl.edu	37	7	129856077	129856077	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:129856077G>A	ENST00000297819.3	+	3	553	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	168						integral component of membrane (GO:0016021)											GAGTGAAAGTGAACACCACCC	0.478													ENSG00000165120																																					0													102.0	102.0	102.0					7																	129856077		2203	4300	6503	SO:0001583	missense	0			-	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.502G>A	7.37:g.129856077G>A	ENSP00000297819:p.Glu168Lys			Missense_Mutation	SNP	NULL	p.E168K	ENST00000297819.3	37	c.502	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960629	0.74016	.	.	ENSG00000165120	ENST00000297819	T	0.54279	0.58	5.71	4.83	0.62350	.	0.271188	0.31834	N	0.006985	T	0.46756	0.1409	M	0.64997	1.995	0.24804	N	0.992686	P	0.35628	0.513	B	0.32533	0.147	T	0.51772	-0.8663	10	0.66056	D	0.02	-15.4819	8.414	0.32659	0.0823:0.1544:0.7633:0.0	.	168	Q8WWF3	CG045_HUMAN	K	168	ENSP00000297819:E168K	ENSP00000297819:E168K	E	+	1	0	C7orf45	129643313	0.998000	0.40836	0.993000	0.49108	0.981000	0.71138	4.973000	0.63763	1.428000	0.47296	0.491000	0.48974	GAA	-	SSMEM1	-	NULL		0.478	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSMEM1	HGNC	protein_coding	OTTHUMT00000349768.1	0	0	0	58	58	115	0.00	0.00	G	NM_145268		129856077	+1	12	12	46	56	tier1	no_errors	ENST00000297819	ensembl	human	known	74_37	missense	20.69	17.65	SNP	0.993	A	12	46
SP140	11262	genome.wustl.edu	37	2	231103666	231103666	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:231103666G>A	ENST00000392045.3	+	3	520				SP140_ENST00000343805.6_Intron|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Intron|SP140_ENST00000373645.3_3'UTR|SP140_ENST00000417495.3_Intron|SP140_ENST00000350136.5_Intron	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein						defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGGAGGCAGGGTGTGAGAGC	0.478													ENSG00000079263																																					0																																										SO:0001627	intron_variant	0			-	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.406+570G>A	2.37:g.231103666G>A			E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	R	SNP	-	NULL	ENST00000392045.3	37	NULL	CCDS42831.1	2																																																																																			-	SP140	-	-		0.478	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	0	0	0	34	34	102	0.00	0.00	G	NM_007237		231103666	+1	18	27	18	44	tier1	no_errors	ENST00000544128	ensembl	human	known	74_37	rna	50.00	38.03	SNP	0.000	A	18	18
OBSCN	84033	genome.wustl.edu	37	1	228476585	228476585	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:228476585G>A	ENST00000422127.1	+	38	10379	c.10335G>A	c.(10333-10335)gtG>gtA	p.V3445V	OBSCN_ENST00000366707.4_Silent_p.V564V|OBSCN_ENST00000359599.6_Silent_p.V2292V|OBSCN_ENST00000366709.4_Silent_p.V564V|OBSCN_ENST00000284548.11_Silent_p.V3445V|OBSCN_ENST00000570156.2_Silent_p.V3874V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3445					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCTCACCGTGAAGGGTAATG	0.612													ENSG00000154358																																					0													86.0	97.0	93.0					1																	228476585		2195	4281	6476	SO:0001819	synonymous_variant	0			-	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10335G>A	1.37:g.228476585G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V3445	ENST00000422127.1	37	c.10335	CCDS58065.1	1																																																																																			-	OBSCN	-	smart_Ig_sub		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		0	0	0	78	78	73	0.00	0.00	G	NM_052843		228476585	+1	14	9	47	52	tier1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	22.95	14.75	SNP	0.106	A	14	47
INMT	11185	genome.wustl.edu	37	7	30793389	30793389	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:30793389C>T	ENST00000013222.5	+	2	213	c.197C>T	c.(196-198)cCt>cTt	p.P66L	INMT_ENST00000409539.1_Missense_Mutation_p.P65L|INMT-FAM188B_ENST00000458257.1_Missense_Mutation_p.P65L|INMT_ENST00000484180.1_3'UTR	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	66					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.P66L(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGCTCAGGTCCTACCATCTAC	0.532													ENSG00000241644																																					1	Substitution - Missense(1)	kidney(1)											277.0	251.0	260.0					7																	30793389		2203	4300	6503	SO:0001583	missense	0			-		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.197C>T	7.37:g.30793389C>T	ENSP00000013222:p.Pro66Leu		B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.P66L	ENST00000013222.5	37	c.197	CCDS5430.1	7	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333822	0.60853	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.18174	2.23;2.23	4.07	2.24	0.28232	.	0.000000	0.64402	D	0.000018	T	0.42154	0.1190	M	0.88775	2.98	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.27905	-1.0060	10	0.87932	D	0	-8.8018	6.7024	0.23232	0.1766:0.7261:0.0:0.0972	.	65;66	B8ZZ69;O95050	.;INMT_HUMAN	L	66;65	ENSP00000013222:P66L;ENSP00000386961:P65L	ENSP00000013222:P66L	P	+	2	0	INMT	30759914	0.980000	0.34600	0.284000	0.24805	0.719000	0.41307	2.542000	0.45744	0.470000	0.27294	-0.136000	0.14681	CCT	-	INMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans		0.532	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INMT	HGNC	protein_coding	OTTHUMT00000214993.3	0	0	0	69	69	110	0.00	0.00	C	NM_006774		30793389	+1	21	38	60	105	tier1	no_errors	ENST00000013222	ensembl	human	known	74_37	missense	25.61	26.57	SNP	0.992	T	21	60
DRD2	1813	genome.wustl.edu	37	11	113295128	113295128	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:113295128G>A	ENST00000362072.3	-	2	590	c.246C>T	c.(244-246)ctC>ctT	p.L82L	DRD2_ENST00000542968.1_Silent_p.L82L|DRD2_ENST00000346454.3_Silent_p.L82L|DRD2_ENST00000538967.1_Silent_p.L82L|DRD2_ENST00000544518.1_Silent_p.L82L|DRD2_ENST00000355319.2_Silent_p.L82L|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	82					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGTGGCGACGAGGAGGTCGG	0.637													ENSG00000149295																																					0													104.0	83.0	90.0					11																	113295128		2201	4296	6497	SO:0001819	synonymous_variant	0			-	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.246C>T	11.37:g.113295128G>A			Q9NZR3|Q9UPA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.L82	ENST00000362072.3	37	c.246	CCDS8361.1	11																																																																																			-	DRD2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.637	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	0	0	0	42	42	52	0.00	0.00	G	NM_000795		113295128	-1	22	15	10	25	tier1	no_errors	ENST00000355319	ensembl	human	known	74_37	silent	68.75	37.50	SNP	0.652	A	22	10
CCNF	899	genome.wustl.edu	37	16	2506454	2506454	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:2506454C>T	ENST00000397066.4	+	17	1973				RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F						mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GTAGAAGATTCTTGACCTGGA	0.582													ENSG00000260874																																					0																																										SO:0001627	intron_variant	0			-	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1886-92C>T	16.37:g.2506454C>T			B2R8H3|Q96EG9	R	SNP	-	NULL	ENST00000397066.4	37	NULL	CCDS10467.1	16																																																																																			-	RP11-715J22.4	-	-		0.582	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260874	Clone_based_vega_gene	protein_coding	OTTHUMT00000250801.1	0	0	0	24	24	121	0.00	0.00	C	NM_001761		2506454	-1	10	45	14	72	tier1	no_errors	ENST00000566085	ensembl	human	known	74_37	rna	41.67	38.46	SNP	0.002	T	10	14
CXorf66	347487	genome.wustl.edu	37	X	139038581	139038581	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:139038581C>T	ENST00000370540.1	-	3	583	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	187						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTTCTAGGCTGCCTTTCTT	0.403													ENSG00000203933																																					0													230.0	206.0	214.0					X																	139038581		2203	4300	6503	SO:0001583	missense	0			-		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.560G>A	X.37:g.139038581C>T	ENSP00000359571:p.Ser187Asn			Missense_Mutation	SNP	NULL	p.S187N	ENST00000370540.1	37	c.560	CCDS35411.1	X	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.841196	0.00573	.	.	ENSG00000203933	ENST00000370540	T	0.50548	0.74	3.84	-3.68	0.04463	.	1.564180	0.03827	N	0.268531	T	0.26085	0.0636	N	0.12746	0.255	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.10154	-1.0642	9	.	.	.	0.0589	6.6284	0.22843	0.0:0.2583:0.1504:0.5913	.	187	Q5JRM2	CX066_HUMAN	N	187	ENSP00000359571:S187N	.	S	-	2	0	CXorf66	138866247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.456000	0.06754	-1.252000	0.02491	-1.067000	0.02272	AGC	-	CXorf66	-	NULL		0.403	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	HGNC	protein_coding	OTTHUMT00000058572.1	0	0	0	47	47	48	0.00	0.00	C	NM_001013403		139038581	-1	22	35	8	22	tier1	no_errors	ENST00000370540	ensembl	human	known	74_37	missense	73.33	61.40	SNP	0.000	T	22	8
FLRT2	23768	genome.wustl.edu	37	14	85995923	85995923	+	5'Flank	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:85995923G>A	ENST00000330753.4	+	0	0				RP11-497E19.1_ENST00000380722.1_lincRNA|FLRT2_ENST00000554746.1_5'Flank	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGGTGAGTGGGAGGCAGCTTT	0.502													ENSG00000205562																																					0																																										SO:0001631	upstream_gene_variant	0			-	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155			14.37:g.85995923G>A	Exception_encountered		A0AV84|B7ZLP3	R	SNP	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			-	RP11-497E19.1	-	-		0.502	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506731	Clone_based_vega_gene	protein_coding	OTTHUMT00000413193.1	0	0	0	28	28	169	0.00	0.00	G			85995923	-1	6	82	4	86	tier1	no_errors	ENST00000380722	ensembl	human	known	74_37	rna	60.00	48.81	SNP	0.411	A	6	4
C1QB	713	genome.wustl.edu	37	1	22987377	22987377	+	Missense_Mutation	SNP	G	G	A	rs3211003		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:22987377G>A	ENST00000314933.6	+	3	392	c.260G>A	c.(259-261)gGa>gAa	p.G87E	C1QB_ENST00000509305.1_Missense_Mutation_p.G85E	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	87	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGAATCCAGGAAAAGTCGGC	0.622													ENSG00000173369																																					0													38.0	43.0	41.0					1																	22987377		2203	4300	6503	SO:0001583	missense	0			-	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.260G>A	1.37:g.22987377G>A	ENSP00000313967:p.Gly87Glu		Q5T959|Q96H17	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G87E	ENST00000314933.6	37	c.260	CCDS228.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926903	0.92319	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	H	0.94462	3.54	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98316	1.0526	10	0.87932	D	0	.	17.6906	0.88268	0.0:0.0:1.0:0.0	rs3211003;rs16827426	87	P02746	C1QB_HUMAN	E	85;85;85;87	ENSP00000426317:G85E;ENSP00000423689:G85E;ENSP00000404606:G85E;ENSP00000313967:G87E	ENSP00000313967:G87E	G	+	2	0	C1QB	22859964	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.623000	0.98386	2.596000	0.87737	0.561000	0.74099	GGA	rs3211003	C1QB	-	pfam_Collagen		0.622	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	HGNC	protein_coding		0	0	0	31	31	78	0.00	0.00	G	NM_000491		22987377	+1	27	38	15	24	tier1	no_errors	ENST00000314933	ensembl	human	known	74_37	missense	64.29	60.32	SNP	1.000	A	27	15
FSIP2	401024	genome.wustl.edu	37	2	186656683	186656683	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:186656683T>G	ENST00000424728.1	+	16	4820	c.4820T>G	c.(4819-4821)aTt>aGt	p.I1607S	FSIP2_ENST00000343098.5_Missense_Mutation_p.I1696S|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1607										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGGGTGCTATTAATGATGGA	0.343													ENSG00000188738																																					0																																										SO:0001583	missense	0			-	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.4820T>G	2.37:g.186656683T>G	ENSP00000401306:p.Ile1607Ser		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.I1696S	ENST00000424728.1	37	c.5087		2	.	.	.	.	.	.	.	.	.	.	t	3.503	-0.101515	0.06967	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.55930	0.49;0.49	4.9	-9.79	0.00494	.	2.641400	0.00969	N	0.003211	T	0.34308	0.0893	L	0.32530	0.975	0.09310	N	1	.	.	.	.	.	.	T	0.23726	-1.0180	8	0.36615	T	0.2	.	2.0844	0.03642	0.3577:0.3318:0.1809:0.1296	.	.	.	.	S	1696;1607;1607	ENSP00000344403:I1696S;ENSP00000401306:I1607S	ENSP00000321903:I1607S	I	+	2	0	FSIP2	186364928	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.442000	0.02407	-3.078000	0.00251	-1.286000	0.01371	ATT	-	FSIP2	-	NULL		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	0	0	0	62	62	138	0.00	0.00	T	NM_173651		186656683	+1	11	14	57	63	tier1	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	16.18	18.18	SNP	0.000	G	11	57
APOBEC3B	9582	genome.wustl.edu	37	22	39380212	39380212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:39380212G>A	ENST00000333467.3	+	2	195	c.150G>A	c.(148-150)tgG>tgA	p.W50*	APOBEC3B_ENST00000402182.3_Nonsense_Mutation_p.W50*|APOBEC3B_ENST00000407298.3_Nonsense_Mutation_p.W50*	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	50					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATCTCCTTTGGGACACAGGGG	0.488													ENSG00000179750																																					0													51.0	55.0	54.0					22																	39380212		2198	4279	6477	SO:0001587	stop_gained	0			-	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.150G>A	22.37:g.39380212G>A	ENSP00000327459:p.Trp50*		B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Nonsense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.W50*	ENST00000333467.3	37	c.150	CCDS13982.1	22	.	.	.	.	.	.	.	.	.	.	.	12.37	1.918909	0.33908	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	.	.	.	2.08	-3.08	0.05347	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	4.8495	0.13530	0.0:0.1561:0.5501:0.2938	.	.	.	.	X	50	.	ENSP00000327459:W50X	W	+	3	0	APOBEC3B	37710158	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.249000	0.01188	-0.727000	0.04888	0.411000	0.27672	TGG	-	APOBEC3B	-	pfam_APOBEC_N		0.488	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	0	0	0	108	108	86	0.00	0.00	G	NM_004900		39380212	+1	22	18	73	70	tier1	no_errors	ENST00000333467	ensembl	human	known	74_37	nonsense	23.16	20.45	SNP	0.000	A	22	73
KMT2B	9757	genome.wustl.edu	37	19	36212555	36212555	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36212555T>C	ENST00000222270.7	+	3	2306	c.2306T>C	c.(2305-2307)aTg>aCg	p.M769T	KMT2B_ENST00000420124.1_Missense_Mutation_p.M769T|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	769	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCACAGCAGATGCCTCCCCTG	0.632													ENSG00000272333																																					0													26.0	35.0	32.0					19																	36212555		2120	4252	6372	SO:0001583	missense	0			-	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2306T>C	19.37:g.36212555T>C	ENSP00000222270:p.Met769Thr		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.M769T	ENST00000222270.7	37	c.2306	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	T	2.458	-0.324840	0.05350	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82081	-1.57;-1.57	4.99	-0.245	0.13027	.	1.240300	0.06175	N	0.678423	T	0.58666	0.2138	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	10	0.10902	T	0.67	.	3.7473	0.08552	0.3044:0.5075:0.0:0.1881	.	769	Q9UMN6	MLL4_HUMAN	T	769	ENSP00000222270:M769T;ENSP00000398837:M769T	ENSP00000222270:M769T	M	+	2	0	AD000671.1	40904395	0.000000	0.05858	0.011000	0.14972	0.311000	0.27955	-0.462000	0.06704	-0.092000	0.12417	0.443000	0.29094	ATG	-	KMT2B	-	pirsf_MeTrfase_trithorax		0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		0	0	0	181	181	32	0.00	0.00	T	NM_014727		36212555	+1	72	10	72	16	tier1	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	50.00	38.46	SNP	0.002	C	72	72
ITGAV	3685	genome.wustl.edu	37	2	187523819	187523819	+	Missense_Mutation	SNP	C	C	T	rs200949549		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:187523819C>T	ENST00000261023.3	+	18	2048	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.R556W|ITGAV_ENST00000433736.2_Missense_Mutation_p.R546W	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	592					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TATGGAATATCGGTTGGATTA	0.368													ENSG00000138448	C|||	1	0.000199681	0.0008	0.0	5008	,	,		16295	0.0		0.0	False		,,,				2504	0.0				Melanoma(58;108 1995 6081)												0													101.0	100.0	100.0					2																	187523819		2203	4300	6503	SO:0001583	missense	0			-		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1774C>T	2.37:g.187523819C>T	ENSP00000261023:p.Arg592Trp		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R592W	ENST00000261023.3	37	c.1774	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032038	0.35893	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.46451	0.87;0.87;0.87	6.07	1.1	0.20463	Integrin alpha-2 (1);	0.746850	0.13319	N	0.396837	T	0.30135	0.0755	L	0.29908	0.895	0.26108	N	0.980723	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.08055	0.003;0.002;0.003	T	0.20806	-1.0264	10	0.54805	T	0.06	.	10.3236	0.43780	0.0:0.6914:0.0932:0.2155	.	546;556;592	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	W	592;556;546	ENSP00000261023:R592W;ENSP00000364042:R556W;ENSP00000404291:R546W	ENSP00000261023:R592W	R	+	1	2	ITGAV	187232064	0.993000	0.37304	0.961000	0.40146	0.908000	0.53690	1.303000	0.33470	-0.048000	0.13401	-1.761000	0.00669	CGG	rs200949549	ITGAV	-	pfam_Integrin_alpha-2,prints_Integrin_alpha		0.368	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	0	0	0	47	47	129	0.00	0.00	C	NM_002210		187523819	+1	19	12	44	93	tier1	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	30.16	11.43	SNP	0.535	T	19	44
INTS8	55656	genome.wustl.edu	37	8	95840008	95840008	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:95840008C>T	ENST00000523731.1	+	4	638	c.505C>T	c.(505-507)Cct>Tct	p.P169S	INTS8_ENST00000447247.1_Missense_Mutation_p.P169S	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	169					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACCCGGACCCCCTCAGTTAAG	0.348													ENSG00000164941																																					0													127.0	130.0	129.0					8																	95840008		2203	4300	6503	SO:0001583	missense	0			-	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.505C>T	8.37:g.95840008C>T	ENSP00000430338:p.Pro169Ser		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.P169S	ENST00000523731.1	37	c.505	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.12|17.12	3.308303|3.308303	0.60305|0.60305	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000521860|ENST00000522171;ENST00000519457;ENST00000519053;ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.9|5.9	5.0|5.0	0.66597|0.66597	.|.	0.097549|0.097549	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.45796|0.45796	0.1360|0.1360	L|L	0.29908|0.29908	0.895|0.895	0.43137|0.43137	D|D	0.994884|0.994884	.|B;B	.|0.28933	.|0.228;0.228	.|B;B	.|0.30855	.|0.121;0.121	T|T	0.32877|0.32877	-0.9890|-0.9890	7|9	0.38643|0.13108	T|T	0.18|0.6	-14.8658|-14.8658	16.5197|16.5197	0.84310|0.84310	0.1312:0.8688:0.0:0.0|0.1312:0.8688:0.0:0.0	.|.	.|169;169	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	L|S	156|128;122;60;169;169	.|.	ENSP00000430049:P156L|ENSP00000343274:P169S	P|P	+|+	2|1	0|0	INTS8|INTS8	95909184|95909184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.625000|5.625000	0.67770|0.67770	2.786000|2.786000	0.95864|0.95864	0.563000|0.563000	0.77884|0.77884	CCC|CCT	-	INTS8	-	NULL		0.348	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	0	0	0	134	134	151	0.00	0.00	C	NM_017864		95840008	+1	53	58	157	101	tier1	no_errors	ENST00000523731	ensembl	human	known	74_37	missense	25.24	36.25	SNP	1.000	T	53	157
TPTE	7179	genome.wustl.edu	37	21	11029674	11029674	+	5'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:11029674G>A	ENST00000415664.2	-	0	45				BAGE2_ENST00000470054.1_RNA			P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTCTGGGGACCACGAGGG	0.433													ENSG00000166157																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.-3291C>T	21.37:g.11029674G>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	R	SNP	-	NULL	ENST00000415664.2	37	NULL		21																																																																																			-	TPTE	-	-		0.433	TPTE-006	KNOWN	basic	processed_transcript	TPTE	HGNC	protein_coding	OTTHUMT00000340030.1	0	0	0	400	400	42	0.00	0.00	G			11029674	-1	91	10	300	43	tier1	no_errors	ENST00000415664	ensembl	human	known	74_37	rna	23.27	18.52	SNP	1.000	A	91	300
PAPLN	89932	genome.wustl.edu	37	14	73727967	73727967	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:73727967C>T	ENST00000554301.1	+	17	2373	c.2210C>T	c.(2209-2211)cCt>cTt	p.P737L	PAPLN_ENST00000340738.5_Missense_Mutation_p.P710L|PAPLN_ENST00000555445.1_Missense_Mutation_p.P737L|PAPLN_ENST00000381166.3_Missense_Mutation_p.P737L|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000427855.1_Missense_Mutation_p.P737L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	737						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.P710L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGCCGGTCCTCTTGGGGAA	0.642													ENSG00000100767																																					1	Substitution - Missense(1)	skin(1)											44.0	42.0	43.0					14																	73727967		2203	4300	6503	SO:0001583	missense	0			-	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2210C>T	14.37:g.73727967C>T	ENSP00000451803:p.Pro737Leu		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.P737L	ENST00000554301.1	37	c.2210		14	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198312	0.58126	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.66099	-0.19;-0.18;0.12;-0.18;-0.12	4.75	4.75	0.60458	.	.	.	.	.	T	0.80864	0.4705	M	0.83774	2.66	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.993	T	0.82335	-0.0508	9	0.46703	T	0.11	.	17.9417	0.89027	0.0:1.0:0.0:0.0	.	737;737;710	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	L	710;737;737;737;737	ENSP00000345395:P710L;ENSP00000403403:P737L;ENSP00000370558:P737L;ENSP00000451803:P737L;ENSP00000451729:P737L	ENSP00000216658:P737L	P	+	2	0	PAPLN	72797720	0.998000	0.40836	0.092000	0.20876	0.118000	0.20060	6.695000	0.74593	2.450000	0.82876	0.462000	0.41574	CCT	-	PAPLN	-	NULL		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	0	0	0	32	32	54	0.00	0.00	C	NM_173462		73727967	+1	12	13	8	17	tier1	no_errors	ENST00000427855	ensembl	human	known	74_37	missense	60.00	43.33	SNP	0.995	T	12	8
CELA2A	63036	genome.wustl.edu	37	1	15788055	15788055	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:15788055G>A	ENST00000359621.4	+	3	154		c.e3-1			NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A							extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTTCTCCCCAGGTCTCCCTGC	0.602													ENSG00000142615																																					0													95.0	84.0	88.0					1																	15788055		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.130-1G>A	1.37:g.15788055G>A			B2R5I4|Q14243	Splice_Site	SNP	-	e3-1	ENST00000359621.4	37	c.130-1	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374946	0.24857	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9882	0.71365	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CELA2A	15660642	1.000000	0.71417	0.991000	0.47740	0.031000	0.12232	8.994000	0.93529	1.848000	0.53677	0.306000	0.20318	.	-	CELA2A	-	-		0.602	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	0	0	0	51	51	51	0.00	0.00	G	NM_033440	Intron	15788055	+1	13	4	71	33	tier1	no_errors	ENST00000359621	ensembl	human	known	74_37	splice_site	15.48	10.81	SNP	1.000	A	13	71
CR1	1378	genome.wustl.edu	37	1	207787831	207787831	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:207787831G>A	ENST00000367049.4	+	40	6658	c.6658G>A	c.(6658-6660)Gaa>Aaa	p.E2220K	CR1_ENST00000400960.2_Missense_Mutation_p.E1770K|CR1_ENST00000367052.1_Missense_Mutation_p.E1770K|CR1_ENST00000367053.1_Missense_Mutation_p.E1770K|CR1_ENST00000367051.1_Missense_Mutation_p.E1770K	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.E2220*(6)|p.E1775*(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTGTGTGAACGTGAGTA	0.408													ENSG00000203710																																					12	Substitution - Nonsense(12)	kidney(8)|endometrium(4)											131.0	122.0	125.0					1																	207787831		1887	4127	6014	SO:0001583	missense	0			-	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6658G>A	1.37:g.207787831G>A	ENSP00000356016:p.Glu2220Lys		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E2220K	ENST00000367049.4	37	c.6658	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106617	0.77096	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.29	4.29	0.51040	Complement control module (2);Sushi/SCR/CCP (1);	.	.	.	.	T	0.42063	0.1186	M	0.62088	1.915	0.26472	N	0.975259	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.985	T	0.29150	-1.0021	9	0.06236	T	0.91	.	12.9543	0.58418	0.0:0.0:1.0:0.0	.	1770;2220	P17927;E9PDY4	CR1_HUMAN;.	K	1770;1770;1770;1770;2220	ENSP00000356019:E1770K;ENSP00000356018:E1770K;ENSP00000356020:E1770K;ENSP00000383744:E1770K;ENSP00000356016:E2220K	ENSP00000356016:E2220K	E	+	1	0	CR1	205854454	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	2.536000	0.45693	2.316000	0.78162	0.436000	0.28706	GAA	-	CR1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	0	0	0	270	270	83	0.00	0.00	G	NM_000573		207787831	+1	52	11	186	50	tier1	no_errors	ENST00000367049	ensembl	human	known	74_37	missense	21.85	18.03	SNP	1.000	A	52	186
TSIX	9383	genome.wustl.edu	37	X	73046088	73046088	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:73046088C>T	ENST00000604411.1	+	0	34049				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		ACTTTTTTTTCCCCAACAACC	0.428													ENSG00000229807																																					0													118.0	117.0	117.0					X																	73046088		876	1991	2867			0			-			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73046088C>T				R	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			-	XIST	-	-		0.428	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	0	0	0	41	41	49	0.00	0.00	C	NR_003255		73046088	-1	24	35	8	14	tier1	no_errors	ENST00000416330	ensembl	human	known	74_37	rna	75.00	70.00	SNP	0.000	T	24	8
C1orf87	127795	genome.wustl.edu	37	1	60505853	60505853	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:60505853C>T	ENST00000371201.3	-	5	591		c.e5-1		C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87								calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCAATATCCTAACACAACA	0.468													ENSG00000162598																									NSCLC(75;811 1386 4923 13371 51772)												0													63.0	67.0	66.0					1																	60505853		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.484-1G>A	1.37:g.60505853C>T			Q6ZU07|Q8IVS0	Splice_Site	SNP	-	e4-1	ENST00000371201.3	37	c.484-1	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385428	0.25031	.	.	ENSG00000162598	ENST00000371201	.	.	.	4.44	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.28041	N	0.933754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3437	0.55109	0.0:0.8287:0.1713:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf87	60278441	0.357000	0.24938	0.091000	0.20842	0.068000	0.16541	1.636000	0.37144	1.450000	0.47717	0.650000	0.86243	.	-	C1orf87	-	-		0.468	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1	0	0	0	50	50	108	0.00	0.00	C	NM_152377	Intron	60505853	-1	21	22	61	96	tier1	no_errors	ENST00000371201	ensembl	human	known	74_37	splice_site	25.61	18.64	SNP	0.126	T	21	61
ZFHX2	85446	genome.wustl.edu	37	14	23991827	23991827	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:23991827C>T	ENST00000419474.3	-	10	7418	c.7063G>A	c.(7063-7065)Gga>Aga	p.G2355R	ZFHX2_ENST00000606808.1_5'Flank|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	2355	Pro-rich.				adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GGTGCTGTTCCCCCAGCAGGG	0.577													ENSG00000136367																																					0																																										SO:0001583	missense	0			-	AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.7063G>A	14.37:g.23991827C>T	ENSP00000413418:p.Gly2355Arg		Q9UPU6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G2355R	ENST00000419474.3	37	c.7063	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252389	0.59212	.	.	ENSG00000136367	ENST00000419474	T	0.78246	-1.16	5.0	5.0	0.66597	.	0.150900	0.30879	N	0.008699	T	0.76695	0.4023	L	0.54323	1.7	0.35273	D	0.780601	P	0.35033	0.481	B	0.39617	0.305	D	0.83427	0.0036	10	0.54805	T	0.06	.	15.3217	0.74126	0.0:1.0:0.0:0.0	.	2355	Q9C0A1	ZFHX2_HUMAN	R	2355	ENSP00000413418:G2355R	ENSP00000413418:G2355R	G	-	1	0	ZFHX2	23061667	0.012000	0.17670	0.967000	0.41034	0.719000	0.41307	2.390000	0.44416	2.604000	0.88044	0.511000	0.50034	GGA	-	ZFHX2	-	NULL		0.577	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	0	0	0	45	45	27	0.00	0.00	C	NM_014894		23991827	-1	12	10	19	29	tier1	no_errors	ENST00000419474	ensembl	human	known	74_37	missense	38.71	25.64	SNP	0.999	T	12	19
GIMAP6	474344	genome.wustl.edu	37	7	150327158	150327158	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:150327158C>T	ENST00000328902.5	-	2	289	c.73G>A	c.(73-75)Gag>Aag	p.E25K	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E25K	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	25						cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGACAGCTCCAGCACAGGA	0.468													ENSG00000133561																																					0													187.0	188.0	188.0					7																	150327158		2203	4300	6503	SO:0001583	missense	0			-	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.73G>A	7.37:g.150327158C>T	ENSP00000330374:p.Glu25Lys		C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.E25K	ENST00000328902.5	37	c.73	CCDS34778.1	7	.	.	.	.	.	.	.	.	.	.	c	7.012	0.556899	0.13436	.	.	ENSG00000133561	ENST00000328902;ENST00000477013;ENST00000493969	T	0.06528	3.29	3.04	-1.33	0.09172	.	.	.	.	.	T	0.03651	0.0104	N	0.24115	0.695	0.09310	N	1	B	0.19706	0.038	B	0.16722	0.016	T	0.46205	-0.9208	9	0.23302	T	0.38	.	3.8285	0.08864	0.0:0.3257:0.396:0.2783	.	25	Q6P9H5	GIMA6_HUMAN	K	25	ENSP00000330374:E25K	ENSP00000330374:E25K	E	-	1	0	GIMAP6	149958091	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.011000	0.13264	-0.291000	0.09012	-0.313000	0.08912	GAG	-	GIMAP6	-	superfamily_P-loop_NTPase		0.468	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP6	HGNC	protein_coding	OTTHUMT00000353457.1	0	0	1	45	45	56	0.00	1.75	C	NM_024711		150327158	-1	9	23	27	42	tier1	no_errors	ENST00000328902	ensembl	human	known	74_37	missense	25.00	34.85	SNP	0.000	T	9	27
SLC25A12	8604	genome.wustl.edu	37	2	172644335	172644335	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:172644335C>T	ENST00000422440.2	-	16	1745	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	SLC25A12_ENST00000392592.4_Missense_Mutation_p.E463K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	570					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GGCCCTTCTTCCCGGAGAATC	0.582													ENSG00000115840																																					0													71.0	71.0	71.0					2																	172644335		2203	4300	6503	SO:0001583	missense	0			-	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1708G>A	2.37:g.172644335C>T	ENSP00000388658:p.Glu570Lys		B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E570K	ENST00000422440.2	37	c.1708	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.904777	0.97087	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79845	-1.31;-1.31	5.24	5.24	0.73138	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.28400	0.85	0.80722	D	1	D;D	0.63046	0.971;0.992	P;D	0.67900	0.902;0.954	D	0.85965	0.1473	10	0.62326	D	0.03	-17.5988	19.1982	0.93698	0.0:1.0:0.0:0.0	.	463;570	B3KR64;O75746	.;CMC1_HUMAN	K	570;463	ENSP00000388658:E570K;ENSP00000376371:E463K	ENSP00000376371:E463K	E	-	1	0	SLC25A12	172352581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.613000	0.88420	0.650000	0.86243	GAA	-	SLC25A12	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.582	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	0	0	0	40	40	103	0.00	0.00	C	NM_003705		172644335	-1	13	10	40	58	tier1	no_errors	ENST00000422440	ensembl	human	known	74_37	missense	24.53	14.71	SNP	1.000	T	13	40
RAB38	23682	genome.wustl.edu	37	11	87908394	87908394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:87908394C>T	ENST00000243662.6	-	1	241	c.159G>A	c.(157-159)tgG>tgA	p.W53*	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	53					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTCCGGGTCCCAGTGGAGCA	0.642													ENSG00000123892																																					0													67.0	50.0	56.0					11																	87908394		2201	4299	6500	SO:0001587	stop_gained	0			-	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.159G>A	11.37:g.87908394C>T	ENSP00000243662:p.Trp53*		Q53XK7	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W53*	ENST00000243662.6	37	c.159	CCDS8281.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.247030|5.247030	0.95305|0.95305	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000531138|ENST00000243662	.|.	.|.	.|.	5.2|5.2	4.28|4.28	0.50868|0.50868	.|.	.|0.128915	.|0.56097	.|D	.|0.000021	T|.	0.70631|.	0.3246|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75045|.	-0.3456|.	3|.	.|.	.|.	.|.	-17.4165|-17.4165	15.9033|15.9033	0.79400|0.79400	0.0:0.8646:0.1354:0.0|0.0:0.8646:0.1354:0.0	.|.	.|.	.|.	.|.	R|X	70|53	.|.	.|.	G|W	-|-	1|3	0|0	RAB38|RAB38	87548042|87548042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.592000|0.592000	0.36648|0.36648	5.762000|5.762000	0.68809|0.68809	1.394000|1.394000	0.46624|0.46624	-0.176000|-0.176000	0.13171|0.13171	GGA|TGG	-	RAB38	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.642	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB38	HGNC	protein_coding	OTTHUMT00000394015.2	0	0	0	96	96	34	0.00	0.00	C			87908394	-1	55	10	56	15	tier1	no_errors	ENST00000243662	ensembl	human	known	74_37	nonsense	49.55	40.00	SNP	1.000	T	55	56
NEUROD1	4760	genome.wustl.edu	37	2	182543168	182543168	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:182543168G>A	ENST00000295108.3	-	2	877	c.420C>T	c.(418-420)atC>atT	p.I140I	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	140	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGAGTCTCGATTTTGGACA	0.582													ENSG00000162992																																					0													76.0	74.0	75.0					2																	182543168		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.420C>T	2.37:g.182543168G>A			B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.I140	ENST00000295108.3	37	c.420	CCDS2283.1	2																																																																																			-	NEUROD1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom		0.582	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	0	0	0	63	63	54	0.00	0.00	G	NM_002500		182543168	-1	24	20	35	28	tier1	no_errors	ENST00000295108	ensembl	human	known	74_37	silent	40.68	41.67	SNP	0.998	A	24	35
TMED2	10959	genome.wustl.edu	37	12	124069230	124069230	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:124069230C>T	ENST00000262225.3	+	1	153	c.47C>T	c.(46-48)gCc>gTc	p.A16V	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	16	Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		GCTCTCCTGGCCACGGTCTCG	0.642													ENSG00000086598																																					0													49.0	44.0	46.0					12																	124069230		2203	4300	6503	SO:0001583	missense	0			-	X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.47C>T	12.37:g.124069230C>T	ENSP00000262225:p.Ala16Val			Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.A16V	ENST00000262225.3	37	c.47	CCDS9250.1	12	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899763	0.52227	.	.	ENSG00000086598	ENST00000262225;ENST00000438031;ENST00000432022;ENST00000541504	T;T	0.46819	2.16;0.86	4.25	4.25	0.50352	.	0.127004	0.51477	D	0.000082	T	0.37892	0.1020	L	0.39397	1.21	0.80722	D	1	B	0.23058	0.079	B	0.19391	0.025	T	0.16778	-1.0391	10	0.25106	T	0.35	-1.867	13.4585	0.61212	0.0:0.8415:0.1585:0.0	.	16	Q15363	TMED2_HUMAN	V	16	ENSP00000262225:A16V;ENSP00000405845:A16V	ENSP00000262225:A16V	A	+	2	0	TMED2	122635183	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.903000	0.48711	2.350000	0.79820	0.591000	0.81541	GCC	-	TMED2	-	NULL		0.642	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED2	HGNC	protein_coding	OTTHUMT00000400606.1	0	0	0	96	96	38	0.00	0.00	C	NM_006815		124069230	+1	14	6	69	30	tier1	no_errors	ENST00000262225	ensembl	human	known	74_37	missense	16.87	16.67	SNP	1.000	T	14	69
KIAA1109	84162	genome.wustl.edu	37	4	123274193	123274193	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:123274193C>T	ENST00000264501.4	+	81	14357	c.13984C>T	c.(13984-13986)Cat>Tat	p.H4662Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H4662Y			Q2LD37	K1109_HUMAN	KIAA1109	4662					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACATGGAAATCATATGACACT	0.373													ENSG00000138688																																					0													150.0	136.0	140.0					4																	123274193		1888	4112	6000	SO:0001583	missense	0			-	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13984C>T	4.37:g.123274193C>T	ENSP00000264501:p.His4662Tyr		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.H4662Y	ENST00000264501.4	37	c.13984	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755702	0.89843	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.44482	0.92;0.92;0.92	5.86	5.86	0.93980	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.79108	0.979;0.992	T	0.60485	-0.7254	10	0.72032	D	0.01	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	4661;4662	Q2LD37-4;Q2LD37	.;K1109_HUMAN	Y	4662;4662;1331;263	ENSP00000264501:H4662Y;ENSP00000373390:H4662Y;ENSP00000410874:H1331Y	ENSP00000264501:H4662Y	H	+	1	0	KIAA1109	123493643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.776000	0.95493	0.650000	0.86243	CAT	-	KIAA1109	-	pfam_Fragile_site-assoc_C		0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	0	0	0	108	108	121	0.00	0.00	C	NM_020797		123274193	+1	41	53	17	49	tier1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	70.69	51.96	SNP	1.000	T	41	17
STAG1	10274	genome.wustl.edu	37	3	136240115	136240115	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:136240115G>A	ENST00000383202.2	-	7	872	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Missense_Mutation_p.L206F|STAG1_ENST00000236698.5_Missense_Mutation_p.L206F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	206					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCCGTCAAAAGGGAGATTACT	0.358													ENSG00000118007																																					0													105.0	94.0	98.0					3																	136240115		2203	4300	6503	SO:0001583	missense	0			-	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.616C>T	3.37:g.136240115G>A	ENSP00000372689:p.Leu206Phe		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.L206F	ENST00000383202.2	37	c.616	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692387	0.88735	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T;T	0.49139	0.79;0.79;0.8	5.77	5.77	0.91146	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.70903	2.155	0.80722	D	1	D;P;D;D	0.89917	1.0;0.725;1.0;1.0	D;P;D;D	0.85130	0.997;0.781;0.994;0.997	T	0.65483	-0.6157	10	0.36615	T	0.2	.	19.9828	0.97334	0.0:0.0:1.0:0.0	.	223;206;206;206	Q4LE48;C9JJQ0;Q6P275;Q8WVM7	.;.;.;STAG1_HUMAN	F	206	ENSP00000372689:L206F;ENSP00000236698:L206F;ENSP00000420789:L206F	ENSP00000236698:L206F	L	-	1	0	STAG1	137722805	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.062000	0.89475	2.718000	0.92993	0.460000	0.39030	CTT	-	STAG1	-	pfam_STAG,superfamily_ARM-type_fold		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	0	0	1	109	109	106	0.00	0.93	G	NM_005862		136240115	-1	55	50	71	70	tier1	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	43.65	41.67	SNP	1.000	A	55	71
FITM2	128486	genome.wustl.edu	37	20	42935415	42935415	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:42935415G>A	ENST00000396825.3	-	2	659	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	213					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						ACAAGTTGTGGAAATAAACAG	0.522													ENSG00000197296																																					0													92.0	78.0	83.0					20																	42935415		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.639C>T	20.37:g.42935415G>A			A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Silent	SNP	pfam_FIT	p.F213	ENST00000396825.3	37	c.639	CCDS33473.1	20																																																																																			-	FITM2	-	pfam_FIT		0.522	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM2	HGNC	protein_coding	OTTHUMT00000079342.2	0	0	0	73	73	160	0.00	0.00	G	XM_371399		42935415	-1	49	68	57	98	tier1	no_errors	ENST00000396825	ensembl	human	known	74_37	silent	46.23	40.72	SNP	1.000	A	49	57
ADCK1	57143	genome.wustl.edu	37	14	78392116	78392116	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:78392116G>A	ENST00000238561.5	+	9	1117	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.E272K	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	347	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GATGCTCACGGAAGAATTCCG	0.577													ENSG00000063761																																					0													62.0	63.0	63.0					14																	78392116		2203	4300	6503	SO:0001583	missense	0			-	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1018G>A	14.37:g.78392116G>A	ENSP00000238561:p.Glu340Lys		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.E340K	ENST00000238561.5	37	c.1018	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393744	0.42410	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.34859	1.34;1.34	5.26	5.26	0.73747	Protein kinase-like domain (1);	0.269999	0.41396	D	0.000893	T	0.33000	0.0848	L	0.41492	1.28	0.47584	D	0.999464	B;B;B	0.25206	0.014;0.019;0.12	B;B;B	0.28305	0.017;0.019;0.088	T	0.09885	-1.0654	10	0.13853	T	0.58	-17.5678	18.8748	0.92331	0.0:0.0:1.0:0.0	.	347;272;340	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	K	340;272	ENSP00000238561:E340K;ENSP00000339663:E272K	ENSP00000238561:E340K	E	+	1	0	ADCK1	77461869	1.000000	0.71417	0.370000	0.25965	0.320000	0.28249	5.484000	0.66844	2.461000	0.83175	0.643000	0.83706	GAA	-	ADCK1	-	superfamily_Kinase-like_dom		0.577	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	0	0	0	81	81	84	0.00	0.00	G	NM_020421		78392116	+1	7	7	61	49	tier1	no_errors	ENST00000238561	ensembl	human	known	74_37	missense	10.29	12.50	SNP	0.766	A	7	61
ZNF180	7733	genome.wustl.edu	37	19	44980972	44980972	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:44980972G>A	ENST00000221327.4	-	5	2007	c.1726C>T	c.(1726-1728)Ccg>Tcg	p.P576S	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.P551S|ZNF180_ENST00000592529.1_Missense_Mutation_p.P549S|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CATTCATACGGTTTTTCCCCA	0.408													ENSG00000167384																									Esophageal Squamous(180;1353 2003 32862 46574 49854)												0													103.0	104.0	104.0					19																	44980972		2203	4300	6503	SO:0001583	missense	0			-	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1726C>T	19.37:g.44980972G>A	ENSP00000221327:p.Pro576Ser		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P576S	ENST00000221327.4	37	c.1726	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087887	0.76642	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.55930	0.49;0.49	5.66	5.66	0.87406	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41823	D	0.000812	T	0.74435	0.3716	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75482	-0.3302	10	0.54805	T	0.06	-14.9646	18.5038	0.90890	0.0:0.0:1.0:0.0	.	551;575;576	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	576;551	ENSP00000221327:P576S;ENSP00000375818:P551S	ENSP00000221327:P576S	P	-	1	0	ZNF180	49672812	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	6.104000	0.71498	2.673000	0.90976	0.591000	0.81541	CCG	-	ZNF180	-	pfscan_Znf_C2H2		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	0	0	0	75	75	99	0.00	0.00	G	NM_013256		44980972	-1	34	51	31	49	tier1	no_errors	ENST00000221327	ensembl	human	known	74_37	missense	52.31	51.00	SNP	1.000	A	34	31
LRRN2	10446	genome.wustl.edu	37	1	204587480	204587480	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:204587480G>A	ENST00000367175.1	-	1	3853	c.1641C>T	c.(1639-1641)acC>acT	p.T547T	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.T547T|LRRN2_ENST00000367176.3_Silent_p.T547T|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	547					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGTTGGGTGGGGTGACCCAAG	0.677													ENSG00000170382																																					0													94.0	91.0	92.0					1																	204587480		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1641C>T	1.37:g.204587480G>A			B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T547	ENST00000367175.1	37	c.1641	CCDS1448.1	1																																																																																			-	LRRN2	-	superfamily_Fibronectin_type3		0.677	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	0	0	0	51	51	83	0.00	0.00	G	NM_006338		204587480	-1	12	11	31	40	tier1	no_errors	ENST00000367175	ensembl	human	known	74_37	silent	27.91	21.57	SNP	0.038	A	12	31
TEKT1	83659	genome.wustl.edu	37	17	6719281	6719281	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:6719281C>T	ENST00000338694.2	-	4	486	c.357G>A	c.(355-357)agG>agA	p.R119R	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	119						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TGCGCTTCTCCCTGGCAGGGG	0.537													ENSG00000167858																																					0													110.0	69.0	83.0					17																	6719281		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.357-1G>A	17.37:g.6719281C>T			D3DTM7	Missense_Mutation	SNP	pfam_Tektin	p.G64E	ENST00000338694.2	37	c.191	CCDS11083.1	17																																																																																			-	TEKT1	-	pfam_Tektin		0.537	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	0	0	0	27	27	64	0.00	0.00	C	NM_053285	Silent	6719281	-1	14	25	16	21	tier1	no_errors	ENST00000575592	ensembl	human	known	74_37	missense	46.67	54.35	SNP	1.000	T	14	16
LYRM1	57149	genome.wustl.edu	37	16	20935434	20935434	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:20935434C>T	ENST00000396052.2	+	6	765	c.365C>T	c.(364-366)tCc>tTc	p.S122F	LYRM1_ENST00000412082.2_Missense_Mutation_p.S33F|LYRM1_ENST00000562740.1_Missense_Mutation_p.S33F|LYRM1_ENST00000567954.1_Missense_Mutation_p.S122F|LYRM1_ENST00000219168.4_Missense_Mutation_p.S122F|LYRM1_ENST00000439021.1_Missense_Mutation_p.S122F|LYRM1_ENST00000569023.1_Missense_Mutation_p.S122F|LYRM1_ENST00000568663.1_Missense_Mutation_p.S122F			O43325	LYRM1_HUMAN	LYR motif containing 1	122						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|prostate(1)	2						GATGAAGTTTCCTAATCTAGA	0.418													ENSG00000102897																																					0													42.0	42.0	42.0					16																	20935434		2201	4300	6501	SO:0001583	missense	0			-		CCDS10593.1	16p12.2	2008-02-05			ENSG00000102897	ENSG00000102897		"""LYR motif containing"""	25074	protein-coding gene	gene with protein product		614709				10493829	Standard	NM_020424		Approved	A211C6.1	uc010bwl.3	O43325	OTTHUMG00000131554	ENST00000396052.2:c.365C>T	16.37:g.20935434C>T	ENSP00000379367:p.Ser122Phe		B2R4M5	Missense_Mutation	SNP	pfam_Complex1_LYR	p.S122F	ENST00000396052.2	37	c.365	CCDS10593.1	16	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976869	0.53720	.	.	ENSG00000102897	ENST00000439021;ENST00000219168;ENST00000412082;ENST00000396052	.	.	.	5.85	3.88	0.44766	.	0.085474	0.51477	D	0.000100	T	0.54951	0.1890	L	0.60455	1.87	0.46222	D	0.998936	P	0.44627	0.839	B	0.41723	0.365	T	0.62923	-0.6751	9	0.87932	D	0	-10.2682	12.9994	0.58666	0.0:0.8675:0.0:0.1325	.	122	O43325	LYRM1_HUMAN	F	122	.	ENSP00000219168:S122F	S	+	2	0	LYRM1	20842935	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.115000	0.50391	1.477000	0.48234	0.655000	0.94253	TCC	-	LYRM1	-	NULL		0.418	LYRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYRM1	HGNC	protein_coding	OTTHUMT00000254416.1	0	0	0	69	69	121	0.00	0.00	C	NM_020424		20935434	+1	31	33	30	73	tier1	no_errors	ENST00000219168	ensembl	human	known	74_37	missense	50.82	30.84	SNP	1.000	T	31	30
KCNQ5	56479	genome.wustl.edu	37	6	73751664	73751664	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:73751664C>T	ENST00000370398.1	+	3	604	c.495C>T	c.(493-495)ttC>ttT	p.F165F	KCNQ5_ENST00000355635.3_Silent_p.F165F|KCNQ5_ENST00000403813.2_Silent_p.F165F|KCNQ5_ENST00000342056.2_Silent_p.F165F|KCNQ5_ENST00000355194.4_Silent_p.F165F|KCNQ5_ENST00000414165.2_Silent_p.F165F|KCNQ5_ENST00000402622.2_Silent_p.F165F|KCNQ5_ENST00000370392.1_Silent_p.F165F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	165					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.F165F(3)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTAGGAGTTCGTGATGATTG	0.413													ENSG00000185760																									GBM(142;1375 1859 14391 23261 44706)												3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)											349.0	318.0	329.0					6																	73751664		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.495C>T	6.37:g.73751664C>T			A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F165	ENST00000370398.1	37	c.495	CCDS4976.1	6																																																																																			-	KCNQ5	-	pfam_Ion_trans_dom,prints_K_chnl		0.413	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	0	0	0	79	79	129	0.00	0.00	C	NM_019842		73751664	+1	35	35	35	75	tier1	no_errors	ENST00000402622	ensembl	human	known	74_37	silent	50.00	31.82	SNP	0.998	T	35	35
KCNJ6	3763	genome.wustl.edu	37	21	39086812	39086812	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:39086812C>T	ENST00000609713.1	-	3	1237	c.648G>A	c.(646-648)ggG>ggA	p.G216G	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Silent_p.G216G	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	216					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GGCACAGTTTCCCATCCCGCA	0.507													ENSG00000157542																									Pancreas(48;379 1118 2936 19024 28214)												0													66.0	64.0	65.0					21																	39086812		1933	4162	6095	SO:0001819	synonymous_variant	0			-	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.648G>A	21.37:g.39086812C>T			Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.G216	ENST00000609713.1	37	c.648	CCDS42927.1	21																																																																																			-	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.507	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	0	0	0	68	68	179	0.00	0.00	C	NM_002240		39086812	-1	11	48	43	81	tier1	no_errors	ENST00000288309	ensembl	human	known	74_37	silent	20.37	37.21	SNP	1.000	T	11	43
OGDHL	55753	genome.wustl.edu	37	10	50944095	50944095	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:50944095G>A	ENST00000374103.4	-	22	2968	c.2883C>T	c.(2881-2883)acC>acT	p.T961T	OGDHL_ENST00000432695.1_Silent_p.T752T|OGDHL_ENST00000419399.1_Silent_p.T904T|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	961					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCTCAGGATGGTCATGAAGC	0.612													ENSG00000197444																																					0													88.0	76.0	80.0					10																	50944095		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2883C>T	10.37:g.50944095G>A			A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.T961	ENST00000374103.4	37	c.2883	CCDS7234.1	10																																																																																			-	OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.612	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	0	0	0	20	20	65	0.00	0.00	G	NM_018245		50944095	-1	11	31	9	16	tier1	no_errors	ENST00000374103	ensembl	human	known	74_37	silent	55.00	65.96	SNP	0.451	A	11	9
ADCY10P1	221442	genome.wustl.edu	37	6	41095319	41095319	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:41095319C>T	ENST00000567255.1	+	0	3389					NR_026938.2				adenylate cyclase 10 (soluble) pseudogene 1																		ATCCAGAACTCAGGAGGCCTT	0.418													ENSG00000161912																																					0																																												0			-			6p21.1	2012-07-04			ENSG00000161912	ENSG00000161912			44143	pseudogene	pseudogene							Standard	NR_026938		Approved		uc010jxi.1		OTTHUMG00000014668		6.37:g.41095319C>T				R	SNP	-	NULL	ENST00000567255.1	37	NULL		6																																																																																			-	ADCY10P1	-	-		0.418	ADCY10P1-002	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ADCY10P1	HGNC	pseudogene	OTTHUMT00000436223.1	0	0	0	85	85	98	0.00	0.00	C	NR_026938		41095319	+1	38	39	40	49	tier1	no_errors	ENST00000567255	ensembl	human	known	74_37	rna	48.72	44.32	SNP	0.022	T	38	40
SCN11A	11280	genome.wustl.edu	37	3	38945543	38945543	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:38945543G>A	ENST00000302328.3	-	12	1853	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	SCN11A_ENST00000444237.2_Missense_Mutation_p.S552F|SCN11A_ENST00000456224.3_Missense_Mutation_p.S552F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S552F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	552					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGGTACTTGGATGCCAGGTT	0.507													ENSG00000168356																																					0													147.0	123.0	131.0					3																	38945543		2203	4300	6503	SO:0001583	missense	0			-	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1655C>T	3.37:g.38945543G>A	ENSP00000307599:p.Ser552Phe		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.S552F	ENST00000302328.3	37	c.1655	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230666	0.39399	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96232	-3.95;-3.95;-3.9;-3.82	5.58	5.58	0.84498	.	0.817913	0.11467	N	0.561142	D	0.96614	0.8895	L	0.48362	1.52	0.26499	N	0.974809	D	0.67145	0.996	P	0.59703	0.862	D	0.91753	0.5414	10	0.72032	D	0.01	.	11.9989	0.53219	0.0:0.0:0.7309:0.2691	.	552	Q9UI33	SCNBA_HUMAN	F	552	ENSP00000307599:S552F;ENSP00000400945:S552F;ENSP00000416757:S552F;ENSP00000408028:S552F	ENSP00000307599:S552F	S	-	2	0	SCN11A	38920547	0.317000	0.24589	0.920000	0.36463	0.021000	0.10359	3.408000	0.52651	2.628000	0.89032	0.585000	0.79938	TCC	-	SCN11A	-	NULL		0.507	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	0	0	0	76	76	118	0.00	0.00	G	NM_014139		38945543	-1	25	36	69	82	tier1	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	26.60	30.51	SNP	0.547	A	25	69
GBE1	2632	genome.wustl.edu	37	3	81699029	81699029	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:81699029G>A	ENST00000429644.2	-	4	1116	c.473C>T	c.(472-474)tCa>tTa	p.S158L	GBE1_ENST00000489715.1_Missense_Mutation_p.S117L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	158					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGCCCACGGTGAAATACGATA	0.358									Glycogen Storage Disease, type IV				ENSG00000114480																																					0													92.0	88.0	89.0					3																	81699029		1869	4112	5981	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.473C>T	3.37:g.81699029G>A	ENSP00000410833:p.Ser158Leu		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.S158L	ENST00000429644.2	37	c.473	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.273275	0.95429	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.18338	2.22;2.23	5.83	5.83	0.93111	Immunoglobulin E-set (1);Glycoside hydrolase, family 13, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	M	0.81112	2.525	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.69479	0.806;0.964	T	0.45498	-0.9257	10	0.87932	D	0	-14.7447	20.1104	0.97910	0.0:0.0:1.0:0.0	.	117;158	E9PGM4;Q04446	.;GLGB_HUMAN	L	158;209;117	ENSP00000410833:S158L;ENSP00000419638:S117L	ENSP00000264326:S209L	S	-	2	0	GBE1	81781719	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.418000	0.97395	2.760000	0.94817	0.650000	0.86243	TCA	-	GBE1	-	pfam_Glyco_hydro_13_N,superfamily_Ig_E-set		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	0	0	0	81	81	146	0.00	0.00	G			81699029	-1	40	54	55	74	tier1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	42.11	42.19	SNP	1.000	A	40	55
GRIK1	2897	genome.wustl.edu	37	21	31045377	31045377	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:31045377C>T	ENST00000399907.1	-	4	1063	c.652G>A	c.(652-654)Gag>Aag	p.E218K	GRIK1_ENST00000309434.7_Missense_Mutation_p.E218K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E218K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E218K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E218K|GRIK1_ENST00000399914.1_Missense_Mutation_p.E218K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E218K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E218K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E218K|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	218					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTCTTCATCTCCTTGAGTAAA	0.443													ENSG00000171189																																					0													143.0	151.0	148.0					21																	31045377		2203	4300	6503	SO:0001583	missense	0			-		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.652G>A	21.37:g.31045377C>T	ENSP00000382791:p.Glu218Lys		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E218K	ENST00000399907.1	37	c.652	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	35	5.435923	0.96168	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.71674	0.981;0.991;0.998;0.991;0.991;0.988	D;D;D;D;D;P	0.66351	0.915;0.915;0.943;0.915;0.915;0.862	D	0.92560	0.6057	10	0.87932	D	0	.	19.0293	0.92948	0.0:1.0:0.0:0.0	.	218;218;218;218;218;218	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	K	218;218;218;218;218;162;218;218;218;218	ENSP00000327687:E218K;ENSP00000373777:E218K;ENSP00000382797:E218K;ENSP00000382798:E218K;ENSP00000446326:E218K;ENSP00000373776:E218K;ENSP00000382791:E218K;ENSP00000382793:E218K;ENSP00000311646:E218K	ENSP00000311646:E218K	E	-	1	0	GRIK1	29967248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.628000	0.83189	2.815000	0.96918	0.650000	0.86243	GAG	-	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.443	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	0	0	0	67	67	79	0.00	0.00	C			31045377	-1	28	37	53	41	tier1	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	34.57	47.44	SNP	1.000	T	28	53
WBSCR17	64409	genome.wustl.edu	37	7	71036341	71036341	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:71036341C>T	ENST00000333538.5	+	6	1668	c.1034C>T	c.(1033-1035)cCt>cTt	p.P345L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	345	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTTCTGGATCCTGGCATGGAT	0.507													ENSG00000185274																																					0													213.0	202.0	206.0					7																	71036341		2203	4300	6503	SO:0001583	missense	0			-	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1034C>T	7.37:g.71036341C>T	ENSP00000329654:p.Pro345Leu		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P345L	ENST00000333538.5	37	c.1034	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579761	0.65992	.	.	ENSG00000185274	ENST00000333538	T	0.65916	-0.18	5.05	5.05	0.67936	.	0.113018	0.64402	D	0.000007	T	0.60715	0.2290	M	0.64997	1.995	0.80722	D	1	B	0.19706	0.038	B	0.19148	0.024	T	0.59974	-0.7353	10	0.51188	T	0.08	.	15.2514	0.73549	0.0:1.0:0.0:0.0	.	345	Q6IS24	GLTL3_HUMAN	L	345	ENSP00000329654:P345L	ENSP00000329654:P345L	P	+	2	0	WBSCR17	70674277	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	6.682000	0.74528	2.629000	0.89072	0.637000	0.83480	CCT	-	WBSCR17	-	NULL		0.507	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	0	0	0	87	87	138	0.00	0.00	C	NM_022479		71036341	+1	21	16	59	39	tier1	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	26.25	29.09	SNP	1.000	T	21	59
ZC2HC1A	51101	genome.wustl.edu	37	8	79610654	79610654	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:79610654C>T	ENST00000263849.4	+	7	712	c.610C>T	c.(610-612)Cct>Tct	p.P204S		NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	204							metal ion binding (GO:0046872)										ATAAGGTGTTCCTTCAGGTAA	0.353													ENSG00000104427																																					0													104.0	103.0	103.0					8																	79610654		2203	4300	6503	SO:0001583	missense	0			-		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.610C>T	8.37:g.79610654C>T	ENSP00000263849:p.Pro204Ser		Q9Y372	Missense_Mutation	SNP	NULL	p.P204S	ENST00000263849.4	37	c.610	CCDS6223.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.80|10.80	1.451573|1.451573	0.26074|0.26074	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.42513|.	0.97|.	5.75|5.75	0.688|0.688	0.18027|0.18027	.|.	0.659654|.	0.15602|.	N|.	0.253856|.	T|T	0.45034|0.45034	0.1322|0.1322	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.10296|.	0.003|.	B|.	0.17433|.	0.018|.	T|T	0.27706|0.27706	-1.0066|-1.0066	9|5	.|.	.|.	.|.	-2.2694|-2.2694	1.7608|1.7608	0.02992|0.02992	0.1314:0.4367:0.128:0.3039|0.1314:0.4367:0.128:0.3039	.|.	204|.	Q96GY0|.	F164A_HUMAN|.	S|F	204|36	ENSP00000263849:P204S|.	.|.	P|S	+|+	1|2	0|0	FAM164A|FAM164A	79773209|79773209	0.020000|0.020000	0.18652|0.18652	0.057000|0.057000	0.19452|0.19452	0.827000|0.827000	0.46813|0.46813	0.028000|0.028000	0.13644|0.13644	-0.158000|-0.158000	0.11040|0.11040	0.557000|0.557000	0.71058|0.71058	CCT|TCC	-	ZC2HC1A	-	NULL		0.353	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2	0	0	0	89	89	111	0.00	0.00	C	NM_016010		79610654	+1	19	36	70	54	tier1	no_errors	ENST00000263849	ensembl	human	known	74_37	missense	21.35	40.00	SNP	0.063	T	19	70
PRLR	5618	genome.wustl.edu	37	5	35086389	35086389	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35086389C>T	ENST00000382002.5	-	4	550	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.E42K|PRLR_ENST00000231423.3_Missense_Mutation_p.E42K|PRLR_ENST00000310101.5_Missense_Mutation_p.E42K|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.E42K|PRLR_ENST00000542609.1_Missense_Mutation_p.E42K|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	42	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTGAATGTTTCCTTATTGGGA	0.458													ENSG00000113494																																					0													107.0	100.0	102.0					5																	35086389		2203	4300	6503	SO:0001583	missense	0			-		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.124G>A	5.37:g.35086389C>T	ENSP00000371432:p.Glu42Lys		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E42K	ENST00000382002.5	37	c.124	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.575211	0.96553	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330;ENST00000504500	T;T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.75	5.75	0.90469	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.044434	0.85682	D	0.000000	T	0.80763	0.4685	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.998	T	0.82248	-0.0551	10	0.87932	D	0	-16.6611	18.7	0.91617	0.0:1.0:0.0:0.0	.	42;42;42;42	P16471;P16471-7;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	K	42	ENSP00000231423:E42K;ENSP00000424841:E42K;ENSP00000311613:E42K;ENSP00000441813:E42K;ENSP00000371432:E42K;ENSP00000309008:E42K;ENSP00000423493:E42K;ENSP00000427060:E42K;ENSP00000422385:E42K;ENSP00000422867:E42K	ENSP00000231423:E42K	E	-	1	0	PRLR	35122146	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.724000	0.74747	2.718000	0.92993	0.561000	0.74099	GAA	-	PRLR	-	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	0	0	0	120	120	139	0.00	0.00	C			35086389	-1	45	68	60	68	tier1	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	42.86	50.00	SNP	1.000	T	45	60
TTN	7273	genome.wustl.edu	37	2	179611691	179611691	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179611691C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.E5146K|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			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)			TAGAAATGCTCATTTGGTGTA	0.418													ENSG00000155657																																					0													136.0	133.0	134.0					2																	179611691		2203	4299	6502	SO:0001627	intron_variant	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.10361-5043G>A	2.37:g.179611691C>T			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_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E5146K	ENST00000591111.1	37	c.15436		2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373006	0.61624	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.62788	0.0	6.06	6.06	0.98353	.	.	.	.	.	T	0.70378	0.3217	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65429	-0.6170	9	0.30078	T	0.28	.	18.3939	0.90492	0.0:1.0:0.0:0.0	.	5146	Q8WZ42-6	.	K	5146;427	ENSP00000354117:E5146K	ENSP00000304714:E427K	E	-	1	0	TTN	179319936	0.995000	0.38212	0.538000	0.28064	0.265000	0.26407	4.969000	0.63735	2.882000	0.98803	0.655000	0.94253	GAG	-	TTN	-	NULL		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	68	68	124	0.00	0.00	C	NM_133378		179611691	-1	23	21	34	58	tier1	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	40.35	26.58	SNP	0.997	T	23	34
RPS6KA1	6195	genome.wustl.edu	37	1	26900607	26900607	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:26900607C>T	ENST00000374168.2	+	22	2277	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S692F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S717F|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S697F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S616F|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S616F	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	708					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTCAACAGCTCCAAGCCCACC	0.617													ENSG00000117676																																					0													124.0	104.0	111.0					1																	26900607		2203	4300	6503	SO:0001583	missense	0			-	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.2123C>T	1.37:g.26900607C>T	ENSP00000363283:p.Ser708Phe		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S717F	ENST00000374168.2	37	c.2150	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728277	0.48833	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382;ENST00000438977	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.44	2.41	0.29592	Protein kinase-like domain (1);	0.272209	0.43416	D	0.000572	T	0.51007	0.1649	M	0.63843	1.955	0.58432	D	0.999999	P;B	0.38617	0.64;0.171	P;B	0.49561	0.615;0.092	T	0.51718	-0.8670	10	0.72032	D	0.01	.	11.8287	0.52282	0.1296:0.6208:0.2496:0.0	.	717;708	Q15418-2;Q15418	.;KS6A1_HUMAN	F	708;697;616;616;692;717;67	ENSP00000363283:S708F;ENSP00000363281:S697F;ENSP00000431651:S616F;ENSP00000363277:S616F;ENSP00000432281:S692F;ENSP00000435412:S717F;ENSP00000403548:S67F	ENSP00000363277:S616F	S	+	2	0	RPS6KA1	26773194	1.000000	0.71417	0.996000	0.52242	0.837000	0.47467	3.789000	0.55454	0.219000	0.20840	0.313000	0.20887	TCC	-	RPS6KA1	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II		0.617	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	0	0	0	78	78	33	0.00	0.00	C	NM_002953		26900607	+1	30	12	35	16	tier1	no_errors	ENST00000531382	ensembl	human	known	74_37	missense	46.15	42.86	SNP	1.000	T	30	35
CTXN2	399697	genome.wustl.edu	37	15	48493637	48493637	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:48493637G>A	ENST00000417307.2	+	2	512	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	RP11-605F22.1_ENST00000559875.1_RNA|CTXN2_ENST00000541248.1_Missense_Mutation_p.R47Q	NM_001145668.1	NP_001139140.1	P0C2S0	CTXN2_HUMAN	cortexin 2	47						integral component of membrane (GO:0016021)		p.R47Q(2)		endometrium(1)|kidney(1)	2						CTTATTATCCGATGCTTCAAA	0.398													ENSG00000233932																																					2	Substitution - Missense(2)	endometrium(2)											339.0	267.0	289.0					15																	48493637		687	1588	2275	SO:0001583	missense	0			-	BK004876	CCDS45254.1	15q21.1	2013-09-20			ENSG00000233932	ENSG00000233932			31109	protein-coding gene	gene with protein product							Standard	NM_001145668		Approved		uc001zwm.1	P0C2S0	OTTHUMG00000172152	ENST00000417307.2:c.140G>A	15.37:g.48493637G>A	ENSP00000406145:p.Arg47Gln			Missense_Mutation	SNP	pfam_Cortexin	p.R47Q	ENST00000417307.2	37	c.140	CCDS45254.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.931637	0.97116	.	.	ENSG00000233932	ENST00000417307;ENST00000541248	T;T	0.52057	0.68;0.68	5.76	5.76	0.90799	.	.	.	.	.	T	0.72676	0.3490	.	.	.	0.80722	D	1	D	0.65815	0.995	D	0.76575	0.988	T	0.75141	-0.3422	8	0.87932	D	0	-5.9188	19.9571	0.97224	0.0:0.0:1.0:0.0	.	47	P0C2S0	CTXN2_HUMAN	Q	47	ENSP00000406145:R47Q;ENSP00000445900:R47Q	ENSP00000406145:R47Q	R	+	2	0	CTXN2	46280929	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.378000	0.97191	2.721000	0.93114	0.655000	0.94253	CGA	-	CTXN2	-	pfam_Cortexin		0.398	CTXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTXN2	HGNC	protein_coding	OTTHUMT00000417125.1	0	0	0	73	73	89	0.00	0.00	G			48493637	+1	31	30	27	37	tier1	no_errors	ENST00000417307	ensembl	human	known	74_37	missense	53.45	44.78	SNP	1.000	A	31	27
UNC5D	137970	genome.wustl.edu	37	8	35544127	35544127	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:35544127G>A	ENST00000404895.2	+	7	1312	c.984G>A	c.(982-984)cgG>cgA	p.R328R	UNC5D_ENST00000287272.2_Silent_p.R272R|UNC5D_ENST00000420357.1_Silent_p.R272R|UNC5D_ENST00000453357.2_Silent_p.R323R|UNC5D_ENST00000416672.1_Silent_p.R328R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	328	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AACATTTGCGGATCCGGGAGT	0.502													ENSG00000156687																																					0													128.0	110.0	116.0					8																	35544127		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.984G>A	8.37:g.35544127G>A			Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.R328	ENST00000404895.2	37	c.984	CCDS6093.2	8																																																																																			-	UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	0	0	0	61	61	56	0.00	0.00	G			35544127	+1	23	12	23	34	tier1	no_errors	ENST00000404895	ensembl	human	known	74_37	silent	50.00	26.09	SNP	0.290	A	23	23
MIR518F	574472	genome.wustl.edu	37	19	54204530	54204530	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:54204530C>T	ENST00000384973.1	+	0	87				MIR520B_ENST00000384989.1_RNA|MIR523_ENST00000385281.1_RNA|MIR518B_ENST00000385127.1_RNA	NR_030194.1				microRNA 518f																		GAAAGTGCTTCCTTTTAGAGG	0.428													ENSG00000207722																																					0													72.0	68.0	69.0					19																	54204530		1568	3582	5150			0			-			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54204530C>T				R	SNP	-	NULL	ENST00000384973.1	37	NULL		19																																																																																			-	MIR520B	-	-		0.428	MIR518F-201	KNOWN	basic	miRNA	MIR520B	HGNC	miRNA		0	0	0	68	68	54	0.00	0.00	C	NR_030194		54204530	+1	40	19	39	17	tier1	no_errors	ENST00000384989	ensembl	human	known	74_37	rna	50.63	52.78	SNP	0.026	T	40	39
WT1-AS	51352	genome.wustl.edu	37	11	32460385	32460385	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:32460385G>A	ENST00000395900.1	+	0	1263				WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000426618.2_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						cgtccagttggaggttttacc	0.498													ENSG00000183242																																					0													27.0	29.0	28.0					11																	32460385		2202	4299	6501			0			-	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460385G>A			Q4KMY0|Q96A27	R	SNP	-	NULL	ENST00000395900.1	37	NULL		11																																																																																			-	WT1-AS	-	-		0.498	WT1-AS-001	KNOWN	basic	antisense	WT1-AS	HGNC	antisense	OTTHUMT00000095437.1	0	0	1	46	46	143	0.00	0.69	G	NR_023920		32460385	+1	15	71	16	56	tier1	no_errors	ENST00000395900	ensembl	human	known	74_37	rna	48.39	55.91	SNP	0.000	A	15	16
ADCY10P1	221442	genome.wustl.edu	37	6	41090970	41090970	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:41090970G>A	ENST00000567255.1	+	0	2999					NR_026938.2				adenylate cyclase 10 (soluble) pseudogene 1																		TGGAACCAAAGAGAAGAAGAC	0.458													ENSG00000161912																																					0																																												0			-			6p21.1	2012-07-04			ENSG00000161912	ENSG00000161912			44143	pseudogene	pseudogene							Standard	NR_026938		Approved		uc010jxi.1		OTTHUMG00000014668		6.37:g.41090970G>A				R	SNP	-	NULL	ENST00000567255.1	37	NULL		6																																																																																			-	ADCY10P1	-	-		0.458	ADCY10P1-002	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ADCY10P1	HGNC	pseudogene	OTTHUMT00000436223.1	0	0	0	47	47	117	0.00	0.00	G	NR_026938		41090970	+1	6	19	25	92	tier1	no_errors	ENST00000567255	ensembl	human	known	74_37	rna	19.35	16.96	SNP	0.965	A	6	25
SCUBE1	80274	genome.wustl.edu	37	22	43715970	43715970	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:43715970G>A	ENST00000360835.4	-	3	448	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	SCUBE1_ENST00000290460.7_Silent_p.L108L	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	108	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCGTGTGCCAGCATGAAGCCA	0.542													ENSG00000159307																																					0													211.0	153.0	173.0					22																	43715970		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.322C>T	22.37:g.43715970G>A			Q5R336	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.L108	ENST00000360835.4	37	c.322	CCDS14048.1	22																																																																																			-	SCUBE1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.542	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	0	0	0	68	68	73	0.00	0.00	G	NM_173050		43715970	-1	25	17	48	69	tier1	no_errors	ENST00000360835	ensembl	human	known	74_37	silent	34.25	19.77	SNP	1.000	A	25	48
TNXB	7148	genome.wustl.edu	37	6	32053875	32053875	+	Silent	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:32053875A>G	ENST00000375244.3	-	7	3001	c.2800T>C	c.(2800-2802)Ttg>Ctg	p.L934L	TNXB_ENST00000375247.2_Silent_p.L934L			P22105	TENX_HUMAN	tenascin XB	1027					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTAGTCCCCAAGAGGCCCAAG	0.632													ENSG00000168477																																					0													6.0	7.0	7.0					6																	32053875		1167	2478	3645	SO:0001819	synonymous_variant	0			-	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2800T>C	6.37:g.32053875A>G			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.L934	ENST00000375244.3	37	c.2800		6																																																																																			-	TNXB	-	NULL		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	0	0	0	58	58	39	0.00	0.00	A	NM_019105		32053875	-1	19	19	33	25	tier1	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	36.54	43.18	SNP	1.000	G	19	33
MYH7B	57644	genome.wustl.edu	37	20	33570357	33570357	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:33570357C>T	ENST00000262873.7	+	8	841	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	208	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGCAAGAAGGCCGTAAGACTT	0.517													ENSG00000078814																																					0													49.0	53.0	51.0					20																	33570357		1976	4155	6131	SO:0001630	splice_region_variant	0			-	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.750+1C>T	20.37:g.33570357C>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tR-bd_arm,superfamily_t-SRE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A250V	ENST00000262873.7	37	c.749	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584479	0.46110	.	.	ENSG00000078814	ENST00000262873	T	0.71461	-0.57	4.83	4.83	0.62350	Myosin head, motor domain (2);	0.000000	0.37669	N	0.001987	T	0.44052	0.1275	N	0.04018	-0.295	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39333	-0.9619	10	0.30078	T	0.28	.	6.7747	0.23613	0.0:0.5732:0.3313:0.0955	.	208	A7E2Y1	MYH7B_HUMAN	V	250	ENSP00000262873:A250V	ENSP00000262873:A250V	A	+	2	0	MYH7B	33034018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.458000	0.45014	2.504000	0.84457	0.511000	0.50034	GCC	-	MYH7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.517	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	0	0	0	144	144	43	0.00	0.00	C	NM_020884	Missense_Mutation	33570357	+1	58	17	92	39	tier1	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	38.67	30.36	SNP	1.000	T	58	92
TESPA1	9840	genome.wustl.edu	37	12	55356787	55356787	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:55356787G>A	ENST00000449076.1	-	9	1027	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	TESPA1_ENST00000524622.1_Missense_Mutation_p.R161W|TESPA1_ENST00000531122.1_Missense_Mutation_p.R161W|TESPA1_ENST00000532804.1_Missense_Mutation_p.R161W|TESPA1_ENST00000316577.8_Missense_Mutation_p.R299W|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	299					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GGTGGTGGCCGGTCTCGGGGG	0.542													ENSG00000135426																																					0													64.0	65.0	65.0					12																	55356787		1945	4122	6067	SO:0001583	missense	0			-	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.895C>T	12.37:g.55356787G>A	ENSP00000400892:p.Arg299Trp		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.R299W	ENST00000449076.1	37	c.895	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045851	0.36085	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.49	-1.22	0.09494	.	0.406596	0.20506	N	0.090992	T	0.50411	0.1614	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	P	0.50708	0.648	T	0.50866	-0.8777	10	0.66056	D	0.02	-5.6198	8.5627	0.33520	0.0:0.1632:0.2903:0.5465	.	299	A2RU30	K0748_HUMAN	W	161;161;299;299;161	ENSP00000435622:R161W;ENSP00000432030:R161W;ENSP00000400892:R299W;ENSP00000312679:R299W;ENSP00000433098:R161W	ENSP00000312679:R299W	R	-	1	2	KIAA0748	53643054	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	0.498000	0.22530	-0.001000	0.14495	0.655000	0.94253	CGG	-	TESPA1	-	NULL		0.542	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	0	0	0	33	33	32	0.00	0.00	G	NM_001098815		55356787	-1	8	13	17	19	tier1	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	32.00	40.62	SNP	0.001	A	8	17
BIN1	274	genome.wustl.edu	37	2	127828348	127828348	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:127828348G>A	ENST00000316724.5	-	3	621	c.210C>T	c.(208-210)gcC>gcT	p.A70A	BIN1_ENST00000393041.3_Silent_p.A70A|BIN1_ENST00000357970.3_Silent_p.A70A|BIN1_ENST00000351659.3_Silent_p.A70A|BIN1_ENST00000393040.3_Silent_p.A70A|BIN1_ENST00000346226.3_Silent_p.A70A|BIN1_ENST00000348750.4_Silent_p.A70A|BIN1_ENST00000409400.1_Silent_p.A70A|BIN1_ENST00000352848.3_Silent_p.A70A|BIN1_ENST00000259238.4_Silent_p.A70A|BIN1_ENST00000376113.2_Silent_p.A70A	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	70	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTTGACGGAGGCCAGGTAGG	0.647													ENSG00000136717																																					0													55.0	53.0	54.0					2																	127828348		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.210C>T	2.37:g.127828348G>A			O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.A70	ENST00000316724.5	37	c.210	CCDS2138.1	2																																																																																			-	BIN1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.647	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2	0	0	0	43	43	45	0.00	0.00	G	NM_139343		127828348	-1	7	7	24	20	tier1	no_errors	ENST00000316724	ensembl	human	known	74_37	silent	22.58	25.93	SNP	0.968	A	7	24
KMT2B	9757	genome.wustl.edu	37	19	36214021	36214021	+	Silent	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36214021C>A	ENST00000222270.7	+	6	2847	c.2847C>A	c.(2845-2847)ccC>ccA	p.P949P	KMT2B_ENST00000420124.1_Silent_p.P949P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	949					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCACACACCCCGGCGCTCAC	0.657													ENSG00000272333																																					0													44.0	53.0	50.0					19																	36214021		2092	4215	6307	SO:0001819	synonymous_variant	0			-	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2847C>A	19.37:g.36214021C>A			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P949	ENST00000222270.7	37	c.2847	CCDS46055.1	19																																																																																			-	KMT2B	-	pirsf_MeTrfase_trithorax		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		0	0	0	121	121	27	0.00	0.00	C	NM_014727		36214021	+1	25	4	100	32	tier1	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	20.00	11.11	SNP	0.055	A	25	100
PLCE1	51196	genome.wustl.edu	37	10	96053358	96053358	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:96053358C>T	ENST00000371380.3	+	22	5364	c.5129C>T	c.(5128-5130)cCa>cTa	p.P1710L	PLCE1_ENST00000371385.3_Missense_Mutation_p.P1402L|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1402L|PLCE1_ENST00000260766.3_Missense_Mutation_p.P1710L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1710	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGAATGAGCCCAGGGGAGACA	0.403													ENSG00000138193																																					0													111.0	109.0	110.0					10																	96053358		1864	4101	5965	SO:0001583	missense	0			-		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5129C>T	10.37:g.96053358C>T	ENSP00000360431:p.Pro1710Leu		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P1710L	ENST00000371380.3	37	c.5129	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874306	0.91664	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25912	1.77;1.77;1.79;1.79	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.211637	0.41001	D	0.000967	T	0.31575	0.0801	L	0.27053	0.805	0.80722	D	1	D;P;P	0.67145	0.996;0.887;0.917	P;P;B	0.51516	0.672;0.638;0.421	T	0.03268	-1.1054	10	0.72032	D	0.01	.	19.5923	0.95520	0.0:1.0:0.0:0.0	.	1694;1402;1710	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	1710;1710;1402;1402	ENSP00000260766:P1710L;ENSP00000360431:P1710L;ENSP00000360438:P1402L;ENSP00000360426:P1402L	ENSP00000260766:P1710L	P	+	2	0	PLCE1	96043348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.192000	0.77771	2.798000	0.96311	0.650000	0.86243	CCA	-	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.403	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	0	0	0	85	85	114	0.00	0.00	C	NM_016341		96053358	+1	32	68	39	30	tier1	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	45.07	69.39	SNP	1.000	T	32	39
NOVA1	4857	genome.wustl.edu	37	14	26949194	26949194	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:26949194G>A	ENST00000344429.5	-	3	439	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	NOVA1_ENST00000539517.2_Missense_Mutation_p.R146C|NOVA1_ENST00000547619.1_Missense_Mutation_p.R146C|NOVA1_ENST00000267422.7_Missense_Mutation_p.R24C|NOVA1_ENST00000465357.2_Missense_Mutation_p.R146C|NOVA1_ENST00000574031.1_Missense_Mutation_p.R146C	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	149					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGTTTGATGCGATCTGGATTA	0.388													ENSG00000139910																																					0													209.0	178.0	189.0					14																	26949194		2203	4300	6503	SO:0001583	missense	0			-	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.436C>T	14.37:g.26949194G>A	ENSP00000342387:p.Arg146Cys		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R146C	ENST00000344429.5	37	c.436	CCDS9635.1	14	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002355	0.93227	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.63913	-0.07;1.4;1.3;1.37;-0.07;0.72;0.8;0.73;0.71	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000004	T	0.73644	0.3613	L	0.41492	1.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.985;1.0;0.973;0.988	T	0.71265	-0.4644	10	0.39692	T	0.17	-15.2117	19.6334	0.95719	0.0:0.0:1.0:0.0	.	146;149;146;146	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	C	146;146;24;105;24;24;109;146;146	ENSP00000447391:R146C;ENSP00000438875:R146C;ENSP00000267422:R24C;ENSP00000408914:R105C;ENSP00000299472:R24C;ENSP00000449113:R24C;ENSP00000449185:R109C;ENSP00000342387:R146C;ENSP00000448157:R146C	ENSP00000267422:R24C	R	-	1	0	NOVA1	26019034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.629000	0.89072	0.585000	0.79938	CGC	-	NOVA1	-	NULL		0.388	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000276557.1	0	0	0	83	83	138	0.00	0.00	G	NM_006491		26949194	-1	10	31	63	81	tier1	no_errors	ENST00000539517	ensembl	human	known	74_37	missense	13.70	27.68	SNP	1.000	A	10	63
VSX2	338917	genome.wustl.edu	37	14	74707946	74707946	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:74707946G>A	ENST00000261980.2	+	2	522	c.432G>A	c.(430-432)aaG>aaA	p.K144K		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	144					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		ACCAGACCAAGAAACGGAAGA	0.587													ENSG00000119614																																					0													76.0	81.0	79.0					14																	74707946		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.432G>A	14.37:g.74707946G>A			A1A4X6	Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.K144	ENST00000261980.2	37	c.432	CCDS9827.1	14																																																																																			-	VSX2	-	superfamily_Homeodomain-like		0.587	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX2	HGNC	protein_coding	OTTHUMT00000412323.1	1	1	0	108	108	53	0.92	0.00	G	NM_182894		74707946	+1	44	22	39	49	tier1	no_errors	ENST00000261980	ensembl	human	known	74_37	silent	53.01	30.99	SNP	1.000	A	44	39
FASN	2194	genome.wustl.edu	37	17	80053287	80053287	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:80053287G>A	ENST00000306749.2	-	3	407	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	63	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTCCGAAGAAGGAGGCATCAA	0.617													ENSG00000169710																									Colon(59;314 1043 11189 28578 32273)												0													75.0	68.0	70.0					17																	80053287		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.189C>T	17.37:g.80053287G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.S63	ENST00000306749.2	37	c.189	CCDS11801.1	17																																																																																			-	FASN	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom		0.617	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	0	0	0	103	103	97	0.00	0.00	G	NM_004104		80053287	-1	69	50	26	17	tier1	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	72.63	74.63	SNP	1.000	A	69	26
OLFM4	10562	genome.wustl.edu	37	13	53624759	53624759	+	Silent	SNP	G	G	A	rs199789943		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:53624759G>A	ENST00000219022.2	+	5	1464	c.1386G>A	c.(1384-1386)ggG>ggA	p.G462G		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	462	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAAACACAGGGAAAGAGGGCA	0.398													ENSG00000102837																																					0													112.0	109.0	110.0					13																	53624759		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1386G>A	13.37:g.53624759G>A			O95362|Q5VWG0|Q86T22	Silent	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.G462	ENST00000219022.2	37	c.1386	CCDS9440.1	13																																																																																			rs199789943	OLFM4	-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like		0.398	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2	0	0	0	78	78	176	0.00	0.00	G	NM_006418		53624759	+1	19	41	45	88	tier1	no_errors	ENST00000219022	ensembl	human	known	74_37	silent	29.69	31.54	SNP	0.000	A	19	45
MORN1	79906	genome.wustl.edu	37	1	2267971	2267971	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:2267971G>A	ENST00000378531.3	-	12	1360	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	396								p.S396F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCCGCCTCTGGATCTGCCGCC	0.657													ENSG00000116151																																					1	Substitution - Missense(1)	breast(1)											31.0	33.0	32.0					1																	2267971		2203	4300	6503	SO:0001583	missense	0			-	AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.1187C>T	1.37:g.2267971G>A	ENSP00000367792:p.Ser396Phe		A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.S396F	ENST00000378531.3	37	c.1187	CCDS40.1	1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.067966	0.20067	.	.	ENSG00000116151	ENST00000378531	T	0.50001	0.76	2.43	1.47	0.22746	.	1.658450	0.03744	N	0.255480	T	0.35566	0.0936	L	0.29908	0.895	0.09310	N	0.999999	P	0.46277	0.875	B	0.38327	0.271	T	0.35450	-0.9788	10	0.66056	D	0.02	.	6.2625	0.20907	0.0:0.0:0.7028:0.2972	.	396	Q5T089	MORN1_HUMAN	F	396	ENSP00000367792:S396F	ENSP00000367792:S396F	S	-	2	0	MORN1	2257831	0.011000	0.17503	0.001000	0.08648	0.231000	0.25187	1.805000	0.38883	0.559000	0.29153	0.313000	0.20887	TCC	-	MORN1	-	NULL		0.657	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	0	0	0	52	52	34	0.00	0.00	G	NM_024848		2267971	-1	49	23	42	27	tier1	no_errors	ENST00000378531	ensembl	human	known	74_37	missense	53.85	46.00	SNP	0.002	A	49	42
UBR4	23352	genome.wustl.edu	37	1	19401406	19401406	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:19401406G>A	ENST00000375254.3	-	106	15515				RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375226.2_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000429347.2_Intron|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000375225.3_Intron	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGCACAACGGGCAGAGGTGT	0.577													ENSG00000272084																																					0													64.0	62.0	63.0					1																	19401406		2203	4300	6503	SO:0001627	intron_variant	0			-	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15488-16C>T	1.37:g.19401406G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	R	SNP	-	NULL	ENST00000375254.3	37	NULL	CCDS189.1	1																																																																																			-	RP5-1126H10.2	-	-		0.577	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272084	Clone_based_vega_gene	protein_coding	OTTHUMT00000007085.1	0	0	0	67	67	82	0.00	0.00	G	NM_020765		19401406	-1	32	32	45	29	tier1	no_errors	ENST00000606379	ensembl	human	known	74_37	rna	41.56	51.61	SNP	0.000	A	32	45
GPX5	2880	genome.wustl.edu	37	6	28501888	28501894	+	Frame_Shift_Del	DEL	GTCAGCT	GTCAGCT	-	rs536914105		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	GTCAGCT	GTCAGCT	GTCAGCT	-	GTCAGCT	GTCAGCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:28501888_28501894delGTCAGCT	ENST00000412168.2	+	5	699_705	c.610_616delGTCAGCT	c.(610-618)gtcagctcafs	p.VSS204fs	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	204					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCGGGCTACGGTCAGCTCAGTCAAGAC	0.517													ENSG00000224586																																					0																																										SO:0001589	frameshift_variant	0				AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.610_616delGTCAGCT	6.37:g.28501888_28501894delGTCAGCT	ENSP00000392398:p.Val204fs		A1A4Y0	Frame_Shift_Del	DEL	pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	p.V204fs	ENST00000412168.2	37	c.610_616	CCDS4652.1	6																																																																																				GPX5	-	superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase		0.517	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	HGNC	protein_coding	OTTHUMT00000043672.2	0	0	0	129	129	129	0.00	0.00	GTCAGCT			28501894	+1	16	16	78	78	tier1	no_errors	ENST00000412168	ensembl	human	known	74_37	frame_shift_del	17.02	17.02	DEL	0.233:0.458:0.424:0.434:0.390:0.010:0.000	-	16	78
CRTAC1	55118	genome.wustl.edu	37	10	99661285	99661285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:99661285delT	ENST00000370597.3	-	8	1463	c.1108delA	c.(1108-1110)agcfs	p.S372fs	CRTAC1_ENST00000370591.2_Frame_Shift_Del_p.S372fs|CRTAC1_ENST00000298819.4_Frame_Shift_Del_p.S372fs	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	372						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGAGGAGCTGCGGTAGGCA	0.567													ENSG00000095713																																					0													122.0	97.0	105.0					10																	99661285		2203	4300	6503	SO:0001589	frameshift_variant	0				AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1108delA	10.37:g.99661285delT	ENSP00000359629:p.Ser372fs		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Frame_Shift_Del	DEL	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.S370fs	ENST00000370597.3	37	c.1108	CCDS31266.1	10																																																																																				CRTAC1	-	NULL		0.567	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	0	0	0	95	95	62	0.00	0.00	T	NM_018058		99661285	-1	35	27	25	22	tier1	no_errors	ENST00000370597	ensembl	human	known	74_37	frame_shift_del	58.33	55.10	DEL	1.000	-	35	25
KMT2B	9757	genome.wustl.edu	37	19	36214019	36214019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:36214019delC	ENST00000222270.7	+	6	2845	c.2845delC	c.(2845-2847)cccfs	p.P949fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.P949fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	949					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCCCACACACCCCGGCGCTC	0.657													ENSG00000272333																																					0													44.0	54.0	51.0					19																	36214019		2099	4216	6315	SO:0001589	frameshift_variant	0				AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2845delC	19.37:g.36214019delC	ENSP00000222270:p.Pro949fs		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R950fs	ENST00000222270.7	37	c.2845	CCDS46055.1	19																																																																																				KMT2B	-	pirsf_MeTrfase_trithorax		0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		0	0	0	124	124	28	0.00	0.00	C	NM_014727		36214019	+1	25	4	101	34	tier1	no_errors	ENST00000222270	ensembl	human	known	74_37	frame_shift_del	19.84	10.53	DEL	0.167	-	25	101
ACY1	95	genome.wustl.edu	37	3	52019253	52019253	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:52019253delC	ENST00000404366.2	+	3	271	c.125delC	c.(124-126)gccfs	p.A42fs	ABHD14B_ENST00000483233.1_5'Flank|ACY1_ENST00000468068.1_3'UTR|ACY1_ENST00000458031.2_Frame_Shift_Del_p.A132fs|ACY1_ENST00000494103.1_Frame_Shift_Del_p.A42fs|ABHD14A-ACY1_ENST00000463937.1_Frame_Shift_Del_p.A143fs|ACY1_ENST00000476351.1_Intron|ACY1_ENST00000476854.1_Frame_Shift_Del_p.A42fs	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	42					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GAGGAGACAGCCCGCCAGCTG	0.647													ENSG00000243989																																					0													26.0	25.0	25.0					3																	52019253		2202	4300	6502	SO:0001589	frameshift_variant	0				L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.125delC	3.37:g.52019253delC	ENSP00000384296:p.Ala42fs		C9J6I6|C9J9D8|C9JWD4	Frame_Shift_Del	DEL	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.R133fs	ENST00000404366.2	37	c.395	CCDS2844.1	3																																																																																				ACY1	-	tigrfam_N-acyl_aa_amidohydrolase		0.647	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1	0	0	0	51	51	57	0.00	0.00	C	NM_000666		52019253	+1	15	7	39	31	tier1	no_errors	ENST00000458031	ensembl	human	known	74_37	frame_shift_del	27.78	18.42	DEL	0.952	-	15	39
FAM174A	345757	genome.wustl.edu	37	5	99897866	99897868	+	In_Frame_Del	DEL	GTT	GTT	-	rs6874840	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	GTT	GTT	GTT	-	GTT	GTT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:99897866_99897868delGTT	ENST00000312637.4	+	2	769_771	c.543_545delGTT	c.(541-546)acgttg>acg	p.L182del	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	182						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATGACAACACGTTGTTTGATGCC	0.384													ENSG00000174132																																					0																																										SO:0001651	inframe_deletion	0				AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.543_545delGTT	5.37:g.99897869_99897871delGTT	ENSP00000307954:p.Leu182del		A8K0H4	In_Frame_Del	DEL	pfam_DUF1180	p.L182in_frame_del	ENST00000312637.4	37	c.543_545	CCDS4090.1	5																																																																																				FAM174A	-	pfam_DUF1180		0.384	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	HGNC	protein_coding	OTTHUMT00000250631.2	0	0	0	138	138	137	0.00	0.00	GTT	NM_198507		99897868	+1	51	33	46	49	tier1	no_errors	ENST00000312637	ensembl	human	known	74_37	in_frame_del	52.58	40.24	DEL	0.765:0.773:0.936	-	51	46
SART3	9733	genome.wustl.edu	37	12	108938998	108938998	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:108938998delA	ENST00000228284.3	-	4	880	c.646delT	c.(646-648)tctfs	p.S216fs	SART3_ENST00000552221.1_5'Flank|SART3_ENST00000431469.2_Frame_Shift_Del_p.S216fs	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	216					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AAACCAACAGACGAGAGAGCC	0.507									Porokeratosis				ENSG00000075856																																					0													155.0	139.0	144.0					12																	108938998		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis		AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.646delT	12.37:g.108938998delA	ENSP00000228284:p.Ser216fs		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.S216fs	ENST00000228284.3	37	c.646	CCDS9117.1	12																																																																																				SART3	-	smart_HAT		0.507	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	0	0	0	112	112	176	0.00	0.00	A			108938998	-1	22	23	58	78	tier1	no_errors	ENST00000228284	ensembl	human	known	74_37	frame_shift_del	27.50	22.77	DEL	0.995	-	22	58
ENPP2	5168	genome.wustl.edu	37	8	120598528	120598528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:120598528delT	ENST00000075322.6	-	15	1323	c.1265delA	c.(1264-1266)aagfs	p.K422fs	ENPP2_ENST00000522167.1_Frame_Shift_Del_p.K61fs|ENPP2_ENST00000259486.6_Frame_Shift_Del_p.K474fs|ENPP2_ENST00000427067.2_Frame_Shift_Del_p.K418fs|ENPP2_ENST00000522826.1_Frame_Shift_Del_p.K422fs	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	422					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAAGTAAGGCTTAAAGTGCTG	0.373													ENSG00000136960																									Melanoma(20;305 879 2501 4818 31020)												0													188.0	164.0	173.0					8																	120598528		2203	4300	6503	SO:0001589	frameshift_variant	0				D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1265delA	8.37:g.120598528delT	ENSP00000075322:p.Lys422fs		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Frame_Shift_Del	DEL	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.K474fs	ENST00000075322.6	37	c.1421	CCDS34936.1	8																																																																																				ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.373	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	0	0	0	119	119	173	0.00	0.00	T			120598528	-1	35	57	128	128	tier1	no_errors	ENST00000259486	ensembl	human	known	74_37	frame_shift_del	21.47	30.81	DEL	1.000	-	35	128
PPP3CC	5533	genome.wustl.edu	37	8	22370843	22370844	+	Frame_Shift_Ins	INS	-	-	GTGTGACCTGC			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	-	-	-	GTGTGACCTGC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr8:22370843_22370844insGTGTGACCTGC	ENST00000240139.5	+	6	995_996	c.668_669insGTGTGACCTGC	c.(667-672)gtgtgtfs	p.-224fs	PPP3CC_ENST00000397775.3_Frame_Shift_Ins_p.-224fs|PPP3CC_ENST00000518852.1_Frame_Shift_Ins_p.-224fs|PPP3CC_ENST00000289963.8_Frame_Shift_Ins_p.-224fs	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTGGACCTGTGTGTGACCTGC	0.46													ENSG00000120910																																					0																																										SO:0001589	frameshift_variant	0					CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.669_679dupGTGTGACCTGC	8.37:g.22370844_22370854dupGTGTGACCTGC	ENSP00000240139:p.Cys224fs		B4DRT5|Q9BSS6|Q9H4M5	Frame_Shift_Ins	INS	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L227fs	ENST00000240139.5	37	c.668_669	CCDS34859.1	8																																																																																				PPP3CC	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.460	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	HGNC	protein_coding	OTTHUMT00000375652.1	0	0	0	112	112	112	0.00	0.00	-	NM_005605		22370844	+1	6	6	45	45	tier1	no_errors	ENST00000240139	ensembl	human	known	74_37	frame_shift_ins	11.76	11.76	INS	1.000:1.000	GTGTGACCTGC	6	45
CGNL1	84952	genome.wustl.edu	37	15	57731263	57731263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:57731263delT	ENST00000281282.5	+	2	1144	c.1066delT	c.(1066-1068)ttafs	p.L356fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	356	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGTGGATCAGTTAATTGAAAA	0.428													ENSG00000128849																																					0													45.0	48.0	47.0					15																	57731263		2192	4292	6484	SO:0001589	frameshift_variant	0				AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1066delT	15.37:g.57731263delT	ENSP00000281282:p.Leu356fs		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Frame_Shift_Del	DEL	pfam_Myosin_tail,prints_Tropomyosin	p.L356fs	ENST00000281282.5	37	c.1066	CCDS10161.1	15																																																																																				CGNL1	-	NULL		0.428	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	0	0	0	97	97	139	0.00	0.00	T	NM_032866		57731263	+1	29	53	34	28	tier1	no_errors	ENST00000281282	ensembl	human	known	74_37	frame_shift_del	46.03	65.43	DEL	0.962	-	29	34
BICD2	23299	genome.wustl.edu	37	9	95480170	95480170	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:95480170delT	ENST00000375512.3	-	6	2234	c.2167delA	c.(2167-2169)accfs	p.T723fs	BICD2_ENST00000356884.6_Frame_Shift_Del_p.T723fs	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	723	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGGTCTCGGTAACCATGGCC	0.567													ENSG00000185963																																					0													224.0	160.0	182.0					9																	95480170		2203	4300	6503	SO:0001589	frameshift_variant	0				AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2167delA	9.37:g.95480170delT	ENSP00000364662:p.Thr723fs		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Frame_Shift_Del	DEL	pfam_Bicaudal-D_microtubule-assoc	p.T723fs	ENST00000375512.3	37	c.2167	CCDS6700.1	9																																																																																				BICD2	-	pfam_Bicaudal-D_microtubule-assoc		0.567	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	0	0	0	36	36	102	0.00	0.00	T	NM_015250		95480170	-1	19	33	16	40	tier1	no_errors	ENST00000356884	ensembl	human	known	74_37	frame_shift_del	54.29	45.21	DEL	1.000	-	19	16
KNG1	3827	genome.wustl.edu	37	3	186450413	186450413	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:186450413delA	ENST00000265023.4	+	7	1092	c.880delA	c.(880-882)aacfs	p.N294fs	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Frame_Shift_Del_p.N258fs|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Frame_Shift_Del_p.N294fs	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	294	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGCAGAGAATAACGCAACTTT	0.418													ENSG00000113889																																					0													120.0	118.0	119.0					3																	186450413		2203	4300	6503	SO:0001589	frameshift_variant	0					CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.880delA	3.37:g.186450413delA	ENSP00000265023:p.Asn294fs		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Frame_Shift_Del	DEL	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.N294fs	ENST00000265023.4	37	c.880	CCDS43183.1	3																																																																																				KNG1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.418	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	0	0	0	75	75	158	0.00	0.00	A	NM_001102416		186450413	+1	20	47	68	123	tier1	no_errors	ENST00000265023	ensembl	human	known	74_37	frame_shift_del	22.73	27.65	DEL	0.017	-	20	68
AGK	55750	genome.wustl.edu	37	7	141315323	141315323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:141315323delG	ENST00000355413.4	+	8	736	c.476delG	c.(475-477)agtfs	p.S159fs	AGK_ENST00000473247.1_Frame_Shift_Del_p.S131fs|AGK_ENST00000535825.1_Frame_Shift_Del_p.S156fs	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	159	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGACCAGTAGTTTGAGTCAT	0.438													ENSG00000006530																																					0													184.0	184.0	184.0					7																	141315323		2203	4300	6503	SO:0001589	frameshift_variant	0				BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.476delG	7.37:g.141315323delG	ENSP00000347581:p.Ser159fs		Q75KN1|Q96GC3|Q9NP48	Frame_Shift_Del	DEL	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.S159fs	ENST00000355413.4	37	c.476	CCDS5865.1	7																																																																																				AGK	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.438	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	HGNC	protein_coding	OTTHUMT00000348969.1	0	0	0	134	134	117	0.00	0.00	G	NM_018238		141315323	+1	23	19	60	79	tier1	no_errors	ENST00000355413	ensembl	human	known	74_37	frame_shift_del	27.71	19.39	DEL	1.000	-	23	60
ADAMTSL1	92949	genome.wustl.edu	37	9	18680328	18680328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:18680328G>A	ENST00000380548.4	+	11	1494	c.1155G>A	c.(1153-1155)tgG>tgA	p.W385*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.W385*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.W368*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.W385*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	385	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCACCCCATGGACCGCGTGCT	0.612													ENSG00000178031																																					0													40.0	37.0	38.0					9																	18680328		2203	4300	6503	SO:0001587	stop_gained	0			-	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1155G>A	9.37:g.18680328G>A	ENSP00000369921:p.Trp385*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.W385*	ENST00000380548.4	37	c.1155	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	38	6.721413	0.97788	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	385;385;368;385	.	ENSP00000276935:W385X	W	+	3	0	ADAMTSL1	18670328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.765000	0.98953	2.941000	0.99782	0.655000	0.94253	TGG	-	ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.612	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	0	0	0	50	50	57	0.00	0.00	G			18680328	+1	10	5	8	9	tier1	no_errors	ENST00000327883	ensembl	human	known	74_37	nonsense	55.56	35.71	SNP	1.000	A	10	8
AGBL1	123624	genome.wustl.edu	37	15	86791006	86791006	+	Nonsense_Mutation	SNP	C	C	T	rs199894757	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:86791006C>T	ENST00000441037.2	+	6	588	c.493C>T	c.(493-495)Cga>Tga	p.R165*	AGBL1_ENST00000421325.2_Nonsense_Mutation_p.R165*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	165					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CGTGCAGATCCGACGGGGCTT	0.652													ENSG00000166748	C|||	3	0.000599042	0.0	0.0029	5008	,	,		19517	0.0		0.001	False		,,,				2504	0.0																0								C	stop/ARG	0,4312		0,0,2156	39.0	41.0	41.0		493	5.2	1.0	15		41	3,8513		0,3,4255	yes	stop-gained	AGBL1	NM_152336.2		0,3,6411	TT,TC,CC		0.0352,0.0,0.0234		165/1067	86791006	3,12825	2156	4258	6414	SO:0001587	stop_gained	0			-	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.493C>T	15.37:g.86791006C>T	ENSP00000413001:p.Arg165*		A1A4X5|A6NJH6|C9JHL5	Nonsense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R165*	ENST00000441037.2	37	c.493	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.429605	0.96131	0.0	3.52E-4	ENSG00000166748	ENST00000441037;ENST00000421325	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3585	15.8036	0.78473	0.0:1.0:0.0:0.0	.	.	.	.	X	194;165	.	ENSP00000397173:R165X	R	+	1	2	AGBL1	84592010	1.000000	0.71417	0.995000	0.50966	0.118000	0.20060	7.080000	0.76837	2.394000	0.81467	0.561000	0.74099	CGA	rs199894757	AGBL1	-	superfamily_ARM-type_fold		0.652	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	0	0	0	48	48	17	0.00	0.00	C	NM_152336		86791006	+1	10	4	20	6	tier1	no_errors	ENST00000441037	ensembl	human	known	74_37	nonsense	33.33	40.00	SNP	1.000	T	10	20
AKAP8	10270	genome.wustl.edu	37	19	15483804	15483804	+	Missense_Mutation	SNP	G	G	A	rs374389542	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:15483804G>A	ENST00000269701.2	-	5	779	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	240					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGGCCGGCTGGGGGAGGGCCC	0.701													ENSG00000105127																									GBM(190;1671 2163 3274 27186 30476)												0													11.0	13.0	12.0					19																	15483804		2181	4288	6469	SO:0001583	missense	0			-	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.719C>T	19.37:g.15483804G>A	ENSP00000269701:p.Pro240Leu			Missense_Mutation	SNP	pfam_AKAP95	p.P240L	ENST00000269701.2	37	c.719	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	g	9.804	1.181301	0.21787	.	.	ENSG00000105127	ENST00000269701	T	0.44482	0.92	4.71	2.48	0.30137	.	0.915529	0.09225	N	0.831388	T	0.36496	0.0969	L	0.51422	1.61	0.21020	N	0.999806	B;B	0.30068	0.267;0.267	B;B	0.25140	0.058;0.058	T	0.29579	-1.0007	10	0.62326	D	0.03	-3.1375	8.6921	0.34273	0.0:0.1836:0.6539:0.1625	.	240;240	Q8NE02;O43823	.;AKAP8_HUMAN	L	240	ENSP00000269701:P240L	ENSP00000269701:P240L	P	-	2	0	AKAP8	15344804	0.980000	0.34600	0.180000	0.23079	0.202000	0.24057	1.718000	0.38001	0.661000	0.30985	0.645000	0.84053	CCC	-	AKAP8	-	NULL		0.701	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3	0	0	0	77	77	18	0.00	0.00	G	NM_005858		15483804	-1	39	9	15	3	tier1	no_errors	ENST00000269701	ensembl	human	known	74_37	missense	72.22	75.00	SNP	0.092	A	39	15
APRT	353	genome.wustl.edu	37	16	88878283	88878283	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:88878283C>T	ENST00000378364.3	-	1	69	c.25G>A	c.(25-27)Gtt>Att	p.V9I	APRT_ENST00000426324.2_Missense_Mutation_p.V9I|APRT_ENST00000563655.1_Missense_Mutation_p.V9I	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	9					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGCTGCTCAACCAGCTGCAGC	0.746													ENSG00000198931																																					0													10.0	10.0	10.0					16																	88878283		2128	4216	6344	SO:0001583	missense	0			-		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.25G>A	16.37:g.88878283C>T	ENSP00000367615:p.Val9Ile		G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.V9I	ENST00000378364.3	37	c.25	CCDS32511.1	16	.	.	.	.	.	.	.	.	.	.	C	2.740	-0.262462	0.05791	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.94613	-3.47;-2.97	3.76	2.76	0.32466	.	0.318219	0.30020	N	0.010607	D	0.84379	0.5459	N	0.12611	0.24	0.41019	D	0.985063	B;B	0.26318	0.006;0.146	B;B	0.22753	0.013;0.041	T	0.79636	-0.1721	10	0.02654	T	1	-30.5076	11.6166	0.51094	0.0:0.9086:0.0:0.0914	.	9;9	G5E9J2;P07741	.;APT_HUMAN	I	9	ENSP00000367615:V9I;ENSP00000397007:V9I	ENSP00000367615:V9I	V	-	1	0	APRT	87405784	0.144000	0.22641	0.997000	0.53966	0.176000	0.22953	1.062000	0.30555	1.921000	0.55644	0.313000	0.20887	GTT	-	APRT	-	NULL		0.746	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	HGNC	protein_coding	OTTHUMT00000430000.2	0	0	0	15	15	8	0.00	0.00	C	NM_000485		88878283	-1	19	10	13	7	tier1	no_errors	ENST00000378364	ensembl	human	known	74_37	missense	59.38	58.82	SNP	1.000	T	19	13
ARHGAP36	158763	genome.wustl.edu	37	X	130215689	130215689	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:130215689G>A	ENST00000276211.5	+	2	395	c.50G>A	c.(49-51)aGa>aAa	p.R17K	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	17					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGTGCCCCAGAATCATGCCC	0.522													ENSG00000147256																																					0													165.0	115.0	132.0					X																	130215689		2203	4300	6503	SO:0001583	missense	0			-		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.50G>A	X.37:g.130215689G>A	ENSP00000276211:p.Arg17Lys		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R17K	ENST00000276211.5	37	c.50	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252440	0.39797	.	.	ENSG00000147256	ENST00000276211	T	0.10960	2.82	4.16	0.101	0.14517	.	1.253250	0.05693	N	0.592531	T	0.05456	0.0144	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27331	-1.0077	10	0.87932	D	0	.	1.8337	0.03135	0.109:0.1736:0.3568:0.3606	.	17	Q6ZRI8	RHG36_HUMAN	K	17	ENSP00000276211:R17K	ENSP00000276211:R17K	R	+	2	0	ARHGAP36	130043370	1.000000	0.71417	0.990000	0.47175	0.931000	0.56810	0.218000	0.17622	-0.108000	0.12066	-0.351000	0.07748	AGA	-	ARHGAP36	-	NULL		0.522	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	0	0	0	51	51	49	0.00	0.00	G	NM_144967		130215689	+1	34	25	15	8	tier1	no_errors	ENST00000276211	ensembl	human	known	74_37	missense	69.39	75.76	SNP	0.987	A	34	15
BAHCC1	57597	genome.wustl.edu	37	17	79419792	79419792	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:79419792C>T	ENST00000307745.7	+	18	4360	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	MIR3186_ENST00000577404.1_RNA																							GGGGCCTGGCCGGCCGAGGAA	0.682													ENSG00000171282																																					0													14.0	21.0	19.0					17																	79419792		2050	4150	6200	SO:0001583	missense	0			-																												ENST00000307745.7:c.4360C>T	17.37:g.79419792C>T	ENSP00000303486:p.Arg1454Trp			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R1454W	ENST00000307745.7	37	c.4360		17	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672988	0.67928	.	.	ENSG00000171282	ENST00000307745	T	0.31510	1.49	4.57	3.58	0.41010	.	0.141721	0.29964	N	0.010741	T	0.55242	0.1908	M	0.81942	2.565	0.44282	D	0.997148	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.60332	-0.7284	10	0.87932	D	0	.	11.4511	0.50154	0.1799:0.8201:0.0:0.0	.	1454;1454	Q9P281;F8WBW8	BAHC1_HUMAN;.	W	1454	ENSP00000303486:R1454W	ENSP00000303486:R1454W	R	+	1	2	AC110285.1	77034387	0.275000	0.24201	0.999000	0.59377	0.481000	0.33189	0.519000	0.22862	1.114000	0.41781	0.462000	0.41574	CGG	-	RP11-1055B8.7	-	NULL		0.682	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding		0	0	0	211	211	12	0.00	0.00	C			79419792	+1	108	9	63	2	tier1	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	62.79	81.82	SNP	0.998	T	108	63
BMS1	9790	genome.wustl.edu	37	10	43281059	43281059	+	Silent	SNP	C	C	T	rs371870243		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:43281059C>T	ENST00000374518.5	+	3	369	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	102	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACAATGCCTCATTCGGAACT	0.507													ENSG00000165733																																					0								C		0,4406		0,0,2203	162.0	163.0	163.0		306	-5.2	0.9	10		163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMS1	NM_014753.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		102/1283	43281059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.306C>T	10.37:g.43281059C>T			Q5QPT5|Q86XJ9	Silent	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.L102	ENST00000374518.5	37	c.306	CCDS7199.1	10																																																																																			-	BMS1	-	superfamily_P-loop_NTPase		0.507	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	0	0	0	213	213	37	0.00	0.00	C	NM_014753		43281059	+1	72	14	45	8	tier1	no_errors	ENST00000374518	ensembl	human	known	74_37	silent	61.54	60.87	SNP	0.428	T	72	45
C1orf168	199920	genome.wustl.edu	37	1	57184730	57184730	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:57184730G>A	ENST00000343433.6	-	0	2881					NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AAAATGATGGGTGAATTTAGG	0.254													ENSG00000187889																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.*614C>T	1.37:g.57184730G>A			Q63HM3|Q6ZUY6	R	SNP	-	NULL	ENST00000343433.6	37	NULL	CCDS30729.1	1																																																																																			-	C1orf168	-	-		0.254	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	0	0	0	85	85	30	0.00	0.00	G	NM_001004303		57184730	-1	34	17	31	6	tier1	no_errors	ENST00000493000	ensembl	human	known	74_37	rna	52.31	73.91	SNP	0.000	A	34	31
C2orf54	79919	genome.wustl.edu	37	2	241835320	241835320	+	Missense_Mutation	SNP	C	C	A	rs202161469		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:241835320C>A	ENST00000388934.4	-	1	253	c.95G>T	c.(94-96)cGt>cTt	p.R32L		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	32										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GTCCTGGGCACGCGGCGCCTC	0.697													ENSG00000172478																																					0													12.0	14.0	14.0					2																	241835320		2094	4218	6312	SO:0001583	missense	0			-	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.95G>T	2.37:g.241835320C>A	ENSP00000373586:p.Arg32Leu		B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	NULL	p.R32L	ENST00000388934.4	37	c.95	CCDS42839.1	2	.	.	.	.	.	.	.	.	.	.	C	9.035	0.988274	0.18966	.	.	ENSG00000172478	ENST00000388934;ENST00000414499;ENST00000454476	T	0.39056	1.1	5.26	3.18	0.36537	.	0.285035	0.23007	N	0.053003	T	0.30792	0.0776	L	0.32530	0.975	0.09310	N	1	P	0.43024	0.798	B	0.42087	0.375	T	0.07908	-1.0748	10	0.25751	T	0.34	.	9.0042	0.36102	0.0:0.7712:0.0:0.2288	.	32	Q08AI8	CB054_HUMAN	L	32;32;22	ENSP00000373586:R32L	ENSP00000373586:R32L	R	-	2	0	C2orf54	241483993	0.135000	0.22499	0.025000	0.17156	0.042000	0.13812	1.467000	0.35321	1.225000	0.43566	0.561000	0.74099	CGT	-	C2orf54	-	NULL		0.697	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C2orf54	HGNC	protein_coding	OTTHUMT00000324353.1	0	0	0	71	71	20	0.00	0.00	C	NM_024861, NM_001085437		241835320	-1	22	7	39	2	tier1	no_errors	ENST00000388934	ensembl	human	known	74_37	missense	36.07	77.78	SNP	0.003	A	22	39
C9orf142	286257	genome.wustl.edu	37	9	139887192	139887192	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139887192C>T	ENST00000371620.3	+	2	206				C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142							extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACACCCCTCCTTGCAGTGCA	0.652													ENSG00000148362																																					0													4.0	5.0	4.0					9																	139887192		2043	4075	6118	SO:0001627	intron_variant	0			-	BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.180+40C>T	9.37:g.139887192C>T			Q8IY19	R	SNP	-	NULL	ENST00000371620.3	37	NULL	CCDS7020.1	9																																																																																			-	C9orf142	-	-		0.652	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf142	HGNC	protein_coding	OTTHUMT00000055255.1	0	0	0	33	33	33	0.00	0.00	C	NM_183241		139887192	+1	16	19	5	9	tier1	no_errors	ENST00000468484	ensembl	human	known	74_37	rna	76.19	67.86	SNP	0.000	T	16	5
CILP2	148113	genome.wustl.edu	37	19	19655601	19655601	+	Silent	SNP	C	C	T	rs368728030		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:19655601C>T	ENST00000291495.5	+	8	2332	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	CILP2_ENST00000586018.1_Silent_p.F755F	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	749						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACGACAAGTTCACCCCCAGCG	0.682													ENSG00000160161																																					0													17.0	19.0	18.0					19																	19655601		2190	4277	6467	SO:0001819	synonymous_variant	0			-	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2247C>T	19.37:g.19655601C>T			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.F749	ENST00000291495.5	37	c.2247	CCDS12405.1	19																																																																																			-	CILP2	-	NULL		0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	0	0	0	8	8	18	0.00	0.00	C	NM_153221		19655601	+1	7	7	1	2	tier1	no_errors	ENST00000291495	ensembl	human	known	74_37	silent	87.50	77.78	SNP	0.619	T	7	1
DDX3X	1654	genome.wustl.edu	37	X	41206162	41206163	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:41206162_41206163TT>AA	ENST00000399959.2	+	15	2521_2522	c.1666_1667TT>AA	c.(1666-1668)TTg>AAg	p.L556K	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000457138.2_Missense_Mutation_p.L540K	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	556	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TACTAAGGATTTGTTGGATCTT	0.381										HNSCC(61;0.18)			ENSG00000215301																																					0																																										SO:0001583	missense	0			-	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	Exception_encountered	X.37:g.41206162_41206163delinsAA	ENSP00000382840:p.Leu556Lys		A8K538|B4E3E8|O15536	Missense_Mutation|Nonsense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif	p.L556M|p.L556*	ENST00000399959.2	37	c.1666|c.1667	CCDS43931.1	X																																																																																			-	DDX3X	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.381	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	0	0	0	58	58	22	0.00	0.00	T	NM_024005		41206162|41206163	+1	40	11|10	18|19	5	tier1	no_errors	ENST00000399959	ensembl	human	known	74_37	missense|nonsense	68.97|67.80	68.75|66.67	SNP	1.000	A	40	18
DFNB31	25861	genome.wustl.edu	37	9	117168795	117168795	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:117168795G>A	ENST00000362057.3	-	9	2244	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	DFNB31_ENST00000374059.3_Silent_p.P341P|DFNB31_ENST00000265134.6_Silent_p.P309P	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	692	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCTGCAGAGGGGCTTTTCA	0.657													ENSG00000095397																																					0													44.0	51.0	48.0					9																	117168795		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2076C>T	9.37:g.117168795G>A			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P692	ENST00000362057.3	37	c.2076	CCDS6806.1	9																																																																																			-	DFNB31	-	NULL		0.657	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	0	0	0	114	114	24	0.00	0.00	G	NM_015404		117168795	-1	84	13	21	2	tier1	no_errors	ENST00000362057	ensembl	human	known	74_37	silent	80.00	86.67	SNP	0.314	A	84	21
DFNB31	25861	genome.wustl.edu	37	9	117168927	117168927	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:117168927G>A	ENST00000362057.3	-	9	2112	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	DFNB31_ENST00000374059.3_Silent_p.S297S|DFNB31_ENST00000265134.6_Silent_p.S265S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	648	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATAGATGGGGGAAGAGGGCA	0.682													ENSG00000095397																																					0													57.0	60.0	59.0					9																	117168927		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1944C>T	9.37:g.117168927G>A			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S648	ENST00000362057.3	37	c.1944	CCDS6806.1	9																																																																																			-	DFNB31	-	NULL		0.682	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	0	0	0	87	87	13	0.00	0.00	G	NM_015404		117168927	-1	50	9	17	8	tier1	no_errors	ENST00000362057	ensembl	human	known	74_37	silent	74.63	52.94	SNP	1.000	A	50	17
DMBT1	1755	genome.wustl.edu	37	10	124336154	124336154	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:124336154G>A	ENST00000338354.3	+	7	629	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	DMBT1_ENST00000344338.3_Missense_Mutation_p.E175K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E175K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E175K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E175K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E175K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E175K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	175	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACACGAATCCTACCT	0.582													ENSG00000187908																									Ovarian(182;93 2026 18125 22222 38972)												0													140.0	136.0	137.0					10																	124336154		2037	4217	6254	SO:0001583	missense	0			-		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.523G>A	10.37:g.124336154G>A	ENSP00000342210:p.Glu175Lys		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.E175K	ENST00000338354.3	37	c.523		10	.	.	.	.	.	.	.	.	.	.	g	14.16	2.453881	0.43531	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.41	1.52	0.23074	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.128570	0.07188	N	0.855228	D	0.83852	0.5344	H	0.94306	3.52	0.30793	N	0.74074	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.988;1.0;1.0	D;D;D;B;D;D	0.97110	0.999;0.999;0.998;0.344;0.992;1.0	T	0.71471	-0.4583	10	0.87932	D	0	.	9.3576	0.38175	0.2362:0.0:0.7638:0.0	.	175;175;175;175;175;175	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	K	175	ENSP00000342210:E175K;ENSP00000343175:E175K;ENSP00000327747:E175K;ENSP00000357905:E175K;ENSP00000357951:E175K;ENSP00000357952:E175K;ENSP00000352593:E175K	ENSP00000331522:E175K	E	+	1	0	DMBT1	124326144	1.000000	0.71417	0.005000	0.12908	0.021000	0.10359	9.292000	0.96076	0.100000	0.17581	-0.136000	0.14681	GAA	-	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	0	0	0	145	145	20	0.00	0.00	G	NM_004406		124336154	+1	69	7	37	5	tier1	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	65.09	58.33	SNP	0.905	A	69	37
DRP2	1821	genome.wustl.edu	37	X	100507640	100507640	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:100507640T>C	ENST00000395209.3	+	17	2439	c.1912T>C	c.(1912-1914)Ttc>Ctc	p.F638L	DRP2_ENST00000538510.1_Missense_Mutation_p.F638L|DRP2_ENST00000541709.1_Missense_Mutation_p.F560L|DRP2_ENST00000402866.1_Missense_Mutation_p.F638L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	638					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCAGACCTGCTTCTTGACAGG	0.542													ENSG00000102385																																					0													127.0	92.0	104.0					X																	100507640		2203	4300	6503	SO:0001583	missense	0			-	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1912T>C	X.37:g.100507640T>C	ENSP00000378635:p.Phe638Leu		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.F638L	ENST00000395209.3	37	c.1912	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	T	35	5.514578	0.96402	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	6.08	6.08	0.98989	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.95850	3.73	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.98953	1.0795	10	0.87932	D	0	-15.4448	15.4992	0.75684	0.0:0.0:0.0:1.0	.	638	Q13474	DRP2_HUMAN	L	638;638;560;638	ENSP00000385038:F638L;ENSP00000378635:F638L;ENSP00000444752:F560L;ENSP00000441051:F638L	ENSP00000378635:F638L	F	+	1	0	DRP2	100394296	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.044000	0.60594	0.486000	0.48141	TTC	-	DRP2	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_Znf_ZZ		0.542	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	0	0	0	31	31	57	0.00	0.00	T	NM_001939		100507640	+1	15	14	9	5	tier1	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	62.50	73.68	SNP	1.000	C	15	9
ELFN1	392617	genome.wustl.edu	37	7	1785520	1785520	+	Missense_Mutation	SNP	G	G	A	rs540684381		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:1785520G>A	ENST00000424383.2	+	3	1775	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	ELFN1_ENST00000541472.1_Missense_Mutation_p.V430M|ELFN1_ENST00000561626.1_Missense_Mutation_p.V430M			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	430					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						CTTCGGCATGGTGCTGGTGCT	0.697													ENSG00000225968	G|||	1	0.000199681	0.0	0.0	5008	,	,		14887	0.0		0.0	False		,,,				2504	0.001																0													26.0	25.0	25.0					7																	1785520		692	1591	2283	SO:0001583	missense	0			-		CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1288G>A	7.37:g.1785520G>A	ENSP00000456548:p.Val430Met		H3BS57	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V430M	ENST00000424383.2	37	c.1288	CCDS59046.1	7																																																																																			-	ELFN1	-	NULL		0.697	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	0	0	0	37	37	26	0.00	0.00	G	NM_001128636		1785520	+1	12	4	19	6	tier1	no_errors	ENST00000424383	ensembl	human	known	74_37	missense	38.71	40.00	SNP	1.000	A	12	19
LOC102723968	102723968	genome.wustl.edu	37	13	64413265	64413265	+	lincRNA	SNP	A	A	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:64413265A>G	ENST00000607822.1	-	0	2096				RP11-394A14.4_ENST00000606894.1_lincRNA																							aatctgccgaaggcaggtacc	0.527													ENSG00000219926																																					0																																												0			-																													13.37:g.64413265A>G				R	SNP	-	NULL	ENST00000607822.1	37	NULL		13																																																																																			-	RP11-394A14.2	-	-		0.527	RP11-394A14.2-002	KNOWN	basic	lincRNA	ENSG00000219926	Clone_based_vega_gene	lincRNA	OTTHUMT00000471084.1	0	0	0	63	63	12	0.00	0.00	A			64413265	-1	13	2	30	9	tier1	no_errors	ENST00000606050	ensembl	human	known	74_37	rna	30.23	18.18	SNP	0.016	G	13	30
CXorf40A	91966	genome.wustl.edu	37	X	148631091	148631091	+	IGR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:148631091C>T	ENST00000441248.1	+	0	2411				CXorf40A_ENST00000422892.2_3'UTR|CXorf40A_ENST00000434353.2_3'UTR|RP5-937E21.8_ENST00000431993.1_RNA|CXorf40A_ENST00000514208.1_3'UTR			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A											breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCTCCATCATCGTTCCAGCTC	0.493													ENSG00000225261																																					0																																										SO:0001628	intergenic_variant	0			-	AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622		X.37:g.148631091C>T			A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	R	SNP	-	NULL	ENST00000441248.1	37	NULL	CCDS14687.1	X																																																																																			-	RP5-937E21.8	-	-		0.493	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225261	Clone_based_vega_gene	protein_coding	OTTHUMT00000058699.3	0	0	0	25	25	22	0.00	0.00	C	NM_178124		148631091	-1	11	14	5	7	tier1	no_errors	ENST00000431993	ensembl	human	known	74_37	rna	68.75	66.67	SNP	0.002	T	11	5
PTOV1	53635	genome.wustl.edu	37	19	50360227	50360227	+	Intron	SNP	C	C	T	rs369577757		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:50360227C>T	ENST00000601675.1	+	6	662				AC018766.6_ENST00000601211.1_RNA|MIR4749_ENST00000578197.1_RNA|AC018766.5_ENST00000593654.1_RNA|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000598325.1_Intron|PTOV1_ENST00000600603.1_Intron|PTOV1_ENST00000601638.1_Intron|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000391842.1_Intron|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000599732.1_Intron|PTOV1_ENST00000221557.9_Intron			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CCGCGGCCCCCGCAGGCGGGC	0.657													ENSG00000269352	C|||	1	0.000199681	0.0	0.0	5008	,	,		13003	0.0		0.0	False		,,,				2504	0.001																0													61.0	62.0	62.0					19																	50360227		2203	4300	6503	SO:0001627	intron_variant	0			-	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.559-5C>T	19.37:g.50360227C>T			Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	R	SNP	-	NULL	ENST00000601675.1	37	NULL	CCDS12782.1	19																																																																																			-	AC018766.5	-	-		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	ENSG00000269352	Clone_based_vega_gene	protein_coding	OTTHUMT00000465347.1	0	0	0	64	64	5	0.00	0.00	C	NM_017432		50360227	-1	16	4	41	0	tier1	no_errors	ENST00000593654	ensembl	human	known	74_37	rna	28.07	100.00	SNP	0.020	T	16	41
EPN3	55040	genome.wustl.edu	37	17	48618324	48618324	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:48618324C>T	ENST00000268933.3	+	7	1729	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	EPN3_ENST00000537145.1_Missense_Mutation_p.P412S|EPN3_ENST00000541226.1_3'UTR|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	384	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGCTGGGCCCCCCACCACAGA	0.677													ENSG00000049283																																					0													22.0	26.0	25.0					17																	48618324		2202	4300	6502	SO:0001583	missense	0			-	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1150C>T	17.37:g.48618324C>T	ENSP00000268933:p.Pro384Ser		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.P412S	ENST00000268933.3	37	c.1234	CCDS11570.1	17	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292418	0.23564	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.23950	1.88;1.88	5.17	4.19	0.49359	.	0.650760	0.15446	N	0.261927	T	0.37489	0.1005	L	0.54323	1.7	0.80722	D	1	D;D;B	0.71674	0.997;0.998;0.029	P;D;B	0.66351	0.879;0.943;0.028	T	0.08351	-1.0726	10	0.07030	T	0.85	-25.7739	11.085	0.48082	0.0:0.9128:0.0:0.0872	.	412;412;384	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	S	384;412;412	ENSP00000268933:P384S;ENSP00000439512:P412S	ENSP00000268933:P384S	P	+	1	0	EPN3	45973323	0.000000	0.05858	0.531000	0.27976	0.209000	0.24338	-0.187000	0.09656	2.409000	0.81822	0.561000	0.74099	CCC	-	EPN3	-	NULL		0.677	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1	0	0	0	74	74	13	0.00	0.00	C	NM_017957		48618324	+1	45	5	20	3	tier1	no_errors	ENST00000537145	ensembl	human	known	74_37	missense	69.23	62.50	SNP	0.466	T	45	20
ESRRA	2101	genome.wustl.edu	37	11	64081798	64081798	+	Missense_Mutation	SNP	C	C	T	rs527493990		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:64081798C>T	ENST00000405666.1	+	4	764	c.530C>T	c.(529-531)cCt>cTt	p.P177L	ESRRA_ENST00000406310.1_Missense_Mutation_p.P177L|ESRRA_ENST00000000442.6_Missense_Mutation_p.P177L	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	177					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGCCCCTTCCCTGCTGGGCCC	0.677													ENSG00000173153	C|||	1	0.000199681	0.0008	0.0	5008	,	,		14263	0.0		0.0	False		,,,				2504	0.0																0													12.0	19.0	17.0					11																	64081798		1879	4084	5963	SO:0001583	missense	0			-	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.530C>T	11.37:g.64081798C>T	ENSP00000384851:p.Pro177Leu		Q14514	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P177L	ENST00000405666.1	37	c.530	CCDS41667.1	11	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747756	0.69533	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	D;D;D;D	0.92595	-3.0;-3.07;-1.75;-3.07	3.99	3.99	0.46301	Nuclear hormone receptor, ligand-binding (1);	0.203652	0.42964	D	0.000627	D	0.86451	0.5936	N	0.01874	-0.695	0.58432	D	0.999998	P;D	0.64830	0.952;0.994	P;P	0.62885	0.754;0.908	D	0.85507	0.1195	10	0.25751	T	0.34	.	11.7985	0.52114	0.0:1.0:0.0:0.0	.	177;177	P11474-2;P11474	.;ERR1_HUMAN	L	177;177;34;177	ENSP00000385971:P177L;ENSP00000000442:P177L;ENSP00000439896:P34L;ENSP00000384851:P177L	ENSP00000000442:P177L	P	+	2	0	ESRRA	63838374	0.996000	0.38824	0.998000	0.56505	0.988000	0.76386	3.813000	0.55636	2.232000	0.73038	0.462000	0.41574	CCT	-	ESRRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.677	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ESRRA	HGNC	protein_coding	OTTHUMT00000319304.1	0	0	0	81	81	14	0.00	0.00	C	NM_004451		64081798	+1	8	2	49	5	tier1	no_errors	ENST00000000442	ensembl	human	known	74_37	missense	14.04	28.57	SNP	0.999	T	8	49
FAM214B	80256	genome.wustl.edu	37	9	35107786	35107786	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35107786G>A	ENST00000378561.1	-	2	3541	c.486C>T	c.(484-486)tcC>tcT	p.S162S	FAM214B_ENST00000603301.1_Silent_p.S162S|FAM214B_ENST00000378557.1_Silent_p.S162S|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000605244.1_Silent_p.S162S|FAM214B_ENST00000488109.2_Silent_p.S162S|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Silent_p.S162S|FAM214B_ENST00000378554.2_Silent_p.S162S			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	162						nucleus (GO:0005634)											CTGGATCTGGGGAGGCCCAGT	0.607													ENSG00000005238																																					0													34.0	42.0	39.0					9																	35107786		2191	4300	6491	SO:0001819	synonymous_variant	0			-	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.486C>T	9.37:g.35107786G>A			B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	NULL	p.S162	ENST00000378561.1	37	c.486	CCDS6578.1	9																																																																																			-	FAM214B	-	NULL		0.607	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	0	0	0	118	118	12	0.00	0.00	G	NM_025182		35107786	-1	94	14	72	7	tier1	no_errors	ENST00000322813	ensembl	human	known	74_37	silent	56.63	66.67	SNP	1.000	A	94	72
FAM47C	442444	genome.wustl.edu	37	X	37027774	37027774	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:37027774C>T	ENST00000358047.3	+	1	1343	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	431										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGGAGCCTCCCAAGACTCG	0.607													ENSG00000198173																																					0													61.0	60.0	60.0					X																	37027774		2202	4300	6502	SO:0001583	missense	0			-	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1291C>T	X.37:g.37027774C>T	ENSP00000367913:p.Pro431Ser		Q6ZU46	Missense_Mutation	SNP	NULL	p.P431S	ENST00000358047.3	37	c.1291	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	14.24	2.477558	0.44044	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	1.4	1.4	0.22301	.	.	.	.	.	T	0.39963	0.1098	M	0.76574	2.34	0.18873	N	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.22941	-1.0202	9	0.21014	T	0.42	.	8.5665	0.33543	0.0:1.0:0.0:0.0	.	431	Q5HY64	FA47C_HUMAN	S	431	ENSP00000367913:P431S	ENSP00000367913:P431S	P	+	1	0	FAM47C	36937695	0.001000	0.12720	0.027000	0.17364	0.016000	0.09150	0.422000	0.21296	0.601000	0.29879	0.413000	0.27773	CCC	-	FAM47C	-	NULL		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	0	0	0	102	102	26	0.00	0.00	C	NM_001013736		37027774	+1	54	12	25	6	tier1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	68.35	66.67	SNP	0.435	T	54	25
FBLN2	2199	genome.wustl.edu	37	3	13612323	13612323	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:13612323C>T	ENST00000295760.7	+	2	537	c.468C>T	c.(466-468)ccC>ccT	p.P156P	FBLN2_ENST00000492059.1_Silent_p.P156P|FBLN2_ENST00000535798.1_Silent_p.P182P|FBLN2_ENST00000404922.3_Silent_p.P156P	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	156	N.|Subdomain NA (Cys-rich).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACCTGCCGCCCTGCCGGGCCT	0.687													ENSG00000163520																																					0													11.0	15.0	14.0					3																	13612323		2122	4219	6341	SO:0001819	synonymous_variant	0			-	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.468C>T	3.37:g.13612323C>T			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.P156	ENST00000295760.7	37	c.468	CCDS46762.1	3																																																																																			-	FBLN2	-	NULL		0.687	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	0	0	0	78	78	15	0.00	0.00	C	NM_001004019		13612323	+1	47	4	48	7	tier1	no_errors	ENST00000404922	ensembl	human	known	74_37	silent	49.47	36.36	SNP	0.002	T	47	48
FIBCD1	84929	genome.wustl.edu	37	9	133779526	133779526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:133779526C>T	ENST00000372338.4	-	7	1553	c.1311G>A	c.(1309-1311)tgG>tgA	p.W437*	FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Nonsense_Mutation_p.W279*|FIBCD1_ENST00000448616.1_Nonsense_Mutation_p.W437*	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	437	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TCCAGGAGGACCACTCCACGC	0.637													ENSG00000130720																																					0													90.0	82.0	85.0					9																	133779526		2203	4300	6503	SO:0001587	stop_gained	0			-	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1311G>A	9.37:g.133779526C>T	ENSP00000361413:p.Trp437*		A3KFK0|Q6UXK6|Q96SJ7	Nonsense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.W437*	ENST00000372338.4	37	c.1311	CCDS6937.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.391252	0.97529	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	.	.	.	4.78	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7534	0.51862	0.0:0.9127:0.0:0.0873	.	.	.	.	X	437;437;279	.	ENSP00000361412:W279X	W	-	3	0	FIBCD1	132769347	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.995000	0.70631	1.007000	0.39238	0.455000	0.32223	TGG	-	FIBCD1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.637	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	HGNC	protein_coding	OTTHUMT00000054687.2	0	0	0	70	70	25	0.00	0.00	C	NM_032843		133779526	-1	40	11	17	7	tier1	no_errors	ENST00000372338	ensembl	human	known	74_37	nonsense	70.18	61.11	SNP	1.000	T	40	17
FRMPD2	143162	genome.wustl.edu	37	10	49371643	49371643	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:49371643C>T	ENST00000374201.3	-	28	3911	c.3609G>A	c.(3607-3609)ctG>ctA	p.L1203L	FRMPD2_ENST00000474573.1_Silent_p.L155L|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Silent_p.L1178L|FRMPD2_ENST00000407470.4_Silent_p.L1171L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1203					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCTCTTGATCCAGGATGGGGC	0.517													ENSG00000170324																																					0													2.0	2.0	2.0					10																	49371643		1218	2751	3969	SO:0001819	synonymous_variant	0			-	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3609G>A	10.37:g.49371643C>T			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.L1203	ENST00000374201.3	37	c.3609	CCDS31195.1	10																																																																																			-	FRMPD2	-	NULL		0.517	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	0	0	0	73	73	62	0.00	0.00	C	NM_152428		49371643	-1	44	19	18	9	tier1	no_errors	ENST00000374201	ensembl	human	known	74_37	silent	70.97	67.86	SNP	0.267	T	44	18
GADD45A	1647	genome.wustl.edu	37	1	68151423	68151424	+	Intron	DNP	GG	GG	AA			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:68151423_68151424GG>AA	ENST00000370986.4	+	1	478				GADD45A_ENST00000370985.3_Intron|GADD45A_ENST00000460575.1_Intron	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha						activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|signal transduction in response to DNA damage (GO:0042770)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter binding (GO:0001047)			lung(2)|ovary(2)	4						GAGCCCCGCCGGGGCCTTTGCA	0.698													ENSG00000116717																																					0																																										SO:0001627	intron_variant	0			-	M60974	CCDS640.1, CCDS55605.1, CCDS72806.1	1p31.2	2010-08-27			ENSG00000116717	ENSG00000116717			4095	protein-coding gene	gene with protein product		126335		DDIT1		1990262, 8226988	Standard	NM_001924		Approved	GADD45	uc001ddz.2	P24522	OTTHUMG00000009374	Exception_encountered	1.37:g.68151423_68151424delinsAA			Q5TCA7|Q5TCA8	R	SNP	-	NULL	ENST00000370986.4	37	NULL	CCDS640.1	1																																																																																			-	GADD45A	-	-		0.698	GADD45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45A	HGNC	protein_coding	OTTHUMT00000025988.2	0	0	0	16	16	7	0.00	0.00	G	NM_001924		68151423|68151424	+1	9	6	8	2	tier1	no_errors	ENST00000484245	ensembl	human	putative	74_37	rna	52.94	75.00	SNP	0.000|0.005	A	9	8
GAL3ST1	9514	genome.wustl.edu	37	22	30951978	30951978	+	Silent	SNP	G	G	A	rs542690458		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:30951978G>A	ENST00000402321.1	-	3	551	c.234C>T	c.(232-234)atC>atT	p.I78I	GAL3ST1_ENST00000406361.1_Silent_p.I78I|GAL3ST1_ENST00000402369.1_Silent_p.I78I|GAL3ST1_ENST00000338911.5_Silent_p.I78I|GAL3ST1_ENST00000401975.1_Silent_p.I78I|GAL3ST1_ENST00000406955.1_Silent_p.I78I|GAL3ST1_ENST00000443111.2_Silent_p.I78I			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	78					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCAAGAACACGATGTTGCGCC	0.667													ENSG00000128242	G|||	1	0.000199681	0.0	0.0	5008	,	,		13523	0.0		0.001	False		,,,				2504	0.0																0													63.0	58.0	59.0					22																	30951978		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.234C>T	22.37:g.30951978G>A			Q96C63	Silent	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.I78	ENST00000402321.1	37	c.234	CCDS13879.1	22																																																																																			-	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase		0.667	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	0	0	0	35	35	11	0.00	0.00	G	NM_004861		30951978	-1	15	2	33	2	tier1	no_errors	ENST00000338911	ensembl	human	known	74_37	silent	31.25	50.00	SNP	1.000	A	15	33
GALR1	2587	genome.wustl.edu	37	18	74963119	74963119	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:74963119C>T	ENST00000299727.3	+	1	615	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	205					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGTGCACCTTCGTCTTCGGCT	0.687													ENSG00000166573																																					0													69.0	72.0	71.0					18																	74963119		2200	4295	6495	SO:0001819	synonymous_variant	0			-	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.615C>T	18.37:g.74963119C>T			Q4VBL7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt	p.F205	ENST00000299727.3	37	c.615	CCDS12012.1	18																																																																																			-	GALR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt		0.687	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR1	HGNC	protein_coding	OTTHUMT00000256362.1	0	0	0	26	26	17	0.00	0.00	C			74963119	+1	17	7	14	0	tier1	no_errors	ENST00000299727	ensembl	human	known	74_37	silent	54.84	100.00	SNP	1.000	T	17	14
GIPC1	10755	genome.wustl.edu	37	19	14593636	14593636	+	Silent	SNP	G	G	A	rs541900200		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:14593636G>A	ENST00000393033.4	-	4	422	c.153C>T	c.(151-153)ccC>ccT	p.P51P	GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000586027.1_Silent_p.P51P|GIPC1_ENST00000345425.2_Silent_p.P51P|GIPC1_ENST00000591349.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	51	Poly-Pro.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCAGGGCTGGGGGAGGGGGGG	0.721													ENSG00000123159																									Pancreas(33;78 923 2910 41023 52850)												0													7.0	7.0	7.0					19																	14593636		2158	4219	6377	SO:0001819	synonymous_variant	0			-	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.153C>T	19.37:g.14593636G>A			A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.P51	ENST00000393033.4	37	c.153	CCDS12310.1	19																																																																																			-	GIPC1	-	pirsf_UCP038083_PDZ		0.721	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	0	0	0	9	9	19	0.00	0.00	G			14593636	-1	10	8	5	7	tier1	no_errors	ENST00000345425	ensembl	human	known	74_37	silent	66.67	53.33	SNP	0.979	A	10	5
GPR112	139378	genome.wustl.edu	37	X	135430742	135430742	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:135430742C>T	ENST00000394143.1	+	6	5168	c.4877C>T	c.(4876-4878)tCc>tTc	p.S1626F	GPR112_ENST00000370652.1_Missense_Mutation_p.S1626F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1421F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1563F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1421F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1626					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAATGGTTTCCTCTGCTTTC	0.438													ENSG00000156920																																					0													109.0	100.0	103.0					X																	135430742		2203	4300	6503	SO:0001583	missense	0			-	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4877C>T	X.37:g.135430742C>T	ENSP00000377699:p.Ser1626Phe		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1626F	ENST00000394143.1	37	c.4877	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	13.24	2.178669	0.38511	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.75	2.75	0.32379	.	.	.	.	.	T	0.50257	0.1605	L	0.34521	1.04	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.998	D;D;D	0.83275	0.991;0.996;0.99	T	0.27938	-1.0059	9	0.87932	D	0	.	8.9833	0.35979	0.0:1.0:0.0:0.0	.	1563;1421;1626	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1626;1626;1421;1563;1421	ENSP00000377699:S1626F;ENSP00000359686:S1626F;ENSP00000416526:S1421F;ENSP00000287534:S1563F;ENSP00000377697:S1421F	ENSP00000287534:S1563F	S	+	2	0	GPR112	135258408	0.207000	0.23482	0.015000	0.15790	0.059000	0.15707	2.143000	0.42187	1.338000	0.45544	0.287000	0.19450	TCC	-	GPR112	-	NULL		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	0	0	0	11	11	35	0.00	0.00	C			135430742	+1	7	26	5	4	tier1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	58.33	86.67	SNP	0.025	T	7	5
GPR123	84435	genome.wustl.edu	37	10	134942553	134942553	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:134942553C>T	ENST00000392607.3	+	7	1657	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	GPR123_ENST00000392606.2_Silent_p.F310F|GPR123_ENST00000607359.1_Silent_p.F1126F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	407					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGGCGCCTTCGGGCACGACC	0.682													ENSG00000197177																																					0													10.0	9.0	9.0					10																	134942553		2137	4215	6352	SO:0001819	synonymous_variant	0			-	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1221C>T	10.37:g.134942553C>T			A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.F1126	ENST00000392607.3	37	c.3378	CCDS41580.1	10																																																																																			-	GPR123	-	NULL		0.682	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	0	0	0	10	10	9	0.00	0.00	C			134942553	+1	8	6	1	6	tier1	no_errors	ENST00000607359	ensembl	human	putative	74_37	silent	88.89	50.00	SNP	0.850	T	8	1
GRIK4	2900	genome.wustl.edu	37	11	120702575	120702575	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:120702575G>A	ENST00000527524.2	+	7	813	c.526G>A	c.(526-528)Gag>Aag	p.E176K	GRIK4_ENST00000438375.2_Missense_Mutation_p.E176K	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	176					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TTTAAACCTAGAGAAGCTGCT	0.602													ENSG00000149403																																					0													64.0	70.0	68.0					11																	120702575		2203	4299	6502	SO:0001583	missense	0			-	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.526G>A	11.37:g.120702575G>A	ENSP00000435648:p.Glu176Lys		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E176K	ENST00000527524.2	37	c.526	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332403	0.81801	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.83992	-1.79;-1.79	4.81	4.81	0.61882	Extracellular ligand-binding receptor (1);	0.096404	0.64402	D	0.000001	T	0.81331	0.4800	M	0.63428	1.95	0.80722	D	1	B;P	0.35714	0.106;0.517	B;B	0.32465	0.068;0.146	T	0.83021	-0.0167	10	0.52906	T	0.07	.	18.0832	0.89449	0.0:0.0:1.0:0.0	.	176;176	A6H8K8;Q16099	.;GRIK4_HUMAN	K	176	ENSP00000435648:E176K;ENSP00000404063:E176K	ENSP00000404063:E176K	E	+	1	0	GRIK4	120207785	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.255000	0.95524	2.477000	0.83638	0.561000	0.74099	GAG	-	GRIK4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	0	0	0	60	60	43	0.00	0.00	G	NM_014619		120702575	+1	30	12	32	9	tier1	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	48.39	57.14	SNP	1.000	A	30	32
H6PD	9563	genome.wustl.edu	37	1	9324307	9324307	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:9324307C>T	ENST00000377403.2	+	5	2057	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	H6PD_ENST00000602477.1_Silent_p.F596F	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	585	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGCCAGTTCCACCTGGCAC	0.682													ENSG00000049239																																					0													12.0	14.0	13.0					1																	9324307		2201	4293	6494	SO:0001819	synonymous_variant	0			-	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1755C>T	1.37:g.9324307C>T			Q4TT33|Q66I35|Q68DT3	Silent	SNP	pfam_G6P_DH_C,pfam_G6P_DH_D-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.F585	ENST00000377403.2	37	c.1755	CCDS101.1	1																																																																																			-	H6PD	-	tigrfam_6-phosphogluconolactonase_DevB		0.682	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2	0	0	0	71	71	9	0.00	0.00	C	NM_004285		9324307	+1	12	3	55	7	tier1	no_errors	ENST00000377403	ensembl	human	known	74_37	silent	17.91	30.00	SNP	1.000	T	12	55
HSPB7	27129	genome.wustl.edu	37	1	16344400	16344400	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:16344400G>A	ENST00000311890.9	-	1	885	c.59C>T	c.(58-60)tCt>tTt	p.S20F	HSPB7_ENST00000487046.1_Missense_Mutation_p.S20F|HSPB7_ENST00000375718.4_Intron|HSPB7_ENST00000406363.2_Missense_Mutation_p.S20F|HSPB7_ENST00000411503.1_Missense_Mutation_p.S20F|HSPB7_ENST00000545268.1_Missense_Mutation_p.S20F	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	20	Poly-Ser.|Required for localization to SC35 splicing speckles.				regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ggaggaggaagaggaagagga	0.652													ENSG00000173641																																					0													45.0	44.0	44.0					1																	16344400		2203	4300	6503	SO:0001583	missense	0			-	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.59C>T	1.37:g.16344400G>A	ENSP00000310111:p.Ser20Phe		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.S20F	ENST00000311890.9	37	c.59	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669498	0.47677	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375714;ENST00000487046;ENST00000406363;ENST00000545268	D;D;D;D	0.95412	-3.02;-3.02;-3.7;-3.05	3.3	3.3	0.37823	.	0.000000	0.36482	N	0.002576	D	0.90225	0.6944	N	0.24115	0.695	0.22819	N	0.998694	P;P;P;B	0.48911	0.917;0.917;0.917;0.172	P;P;P;B	0.46049	0.502;0.502;0.502;0.248	T	0.82317	-0.0517	10	0.09843	T	0.71	-5.5267	11.0613	0.47948	0.0:0.1908:0.8092:0.0	.	46;46;108;20	Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;HSPB7_HUMAN	F	20;20;108;20;20;20	ENSP00000391578:S20F;ENSP00000310111:S20F;ENSP00000419477:S20F;ENSP00000385472:S20F	ENSP00000310111:S20F	S	-	2	0	HSPB7	16216987	0.868000	0.29978	0.618000	0.29105	0.713000	0.41058	4.556000	0.60775	2.145000	0.66743	0.407000	0.27541	TCT	-	HSPB7	-	NULL		0.652	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	0	0	0	66	66	9	0.00	0.00	G	NM_014424		16344400	-1	37	14	49	8	tier1	no_errors	ENST00000487046	ensembl	human	known	74_37	missense	43.02	63.64	SNP	0.317	A	37	49
INTS1	26173	genome.wustl.edu	37	7	1533470	1533470	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:1533470C>A	ENST00000404767.3	-	15	2073	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	INTS1_ENST00000389470.4_Missense_Mutation_p.R791L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	663					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGGGAGCTCCCGGGACAGCCC	0.667													ENSG00000164880																																					0													14.0	21.0	19.0					7																	1533470		2036	4172	6208	SO:0001583	missense	0			-	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1988G>T	7.37:g.1533470C>A	ENSP00000385722:p.Arg663Leu		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.R791L	ENST00000404767.3	37	c.2372	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.591238	0.96590	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.66638	-0.22;-0.22	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	L	0.44542	1.39	0.80722	D	1	D;D	0.59357	0.964;0.985	P;P	0.59546	0.801;0.859	T	0.77645	-0.2510	10	0.72032	D	0.01	.	18.3788	0.90443	0.0:1.0:0.0:0.0	.	791;663	A4D213;Q8N201	.;INT1_HUMAN	L	663;791	ENSP00000385722:R663L;ENSP00000374121:R791L	ENSP00000374121:R791L	R	-	2	0	INTS1	1499996	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	7.758000	0.85224	2.324000	0.78689	0.561000	0.74099	CGG	-	INTS1	-	NULL		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	0	0	0	88	88	14	0.00	0.00	C			1533470	-1	63	9	45	7	tier1	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	58.33	56.25	SNP	0.984	A	63	45
KIAA1244	57221	genome.wustl.edu	37	6	138612978	138612978	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:138612978C>T	ENST00000251691.4	+	19	3322	c.3156C>T	c.(3154-3156)ctC>ctT	p.L1052L		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGCTGGCCTCCTTGGGGACC	0.692													ENSG00000112379																																					0													17.0	18.0	17.0					6																	138612978		2198	4292	6490	SO:0001819	synonymous_variant	0			-	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3156C>T	6.37:g.138612978C>T				Silent	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.L1052	ENST00000251691.4	37	c.3156	CCDS5189.2	6																																																																																			-	KIAA1244	-	superfamily_ARM-type_fold		0.692	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	0	0	0	21	21	9	0.00	0.00	C	NM_020340		138612978	+1	10	2	14	8	tier1	no_errors	ENST00000251691	ensembl	human	known	74_37	silent	41.67	20.00	SNP	0.039	T	10	14
CCDC183	84960	genome.wustl.edu	37	9	139699987	139699987	+	Intron	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139699987C>A	ENST00000338005.6	+	9	983				RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984_ENST00000371682.3_Intron|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCCTGGCACTCCCGGAGCATG	0.617													ENSG00000228544																																					0																																										SO:0001627	intron_variant	0			-																												ENST00000338005.6:c.948+78C>A	9.37:g.139699987C>A			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	R	SNP	-	NULL	ENST00000338005.6	37	NULL	CCDS43906.1	9																																																																																			-	KIAA1984-AS1	-	-		0.617	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984-AS1	HGNC	protein_coding	OTTHUMT00000354899.1	0	0	0	14	14	41	0.00	0.00	C			139699987	-1	12	20	0	6	tier1	no_errors	ENST00000414656	ensembl	human	known	74_37	rna	100.00	76.92	SNP	0.008	A	12	0
KRT17	3872	genome.wustl.edu	37	17	39783067	39783067	+	5'Flank	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:39783067G>A	ENST00000311208.8	-	0	0				KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17						epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GCGAGGCCAGGGACAAGGAGT	0.647													ENSG00000214514																									Pancreas(92;1242 2086 39193 50508)												0																																										SO:0001631	upstream_gene_variant	0			-	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505		17.37:g.39783067G>A	Exception_encountered		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	R	SNP	-	NULL	ENST00000311208.8	37	NULL	CCDS11402.1	17																																																																																			-	KRT42P	-	-		0.647	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT42P	HGNC	protein_coding	OTTHUMT00000257460.1	0	0	0	96	96	15	0.00	0.00	G	NM_000422		39783067	-1	31	4	27	2	tier1	no_errors	ENST00000398469	ensembl	human	known	74_37	rna	53.45	66.67	SNP	0.003	A	31	27
LCN15	389812	genome.wustl.edu	37	9	139658890	139658890	+	Silent	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139658890C>A	ENST00000316144.5	-	1	75	c.51G>T	c.(49-51)acG>acT	p.T17T	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	17					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						CAGCCTGAGCCGTGGGCGCCC	0.657													ENSG00000177984																																					0													53.0	47.0	49.0					9																	139658890		2203	4299	6502	SO:0001819	synonymous_variant	0			-		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.51G>T	9.37:g.139658890C>A				Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.T17	ENST00000316144.5	37	c.51	CCDS7006.1	9																																																																																			-	LCN15	-	NULL		0.657	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	HGNC	protein_coding	OTTHUMT00000055114.2	0	0	0	29	29	30	0.00	0.00	C	NM_203347		139658890	-1	17	11	10	2	tier1	no_errors	ENST00000316144	ensembl	human	known	74_37	silent	62.96	84.62	SNP	0.000	A	17	10
LCN15	389812	genome.wustl.edu	37	9	139658892	139658892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:139658892delT	ENST00000316144.5	-	1	73	c.49delA	c.(49-51)acgfs	p.T17fs	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	17					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						GCCTGAGCCGTGGGCGCCCAG	0.662													ENSG00000177984																																					0													54.0	47.0	49.0					9																	139658892		2203	4299	6502	SO:0001589	frameshift_variant	0					CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.49delA	9.37:g.139658892delT	ENSP00000313833:p.Thr17fs			Frame_Shift_Del	DEL	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.T17fs	ENST00000316144.5	37	c.49	CCDS7006.1	9																																																																																				LCN15	-	NULL		0.662	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	HGNC	protein_coding	OTTHUMT00000055114.2	0	0	0	31	31	33	0.00	0.00	T	NM_203347		139658892	-1	15	11	13	2	tier1	no_errors	ENST00000316144	ensembl	human	known	74_37	frame_shift_del	53.57	84.62	DEL	0.000	-	15	13
ZEB1	6935	genome.wustl.edu	37	10	31651797	31651797	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:31651797C>T	ENST00000320985.10	+	1	168				ZEB1_ENST00000542815.3_Intron|RP11-192P3.5_ENST00000359888.2_RNA|ZEB1_ENST00000361642.5_Intron|ZEB1_ENST00000559858.1_Intron|ZEB1_ENST00000560721.2_Intron|RP11-192P3.5_ENST00000607134.1_RNA|ZEB1_ENST00000446923.2_Intron			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1						cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTCTTAGTCTCCTGAATTTTG	0.532													ENSG00000196960																									Ovarian(40;423 959 14296 36701 49589)												0																																										SO:0001627	intron_variant	0			-	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.58+43576C>T	10.37:g.31651797C>T			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	R	SNP	-	NULL	ENST00000320985.10	37	NULL	CCDS7169.1	10																																																																																			-	RP11-192P3.5	-	-		0.532	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100505502	Clone_based_vega_gene	protein_coding	OTTHUMT00000419083.2	0	0	0	104	104	7	0.00	0.00	C	NM_030751		31651797	-1	32	4	74	7	tier1	no_errors	ENST00000359888	ensembl	human	known	74_37	rna	30.19	36.36	SNP	0.093	T	32	74
ZNF726	730087	genome.wustl.edu	37	19	24102982	24102982	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:24102982G>A	ENST00000531821.2	+	0	437				CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Intron|ZNF726_ENST00000334589.5_Intron|ZNF726_ENST00000594466.1_Intron|ZNF726_ENST00000525354.2_Intron|ZNF726_ENST00000322487.7_Intron			A6NNF4	ZN726_HUMAN	zinc finger protein 726						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTCCAAAGGAAACCGTTTC	0.393													ENSG00000269289																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000531821.2:c.*90G>A	19.37:g.24102982G>A			M0R0X8|Q86Y87	R	SNP	-	NULL	ENST00000531821.2	37	NULL		19																																																																																			-	CTB-92J24.3	-	-		0.393	ZNF726-001	KNOWN	basic	protein_coding	LOC100505851	Clone_based_vega_gene	protein_coding	OTTHUMT00000395558.2	0	0	0	42	42	66	0.00	0.00	G	XM_001715134		24102982	-1	16	27	8	9	tier1	no_errors	ENST00000596326	ensembl	human	known	74_37	rna	66.67	75.00	SNP	0.002	A	16	8
BMS1P17	101101776	genome.wustl.edu	37	14	19685454	19685454	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:19685454C>T	ENST00000418499.3	+	0	2565																											GCCGGGGCTCCTGCCCGGAAC	0.716													ENSG00000225210																																					0													1.0	3.0	2.0					14																	19685454		71	540	611			0			-																													14.37:g.19685454C>T				R	SNP	-	NULL	ENST00000418499.3	37	NULL		14																																																																																			-	AL589743.1	-	-		0.716	AL589743.1-003	KNOWN	basic	lincRNA	LOC440157	Clone_based_vega_gene	lincRNA	OTTHUMT00000317887.3	0	0	0	106	106	11	0.00	0.00	C			19685454	+1	12	2	40	9	tier1	no_errors	ENST00000418499	ensembl	human	known	74_37	rna	23.08	18.18	SNP	0.007	T	12	40
MAGEC1	9947	genome.wustl.edu	37	X	140994314	140994314	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140994314T>C	ENST00000285879.4	+	4	1410	c.1124T>C	c.(1123-1125)aTt>aCt	p.I375T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	375										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCCAGATTCCTGGGAGC	0.483										HNSCC(15;0.026)			ENSG00000155495																																					0													104.0	109.0	107.0					X																	140994314		2201	4289	6490	SO:0001583	missense	0			-	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1124T>C	X.37:g.140994314T>C	ENSP00000285879:p.Ile375Thr		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.I375T	ENST00000285879.4	37	c.1124	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	t	0.228	-1.023356	0.02061	.	.	ENSG00000155495	ENST00000285879	T	0.02863	4.13	.	.	.	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.39706	0.307	T	0.47560	-0.9108	8	0.72032	D	0.01	.	4.5609	0.12160	0.0:5.0E-4:0.0:0.9995	.	375	O60732	MAGC1_HUMAN	T	375	ENSP00000285879:I375T	ENSP00000285879:I375T	I	+	2	0	MAGEC1	140821980	0.017000	0.18338	0.023000	0.16930	0.023000	0.10783	-0.678000	0.05209	0.127000	0.18452	0.126000	0.15802	ATT	-	MAGEC1	-	NULL		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	0	0	0	129	129	40	0.00	0.00	T	NM_005462		140994314	+1	83	22	44	4	tier1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	65.35	84.62	SNP	0.004	C	83	44
MAP2K7	5609	genome.wustl.edu	37	19	7975656	7975657	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:7975656_7975657CC>TT	ENST00000397979.3	+	6	697_698	c.643_644CC>TT	c.(643-645)CCc>TTc	p.P215F	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Missense_Mutation_p.P231F|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P215F|MAP2K7_ENST00000545011.1_Missense_Mutation_p.P257F	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGGCCCCATCCCCGAGCGCATT	0.663													ENSG00000076984																																					0																																										SO:0001583	missense	0			-	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	Exception_encountered	19.37:g.7975656_7975657delinsTT	ENSP00000381066:p.Pro215Phe		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P257S|p.P257L	ENST00000397979.3	37	c.769|c.770	CCDS42491.1	19																																																																																			-	MAP2K7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.663	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	HGNC	protein_coding	OTTHUMT00000267980.1	0	0	0	55	55	19	0.00	0.00	C			7975656|7975657	+1	44|46	29	8|7	8|9	tier1	no_errors	ENST00000545011	ensembl	human	known	74_37	missense	84.62|86.79	78.38|76.32	SNP	1.000	T	44	7
MXRA5	25878	genome.wustl.edu	37	X	3241341	3241341	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:3241341G>A	ENST00000217939.6	-	5	2539	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	795						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCCCTTAGGGAGATTTTTCC	0.463													ENSG00000101825																																					0													130.0	125.0	127.0					X																	3241341		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2385C>T	X.37:g.3241341G>A			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L795	ENST00000217939.6	37	c.2385	CCDS14124.1	X																																																																																			-	MXRA5	-	NULL		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	0	0	0	35	35	29	0.00	0.00	G	NM_015419		3241341	-1	20	29	9	3	tier1	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	68.97	90.62	SNP	0.779	A	20	9
GABRE	2564	genome.wustl.edu	37	X	151128158	151128158	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:151128158C>T	ENST00000370328.3	-	6	838				MIR224_ENST00000384889.1_RNA|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000370325.1_Intron|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000393914.3_Intron	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCAGTTTCCTCTGCAAACA	0.418													ENSG00000207753																																					0													118.0	98.0	104.0					X																	151128158		1568	3582	5150	SO:0001627	intron_variant	0			-	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.784+152G>A	X.37:g.151128158C>T			E7ET93|O15345|O15346|Q6PCD2|Q99520	R	SNP	-	NULL	ENST00000370328.3	37	NULL	CCDS14703.1	X																																																																																			-	MIR452	-	-		0.418	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR452	HGNC	protein_coding	OTTHUMT00000060903.1	0	0	0	43	43	11	0.00	0.00	C	NM_004961, NM_021990, NM_021984		151128158	-1	32	11	5	5	tier1	no_errors	ENST00000385020	ensembl	human	known	74_37	rna	86.49	68.75	SNP	1.000	T	32	5
MYOCD	93649	genome.wustl.edu	37	17	12656030	12656030	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:12656030C>T	ENST00000343344.4	+	10	1425	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.F379F|MYOCD_ENST00000425538.1_Silent_p.F475F			Q8IZQ8	MYCD_HUMAN	myocardin	475	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGGACACCTTCAATGATGCCT	0.627													ENSG00000141052																																					0													68.0	65.0	66.0					17																	12656030		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1425C>T	17.37:g.12656030C>T			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.F475	ENST00000343344.4	37	c.1425	CCDS11163.1	17																																																																																			-	MYOCD	-	NULL		0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	0	0	0	20	20	39	0.00	0.00	C	NM_153604		12656030	+1	10	18	11	9	tier1	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	47.62	66.67	SNP	1.000	T	10	11
NDUFA13	51079	genome.wustl.edu	37	19	19627015	19627015	+	5'UTR	SNP	C	C	T	rs147346438		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:19627015C>T	ENST00000507754.4	+	0	452				CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000360913.3_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000585580.3_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.R73C			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						AAGTCACTTCCGCCCGGGACC	0.607													ENSG00000186010																																					0								C		1,4405	2.1+/-5.4	0,1,2202	41.0	43.0	43.0			5.3	1.0	19	dbSNP_134	43	0,8600		0,0,4300	no	near-gene-5				0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			19627015	1,13005	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			-	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.-33C>T	19.37:g.19627015C>T			B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_GRIM-19	p.R73C	ENST00000507754.4	37	c.217	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880728	0.91740	2.27E-4	0.0	ENSG00000186010	ENST00000252576	D	0.81996	-1.56	5.3	5.3	0.74995	.	.	.	.	.	D	0.88872	0.6555	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.89894	0.4039	6	0.72032	D	0.01	.	14.5217	0.67853	0.0:1.0:0.0:0.0	.	.	.	.	C	73	ENSP00000252576:R73C	ENSP00000252576:R73C	R	+	1	0	NDUFA13	19488015	0.993000	0.37304	0.984000	0.44739	0.502000	0.33828	1.975000	0.40569	2.504000	0.84457	0.650000	0.86243	CGC	rs147346438	NDUFA13	-	NULL		0.607	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NDUFA13	HGNC	protein_coding	OTTHUMT00000367916.6	0	0	0	128	128	45	0.00	0.00	C	NM_015965		19627015	+1	61	31	28	7	tier1	no_errors	ENST00000252576	ensembl	human	known	74_37	missense	68.54	81.58	SNP	0.999	T	61	28
NFKBIL1	4795	genome.wustl.edu	37	6	31526089	31526089	+	Missense_Mutation	SNP	G	G	A	rs201985780		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:31526089G>A	ENST00000376148.4	+	4	961	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.E268K	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	283					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGGGCCCAGGGAAGAGCACCC	0.706													ENSG00000204498																																					0													10.0	9.0	9.0					6																	31526089		1488	2692	4180	SO:0001583	missense	0			-	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.847G>A	6.37:g.31526089G>A	ENSP00000365318:p.Glu283Lys		A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.E283K	ENST00000376148.4	37	c.847	CCDS4700.1	6	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.582787	0.03827	.	.	ENSG00000204498	ENST00000376146;ENST00000376148;ENST00000376145	T;T;T	0.25912	1.77;1.77;1.77	5.81	4.93	0.64822	.	0.506486	0.21899	N	0.067470	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37314	-0.9711	10	0.07813	T	0.8	-1.0985	12.1344	0.53961	0.0:0.0:0.8284:0.1716	.	260;268;283	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	K	260;283;268	ENSP00000365316:E260K;ENSP00000365318:E283K;ENSP00000365315:E268K	ENSP00000365315:E268K	E	+	1	0	NFKBIL1	31634068	0.506000	0.26139	0.993000	0.49108	0.607000	0.37147	2.588000	0.46137	1.416000	0.47057	0.563000	0.77884	GAA	rs201985780	NFKBIL1	-	NULL		0.706	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIL1	HGNC	protein_coding	OTTHUMT00000076036.3	0	0	0	89	89	10	0.00	0.00	G	NM_005007		31526089	+1	24	5	44	5	tier1	no_errors	ENST00000376148	ensembl	human	known	74_37	missense	35.29	50.00	SNP	0.460	A	24	44
NLGN4X	57502	genome.wustl.edu	37	X	5810947	5810947	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:5810947C>T	ENST00000381095.3	-	6	2989	c.2362G>A	c.(2362-2364)Ggg>Agg	p.G788R	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G788R|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G788R|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G788R|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G808R	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	788					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTGCATCCCCGTCAGTGTG	0.517													ENSG00000146938																																					0													281.0	233.0	249.0					X																	5810947		2203	4300	6503	SO:0001583	missense	0			-	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2362G>A	X.37:g.5810947C>T	ENSP00000370485:p.Gly788Arg		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G808R	ENST00000381095.3	37	c.2422	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070284	0.55539	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	3.82	3.82	0.43975	.	0.000000	0.32655	N	0.005803	T	0.49184	0.1542	M	0.72894	2.215	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.76575	0.963;0.953;0.988	T	0.55617	-0.8113	10	0.87932	D	0	.	14.222	0.65833	0.0:1.0:0.0:0.0	.	845;788;808	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	R	788;808;788;788;788	ENSP00000370485:G788R;ENSP00000370483:G808R;ENSP00000275857:G788R;ENSP00000370482:G788R;ENSP00000439203:G788R	ENSP00000275857:G788R	G	-	1	0	NLGN4X	5820947	1.000000	0.71417	0.865000	0.33974	0.916000	0.54674	6.389000	0.73199	1.508000	0.48769	0.513000	0.50165	GGG	-	NLGN4X	-	NULL		0.517	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	0	0	0	60	60	30	0.00	0.00	C	NM_020742		5810947	-1	49	20	15	9	tier1	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	76.56	68.97	SNP	1.000	T	49	15
NRAP	4892	genome.wustl.edu	37	10	115364512	115364512	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:115364512C>T	ENST00000359988.3	-	35	4327	c.4083G>A	c.(4081-4083)atG>atA	p.M1361I	NRAP_ENST00000369358.4_Missense_Mutation_p.M1369I|NRAP_ENST00000360478.3_Missense_Mutation_p.M1326I|NRAP_ENST00000369360.3_Missense_Mutation_p.M1334I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCACCATGTCCATGGGCAGAT	0.632													ENSG00000197893																																					0													118.0	115.0	116.0					10																	115364512		2203	4300	6503	SO:0001583	missense	0			-		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4083G>A	10.37:g.115364512C>T	ENSP00000353078:p.Met1361Ile			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.M1369I	ENST00000359988.3	37	c.4107	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218161	0.39201	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.68	4.78	0.61160	.	0.643900	0.17578	N	0.169222	T	0.36908	0.0984	M	0.62723	1.935	0.35132	D	0.768043	B;B;B;B	0.24618	0.107;0.032;0.029;0.017	B;B;B;B	0.23150	0.044;0.017;0.037;0.017	T	0.43081	-0.9413	10	0.25751	T	0.34	.	14.3912	0.66981	0.0:0.9293:0.0:0.0707	.	519;1361;1326;1361	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	I	1369;1334;1361;1326;519	ENSP00000358365:M1369I;ENSP00000358367:M1334I;ENSP00000353078:M1361I;ENSP00000353666:M1326I	ENSP00000353078:M1361I	M	-	3	0	NRAP	115354502	0.985000	0.35326	0.984000	0.44739	0.929000	0.56500	2.021000	0.41020	1.415000	0.47037	0.650000	0.86243	ATG	-	NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.632	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	0	0	0	37	37	26	0.00	0.00	C	NM_006175		115364512	-1	24	14	4	3	tier1	no_errors	ENST00000369358	ensembl	human	known	74_37	missense	85.71	82.35	SNP	0.981	T	24	4
NTRK1	4914	genome.wustl.edu	37	1	156846306	156846306	+	Missense_Mutation	SNP	C	C	T	rs371344688		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:156846306C>T	ENST00000524377.1	+	14	1788	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	NTRK1_ENST00000358660.3_Missense_Mutation_p.R580C|NTRK1_ENST00000392302.2_Missense_Mutation_p.R547C|NTRK1_ENST00000368196.3_Missense_Mutation_p.R577C	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	583	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R583G(1)|p.R547G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CACCGAGGGCCGCCCCCTGCT	0.667			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			ENSG00000198400																												Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	2	Substitution - Missense(2)	skin(2)						C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	37.0	34.0	35.0		1639,1729,1747	4.3	1.0	1		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	547/761,577/791,583/797	156846306	1,13005	2203	4300	6503	SO:0001583	missense	0			-	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1747C>T	1.37:g.156846306C>T	ENSP00000431418:p.Arg583Cys		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R583C	ENST00000524377.1	37	c.1747	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441855	0.83993	0.0	1.16E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.27	4.34	0.51931	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.353696	0.24937	N	0.034413	D	0.89305	0.6677	L	0.52905	1.665	0.42190	D	0.991727	B;D;D;D	0.76494	0.054;0.958;0.996;0.999	B;P;P;P	0.60345	0.047;0.594;0.745;0.873	D	0.90647	0.4579	10	0.87932	D	0	.	13.1929	0.59722	0.0:0.5511:0.4489:0.0	.	580;577;583;547	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	C	547;577;583;580	ENSP00000376120:R547C;ENSP00000357179:R577C;ENSP00000431418:R583C;ENSP00000351486:R580C	ENSP00000351486:R580C	R	+	1	0	NTRK1	155112930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.757000	0.62213	1.418000	0.47098	0.561000	0.74099	CGC	-	NTRK1	-	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		0.667	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	0	0	0	51	51	27	0.00	0.00	C	NM_002529		156846306	+1	20	16	28	5	tier1	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	41.67	76.19	SNP	1.000	T	20	28
OPN4	94233	genome.wustl.edu	37	10	88419679	88419679	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:88419679G>A	ENST00000241891.5	+	6	995	c.828G>A	c.(826-828)aaG>aaA	p.K276K	OPN4_ENST00000372071.2_Silent_p.K287K	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	276					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGGCCTGCAAGGGCAATGGCG	0.637													ENSG00000122375																																					0													103.0	76.0	85.0					10																	88419679		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.828G>A	10.37:g.88419679G>A			B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.K287	ENST00000241891.5	37	c.861	CCDS7376.1	10																																																																																			-	OPN4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.637	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	0	0	0	80	80	27	0.00	0.00	G	NM_033282		88419679	+1	24	12	21	8	tier1	no_errors	ENST00000372071	ensembl	human	known	74_37	silent	53.33	60.00	SNP	0.218	A	24	21
OPN4	94233	genome.wustl.edu	37	10	88419685	88419685	+	Silent	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:88419685T>C	ENST00000241891.5	+	6	1001	c.834T>C	c.(832-834)aaT>aaC	p.N278N	OPN4_ENST00000372071.2_Silent_p.N289N	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	278					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCAAGGGCAATGGCGAGTCCC	0.642													ENSG00000122375																																					0													105.0	77.0	87.0					10																	88419685		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.834T>C	10.37:g.88419685T>C			B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.N289	ENST00000241891.5	37	c.867	CCDS7376.1	10																																																																																			-	OPN4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.642	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	0	0	0	79	79	27	0.00	0.00	T	NM_033282		88419685	+1	26	11	20	8	tier1	no_errors	ENST00000372071	ensembl	human	known	74_37	silent	56.52	57.89	SNP	0.000	C	26	20
OR4A15	81328	genome.wustl.edu	37	11	55135651	55135651	+	Missense_Mutation	SNP	G	G	A	rs370541816		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:55135651G>A	ENST00000314706.3	+	1	292	c.292G>A	c.(292-294)Gat>Aat	p.D98N		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCATTCATAGATACCGTCTA	0.428													ENSG00000181958																																					0								G	ASN/ASP	0,4402		0,0,2201	125.0	122.0	123.0		292	3.5	0.0	11		123	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR4A15	NM_001005275.1	23	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	98/345	55135651	1,12993	2201	4296	6497	SO:0001583	missense	0			-	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.292G>A	11.37:g.55135651G>A	ENSP00000325065:p.Asp98Asn		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D98N	ENST00000314706.3	37	c.292	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	g	19.73	3.881597	0.72294	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.01165	5.24	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.09024	0.0223	H	0.95043	3.615	0.09310	N	1	D	0.67145	0.996	P	0.62382	0.901	T	0.06006	-1.0851	10	0.87932	D	0	.	12.5491	0.56216	0.0:0.0:1.0:0.0	.	98	Q8NGL6	O4A15_HUMAN	N	98	ENSP00000325065:D98N	ENSP00000325065:D98N	D	+	1	0	OR4A15	54892227	0.145000	0.22656	0.014000	0.15608	0.653000	0.38743	1.505000	0.35736	1.785000	0.52413	0.492000	0.49549	GAT	-	OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	0	0	0	86	86	30	0.00	0.00	G	NM_001005275		55135651	+1	32	8	32	7	tier1	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	50.00	53.33	SNP	0.005	A	32	32
PCDHB11	56125	genome.wustl.edu	37	5	140580852	140580852	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:140580852C>T	ENST00000354757.3	+	1	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S137F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCGCCTCCCTGGTCTCC	0.642													ENSG00000197479																																					0													112.0	119.0	117.0					5																	140580852		2203	4300	6503	SO:0001583	missense	0			-	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1505C>T	5.37:g.140580852C>T	ENSP00000346802:p.Ser502Phe		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S502F	ENST00000354757.3	37	c.1505	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	c	18.50	3.637352	0.67130	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.03181	4.02;4.02	2.51	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21347	0.0514	M	0.90082	3.085	0.37089	D	0.899363	D	0.89917	1.0	D	0.91635	0.999	T	0.37126	-0.9719	9	0.87932	D	0	.	13.0572	0.58988	0.0:1.0:0.0:0.0	.	502	Q9Y5F2	PCDBB_HUMAN	F	137;502	ENSP00000440344:S137F;ENSP00000346802:S502F	ENSP00000346802:S502F	S	+	2	0	PCDHB11	140561036	0.000000	0.05858	0.010000	0.14722	0.174000	0.22865	0.835000	0.27531	1.412000	0.46977	0.298000	0.19748	TCC	-	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.642	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	0	0	0	251	251	9	0.00	0.00	C	NM_018931		140580852	+1	69	2	52	4	tier1	no_errors	ENST00000354757	ensembl	human	known	74_37	missense	57.02	33.33	SNP	0.943	T	69	52
PCNXL2	80003	genome.wustl.edu	37	1	233134090	233134090	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:233134090G>A	ENST00000258229.9	-	32	5932	c.5698C>T	c.(5698-5700)Ccg>Tcg	p.P1900S	PCNXL2_ENST00000344698.2_Missense_Mutation_p.P552S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1900						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCACCACTCGGGGCATTGTTG	0.627													ENSG00000135749																																					0													46.0	48.0	47.0					1																	233134090		2019	4184	6203	SO:0001583	missense	0			-	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5698C>T	1.37:g.233134090G>A	ENSP00000258229:p.Pro1900Ser		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.P1900S	ENST00000258229.9	37	c.5698	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732618	0.30684	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.22743	1.94;3.12	5.71	3.57	0.40892	.	0.687007	0.14661	N	0.305999	T	0.10165	0.0249	N	0.19112	0.55	0.20975	N	0.999818	B;B	0.15473	0.013;0.002	B;B	0.09377	0.004;0.003	T	0.27123	-1.0083	10	0.18276	T	0.48	.	2.0288	0.03525	0.1107:0.1531:0.3358:0.4004	.	1900;552	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	S	552;1900	ENSP00000340759:P552S;ENSP00000258229:P1900S	ENSP00000258229:P1900S	P	-	1	0	PCNXL2	231200713	0.049000	0.20398	0.091000	0.20842	0.061000	0.15899	0.163000	0.16520	1.382000	0.46385	0.563000	0.77884	CCG	-	PCNXL2	-	NULL		0.627	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	0	0	0	30	30	23	0.00	0.00	G	NM_014801		233134090	-1	10	6	21	8	tier1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	32.26	42.86	SNP	0.005	A	10	21
POLR1D	51082	genome.wustl.edu	37	13	28196110	28196110	+	5'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:28196110C>T	ENST00000302979.3	+	0	1012				POLR1D_ENST00000399697.3_5'UTR|POLR1D_ENST00000399696.1_5'UTR|POLR1D_ENST00000465887.1_3'UTR|LNX2_ENST00000316334.3_5'Flank	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		GATCCAGAAACCGCCCCAGCG	0.711													ENSG00000186184																																					0													21.0	18.0	19.0					13																	28196110		2181	4288	6469	SO:0001623	5_prime_UTR_variant	0			-	AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.-11C>T	13.37:g.28196110C>T			Q5TBX2|Q96BR3	R	SNP	-	NULL	ENST00000302979.3	37	NULL	CCDS9325.1	13																																																																																			-	POLR1D	-	-		0.711	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POLR1D	HGNC	protein_coding	OTTHUMT00000044305.1	0	0	0	93	93	26	0.00	0.00	C	NM_015972, NM_152705		28196110	+1	18	5	46	7	tier1	no_errors	ENST00000465887	ensembl	human	known	74_37	rna	28.12	41.67	SNP	0.000	T	18	46
POTED	317754	genome.wustl.edu	37	21	14983026	14983026	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:14983026C>T	ENST00000299443.5	+	1	529	c.477C>T	c.(475-477)gtC>gtT	p.V159V		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	159						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ATCTCATCGTCATGCTCAGGG	0.572													ENSG00000166351																																					0													9.0	15.0	14.0					21																	14983026		684	2945	3629	SO:0001819	synonymous_variant	0			-	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.477C>T	21.37:g.14983026C>T			C9JCF7	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V159	ENST00000299443.5	37	c.477	CCDS13562.1	21																																																																																			-	POTED	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.572	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	0	0	0	101	101	13	0.00	0.00	C	NM_174981		14983026	+1	107	14	43	4	tier1	no_errors	ENST00000299443	ensembl	human	known	74_37	silent	71.33	73.68	SNP	0.001	T	107	43
PPP1R12B	4660	genome.wustl.edu	37	1	202462333	202462333	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:202462333C>T	ENST00000608999.1	+	15	2186	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.P678L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	678					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CGTGAGAAGCCCACAGACACT	0.597													ENSG00000077157																																					0													71.0	72.0	71.0					1																	202462333		2203	4300	6503	SO:0001583	missense	0			-	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2033C>T	1.37:g.202462333C>T	ENSP00000476755:p.Pro678Leu		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P678L	ENST00000608999.1	37	c.2033	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933394	0.34096	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.02472	4.28;4.28	5.68	4.76	0.60689	.	0.369011	0.22968	N	0.053470	T	0.02380	0.0073	N	0.16478	0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.54820	-0.8236	10	0.33141	T	0.24	.	11.0024	0.47614	0.0:0.9108:0.0:0.0892	.	678;678	O60237;F8W8M3	MYPT2_HUMAN;.	L	678	ENSP00000384496:P678L;ENSP00000337897:P678L	ENSP00000337897:P678L	P	+	2	0	PPP1R12B	200728956	0.941000	0.31946	0.874000	0.34290	0.546000	0.35178	2.958000	0.49145	1.369000	0.46134	0.655000	0.94253	CCC	-	PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.597	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	0	0	0	176	176	10	0.00	0.00	C	NM_032105		202462333	+1	70	3	71	4	tier1	no_errors	ENST00000336894	ensembl	human	known	74_37	missense	49.65	42.86	SNP	0.957	T	70	71
RASGRF1	5923	genome.wustl.edu	37	15	79341923	79341923	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:79341923G>A	ENST00000419573.3	-	4	813	c.539C>T	c.(538-540)tCc>tTc	p.S180F	RASGRF1_ENST00000558480.2_Missense_Mutation_p.S180F|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	180					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGAGCAGGGATGTGATCTG	0.582													ENSG00000058335																																					0													110.0	86.0	94.0					15																	79341923		2196	4293	6489	SO:0001583	missense	0			-	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.539C>T	15.37:g.79341923G>A	ENSP00000405963:p.Ser180Phe		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S180F	ENST00000419573.3	37	c.539	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548514	0.45383	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.44083	0.93	5.15	4.21	0.49690	.	128.808000	0.00357	N	0.000022	T	0.44519	0.1297	L	0.29908	0.895	0.19775	N	0.99996	B;B;B;B	0.31435	0.323;0.323;0.323;0.244	B;B;B;B	0.38428	0.106;0.212;0.141;0.273	T	0.49214	-0.8963	10	0.72032	D	0.01	.	12.3813	0.55309	0.0:0.0:0.8245:0.1755	.	180;180;180;180	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	F	180	ENSP00000405963:S180F	ENSP00000378224:S180F	S	-	2	0	RASGRF1	77128978	0.994000	0.37717	0.729000	0.30791	0.668000	0.39293	3.100000	0.50275	1.320000	0.45209	0.650000	0.86243	TCC	-	RASGRF1	-	NULL		0.582	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	0	0	0	10	10	49	0.00	0.00	G	NM_002891		79341923	-1	8	12	10	6	tier1	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	44.44	63.16	SNP	0.083	A	8	10
RASIP1	54922	genome.wustl.edu	37	19	49225154	49225154	+	Silent	SNP	G	G	A	rs376250544	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49225154G>A	ENST00000222145.4	-	11	2853	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000318083.6_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	883	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGTCCCACGCGGCTGGCGGCC	0.642													ENSG00000105538	G|||	2	0.000399361	0.0	0.0	5008	,	,		16024	0.0		0.0	False		,,,				2504	0.002																0								G		0,4406		0,0,2203	40.0	49.0	46.0		2649	-9.0	0.1	19		46	1,8591		0,1,4295	no	coding-synonymous	RASIP1	NM_017805.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		883/964	49225154	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	0			-	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2649C>T	19.37:g.49225154G>A			Q6U676	Silent	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.A883	ENST00000222145.4	37	c.2649	CCDS12731.1	19																																																																																			-	RASIP1	-	pfscan_Dilute		0.642	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	0	0	0	43	43	5	0.00	0.00	G	NM_017805		49225154	-1	11	3	24	4	tier1	no_errors	ENST00000222145	ensembl	human	known	74_37	silent	31.43	42.86	SNP	0.003	A	11	24
GBA2	57704	genome.wustl.edu	37	9	35749252	35749252	+	5'Flank	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35749252G>A	ENST00000378103.3	-	0	0				RGP1_ENST00000456972.2_Missense_Mutation_p.R17K|GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000378078.4_5'Flank|GBA2_ENST00000545786.1_Intron	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCCGGAAGGGACTCCGCG	0.766													ENSG00000107185																																					0													5.0	7.0	7.0					9																	35749252		1707	3879	5586	SO:0001631	upstream_gene_variant	0			-	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749252G>A	Exception_encountered		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Rgp1	p.R17K	ENST00000378103.3	37	c.50	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.230289	0.95207	.	.	ENSG00000107185	ENST00000456972	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.58192	0.2105	.	.	.	0.22305	N	0.999216	.	.	.	.	.	.	T	0.54629	-0.8265	5	0.87932	D	0	.	15.243	0.73485	0.0:0.0:1.0:0.0	.	.	.	.	K	17	.	ENSP00000409466:R17K	R	+	2	0	RGP1	35739252	0.321000	0.24625	0.998000	0.56505	0.906000	0.53458	0.430000	0.21428	2.640000	0.89533	0.491000	0.48974	AGG	-	RGP1	-	NULL		0.766	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000055456.1	0	0	0	73	73	11	0.00	0.00	G	NM_020944		35749252	+1	55	3	30	2	tier1	no_errors	ENST00000456972	ensembl	human	known	74_37	missense	64.71	60.00	SNP	0.994	A	55	30
SLC17A9	63910	genome.wustl.edu	37	20	61598170	61598170	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:61598170C>T	ENST00000370351.4	+	12	1278				SLC17A9_ENST00000370349.3_Intron|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9						exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GTTGTGCCTCCCTTCAGAGGG	0.672													ENSG00000101194																																					0													25.0	21.0	23.0					20																	61598170		692	1591	2283	SO:0001627	intron_variant	0			-	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.1147+86C>T	20.37:g.61598170C>T			B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	R	SNP	-	NULL	ENST00000370351.4	37	NULL	CCDS42901.1	20																																																																																			-	SLC17A9	-	-		0.672	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	0	0	0	55	55	13	0.00	0.00	C	NM_022082		61598170	+1	16	2	38	4	tier1	no_errors	ENST00000488738	ensembl	human	known	74_37	rna	29.63	33.33	SNP	0.000	T	16	38
CDH15	1013	genome.wustl.edu	37	16	89262552	89262552	+	IGR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:89262552C>T	ENST00000289746.2	+	0	2847				SLC22A31_ENST00000562855.2_Missense_Mutation_p.R509Q	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCCCCGGCTTCGGCTCTCAGG	0.711													ENSG00000259803																																					0																																										SO:0001628	intergenic_variant	0			-	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045		16.37:g.89262552C>T				Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R509Q	ENST00000289746.2	37	c.1526	CCDS10976.1	16																																																																																			-	SLC22A31	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.711	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A31	HGNC	protein_coding	OTTHUMT00000269920.1	0	0	0	35	35	19	0.00	0.00	C	NM_004933		89262552	-1	9	6	26	5	tier1	no_errors	ENST00000562855	ensembl	human	novel	74_37	missense	25.71	54.55	SNP	0.160	T	9	26
SLC39A13	91252	genome.wustl.edu	37	11	47436601	47436601	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:47436601C>T	ENST00000362021.4	+	9	973	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	SLC39A13_ENST00000533076.1_Intron|SLC39A13_ENST00000524928.1_3'UTR|SLC39A13_ENST00000354884.4_Intron	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	311					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGGGTGTTCTCCCGCTGCAGA	0.637													ENSG00000165915																																					0													49.0	49.0	49.0					11																	47436601		2201	4298	6499	SO:0001583	missense	0			-		CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.931C>T	11.37:g.47436601C>T	ENSP00000354689:p.Pro311Ser		D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Missense_Mutation	SNP	pfam_ZIP	p.P311S	ENST00000362021.4	37	c.931	CCDS44592.1	11	.	.	.	.	.	.	.	.	.	.	C	3.654	-0.070868	0.07228	.	.	ENSG00000165915	ENST00000362021	T	0.46063	0.88	5.38	3.5	0.40072	.	.	.	.	.	T	0.13670	0.0331	N	0.00980	-1.08	0.18873	N	0.999985	B	0.16396	0.017	B	0.22880	0.042	T	0.31888	-0.9927	9	0.07482	T	0.82	.	7.4453	0.27207	0.0:0.7413:0.1679:0.0908	.	311	Q96H72	S39AD_HUMAN	S	311	ENSP00000354689:P311S	ENSP00000354689:P311S	P	+	1	0	SLC39A13	47393177	0.016000	0.18221	0.005000	0.12908	0.162000	0.22319	0.804000	0.27098	0.638000	0.30545	0.462000	0.41574	CCC	-	SLC39A13	-	pfam_ZIP		0.637	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	SLC39A13	HGNC	protein_coding	OTTHUMT00000395652.1	0	0	0	35	35	31	0.00	0.00	C	NM_152264		47436601	+1	17	10	5	9	tier1	no_errors	ENST00000362021	ensembl	human	known	74_37	missense	77.27	52.63	SNP	0.018	T	17	5
SLC4A9	83697	genome.wustl.edu	37	5	139743761	139743761	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:139743761C>T	ENST00000230993.6	+	10	1484	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	SLC4A9_ENST00000432095.2_Silent_p.F448F|SLC4A9_ENST00000507527.1_Silent_p.F483F|SLC4A9_ENST00000506757.2_Silent_p.F459F|SLC4A9_ENST00000506545.1_Silent_p.F459F	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	483	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTCTTCTCTTTCAGCA	0.617													ENSG00000113073																																					0													48.0	48.0	48.0					5																	139743761		1906	4139	6045	SO:0001819	synonymous_variant	0			-	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1449C>T	5.37:g.139743761C>T			B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.F483	ENST00000230993.6	37	c.1449	CCDS58973.1	5																																																																																			-	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	0	0	0	61	61	40	0.00	0.00	C	NM_031467		139743761	+1	9	11	27	9	tier1	no_errors	ENST00000230993	ensembl	human	known	74_37	silent	25.00	55.00	SNP	0.999	T	9	27
SPANXD	64648	genome.wustl.edu	37	X	140785772	140785772	+	Silent	SNP	C	C	T	rs142384328		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140785772C>T	ENST00000370515.3	-	2	477	c.144G>A	c.(142-144)tcG>tcA	p.S48S		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CTAGTATGGTCGAGGACTCAG	0.498													ENSG00000196406																																					0								C		0,3831		0,0,1632,567	252.0	182.0	206.0		144		0.0	X	dbSNP_134	206	2,6699		0,2,2426,1845	no	coding-synonymous	SPANXD	NM_032417.2		0,2,4058,2412	TT,TC,CC,C		0.0298,0.0,0.019		48/98	140785772	2,10530	2199	4273	6472	SO:0001819	synonymous_variant	0			-	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.144G>A	X.37:g.140785772C>T			Q5JWI1	Silent	SNP	pfam_SPANX_prot	p.S48	ENST00000370515.3	37	c.144	CCDS14675.1	X																																																																																			rs142384328	SPANXD	-	pfam_SPANX_prot		0.498	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXD	HGNC	protein_coding	OTTHUMT00000058598.1	0	0	0	204	204	29	0.00	0.00	C			140785772	-1	97	26	57	9	tier1	no_errors	ENST00000370515	ensembl	human	known	74_37	silent	62.99	74.29	SNP	0.000	T	97	57
SPATA31C1	441452	genome.wustl.edu	37	9	90535838	90535838	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:90535838C>T	ENST00000602681.1	+	0	1742							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGCCTGAGTCCCAACCCTTT	0.567													ENSG00000230246																																					0													75.0	71.0	72.0					9																	90535838		692	1590	2282			0			-	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535838C>T				R	SNP	-	NULL	ENST00000602681.1	37	NULL		9																																																																																			-	SPATA31C1	-	-		0.567	SPATA31C1-002	KNOWN	basic	processed_transcript	SPATA31C1	HGNC	pseudogene	OTTHUMT00000467313.1	0	0	0	250	250	27	0.00	0.00	C	NM_001145124		90535838	+1	89	12	61	5	tier1	no_errors	ENST00000602681	ensembl	human	known	74_37	rna	59.33	70.59	SNP	0.025	T	89	61
SPATC1L	84221	genome.wustl.edu	37	21	47588471	47588471	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr21:47588471C>T	ENST00000291672.5	-	3	1356	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	99																	GTGTCGTCCTCGCTGGACAGG	0.642													ENSG00000160284																																					0													40.0	42.0	41.0					21																	47588471		692	1591	2283	SO:0001583	missense	0			-	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"""speriolin-like protein"""	612412	"""chromosome 21 open reading frame 56"""	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.295G>A	21.37:g.47588471C>T	ENSP00000291672:p.Glu99Lys		B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	NULL	p.E99K	ENST00000291672.5	37	c.295	CCDS46653.1	21	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494625	0.26774	.	.	ENSG00000160284	ENST00000291672	T	0.44482	0.92	5.46	4.57	0.56435	.	0.126819	0.35555	N	0.003122	T	0.20333	0.0489	N	0.17082	0.46	0.35382	D	0.790032	P	0.35527	0.507	B	0.24155	0.051	T	0.23511	-1.0186	10	0.20519	T	0.43	-34.0125	9.1857	0.37170	0.0:0.9028:0.0:0.0972	.	99	Q9H0A9	CU056_HUMAN	K	99	ENSP00000291672:E99K	ENSP00000291672:E99K	E	-	1	0	C21orf56	46412899	0.843000	0.29541	0.943000	0.38184	0.096000	0.18686	1.274000	0.33132	2.568000	0.86640	0.467000	0.42956	GAG	-	SPATC1L	-	NULL		0.642	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATC1L	HGNC	protein_coding	OTTHUMT00000376654.1	0	0	0	32	32	17	0.00	0.00	C	NM_032261		47588471	-1	11	2	35	5	tier1	no_errors	ENST00000291672	ensembl	human	known	74_37	missense	23.91	28.57	SNP	0.937	T	11	35
SPHK2	56848	genome.wustl.edu	37	19	49129294	49129294	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49129294C>T	ENST00000245222.4	+	3	552	c.186C>T	c.(184-186)ggC>ggT	p.G62G	SPHK2_ENST00000340932.3_Silent_p.G26G|SPHK2_ENST00000600537.1_Intron|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000601712.1_Silent_p.G26G|SPHK2_ENST00000598088.1_Silent_p.G62G|SPHK2_ENST00000599033.1_Intron|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599748.1_Silent_p.G26G|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000599029.1_Silent_p.G26G|SPHK2_ENST00000443164.1_Silent_p.G124G	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	62	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CAGCCCGAGGCCCACGCTTTG	0.706													ENSG00000063176																																					0													40.0	39.0	39.0					19																	49129294		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.186C>T	19.37:g.49129294C>T			A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G124	ENST00000245222.4	37	c.372	CCDS12727.1	19																																																																																			-	SPHK2	-	NULL		0.706	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	0	0	0	42	42	20	0.00	0.00	C			49129294	+1	15	3	29	7	tier1	no_errors	ENST00000443164	ensembl	human	known	74_37	silent	34.09	30.00	SNP	0.048	T	15	29
STRA13	201254	genome.wustl.edu	37	17	79980696	79980696	+	Intron	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:79980696C>T	ENST00000392359.3	-	1	93				STRA13_ENST00000584347.1_Intron|LRRC45_ENST00000306688.3_5'Flank|STRA13_ENST00000580435.1_Intron|STRA13_ENST00000306704.6_Intron|STRA13_ENST00000583767.1_5'UTR	NM_001271006.1	NP_001257935.1	A8MT69	CENPX_HUMAN	stimulated by retinoic acid 13						DNA repair (GO:0006281)|kinetochore assembly (GO:0051382)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	DNA binding (GO:0003677)					all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCCCTCCGGCCCTCACCTTCC	0.736													ENSG00000169689																									NSCLC(66;370 1886 11380 28417)												0													13.0	13.0	13.0					17																	79980696		2141	4248	6389	SO:0001627	intron_variant	0			-	BC009571	CCDS32772.1, CCDS59303.1, CCDS59302.1	17q25.3	2013-11-05	2012-12-07		ENSG00000169689	ENSG00000169689			11422	protein-coding gene	gene with protein product		615128	"""stimulated by retinoic acid 13 homolog (mouse)"""			8839844	Standard	NM_144998		Approved	MGC14480, MHF2, FAAP10	uc031rey.1	A8MT69	OTTHUMG00000132129	ENST00000392359.3:c.36+5G>A	17.37:g.79980696C>T			O00281|O00282|Q96DD4|Q96F51	R	SNP	-	NULL	ENST00000392359.3	37	NULL	CCDS59303.1	17																																																																																			-	STRA13	-	-		0.736	STRA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA13	HGNC	protein_coding	OTTHUMT00000255174.1	0	0	0	19	19	10	0.00	0.00	C	NM_144998		79980696	-1	9	4	5	1	tier1	no_errors	ENST00000577379	ensembl	human	known	74_37	rna	64.29	80.00	SNP	0.457	T	9	5
SURF6	6838	genome.wustl.edu	37	9	136198702	136198702	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:136198702G>A	ENST00000372022.4	-	0	1354				SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6						ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		AGGTGGGAAAGACTCAGACCA	0.687													ENSG00000148296																																					0													14.0	17.0	16.0					9																	136198702		2127	4132	6259	SO:0001624	3_prime_UTR_variant	0			-	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.*3C>T	9.37:g.136198702G>A			Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	R	SNP	-	NULL	ENST00000372022.4	37	NULL	CCDS6962.1	9																																																																																			-	SURF6	-	-		0.687	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1	0	0	0	33	33	20	0.00	0.00	G	NM_006753		136198702	-1	18	7	8	1	tier1	no_errors	ENST00000468290	ensembl	human	known	74_37	rna	69.23	87.50	SNP	0.004	A	18	8
TAS1R3	83756	genome.wustl.edu	37	1	1266876	1266876	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:1266876C>T	ENST00000339381.5	+	1	183	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	51					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGAGGCTGGCCTCCGCAGCCG	0.692													ENSG00000169962																																					0													8.0	9.0	9.0					1																	1266876		2147	4229	6376	SO:0001583	missense	0			-	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.151C>T	1.37:g.1266876C>T	ENSP00000344411:p.Leu51Phe		Q5TA49|Q8NGW9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.L51F	ENST00000339381.5	37	c.151	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	C	9.730	1.162018	0.21538	.	.	ENSG00000169962	ENST00000339381	D	0.86694	-2.16	4.11	-0.433	0.12287	.	0.768534	0.11352	N	0.572881	T	0.68504	0.3008	N	0.08118	0	0.09310	N	1	B	0.25390	0.125	B	0.22152	0.038	T	0.54139	-0.8338	10	0.09084	T	0.74	.	7.72	0.28727	0.0:0.5912:0.0:0.4088	.	51	Q7RTX0	TS1R3_HUMAN	F	51	ENSP00000344411:L51F	ENSP00000344411:L51F	L	+	1	0	TAS1R3	1256739	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.111000	0.10807	-0.275000	0.09219	-1.745000	0.00682	CTC	-	TAS1R3	-	superfamily_Peripla_BP_I		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	0	0	0	66	66	6	0.00	0.00	C			1266876	+1	39	3	32	4	tier1	no_errors	ENST00000339381	ensembl	human	known	74_37	missense	54.93	42.86	SNP	0.001	T	39	32
TBRG1	84897	genome.wustl.edu	37	11	124495738	124495738	+	Silent	SNP	A	A	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124495738A>T	ENST00000441174.3	+	3	597	c.393A>T	c.(391-393)ccA>ccT	p.P131P	TBRG1_ENST00000375005.4_Missense_Mutation_p.H26L|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	131					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		CTGAGGAACCATTTGGGAAGA	0.488													ENSG00000154144																																					0													17.0	17.0	17.0					11																	124495738		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"""nuclear interactor of ARF and MDM2"""	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.393A>T	11.37:g.124495738A>T			Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Missense_Mutation	SNP	pfam_FYrich_C,pfam_FYrich_N,smart_FYrich_N,smart_FYrich_C	p.H26L	ENST00000441174.3	37	c.77	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385469	0.61956	.	.	ENSG00000154144	ENST00000375005	T	0.79554	-1.28	6.03	0.616	0.17613	.	.	.	.	.	T	0.66416	0.2787	.	.	.	0.22866	N	0.998639	B	0.06786	0.001	B	0.08055	0.003	T	0.55198	-0.8178	8	0.54805	T	0.06	-2.0577	2.7931	0.05393	0.5226:0.2592:0.0754:0.1428	.	26	Q3YBR2-2	.	L	26	ENSP00000364144:H26L	ENSP00000364144:H26L	H	+	2	0	TBRG1	124000948	0.702000	0.27816	1.000000	0.80357	0.999000	0.98932	0.138000	0.16016	0.118000	0.18165	0.533000	0.62120	CAT	-	TBRG1	-	NULL		0.488	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	0	0	0	47	47	21	0.00	0.00	A	NM_032811		124495738	+1	21	7	29	1	tier1	no_errors	ENST00000375005	ensembl	human	known	74_37	missense	42.00	87.50	SNP	0.996	T	21	29
TPSB2	64499	genome.wustl.edu	37	16	1279234	1279234	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:1279234C>T	ENST00000339687.6	-	0	479				TPSB2_ENST00000430512.2_RNA|TPSB2_ENST00000445910.1_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				AGCACGGCATCCCCGGGGGGG	0.682													ENSG00000197253																																					0													12.0	14.0	13.0					16																	1279234		483	1506	1989			0			-	AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1279234C>T			D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Splice_Site	SNP	-	e4-1	ENST00000339687.6	37	c.454-1		16	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000330	0.35320	.	.	ENSG00000197253	ENST00000430512	.	.	.	3.58	-1.35	0.09114	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2783	0.15661	0.0:0.2873:0.4798:0.2329	.	.	.	.	.	-1	.	.	.	-	.	.	TPSB2	1219235	0.000000	0.05858	0.065000	0.19835	0.071000	0.16799	-0.369000	0.07533	0.130000	0.18549	0.455000	0.32223	.	-	TPSB2	-	-		0.682	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	HGNC	polymorphic_pseudogene	OTTHUMT00000342364.1	0	0	0	22	22	18	0.00	0.00	C	NM_024164		1279234	-1	16	12	4	8	tier1	no_errors	ENST00000430512	ensembl	human	known	74_37	splice_site	80.00	60.00	SNP	0.005	T	16	4
TRERF1	55809	genome.wustl.edu	37	6	42231058	42231058	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:42231058G>A	ENST00000372922.4	-	8	2446	c.1884C>T	c.(1882-1884)ctC>ctT	p.L628L	TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Silent_p.L628L|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372917.4_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCATCCTCACGAGCACAGGCA	0.667													ENSG00000124496																																					0													65.0	68.0	67.0					6																	42231058		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1884+1C>T	6.37:g.42231058G>A			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.L628	ENST00000372922.4	37	c.1884	CCDS4867.1	6																																																																																			-	TRERF1	-	NULL		0.667	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	0	0	0	59	59	12	0.00	0.00	G	NM_033502	Silent	42231058	-1	21	4	34	9	tier1	no_errors	ENST00000541110	ensembl	human	known	74_37	silent	38.18	30.77	SNP	0.999	A	21	34
TRPM5	29850	genome.wustl.edu	37	11	2442422	2442422	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:2442422C>T	ENST00000155858.6	-	3	313	c.305G>A	c.(304-306)tGg>tAg	p.W102*	TRPM5_ENST00000452833.1_Nonsense_Mutation_p.W102*|TRPM5_ENST00000528453.1_Nonsense_Mutation_p.W102*|TRPM5_ENST00000533060.1_Nonsense_Mutation_p.W102*	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGTCAGGATCCAGGCTCCTGT	0.687													ENSG00000070985																									NSCLC(1;49 61 17205 18850 43201)												0													7.0	7.0	7.0					11																	2442422		2007	3923	5930	SO:0001587	stop_gained	0			-	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.305G>A	11.37:g.2442422C>T	ENSP00000155858:p.Trp102*			Nonsense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.W102*	ENST00000155858.6	37	c.305	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.213147	0.95069	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	.	.	.	3.97	3.97	0.46021	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2033	13.1225	0.59336	0.0:1.0:0.0:0.0	.	.	.	.	X	94;102;102;102;102;102	.	ENSP00000155858:W102X	W	-	2	0	TRPM5	2398998	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	6.957000	0.76019	1.943000	0.56356	0.491000	0.48974	TGG	-	TRPM5	-	NULL		0.687	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	0	0	0	65	65	22	0.00	0.00	C	NM_014555		2442422	-1	53	5	35	7	tier1	no_errors	ENST00000452833	ensembl	human	known	74_37	nonsense	60.23	41.67	SNP	1.000	T	53	35
UNC5A	90249	genome.wustl.edu	37	5	176301357	176301357	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:176301357C>T	ENST00000329542.4	+	8	1442	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	UNC5A_ENST00000261961.3_Missense_Mutation_p.P350S	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	390					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCCCAGCCCCAAGTTCCA	0.662													ENSG00000113763																																					0													83.0	94.0	90.0					5																	176301357		2203	4300	6503	SO:0001583	missense	0			-	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1168C>T	5.37:g.176301357C>T	ENSP00000332737:p.Pro390Ser		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P390S	ENST00000329542.4	37	c.1168	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517252	0.44763	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.47528	0.84;1.17	5.34	4.44	0.53790	.	0.123942	0.37219	N	0.002197	T	0.27384	0.0672	N	0.08118	0	0.31205	N	0.699354	B;B	0.22480	0.07;0.017	B;B	0.21151	0.033;0.007	T	0.20773	-1.0265	10	0.40728	T	0.16	-33.8437	10.8809	0.46937	0.3416:0.6584:0.0:0.0	.	350;390	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	S	390;350	ENSP00000332737:P390S;ENSP00000261961:P350S	ENSP00000261961:P350S	P	+	1	0	UNC5A	176233963	0.968000	0.33430	1.000000	0.80357	0.936000	0.57629	1.111000	0.31159	1.196000	0.43129	0.484000	0.47621	CCC	-	UNC5A	-	NULL		0.662	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	HGNC	protein_coding	OTTHUMT00000372166.1	0	0	0	77	77	46	0.00	0.00	C	XM_030300		176301357	+1	21	14	23	3	tier1	no_errors	ENST00000329542	ensembl	human	known	74_37	missense	47.73	82.35	SNP	1.000	T	21	23
URB2	9816	genome.wustl.edu	37	1	229771837	229771837	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:229771837G>A	ENST00000258243.2	+	4	1613	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	493						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCTGGCCTCGGGCCCCTCCAC	0.572													ENSG00000135763																																					0													109.0	115.0	113.0					1																	229771837		2203	4300	6503	SO:0001583	missense	0			-	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1477G>A	1.37:g.229771837G>A	ENSP00000258243:p.Gly493Ser		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.G493S	ENST00000258243.2	37	c.1477	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532262	0.45073	.	.	ENSG00000135763	ENST00000258243	T	0.28454	1.61	5.35	4.42	0.53409	.	0.261319	0.36200	N	0.002730	T	0.30198	0.0757	L	0.60455	1.87	0.38438	D	0.946636	P	0.37441	0.595	B	0.34931	0.192	T	0.18023	-1.0350	9	.	.	.	-14.3665	15.0726	0.72049	0.072:0.0:0.9279:0.0	.	493	Q14146	URB2_HUMAN	S	493	ENSP00000258243:G493S	.	G	+	1	0	URB2	227838460	1.000000	0.71417	0.845000	0.33349	0.181000	0.23173	4.497000	0.60367	2.684000	0.91462	0.650000	0.86243	GGC	-	URB2	-	NULL		0.572	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	0	0	0	44	44	19	0.00	0.00	G	NM_014777		229771837	+1	7	8	19	6	tier1	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	26.92	57.14	SNP	0.860	A	7	19
ZBTB45	84878	genome.wustl.edu	37	19	59025634	59025634	+	Silent	SNP	A	A	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:59025634A>C	ENST00000594051.1	-	3	1803	c.1323T>G	c.(1321-1323)tcT>tcG	p.S441S	SLC27A5_ENST00000263093.2_5'Flank|SLC27A5_ENST00000601355.1_5'Flank|ZBTB45_ENST00000600990.1_Silent_p.S441S|ZBTB45_ENST00000354590.3_Silent_p.S441S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGTCGCGTAGAGAGAAGGATC	0.662													ENSG00000119574																									NSCLC(164;1383 2017 5233 27540 46677)												0													27.0	26.0	26.0					19																	59025634		2201	4297	6498	SO:0001819	synonymous_variant	0			-	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1323T>G	19.37:g.59025634A>C				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S441	ENST00000594051.1	37	c.1323	CCDS12984.1	19																																																																																			-	ZBTB45	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	HGNC	protein_coding	OTTHUMT00000467067.1	0	0	0	49	49	7	0.00	0.00	A	NM_032792		59025634	-1	30	6	41	6	tier1	no_errors	ENST00000354590	ensembl	human	known	74_37	silent	42.25	50.00	SNP	0.989	C	30	41
ZMIZ1	57178	genome.wustl.edu	37	10	81070908	81070908	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:81070908G>A	ENST00000334512.5	+	24	3635	c.3063G>A	c.(3061-3063)caG>caA	p.Q1021Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1021					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCGGAGCGCAGGGAGCGTCCG	0.687													ENSG00000108175																																					0													73.0	79.0	77.0					10																	81070908		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3063G>A	10.37:g.81070908G>A			Q5JSH9|Q7Z7E6	Silent	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.Q1021	ENST00000334512.5	37	c.3063	CCDS7357.1	10																																																																																			-	ZMIZ1	-	NULL		0.687	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	0	0	0	74	74	20	0.00	0.00	G	NM_020338		81070908	+1	21	4	19	7	tier1	no_errors	ENST00000334512	ensembl	human	known	74_37	silent	52.50	36.36	SNP	1.000	A	21	19
ZNF630	57232	genome.wustl.edu	37	X	47918037	47918037	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:47918037G>A	ENST00000409324.3	-	5	2020	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	ZNF630_ENST00000442455.3_Silent_p.T584T|ZNF630_ENST00000276054.4_Silent_p.T474T|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CACATTCAGGGGTTTTCTCCC	0.428													ENSG00000221994																																					0													82.0	71.0	75.0					X																	47918037		2193	4289	6482	SO:0001819	synonymous_variant	0			-	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1794C>T	X.37:g.47918037G>A			F8WAG4|Q5H8Z5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T598	ENST00000409324.3	37	c.1794	CCDS35237.2	X																																																																																			-	ZNF630	-	pfscan_Znf_C2H2		0.428	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	0	0	0	15	15	50	0.00	0.00	G	NM_001037735		47918037	-1	10	23	11	6	tier1	no_errors	ENST00000409324	ensembl	human	known	74_37	silent	47.62	79.31	SNP	0.011	A	10	11
ZNF730	100129543	genome.wustl.edu	37	19	23328960	23328960	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:23328960G>A	ENST00000597761.2	+	4	1313	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CAAATATAAAGAATGTGGTAA	0.343													ENSG00000183850																																					0																																										SO:0001583	missense	0			-	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1114G>A	19.37:g.23328960G>A	ENSP00000472959:p.Glu372Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E372K	ENST00000597761.2	37	c.1114	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169357	0.21621	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.876	-1.63	0.08345	.	.	.	.	.	T	0.43255	0.1239	L	0.58101	1.795	0.09310	N	1	.	.	.	.	.	.	T	0.48714	-0.9011	6	0.66056	D	0.02	.	7.4658	0.27320	0.0:0.27:0.7299:0.0	.	.	.	.	K	372	.	ENSP00000329365:E372K	E	+	1	0	ZNF730	23120800	0.000000	0.05858	0.025000	0.17156	0.024000	0.10985	0.239000	0.18023	0.293000	0.22520	0.298000	0.19748	GAA	-	ZNF730	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	0	0	0	50	50	12	0.00	0.00	G	XM_001719792		23328960	+1	19	11	18	3	tier1	no_errors	ENST00000597761	ensembl	human	known	74_37	missense	51.35	78.57	SNP	0.063	A	19	18
ZNF787	126208	genome.wustl.edu	37	19	56600179	56600179	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:56600179G>A	ENST00000270459.3	-	3	480	c.362C>T	c.(361-363)cCc>cTc	p.P121L		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCAGGCGTAGGGCTTCTCGCC	0.682													ENSG00000142409																																					0													23.0	25.0	24.0					19																	56600179		2203	4300	6503	SO:0001583	missense	0			-	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.362C>T	19.37:g.56600179G>A	ENSP00000270459:p.Pro121Leu		O00455	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P121L	ENST00000270459.3	37	c.362	CCDS42634.1	19	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470567	0.63625	.	.	ENSG00000142409	ENST00000270459	T	0.56444	0.46	3.63	3.63	0.41609	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72724	0.3496	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77822	-0.2445	9	0.72032	D	0.01	-19.6755	13.1629	0.59554	0.0:0.0:1.0:0.0	.	121	Q6DD87	ZN787_HUMAN	L	121	ENSP00000270459:P121L	ENSP00000270459:P121L	P	-	2	0	ZNF787	61291991	1.000000	0.71417	0.995000	0.50966	0.740000	0.42216	5.475000	0.66787	2.017000	0.59298	0.462000	0.41574	CCC	-	ZNF787	-	pfscan_Znf_C2H2		0.682	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF787	HGNC	protein_coding	OTTHUMT00000457498.1	0	0	0	46	46	5	0.00	0.00	G	NM_001002836		56600179	-1	10	2	46	5	tier1	no_errors	ENST00000270459	ensembl	human	known	74_37	missense	17.54	28.57	SNP	1.000	A	10	46
YAE1D1	57002	genome.wustl.edu	37	7	39612146	39612146	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:39612146C>T	ENST00000223273.2	+	3	565	c.522C>T	c.(520-522)agC>agT	p.S174S	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	174																	GTAGCAAGAGCCATAGTGGGA	0.393													ENSG00000241127																																					0													104.0	105.0	105.0					7																	39612146		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.522C>T	7.37:g.39612146C>T			A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	pfam_Essential_protein_Yae1_N	p.S174	ENST00000223273.2	37	c.522	CCDS5459.1	7																																																																																			-	YAE1D1	-	NULL		0.393	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAE1D1	HGNC	protein_coding	OTTHUMT00000250586.1	0	0	0	140	140	103	0.00	0.00	C	NM_020192		39612146	+1	19	8	103	88	tier1	no_errors	ENST00000223273	ensembl	human	known	74_37	silent	15.45	8.33	SNP	0.000	T	19	103
SIT1	27240	genome.wustl.edu	37	9	35650022	35650022	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:35650022C>T	ENST00000259608.3	-	5	500	c.414G>A	c.(412-414)cgG>cgA	p.R138R	SIT1_ENST00000474403.1_5'UTR|RP11-331F9.4_ENST00000428948.1_RNA	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	138					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACCGGGGATCCGACCCTGAG	0.622													ENSG00000137078																																					0													16.0	16.0	16.0					9																	35650022		2201	4296	6497	SO:0001819	synonymous_variant	0			-		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.414G>A	9.37:g.35650022C>T			B2RBP9	Silent	SNP	NULL	p.R138	ENST00000259608.3	37	c.414	CCDS6582.1	9																																																																																			-	SIT1	-	NULL		0.622	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIT1	HGNC	protein_coding	OTTHUMT00000052322.1	0	0	0	177	177	43	0.00	0.00	C	NM_014450		35650022	-1	51	4	180	52	tier1	no_errors	ENST00000259608	ensembl	human	known	74_37	silent	22.08	7.14	SNP	0.004	T	51	180
MUC6	4588	genome.wustl.edu	37	11	1028893	1028893	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1028893C>G	ENST00000421673.2	-	12	1499	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	483	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTACGAGTCTTGTATGGCA	0.627													ENSG00000184956																																					0													80.0	89.0	86.0					11																	1028893		2050	4187	6237	SO:0001583	missense	0			-	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1449G>C	11.37:g.1028893C>G	ENSP00000406861:p.Lys483Asn		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.K483N	ENST00000421673.2	37	c.1449	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	7.194	0.592068	0.13812	.	.	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	-0.734	0.11140	von Willebrand factor, type D domain (3);	0.000000	0.31859	U	0.006946	T	0.43567	0.1253	N	0.21324	0.655	0.09310	N	1	P	0.37914	0.611	P	0.48598	0.583	T	0.28073	-1.0055	10	0.38643	T	0.18	.	2.2678	0.04083	0.418:0.2694:0.0:0.3125	.	483	Q6W4X9	MUC6_HUMAN	N	483	ENSP00000406861:K483N	ENSP00000406861:K483N	K	-	3	2	MUC6	1018893	0.000000	0.05858	0.008000	0.14137	0.104000	0.19210	-0.878000	0.04192	0.034000	0.15491	0.313000	0.20887	AAG	-	MUC6	-	pfam_VWF_type-D,smart_VWF_type-D		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	0	0	0	58	58	93	0.00	0.00	C	XM_290540		1028893	-1	5	5	36	51	tier1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	12.20	8.93	SNP	0.005	G	5	36
GRIA4	2893	genome.wustl.edu	37	11	105850916	105850916	+	3'UTR	SNP	G	G	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:105850916G>C	ENST00000530497.1	+	0	3159				GRIA4_ENST00000282499.5_3'UTR|GRIA4_ENST00000393127.2_3'UTR|GRIA4_ENST00000533094.1_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GTCCATGGAAGAAAATCCAGC	0.363													ENSG00000152578																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.*450G>C	11.37:g.105850916G>C			Q86XE8	R	SNP	-	NULL	ENST00000530497.1	37	NULL	CCDS8333.1	11																																																																																			-	GRIA4	-	-		0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	0	0	0	139	139	148	0.00	0.00	G			105850916	+1	11	9	88	94	tier1	no_errors	ENST00000533094	ensembl	human	putative	74_37	rna	11.11	8.65	SNP	0.955	C	11	88
C1orf162	128346	genome.wustl.edu	37	1	112020834	112020834	+	3'UTR	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:112020834C>T	ENST00000343534.5	+	0	807				C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162							integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		AAATTTTGGACCACCACCTGT	0.433													ENSG00000143110																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.*89C>T	1.37:g.112020834C>T			Q5QNZ1	R	SNP	-	NULL	ENST00000343534.5	37	NULL	CCDS837.1	1																																																																																			-	C1orf162	-	-		0.433	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf162	HGNC	protein_coding	OTTHUMT00000032471.1	0	0	0	15	15	87	0.00	0.00	C	NM_174896		112020834	+1	10	7	20	103	tier1	no_errors	ENST00000464591	ensembl	human	known	74_37	rna	33.33	6.31	SNP	0.000	T	10	20
PLXNA4	91584	genome.wustl.edu	37	7	131825507	131825507	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:131825507C>T	ENST00000359827.3	-	30	6251	c.5289G>A	c.(5287-5289)aaG>aaA	p.K1763K	PLXNA4_ENST00000321063.4_Silent_p.K1763K			Q9HCM2	PLXA4_HUMAN	plexin A4	1763					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGATGCTGTTCTTATGGATGT	0.557													ENSG00000221866																																					0													119.0	128.0	125.0					7																	131825507		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5289G>A	7.37:g.131825507C>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K1763	ENST00000359827.3	37	c.5289	CCDS43646.1	7																																																																																			-	PLX4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLX4	HGNC	protein_coding	OTTHUMT00000338422.2	0	0	0	78	78	66	0.00	0.00	C	NM_181775		131825507	-1	16	4	28	46	tier1	no_errors	ENST00000321063	ensembl	human	known	74_37	silent	36.36	8.00	SNP	1.000	T	16	28
OR8D1	283159	genome.wustl.edu	37	11	124179743	124179743	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124179743C>T	ENST00000357821.2	-	1	990	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GACTCATTTTCCTACTAAGAC	0.368													ENSG00000196341																																					0													89.0	90.0	90.0					11																	124179743		2201	4299	6500	SO:0001583	missense	0			-	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.920G>A	11.37:g.124179743C>T	ENSP00000350474:p.Gly307Glu		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G307E	ENST00000357821.2	37	c.920	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	c	8.310	0.822005	0.16678	.	.	ENSG00000196341	ENST00000357821	T	0.00314	8.14	4.19	-1.13	0.09775	.	0.987857	0.08202	U	0.982203	T	0.00178	0.0005	N	0.20357	0.565	0.09310	N	1	B	0.23540	0.087	B	0.34536	0.185	T	0.21008	-1.0258	10	0.62326	D	0.03	.	3.8617	0.08999	0.4486:0.3692:0.0:0.1822	.	307	Q8WZ84	OR8D1_HUMAN	E	307	ENSP00000350474:G307E	ENSP00000350474:G307E	G	-	2	0	OR8D1	123684953	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.427000	0.06999	-0.451000	0.07097	0.508000	0.49915	GGA	-	OR8D1	-	NULL		0.368	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	0	0	0	72	72	213	0.00	0.00	C	NM_001002917		124179743	-1	15	9	43	110	tier1	no_errors	ENST00000357821	ensembl	human	known	74_37	missense	25.42	7.56	SNP	0.000	T	15	43
NACAD	23148	genome.wustl.edu	37	7	45122646	45122646	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:45122646G>A	ENST00000490531.2	-	2	3152	c.3133C>T	c.(3133-3135)Ctt>Ttt	p.L1045F		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1045					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GGCCTAGAAAGGGCTTCTGCT	0.602													ENSG00000136274																																					0													16.0	17.0	17.0					7																	45122646		690	1591	2281	SO:0001583	missense	0			-	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.3133C>T	7.37:g.45122646G>A	ENSP00000420477:p.Leu1045Phe			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.L1045F	ENST00000490531.2	37	c.3133	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948466	0.34377	.	.	ENSG00000136274	ENST00000490531	T	0.12879	2.64	3.36	0.251	0.15540	.	.	.	.	.	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	1	P	0.46512	0.879	B	0.43575	0.424	T	0.23190	-1.0195	9	0.56958	D	0.05	.	6.4191	0.21734	0.0:0.3276:0.3382:0.3342	.	1045	O15069	NACAD_HUMAN	F	1045	ENSP00000420477:L1045F	ENSP00000420477:L1045F	L	-	1	0	NACAD	45089171	0.001000	0.12720	0.000000	0.03702	0.086000	0.17979	0.381000	0.20619	-0.069000	0.12931	0.297000	0.19635	CTT	-	CAD	-	NULL		0.602	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000353652.2	0	0	0	36	36	48	0.00	0.00	G	NM_001146334		45122646	-1	10	5	21	51	tier1	no_errors	ENST00000490531	ensembl	human	known	74_37	missense	32.26	8.93	SNP	0.000	A	10	21
BBOX1	8424	genome.wustl.edu	37	11	27114883	27114883	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:27114883G>A	ENST00000529202.1	+	4	842	c.503G>A	c.(502-504)aGg>aAg	p.R168K	BBOX1_ENST00000528583.1_Missense_Mutation_p.R168K|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000263182.3_Missense_Mutation_p.R168K|BBOX1_ENST00000525090.1_Missense_Mutation_p.R168K			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	168					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTTGGGAAAAGGATGGGTTTC	0.443													ENSG00000129151																																					0													103.0	105.0	104.0					11																	27114883		2202	4299	6501	SO:0001583	missense	0			-	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.503G>A	11.37:g.27114883G>A	ENSP00000435781:p.Arg168Lys		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.R168K	ENST00000529202.1	37	c.503	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367547	0.61513	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.53	5.53	0.82687	.	0.039886	0.85682	N	0.000000	D	0.82724	0.5099	M	0.68317	2.08	0.80722	D	1	P	0.35872	0.525	B	0.37015	0.239	T	0.82184	-0.0583	10	0.39692	T	0.17	.	16.9617	0.86273	0.0:0.0:1.0:0.0	.	168	O75936	BODG_HUMAN	K	168	ENSP00000435781:R168K;ENSP00000263182:R168K;ENSP00000434918:R168K;ENSP00000433772:R168K	ENSP00000263182:R168K	R	+	2	0	BBOX1	27071459	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	5.047000	0.64232	2.582000	0.87167	0.650000	0.86243	AGG	-	BBOX1	-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase		0.443	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	0	0	0	74	74	142	0.00	0.00	G	NM_003986		27114883	+1	6	7	60	107	tier1	no_errors	ENST00000263182	ensembl	human	known	74_37	missense	9.09	6.09	SNP	1.000	A	6	60
GRIK4	2900	genome.wustl.edu	37	11	120776105	120776105	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:120776105G>T	ENST00000527524.2	+	13	1666	c.1379G>T	c.(1378-1380)cGa>cTa	p.R460L	GRIK4_ENST00000438375.2_Missense_Mutation_p.R460L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	460					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GAGATCCTCCGATTCAACTAC	0.577													ENSG00000149403																																					0													161.0	158.0	159.0					11																	120776105		2203	4299	6502	SO:0001583	missense	0			-	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1379G>T	11.37:g.120776105G>T	ENSP00000435648:p.Arg460Leu		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R460L	ENST00000527524.2	37	c.1379	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731520	0.69189	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11495	2.77;2.77	5.47	4.55	0.56014	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.059773	0.64402	D	0.000003	T	0.14527	0.0351	L	0.46157	1.445	0.25922	N	0.983101	B;P	0.35575	0.223;0.51	B;B	0.42827	0.399;0.399	T	0.08330	-1.0727	10	0.72032	D	0.01	.	9.9238	0.41481	0.0719:0.0:0.7881:0.14	.	460;460	A6H8K8;Q16099	.;GRIK4_HUMAN	L	460	ENSP00000435648:R460L;ENSP00000404063:R460L	ENSP00000404063:R460L	R	+	2	0	GRIK4	120281315	0.999000	0.42202	0.375000	0.26029	0.957000	0.61999	3.965000	0.56788	1.270000	0.44297	0.655000	0.94253	CGA	-	GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.577	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	0	0	0	73	73	92	0.00	0.00	G	NM_014619		120776105	+1	6	6	39	79	tier1	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	13.33	6.98	SNP	0.358	T	6	39
TNIK	23043	genome.wustl.edu	37	3	170786725	170786725	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:170786725C>A	ENST00000436636.2	-	30	3955	c.3611G>T	c.(3610-3612)aGa>aTa	p.R1204I	TNIK_ENST00000341852.6_Missense_Mutation_p.R1120I|TNIK_ENST00000357327.5_Missense_Mutation_p.R1175I|TNIK_ENST00000470834.1_Missense_Mutation_p.R1167I|TNIK_ENST00000369326.5_Missense_Mutation_p.R1182I|TNIK_ENST00000475336.1_Missense_Mutation_p.R1112I|TNIK_ENST00000538048.1_Missense_Mutation_p.R1156I|TNIK_ENST00000460047.1_Missense_Mutation_p.R1141I|TNIK_ENST00000488470.1_Missense_Mutation_p.R1149I|TNIK_ENST00000284483.8_Missense_Mutation_p.R1196I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1204	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AACCTTTAATCTTTGACCTTC	0.383													ENSG00000154310																																					0													152.0	148.0	149.0					3																	170786725		1853	4091	5944	SO:0001583	missense	0			-	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3611G>T	3.37:g.170786725C>A	ENSP00000399511:p.Arg1204Ile		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.R1204I	ENST00000436636.2	37	c.3611	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.173424	0.94807	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47	6.06	6.06	0.98353	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.994;0.999;0.998;0.994;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.78314	0.991;0.983;0.975;0.988;0.983;0.988;0.975;0.988;0.991	T	0.01024	-1.1477	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1156;1112;1167;1141;1120;1196;1175;1149;1204	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	I	1204;1182;1156;1120;1196;1112;1175;1141;1149;1167	ENSP00000399511:R1204I;ENSP00000358332:R1182I;ENSP00000443278:R1156I;ENSP00000345352:R1120I;ENSP00000284483:R1196I;ENSP00000418156:R1112I;ENSP00000349880:R1175I;ENSP00000418916:R1141I;ENSP00000418378:R1149I;ENSP00000419990:R1167I	ENSP00000284483:R1196I	R	-	2	0	TNIK	172269419	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	AGA	-	TNIK	-	pfam_Citron,smart_Citron		0.383	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	0	0	0	87	87	126	0.00	0.00	C	XM_039796		170786725	-1	21	10	102	101	tier1	no_errors	ENST00000436636	ensembl	human	known	74_37	missense	17.07	9.01	SNP	1.000	A	21	102
PRLR	5618	genome.wustl.edu	37	5	35068970	35068970	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:35068970C>T	ENST00000382002.5	-	8	1122	c.696G>A	c.(694-696)atG>atA	p.M232I	PRLR_ENST00000509934.1_Intron|PRLR_ENST00000513753.1_Missense_Mutation_p.M232I|PRLR_ENST00000231423.3_Missense_Mutation_p.M232I|PRLR_ENST00000310101.5_Missense_Mutation_p.M232I|PRLR_ENST00000511486.1_Missense_Mutation_p.M131I|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.M232I|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.M131I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	232					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TTGTATCATTCATGGTGAAGT	0.408													ENSG00000113494																																					0													103.0	95.0	98.0					5																	35068970		2203	4300	6503	SO:0001583	missense	0			-		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.696G>A	5.37:g.35068970C>T	ENSP00000371432:p.Met232Ile		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.M232I	ENST00000382002.5	37	c.696	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	6.601	0.479183	0.12581	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;D;T;D;T	0.87334	-0.92;-0.86;-0.89;-2.24;-1.29;-2.24;-0.9	5.76	3.97	0.46021	.	0.564982	0.20475	N	0.091617	T	0.81187	0.4770	L	0.57536	1.79	0.25798	N	0.984541	B;B;B;B	0.27117	0.105;0.168;0.004;0.004	B;B;B;B	0.22880	0.03;0.042;0.006;0.01	T	0.66276	-0.5964	10	0.21014	T	0.42	-9.0E-4	6.7167	0.23308	0.1444:0.699:0.0:0.1566	.	232;131;232;232	P16471;P16471-2;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	I	232;232;232;131;232;131;232	ENSP00000231423:M232I;ENSP00000424841:M232I;ENSP00000441813:M232I;ENSP00000339213:M131I;ENSP00000371432:M232I;ENSP00000422556:M131I;ENSP00000309008:M232I	ENSP00000231423:M232I	M	-	3	0	PRLR	35104727	0.993000	0.37304	0.026000	0.17262	0.176000	0.22953	1.967000	0.40491	0.882000	0.36016	0.655000	0.94253	ATG	-	PRLR	-	NULL		0.408	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	0	0	0	60	60	96	0.00	0.00	C			35068970	-1	15	7	65	73	tier1	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	18.75	8.75	SNP	0.716	T	15	65
CEP250	11190	genome.wustl.edu	37	20	34092368	34092368	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:34092368G>A	ENST00000397527.1	+	30	6891	c.6171G>A	c.(6169-6171)cgG>cgA	p.R2057R	CEP250_ENST00000342580.4_Silent_p.R2001R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2057	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCAGGAACGGGAGCAGCTGC	0.557													ENSG00000126001																																					0													29.0	31.0	30.0					20																	34092368		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6171G>A	20.37:g.34092368G>A			E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.R2057	ENST00000397527.1	37	c.6171	CCDS13255.1	20																																																																																			-	CEP250	-	NULL		0.557	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	0	0	0	49	49	66	0.00	0.00	G	NM_007186		34092368	+1	7	6	55	69	tier1	no_errors	ENST00000397527	ensembl	human	known	74_37	silent	11.29	8.00	SNP	0.326	A	7	55
ZRANB3	84083	genome.wustl.edu	37	2	136029338	136029338	+	Splice_Site	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:136029338C>T	ENST00000264159.6	-	10	1322	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	ZRANB3_ENST00000401392.1_Splice_Site_p.Q402Q|ZRANB3_ENST00000536680.1_Splice_Site_p.Q402Q	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	402	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AATTTCTTACCTGGCCAGCAG	0.353													ENSG00000121988																																					0													56.0	54.0	55.0					2																	136029338		1849	4093	5942	SO:0001630	splice_region_variant	0			-	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1206+1G>A	2.37:g.136029338C>T			B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q402	ENST00000264159.6	37	c.1206	CCDS46419.1	2																																																																																			-	ZRANB3	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.353	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	0	0	0	72	72	86	0.00	0.00	C	NM_032143	Silent	136029338	-1	13	5	49	48	tier1	no_errors	ENST00000264159	ensembl	human	known	74_37	silent	20.97	9.43	SNP	1.000	T	13	49
PRKRA	8575	genome.wustl.edu	37	2	179315108	179315108	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179315108C>T	ENST00000325748.4	-	2	296	c.96G>A	c.(94-96)ggG>ggA	p.G32G	PRKRA_ENST00000487082.1_Silent_p.G7G|PRKRA_ENST00000470200.1_5'UTR|DFNB59_ENST00000375129.4_5'Flank|PRKRA_ENST00000438687.3_5'UTR|PRKRA_ENST00000432031.2_Silent_p.G21G|DFNB59_ENST00000409117.3_5'Flank	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	32	Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TCGGTGTTTTCCCTGGCTTAG	0.438													ENSG00000180228																									Melanoma(200;68 3001 23825 48764)												0													234.0	258.0	250.0					2																	179315108		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"""protein activator of the interferon-induced protein kinase"""	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.96G>A	2.37:g.179315108C>T			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Silent	SNP	pfam_dsR-bd_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom	p.G32	ENST00000325748.4	37	c.96	CCDS2279.1	2																																																																																			-	PRKRA	-	NULL		0.438	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	HGNC	protein_coding	OTTHUMT00000255782.2	0	0	0	123	123	185	0.00	0.00	C	NM_003690		179315108	-1	10	7	91	98	tier1	no_errors	ENST00000325748	ensembl	human	known	74_37	silent	9.90	6.60	SNP	1.000	T	10	91
TTN	7273	genome.wustl.edu	37	2	179584349	179584349	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:179584349C>T	ENST00000591111.1	-	80	23143	c.22919G>A	c.(22918-22920)gGa>gAa	p.G7640E	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.G7957E|TTN_ENST00000342992.6_Missense_Mutation_p.G6713E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13190	Ig-like 58.				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)			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)			GCTATATAATCCTTTGTCACT	0.368													ENSG00000155657																																					0													180.0	172.0	175.0					2																	179584349		1867	4107	5974	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.22919G>A	2.37:g.179584349C>T	ENSP00000465570:p.Gly7640Glu		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.G6713E	ENST00000591111.1	37	c.20138		2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667824	0.47677	.	.	ENSG00000155657	ENST00000342992	T	0.77750	-1.12	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94604	0.8261	H	0.99838	4.83	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96473	0.9350	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7640	Q8WZ42	TITIN_HUMAN	E	6713	ENSP00000343764:G6713E	ENSP00000343764:G6713E	G	-	2	0	TTN	179292594	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.999000	0.70665	2.894000	0.99253	0.655000	0.94253	GGA	-	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	44	44	159	0.00	0.00	C	NM_133378		179584349	-1	8	9	42	84	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	16.00	9.68	SNP	1.000	T	8	42
BBOX1	8424	genome.wustl.edu	37	11	27114884	27114884	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:27114884G>A	ENST00000529202.1	+	4	843	c.504G>A	c.(502-504)agG>agA	p.R168R	BBOX1_ENST00000528583.1_Silent_p.R168R|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000263182.3_Silent_p.R168R|BBOX1_ENST00000525090.1_Silent_p.R168R			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	168					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TTGGGAAAAGGATGGGTTTCC	0.443													ENSG00000129151																																					0													102.0	105.0	104.0					11																	27114884		2202	4299	6501	SO:0001819	synonymous_variant	0			-	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.504G>A	11.37:g.27114884G>A			B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.R168	ENST00000529202.1	37	c.504	CCDS7862.1	11																																																																																			-	BBOX1	-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase		0.443	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	0	0	1	74	74	140	0.00	0.71	G	NM_003986		27114884	+1	6	7	60	108	tier1	no_errors	ENST00000263182	ensembl	human	known	74_37	silent	9.09	6.09	SNP	0.996	A	6	60
CCDC15	80071	genome.wustl.edu	37	11	124857872	124857872	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:124857872G>A	ENST00000344762.5	+	8	2009	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	CCDC15_ENST00000529051.1_Missense_Mutation_p.D584N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	584						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TCAGGACCAGGATTTTCTACC	0.438													ENSG00000149548																																					0													176.0	166.0	169.0					11																	124857872		1820	4079	5899	SO:0001583	missense	0			-	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1750G>A	11.37:g.124857872G>A	ENSP00000341684:p.Asp584Asn		Q9H8U7	Missense_Mutation	SNP	NULL	p.D584N	ENST00000344762.5	37	c.1750	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412579	0.25465	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.32515	1.45;1.47	3.41	2.45	0.29901	.	.	.	.	.	T	0.37489	0.1005	L	0.44542	1.39	0.22581	N	0.998967	D	0.58268	0.982	P	0.55749	0.783	T	0.14117	-1.0484	9	0.33141	T	0.24	.	10.78	0.46371	0.0:0.1965:0.8035:0.0	.	584	Q0P6D6	CCD15_HUMAN	N	584	ENSP00000435403:D584N;ENSP00000341684:D584N	ENSP00000341684:D584N	D	+	1	0	CCDC15	124363082	0.000000	0.05858	0.087000	0.20705	0.669000	0.39330	-1.678000	0.01942	0.685000	0.31468	0.514000	0.50259	GAT	-	CCDC15	-	NULL		0.438	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1	0	0	0	132	132	166	0.00	0.00	G	NM_025004		124857872	+1	18	11	119	103	tier1	no_errors	ENST00000344762	ensembl	human	known	74_37	missense	13.04	9.65	SNP	0.619	A	18	119
BNIP3P1	319138	genome.wustl.edu	37	14	28734133	28734142	+	RNA	DEL	AAATATTCCC	AAATATTCCC	-	rs561981255	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	AAATATTCCC	AAATATTCCC	AAATATTCCC	-	AAATATTCCC	AAATATTCCC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:28734133_28734142delAAATATTCCC	ENST00000550043.1	+	0	538_547									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		GTCGGCCGGAAAATATTCCCCCCAAGGAGT	0.476													ENSG00000197358																																					0																																												0						14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734133_28734142delAAATATTCCC				R	DEL	-	NULL	ENST00000550043.1	37	NULL		14																																																																																				BNIP3P1	-	-		0.476	BNIP3P1-002	KNOWN	basic	processed_transcript	BNIP3P1	HGNC	pseudogene	OTTHUMT00000408770.1	0	0	0	140	140	140	0.00	0.00	AAATATTCCC			28734142	+1	5	5	98	98	tier1	no_errors	ENST00000550043	ensembl	human	known	74_37	rna	4.85	4.85	DEL	1.000:1.000:0.996:0.755:0.753:0.760:0.767:0.837:0.816:0.774	-	5	98
SCN7A	6332	genome.wustl.edu	37	2	167301398	167301398	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:167301398C>T	ENST00000409855.1	-	12	1626	c.1500G>A	c.(1498-1500)agG>agA	p.R500R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	500					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCATTATAATCCTATGGACAA	0.328													ENSG00000136546																																					0													71.0	69.0	70.0					2																	167301398		1818	4086	5904	SO:0001819	synonymous_variant	0			-	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1500G>A	2.37:g.167301398C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R500	ENST00000409855.1	37	c.1500	CCDS46442.1	2																																																																																			-	SCN7A	-	NULL		0.328	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	0	0	2	112	112	126	0.00	1.56	C			167301398	-1	24	22	66	104	tier1	no_errors	ENST00000409855	ensembl	human	known	74_37	silent	26.67	17.46	SNP	0.002	T	24	66
KIAA0930	23313	genome.wustl.edu	37	22	45622165	45622165	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:45622165G>A	ENST00000336156.5	-	2	130				KIAA0930_ENST00000391627.2_Intron	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930											endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TACAGTTAAGGAAACCGAGAC	0.562													ENSG00000100364																																					0																																										SO:0001627	intron_variant	0			-	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.65-14177C>T	22.37:g.45622165G>A			B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	NULL	p.S55F	ENST00000336156.5	37	c.164	CCDS33665.1	22																																																																																			-	KIAA0930	-	NULL		0.562	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	0	0	2	46	46	173	0.00	1.14	G	NM_001009880		45622165	-1	15	40	18	96	tier1	no_errors	ENST00000417906	ensembl	human	known	74_37	missense	45.45	29.41	SNP	0.040	A	15	18
EI24	9538	genome.wustl.edu	37	11	125453792	125453792	+	3'UTR	SNP	G	G	A	rs553701433	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:125453792G>A	ENST00000530985.1	+	0	1664				STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000278903.6_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_3'UTR			O14681	EI24_HUMAN	etoposide induced 2.4						apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		ACATCACCGTGAGTCTGAAAG	0.453													ENSG00000149547	G|||	2	0.000399361	0.0	0.0	5008	,	,		20126	0.0		0.001	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	0			-	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000530985.1:c.*1661G>A	11.37:g.125453792G>A			A8K7D6|B4DKL6|Q9BUQ1	R	SNP	-	NULL	ENST00000530985.1	37	NULL		11																																																																																			-	EI24	-	-		0.453	EI24-002	KNOWN	basic	processed_transcript	EI24	HGNC	protein_coding	OTTHUMT00000386671.1	0	0	1	19	19	41	0.00	2.38	G	NM_004879		125453792	+1	6	26	6	12	tier1	no_errors	ENST00000527628	ensembl	human	known	74_37	rna	50.00	68.42	SNP	0.009	A	6	6
MAGEC1	9947	genome.wustl.edu	37	X	140993291	140993291	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140993291C>T	ENST00000285879.4	+	4	387	c.101C>T	c.(100-102)cCt>cTt	p.P34L	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	34										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCAGTCTCCTCTCCAGATT	0.582										HNSCC(15;0.026)			ENSG00000155495																																					0													82.0	82.0	82.0					X																	140993291		2203	4300	6503	SO:0001583	missense	0			-	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.101C>T	X.37:g.140993291C>T	ENSP00000285879:p.Pro34Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P34L	ENST00000285879.4	37	c.101	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	14.04	2.417848	0.42918	.	.	ENSG00000155495	ENST00000285879;ENST00000370511	T;T	0.18174	3.95;2.23	.	.	.	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.80722	D	1	P	0.48350	0.909	P	0.52909	0.713	T	0.11641	-1.0579	7	0.87932	D	0	.	.	.	.	.	34	O60732	MAGC1_HUMAN	L	34	ENSP00000285879:P34L;ENSP00000359542:P34L	ENSP00000285879:P34L	P	+	2	0	MAGEC1	140820957	0.005000	0.15991	0.151000	0.22473	0.152000	0.21847	0.156000	0.16382	0.147000	0.19030	0.149000	0.16113	CCT	-	MAGEC1	-	NULL		0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	0	0	1	26	26	17	0.00	5.56	C	NM_005462		140993291	+1	22	14	5	4	tier1	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	81.48	77.78	SNP	0.998	T	22	5
LOC100289656	100289656	genome.wustl.edu	37	15	29035383	29035383	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:29035383C>T	ENST00000430589.1	+	0	895				RP11-578F21.12_ENST00000562423.1_RNA	NR_036475.2																						CTACTTAATTCTGATAAACCT	0.358													ENSG00000261377																																					0																																												0			-																													15.37:g.29035383C>T				R	SNP	-	NULL	ENST00000430589.1	37	NULL		15																																																																																			-	RP11-578F21.12	-	-		0.358	RP11-578F21.10-002	PUTATIVE	basic	processed_transcript	LOC101929232	Clone_based_vega_gene	pseudogene	OTTHUMT00000431786.1	0	0	1	49	49	37	0.00	2.63	C			29035383	+1	4	10	11	10	tier1	no_errors	ENST00000565892	ensembl	human	putative	74_37	rna	26.67	47.62	SNP	0.895	T	4	11
TENM1	10178	genome.wustl.edu	37	X	123526042	123526042	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:123526042T>C	ENST00000371130.3	-	27	5590	c.5527A>G	c.(5527-5529)Atc>Gtc	p.I1843V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.I1850V	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1843					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAATATGTGATGTTCACTTCA	0.398													ENSG00000009694																																					0													103.0	87.0	92.0					X																	123526042		2203	4299	6502	SO:0001583	missense	0			-	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5527A>G	X.37:g.123526042T>C	ENSP00000360171:p.Ile1843Val		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.I1850V	ENST00000371130.3	37	c.5548	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	8.670	0.902547	0.17760	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.93	5.4	5.4	0.78164	.	0.109382	0.64402	D	0.000005	T	0.71609	0.3360	N	0.16862	0.45	0.51482	D	0.999928	B;B;B	0.21753	0.06;0.021;0.027	B;B;B	0.16722	0.012;0.008;0.016	T	0.66748	-0.5845	10	0.02654	T	1	.	14.5278	0.67900	0.0:0.0:0.0:1.0	.	1849;1850;1843	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	V	1843;1850	ENSP00000360171:I1843V;ENSP00000403954:I1850V	ENSP00000360171:I1843V	I	-	1	0	ODZ1	123353723	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	3.818000	0.55678	1.810000	0.52873	0.486000	0.48141	ATC	-	TENM1	-	NULL		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	0	0	1	36	36	25	0.00	3.85	T	NM_014253		123526042	-1	24	9	22	24	tier1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	52.17	26.47	SNP	1.000	C	24	22
MAGEC3	139081	genome.wustl.edu	37	X	140967031	140967031	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:140967031G>A	ENST00000298296.1	+	3	329	c.329G>A	c.(328-330)gGg>gAg	p.G110E	MAGEC3_ENST00000536088.1_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000443323.2_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	110										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCGGAGGGGAAGTTTTCT	0.562													ENSG00000165509																																					0													33.0	30.0	31.0					X																	140967031		2203	4300	6503	SO:0001583	missense	0			-	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.329G>A	X.37:g.140967031G>A	ENSP00000298296:p.Gly110Glu		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.G110E	ENST00000298296.1	37	c.329	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288755	0.23478	.	.	ENSG00000165509	ENST00000298296	T	0.08984	3.03	1.36	-1.83	0.07833	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38194	0.267	T	0.34800	-0.9814	9	0.72032	D	0.01	.	1.9706	0.03405	0.284:0.0:0.3265:0.3895	.	110	Q8TD91	MAGC3_HUMAN	E	110	ENSP00000298296:G110E	ENSP00000298296:G110E	G	+	2	0	MAGEC3	140794697	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.340000	0.07821	-0.574000	0.05990	-0.593000	0.04111	GGG	-	MAGEC3	-	NULL		0.562	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	0	0	1	54	54	20	0.00	4.76	G	NM_138702		140967031	+1	31	17	12	2	tier1	no_errors	ENST00000298296	ensembl	human	known	74_37	missense	72.09	89.47	SNP	0.000	A	31	12
CELSR2	1952	genome.wustl.edu	37	1	109801544	109801545	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:109801544_109801545CC>TT	ENST00000271332.3	+	2	3862_3863	c.3801_3802CC>TT	c.(3799-3804)caCCcc>caTTcc	p.P1268S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1268	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCCCATCCACCCCGTCGGAGG	0.708													ENSG00000143126																									NSCLC(158;1285 2011 34800 34852 42084)												0																																										SO:0001583	missense	0			-	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	Exception_encountered	1.37:g.109801544_109801545delinsTT	ENSP00000271332:p.Pro1268Ser		Q5T2Y7|Q92566	Silent|Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.H1267|p.P1268S	ENST00000271332.3	37	c.3801|c.3802	CCDS796.1	1																																																																																			-	CELSR2	-	smart_EG-like_dom,pfscan_EG-like_dom		0.708	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	0	0	0	32	32	5	0.00	0.00	C	NM_001408		109801544|109801545	+1	24|23	1	23	1	tier1	no_errors	ENST00000271332	ensembl	human	known	74_37	silent|missense	51.06|50.00	50.00	SNP	1.000	T	23	23
ADIPOR1	51094	genome.wustl.edu	37	1	202912941	202912941	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:202912941G>A	ENST00000340990.5	-	6	1048	c.750C>T	c.(748-750)atC>atT	p.I250I	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.H161Y|ADIPOR1_ENST00000436244.1_Silent_p.I250I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	250					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCGCCACAATGATGGCAGAAA	0.542													ENSG00000159346																																					0													82.0	70.0	74.0					1																	202912941		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.750C>T	1.37:g.202912941G>A			B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	NULL	p.H161Y	ENST00000340990.5	37	c.481	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072164	0.76415	.	.	ENSG00000159346	ENST00000367254	T	0.42900	0.96	5.99	5.99	0.97316	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.30213	N	0.797514	.	.	.	.	.	.	T	0.05971	-1.0853	6	0.02654	T	1	.	13.9437	0.64071	0.0:0.0:0.8482:0.1518	.	.	.	.	Y	161	ENSP00000356223:H161Y	ENSP00000356223:H161Y	H	-	1	0	ADIPOR1	201179564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.728000	0.62000	2.840000	0.97914	0.655000	0.94253	CAT	-	ADIPOR1	-	NULL		0.542	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR1	HGNC	protein_coding	OTTHUMT00000099160.2	0	0	0	52	52	15	0.00	0.00	G	NM_015999		202912941	-1	25	1	40	8	tier1	no_errors	ENST00000367254	ensembl	human	known	74_37	missense	38.46	11.11	SNP	1.000	A	25	40
CYB5R4	51167	genome.wustl.edu	37	6	84569507	84569507	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:84569507G>A	ENST00000369681.5	+	1	146	c.6G>A	c.(4-6)ctG>ctA	p.L2L	CYB5R4_ENST00000369679.4_5'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	2					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TGAAGATGCTGAACGTCCCTT	0.711											OREG0017553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000065615																									Esophageal Squamous(86;1289 1332 25971 40349 52675)												0													19.0	24.0	22.0					6																	84569507		2201	4298	6499	SO:0001819	synonymous_variant	0			-	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.6G>A	6.37:g.84569507G>A		1230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/D-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_DH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd	p.L2	ENST00000369681.5	37	c.6	CCDS5000.2	6																																																																																			-	CYB5R4	-	NULL		0.711	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	HGNC	protein_coding	OTTHUMT00000041362.4	0	0	0	205	205	14	0.00	0.00	G	NM_016230		84569507	+1	36	0	138	4	tier1	no_errors	ENST00000369681	ensembl	human	known	74_37	silent	20.69	0.00	SNP	1.000	A	36	138
CYP2W1	54905	genome.wustl.edu	37	7	1024181	1024181	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:1024181C>T	ENST00000308919.7	+	2	321	c.308C>T	c.(307-309)gCc>gTc	p.A103V	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A47V	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	103					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCTCCCATCGCCATCTTCCAG	0.721													ENSG00000073067																																					0													10.0	13.0	12.0					7																	1024181		2099	4190	6289	SO:0001583	missense	0			-	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.308C>T	7.37:g.1024181C>T	ENSP00000310149:p.Ala103Val			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A103V	ENST00000308919.7	37	c.308	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142369	0.37825	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.70164	-0.46;-0.46	5.3	4.42	0.53409	.	0.215480	0.49305	D	0.000155	T	0.63248	0.2495	L	0.40543	1.245	0.09310	N	0.999994	B;P	0.45212	0.409;0.853	B;P	0.48141	0.281;0.568	T	0.58544	-0.7618	10	0.87932	D	0	.	9.4837	0.38917	0.0:0.7804:0.1433:0.0763	.	47;103	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	V	103;47	ENSP00000310149:A103V;ENSP00000344178:A47V	ENSP00000310149:A103V	A	+	2	0	CYP2W1	990707	0.306000	0.24490	0.805000	0.32314	0.978000	0.69477	1.821000	0.39041	1.220000	0.43490	0.478000	0.44815	GCC	-	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.721	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	0	0	0	23	23	14	0.00	0.00	C	NM_017781		1024181	+1	4	0	12	5	tier1	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	25.00	0.00	SNP	0.428	T	4	12
GALNT9	50614	genome.wustl.edu	37	12	132905601	132905601	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:132905601G>A	ENST00000328957.8	-	1	188	c.189C>T	c.(187-189)atC>atT	p.I63I	RP13-895J2.7_ENST00000537720.1_RNA	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	63					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGCGCTGCAGGATGGCCTCAC	0.736													ENSG00000182870																									Colon(186;2147 2752 13553 41466)												0													15.0	21.0	19.0					12																	132905601		689	1587	2276	SO:0001819	synonymous_variant	0			-	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.189C>T	12.37:g.132905601G>A			Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I63	ENST00000328957.8	37	c.189		12																																																																																			-	GALNT9	-	NULL		0.736	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	0	0	0	97	97	13	0.00	0.00	G	NM_001122636		132905601	-1	27	0	43	3	tier1	no_errors	ENST00000328957	ensembl	human	known	74_37	silent	38.57	0.00	SNP	1.000	A	27	43
GOLGA6L2	283685	genome.wustl.edu	37	15	23686589	23686589	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:23686589C>T	ENST00000567107.1	-	8	1085	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.E345K|GOLGA6L2_ENST00000345070.5_Missense_Mutation_p.E72K			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	345	Glu-rich.									breast(1)|endometrium(7)	8						tcctcctgctcccgcagcttc	0.607													ENSG00000174450																																					0																																										SO:0001583	missense	0			-	AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1033G>A	15.37:g.23686589C>T	ENSP00000454407:p.Glu345Lys		A1L301	Missense_Mutation	SNP	prints_Tropomyosin	p.E345K	ENST00000567107.1	37	c.1033		15	.	.	.	.	.	.	.	.	.	.	N	1.983	-0.433767	0.04669	.	.	ENSG00000174450	ENST00000345070;ENST00000312015	T;T	0.50277	0.75;2.79	.	.	.	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.15578	-1.0432	6	0.25751	T	0.34	.	.	.	.	.	345	Q8N9W4	GG6L2_HUMAN	K	72;345	ENSP00000344626:E72K;ENSP00000307928:E345K	ENSP00000307928:E345K	E	-	1	0	GOLGA6L2	21237682	0.008000	0.16893	0.008000	0.14137	0.000000	0.00434	1.129000	0.31381	-0.891000	0.03940	0.000000	0.15137	GAG	-	GOLGA6L2	-	prints_Tropomyosin		0.607	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	0	0	0	54	54	11	0.00	0.00	C	NM_182561		23686589	-1	23	1	32	7	tier1	no_errors	ENST00000312015	ensembl	human	known	74_37	missense	41.82	12.50	SNP	0.010	T	23	32
ITGA2B	3674	genome.wustl.edu	37	17	42457510	42457510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:42457510C>A	ENST00000262407.5	-	17	1643	c.1612G>T	c.(1612-1614)Gag>Tag	p.E538*	ITGA2B_ENST00000353281.4_Nonsense_Mutation_p.E538*|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	538					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGCTGCAGCTCGGCATTTAGG	0.677													ENSG00000005961																																					0													31.0	36.0	34.0					17																	42457510		2202	4300	6502	SO:0001587	stop_gained	0			-		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1612G>T	17.37:g.42457510C>A	ENSP00000262407:p.Glu538*		B2RCY8|O95366|Q14443|Q17R67	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E538*	ENST00000262407.5	37	c.1612	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338687	0.81911	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	.	.	.	5.38	4.35	0.52113	.	0.230379	0.22065	N	0.065106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.791	0.63140	0.1542:0.8458:0.0:0.0	.	.	.	.	X	538	.	ENSP00000262407:E538X	E	-	1	0	ITGA2B	39813036	1.000000	0.71417	0.950000	0.38849	0.321000	0.28281	3.464000	0.53057	2.513000	0.84729	0.561000	0.74099	GAG	-	ITGA2B	-	pfam_Integrin_alpha-2		0.677	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	0	0	0	33	33	6	0.00	0.00	C			42457510	-1	4	0	34	7	tier1	no_errors	ENST00000262407	ensembl	human	known	74_37	nonsense	10.53	0.00	SNP	0.997	A	4	34
IVL	3713	genome.wustl.edu	37	1	152883368	152883368	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:152883368C>T	ENST00000368764.3	+	2	1159	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L	IVL_ENST00000392667.2_Silent_p.L219L			P07476	INVO_HUMAN	involucrin	365	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcTGGGGCTCCCAGagcagc	0.657													ENSG00000163207																																					0													13.0	13.0	13.0					1																	152883368		2057	4048	6105	SO:0001819	synonymous_variant	0			-	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1095C>T	1.37:g.152883368C>T			Q5T7P4	Silent	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.L365	ENST00000368764.3	37	c.1095	CCDS1030.1	1																																																																																			-	IVL	-	NULL		0.657	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	0	0	0	72	72	9	0.00	0.00	C	NM_005547		152883368	+1	9	0	33	0	tier1	no_errors	ENST00000368764	ensembl	human	known	74_37	silent	21.43	0.00	SNP	0.000	T	9	33
PKD1P1	339044	genome.wustl.edu	37	16	16415150	16415150	+	IGR	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:16415150G>A	ENST00000537112.1	+	0	0					NR_036447.1																						ACGTTGTGGTGGAAAACAGCG	0.677													ENSG00000183889																																					0																																										SO:0001628	intergenic_variant	0			-																													16.37:g.16415150G>A				R	SNP	-	NULL	ENST00000537112.1	37	NULL		16																																																																																			-	AC138969.4	-	-		0.677	AC138969.4-005	KNOWN	non_canonical_other|basic	processed_transcript	LOC101930008	Clone_based_vega_gene	protein_coding	OTTHUMT00000399242.1	0	0	0	327	327	7	0.00	0.00	G			16415150	+1	48	0	263	7	tier1	no_errors	ENST00000536260	ensembl	human	known	74_37	rna	15.43	0.00	SNP	0.271	A	48	263
LTBP4	8425	genome.wustl.edu	37	19	41128389	41128389	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41128389C>A	ENST00000308370.7	+	27	3499	c.3499C>A	c.(3499-3501)Ccc>Acc	p.P1167T	LTBP4_ENST00000204005.9_Missense_Mutation_p.P1130T|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P1100T|LTBP4_ENST00000545697.1_Missense_Mutation_p.P535T|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1168	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCCCGCCGACCCAGCACACC	0.692													ENSG00000090006																																					0													16.0	18.0	17.0					19																	41128389		1906	4109	6015	SO:0001583	missense	0			-	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3499C>A	19.37:g.41128389C>A	ENSP00000311905:p.Pro1167Thr		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P1167T	ENST00000308370.7	37	c.3499		19	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891205	0.52014	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	T;D;T;T	0.83250	-1.37;-1.7;-1.38;-1.35	3.89	3.89	0.44902	.	0.000000	0.36972	N	0.002310	D	0.87645	0.6229	.	.	.	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.982;0.982;0.997	D;D;P;P;P	0.78314	0.991;0.987;0.747;0.628;0.879	D	0.84424	0.0573	9	0.16420	T	0.52	.	15.1206	0.72441	0.0:1.0:0.0:0.0	.	180;388;1100;1168;1130	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	T	1130;535;1167;1100	ENSP00000204005:P1130T;ENSP00000441054:P535T;ENSP00000311905:P1167T;ENSP00000380031:P1100T	ENSP00000204005:P1130T	P	+	1	0	LTBP4	45820229	0.838000	0.29461	1.000000	0.80357	0.619000	0.37552	-0.229000	0.09098	2.168000	0.68352	0.462000	0.41574	CCC	-	LTBP4	-	NULL		0.692	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		0	0	0	33	33	6	0.00	0.00	C	NM_003573		41128389	+1	9	1	20	4	tier1	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	31.03	20.00	SNP	0.934	A	9	20
MUC5B	727897	genome.wustl.edu	37	11	1263008	1263008	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1263008C>T	ENST00000529681.1	+	31	4956	c.4898C>T	c.(4897-4899)cCt>cTt	p.P1633L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P1636L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1633	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGCCGCAGCCTACGAGTAGC	0.667													ENSG00000117983																																					0													23.0	30.0	27.0					11																	1263008		2047	4168	6215	SO:0001583	missense	0			-	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4898C>T	11.37:g.1263008C>T	ENSP00000436812:p.Pro1633Leu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1636L	ENST00000529681.1	37	c.4907	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	8.264	0.811781	0.16537	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21543	2.0;2.19	1.41	1.41	0.22369	.	.	.	.	.	T	0.14056	0.0340	N	0.19112	0.55	0.09310	N	1	B;B	0.31893	0.345;0.345	B;B	0.32289	0.143;0.143	T	0.26224	-1.0109	9	0.87932	D	0	.	9.9372	0.41559	0.0:1.0:0.0:0.0	.	2326;1636	A7Y9J9;E9PBJ0	.;.	L	1633;1636;1634;1703	ENSP00000436812:P1633L;ENSP00000415793:P1636L	ENSP00000343037:P1634L	P	+	2	0	MUC5B	1219584	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.177000	0.16801	1.095000	0.41419	0.306000	0.20318	CCT	-	MUC5B	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	0	0	0	36	36	7	0.00	0.00	C	XM_001126093		1263008	+1	5	0	18	3	tier1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	21.74	0.00	SNP	0.004	T	5	18
PRELID1P1	728666	genome.wustl.edu	37	6	126964996	126964996	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr6:126964996C>T	ENST00000567272.1	+	0	363									PRELI domain containing 1 pseudogene 1																		GCGACTGTTTCCTGCCAATGT	0.572													ENSG00000217325																																					0																																												0			-			6q22.32	2012-04-23			ENSG00000217325	ENSG00000217325			43886	pseudogene	pseudogene							Standard	NG_022903		Approved				OTTHUMG00000015520		6.37:g.126964996C>T				R	SNP	-	NULL	ENST00000567272.1	37	NULL		6																																																																																			-	PRELID1P1	-	-		0.572	PRELID1P1-002	KNOWN	basic	processed_transcript	PRELID1P1	HGNC	pseudogene	OTTHUMT00000436205.1	0	0	0	78	78	13	0.00	0.00	C	NG_022903		126964996	+1	17	0	52	6	tier1	no_errors	ENST00000567272	ensembl	human	known	74_37	rna	24.64	0.00	SNP	1.000	T	17	52
SPTBN4	57731	genome.wustl.edu	37	19	41019298	41019298	+	Missense_Mutation	SNP	G	G	A	rs566193157		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:41019298G>A	ENST00000352632.3	+	14	2688	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E868K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E868K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E868K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E868K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	868					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGTGACCGAAGTGGCGGC	0.682													ENSG00000160460	G|||	1	0.000199681	0.0008	0.0	5008	,	,		14679	0.0		0.0	False		,,,				2504	0.0																0													22.0	24.0	23.0					19																	41019298		2201	4297	6498	SO:0001583	missense	0			-	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2602G>A	19.37:g.41019298G>A	ENSP00000263373:p.Glu868Lys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E868K	ENST00000352632.3	37	c.2602	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523364	0.64747	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.51817	0.69;0.69;0.69	3.39	3.39	0.38822	.	0.424075	0.20294	N	0.095162	T	0.54367	0.1854	L	0.45352	1.415	0.80722	D	1	D;D	0.71674	0.998;0.99	P;P	0.59012	0.837;0.85	T	0.53507	-0.8429	10	0.37606	T	0.19	.	14.0505	0.64732	0.0:0.0:1.0:0.0	.	868;868	Q9H254;Q71S06	SPTN4_HUMAN;.	K	868	ENSP00000263373:E868K;ENSP00000340345:E868K;ENSP00000340741:E868K	ENSP00000340345:E868K	E	+	1	0	SPTBN4	45711138	1.000000	0.71417	0.999000	0.59377	0.095000	0.18619	6.321000	0.72881	1.918000	0.55548	0.313000	0.20887	GAA	-	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.682	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	0	0	0	38	38	20	0.00	0.00	G			41019298	+1	12	0	20	3	tier1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	37.50	0.00	SNP	0.999	A	12	20
SSC4D	136853	genome.wustl.edu	37	7	76029867	76029868	+	Silent	DNP	GG	GG	AA			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr7:76029867_76029868GG>AA	ENST00000275560.3	-	4	557_558	c.210_211CC>TT	c.(208-213)cgCCtg>cgTTtg	p.70_71RL>RL	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATGACTTCCAGGCGGCCCCGGC	0.683													ENSG00000146700																																					0																																										SO:0001819	synonymous_variant	0			-																												ENST00000275560.3:c.210_211delinsAA	7.37:g.76029867_76029868delinsAA				Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.L71|p.R70	ENST00000275560.3	37	c.211|c.210	CCDS5585.1	7																																																																																			-	SRCRB4D	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.683	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	0	0	0	39	43|39	8	0.00	0.00	G			76029867|76029868	-1	14	0	35|34	3	tier1	no_errors	ENST00000275560	ensembl	human	known	74_37	silent	28.57|29.17	0.00	SNP	1.000|0.984	A	14	34
STARD13	90627	genome.wustl.edu	37	13	33704189	33704189	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:33704189G>A	ENST00000336934.5	-	5	741	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	STARD13_ENST00000255486.4_Missense_Mutation_p.R201C|STARD13_ENST00000399365.3_Missense_Mutation_p.R91C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	209					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTGGCTGCGACTGTCGCTG	0.627													ENSG00000133121																																					0													33.0	34.0	34.0					13																	33704189		2203	4300	6503	SO:0001583	missense	0			-	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.625C>T	13.37:g.33704189G>A	ENSP00000338785:p.Arg209Cys		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R209C	ENST00000336934.5	37	c.625	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259473	0.39995	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.07114	3.22;3.23;3.23	5.7	2.61	0.31194	.	0.140329	0.64402	D	0.000017	T	0.23766	0.0575	M	0.70595	2.14	0.80722	D	1	D;B;B;B	0.76494	0.999;0.103;0.009;0.029	P;B;B;B	0.62184	0.899;0.033;0.006;0.013	T	0.02179	-1.1200	10	0.56958	D	0.05	.	14.2324	0.65903	0.0:0.0:0.4543:0.5457	.	201;174;209;201	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	C	91;201;209;201	ENSP00000382300:R91C;ENSP00000255486:R201C;ENSP00000338785:R209C	ENSP00000255486:R201C	R	-	1	0	STARD13	32602189	0.407000	0.25352	0.412000	0.26496	0.308000	0.27856	1.108000	0.31123	0.714000	0.32081	0.655000	0.94253	CGC	-	STARD13	-	NULL		0.627	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	0	0	0	30	30	11	0.00	0.00	G	NM_001243466		33704189	-1	11	1	11	3	tier1	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	50.00	25.00	SNP	0.777	A	11	11
ADAMTS7	11173	genome.wustl.edu	37	15	79058437	79058437	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:79058437C>T	ENST00000388820.4	-	19	4026	c.3816G>A	c.(3814-3816)ctG>ctA	p.L1272L	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1272					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCACCCTCCAGAGCTGGCT	0.642													ENSG00000136378																																					0													22.0	23.0	23.0					15																	79058437		2180	4287	6467	SO:0001819	synonymous_variant	0			-	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3816G>A	15.37:g.79058437C>T			Q14F51|Q6P7J9	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L1272	ENST00000388820.4	37	c.3816	CCDS32303.1	15																																																																																			-	ADAMTS7	-	NULL		0.642	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	0	0	0	246	246	1	0.00	0.00	C	NM_014272		79058437	-1	53	0	113	1	tier1	no_errors	ENST00000388820	ensembl	human	known	74_37	silent	31.93	0.00	SNP	0.000	T	53	113
ANKRD18A	253650	genome.wustl.edu	37	9	38577922	38577922	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:38577922G>A	ENST00000399703.5	-	13	2845	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	ANKRD18A_ENST00000313339.3_5'Flank|ANKRD18A_ENST00000607974.1_5'Flank|ANKRD18A_ENST00000357072.5_5'Flank|ANKRD18A_ENST00000566717.2_5'Flank	NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	824										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						ATCCAGCTCCGATTTATATTC	0.318													ENSG00000180071																																					0													13.0	10.0	11.0					9																	38577922		681	1567	2248	SO:0001583	missense	0			-	AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.2471C>T	9.37:g.38577922G>A	ENSP00000382610:p.Ser824Leu		A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S824L	ENST00000399703.5	37	c.2471	CCDS55311.1	9	.	.	.	.	.	.	.	.	.	.	G	0.324	-0.959893	0.02267	.	.	ENSG00000180071	ENST00000399703	T	0.28069	1.63	1.53	0.572	0.17357	.	.	.	.	.	T	0.13884	0.0336	N	0.11255	0.115	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.30387	-0.9980	9	0.23891	T	0.37	.	5.5743	0.17215	0.0:0.633:0.367:0.0	.	824	Q8IVF6	AN18A_HUMAN	L	824	ENSP00000382610:S824L	ENSP00000382610:S824L	S	-	2	0	ANKRD18A	38567922	0.021000	0.18746	0.021000	0.16686	0.013000	0.08279	-0.695000	0.05109	0.190000	0.20209	-0.723000	0.03601	TCG	-	ANKRD18A	-	NULL		0.318	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD18A	HGNC	protein_coding	OTTHUMT00000052506.3	0	0	0	202	202	4	0.00	0.00	G			38577922	-1	44	1	86	0	tier1	no_errors	ENST00000399703	ensembl	human	known	74_37	missense	33.85	100.00	SNP	0.044	A	44	86
ARHGAP28	79822	genome.wustl.edu	37	18	6729895	6729895	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:6729895C>T	ENST00000383472.4	+	1	179	c.75C>T	c.(73-75)gcC>gcT	p.A25A	RP11-91I8.3_ENST00000577327.1_RNA|ARHGAP28_ENST00000400091.2_Silent_p.A25A			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	25					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCCCCAACGCCGAGTCGCGCT	0.766													ENSG00000088756																																					0																																										SO:0001819	synonymous_variant	0			-	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.75C>T	18.37:g.6729895C>T			A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A25	ENST00000383472.4	37	c.75		18																																																																																			-	ARHGAP28	-	NULL		0.766	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	0	0	0	27	27	3	0.00	0.00	C	XM_371108		6729895	+1	5	1	8	1	tier1	no_errors	ENST00000400091	ensembl	human	known	74_37	silent	38.46	50.00	SNP	0.008	T	5	8
CBFA2T3	863	genome.wustl.edu	37	16	88967953	88967953	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:88967953G>A	ENST00000268679.4	-	2	659	c.263C>T	c.(262-264)tCc>tTc	p.S88F	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.S27F|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.S27F|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.S88F	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	88	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCCCCCTGGGATGCGGCAGG	0.692			T	RUNX1	AML								ENSG00000129993																												Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0													17.0	22.0	21.0					16																	88967953		2179	4283	6462	SO:0001583	missense	0			-	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.263C>T	16.37:g.88967953G>A	ENSP00000268679:p.Ser88Phe		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.S88F	ENST00000268679.4	37	c.263	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713176	0.30413	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000360302	T;T;T;T	0.50813	1.43;0.81;0.73;1.43	3.95	3.95	0.45737	.	0.302825	0.33199	N	0.005161	T	0.50956	0.1646	L	0.38175	1.15	0.51767	D	0.999933	P;P;P;P	0.52692	0.93;0.954;0.955;0.841	P;P;P;P	0.55999	0.459;0.653;0.62;0.789	T	0.54846	-0.8232	10	0.72032	D	0.01	-19.4504	11.9439	0.52918	0.0:0.1761:0.8239:0.0	.	88;88;88;27	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	F	27;88;88;27	ENSP00000332122:S27F;ENSP00000268679:S88F;ENSP00000395739:S88F;ENSP00000353449:S27F	ENSP00000268679:S88F	S	-	2	0	CBFA2T3	87495454	0.968000	0.33430	0.782000	0.31804	0.211000	0.24417	0.871000	0.28023	1.918000	0.55548	0.491000	0.48974	TCC	-	CBFA2T3	-	NULL		0.692	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	0	0	0	52	52	1	0.00	0.00	G	NM_005187		88967953	-1	15	0	38	0	tier1	no_errors	ENST00000268679	ensembl	human	known	74_37	missense	28.30	0.00	SNP	0.998	A	15	38
DNM1P47	100216544	genome.wustl.edu	37	15	102304934	102304936	+	RNA	DEL	TCT	TCT	-	rs377396518|rs527958203		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:102304934_102304936delTCT	ENST00000561463.1	+	0	12980_12982									DNM1 pseudogene 47																		AAGGAGTTCATCTTCTCAGAGCT	0.586													ENSG00000259660																																					0																																												0				AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304937_102304939delTCT				R	DEL	-	NULL	ENST00000561463.1	37	NULL		15																																																																																				DNM1P47	-	-		0.586	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	0	0	0	45	45	2	0.00	0.00	TCT	NG_009149		102304936	+1	3	0	27	1	tier1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	10.00	0.00	DEL	1.000:1.000:1.000	-	3	27
ENAH	55740	genome.wustl.edu	37	1	225702465	225702465	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:225702465G>A	ENST00000366844.3	-	7	1502	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	ENAH_ENST00000366843.2_Missense_Mutation_p.P351S|ENAH_ENST00000284563.6_Missense_Mutation_p.P598S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	351	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		gggggaggagggggcggtgga	0.657													ENSG00000154380																																					0													6.0	8.0	7.0					1																	225702465		2030	3951	5981	SO:0001583	missense	0			-	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1051C>T	1.37:g.225702465G>A	ENSP00000355809:p.Pro351Ser		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.P351S	ENST00000366844.3	37	c.1051	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069827	0.55539	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;D	0.85484	-0.58;-0.58;-1.99	4.94	4.03	0.46877	.	0.599099	0.16339	N	0.218783	D	0.91536	0.7327	M	0.81802	2.56	0.47276	D	0.999373	D;D	0.69078	0.996;0.997	D;D	0.78314	0.991;0.986	D	0.89324	0.3642	10	0.30078	T	0.28	-0.0818	13.0843	0.59132	0.0785:0.0:0.9215:0.0	.	351;351	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	S	351;351;598;313	ENSP00000355809:P351S;ENSP00000355808:P351S;ENSP00000284563:P598S	ENSP00000284563:P598S	P	-	1	0	ENAH	223769088	1.000000	0.71417	0.033000	0.17914	0.789000	0.44602	3.468000	0.53086	1.087000	0.41251	0.460000	0.39030	CCT	-	EH	-	NULL		0.657	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	EH	HGNC	protein_coding	OTTHUMT00000357426.2	0	0	0	16	16	0	0.00	0.00	G	NM_018212		225702465	-1	6	0	6	0	tier1	no_errors	ENST00000366844	ensembl	human	known	74_37	missense	50.00	0.00	SNP	0.959	A	6	6
BEND7	222389	genome.wustl.edu	37	10	13570599	13570599	+	5'Flank	DEL	A	A	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr10:13570599delA	ENST00000396900.2	-	0	0				RP11-214D15.2_ENST00000438431.1_RNA|BEND7_ENST00000396898.2_5'Flank			Q8N7W2	BEND7_HUMAN	BEN domain containing 7							extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						cagcggcggcagcggcagcgg	0.761													ENSG00000227175																																					0																																										SO:0001631	upstream_gene_variant	0				BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699		10.37:g.13570599delA	Exception_encountered		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	R	DEL	-	NULL	ENST00000396900.2	37	NULL		10																																																																																				RP11-214D15.2	-	-		0.761	BEND7-202	KNOWN	basic	protein_coding	ENSG00000227175	Clone_based_vega_gene	protein_coding		0	0	0	8	8	1	0.00	0.00	A	NM_152751		13570599	+1	5	1	3	1	tier1	no_errors	ENST00000438431	ensembl	human	known	74_37	rna	62.50	50.00	DEL	0.663	-	5	3
LINC01205	401082	genome.wustl.edu	37	3	109136640	109136640	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:109136640C>T	ENST00000497996.1	+	0	279																											gcaattctcccacctcagcct	0.502													ENSG00000228980																																					0													84.0	75.0	77.0					3																	109136640		692	1591	2283			0			-																													3.37:g.109136640C>T				R	SNP	-	NULL	ENST00000497996.1	37	NULL		3																																																																																			-	RP11-702L6.4	-	-		0.502	RP11-702L6.4-002	KNOWN	basic	lincRNA	ENSG00000228980	Clone_based_vega_gene	lincRNA	OTTHUMT00000353892.1	0	0	0	48	48	0	0.00	0.00	C			109136640	+1	23	0	32	0	tier1	no_errors	ENST00000489670	ensembl	human	known	74_37	rna	41.82	0.00	SNP	0.007	T	23	32
LINC01098	285501	genome.wustl.edu	37	4	178887828	178887828	+	Splice_Site	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr4:178887828G>A	ENST00000507870.1	+	4	518		c.e4-1																		lung(8)|prostate(1)	9						ttttAATACAGGGTcaagctg	0.448													ENSG00000231171																																					0													1.0	1.0	1.0					4																	178887828		93	91	184	SO:0001630	splice_region_variant	0			-																												ENST00000507870.1:c.57-1G>A	4.37:g.178887828G>A				Splice_Site	SNP	-	e2-1	ENST00000507870.1	37	c.57-1		4	.	.	.	.	.	.	.	.	.	.	G	2.014	-0.426263	0.04701	.	.	ENSG00000231171	ENST00000507870	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-389E17.1	179124822	0.009000	0.17119	0.004000	0.12327	0.004000	0.04260	0.603000	0.24149	0.192000	0.20272	0.195000	0.17529	.	-	RP11-389E17.1	-	-		0.448	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000231171	Clone_based_vega_gene	protein_coding	OTTHUMT00000361922.1	0	0	0	75	75	0	0.00	0.00	G		Intron	178887828	+1	33	0	25	0	tier1	no_errors	ENST00000507870	ensembl	human	putative	74_37	splice_site	56.90	0.00	SNP	0.004	A	33	25
RP11-782C8.2	0	genome.wustl.edu	37	1	143194212	143194212	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:143194212C>T	ENST00000412204.2	-	0	2417				RP11-782C8.1_ENST00000438000.1_lincRNA																							TCTGTTGAGTCCTATACTAGT	0.398													ENSG00000232274																																					0																																												0			-																													1.37:g.143194212C>T				R	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			-	RP11-782C8.2	-	-		0.398	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	0	0	0	62	62	0	0.00	0.00	C			143194212	-1	15	0	26	0	tier1	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	36.59	0.00	SNP	0.001	T	15	26
LINC01347	731275	genome.wustl.edu	37	1	243202738	243202738	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:243202738C>T	ENST00000450226.1	-	0	300																											ATAGTCAGTTCTTCATTGAAT	0.299													ENSG00000231512																																					0																																												0			-																													1.37:g.243202738C>T				R	SNP	-	NULL	ENST00000450226.1	37	NULL		1																																																																																			-	RP11-261C10.2	-	-		0.299	RP11-261C10.2-003	KNOWN	basic	lincRNA	ENSG00000231512	Clone_based_vega_gene	lincRNA	OTTHUMT00000096161.1	0	0	0	122	122	0	0.00	0.00	C			243202738	-1	19	0	55	0	tier1	no_errors	ENST00000420830	ensembl	human	known	74_37	rna	25.68	0.00	SNP	0.010	T	19	55
SSTR5-AS1	146336	genome.wustl.edu	37	16	1116292	1116292	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:1116292C>T	ENST00000569832.1	-	0	664				RP11-161M6.5_ENST00000564390.1_lincRNA	NR_027242.1				SSTR5 antisense RNA 1																		GGGTTGGGGTCCGCGGCCGCG	0.721													ENSG00000261720																																					0																																												0			-	AK056814		16p13.3	2012-10-12	2012-08-15		ENSG00000261713	ENSG00000261713		"""Long non-coding RNAs"""	26502	non-coding RNA	RNA, long non-coding			"""SSTR5 antisense RNA 1 (non-protein coding)"""				Standard	NR_027242		Approved		uc002cko.3		OTTHUMG00000172831		16.37:g.1116292C>T				R	SNP	-	NULL	ENST00000569832.1	37	NULL		16																																																																																			-	RP11-161M6.5	-	-		0.721	SSTR5-AS1-001	KNOWN	basic	lincRNA	ENSG00000261720	Clone_based_vega_gene	processed_transcript	OTTHUMT00000420783.1	0	0	0	30	30	4	0.00	0.00	C	NR_02724		1116292	+1	12	1	27	5	tier1	no_errors	ENST00000564390	ensembl	human	known	74_37	rna	30.77	16.67	SNP	0.349	T	12	27
FAM230A	653203	genome.wustl.edu	37	22	20710837	20710837	+	Missense_Mutation	SNP	C	C	T	rs566296516	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr22:20710837C>T	ENST00000434783.3	+	8	2753	c.2569C>T	c.(2569-2571)Ccg>Tcg	p.P857S	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		AACGAGGACGCCGTCCAGGGC	0.672													ENSG00000188280	N|||	3	0.000599042	0.0023	0.0	5008	,	,		14775	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			-	JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.2569C>T	22.37:g.20710837C>T	ENSP00000463576:p.Pro857Ser			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.P857S	ENST00000434783.3	37	c.2569		22																																																																																			-	FAM230A	-	NULL		0.672	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	0	0	0	272	272	1	0.00	0.00	C			20710837	+1	65	0	161	0	tier1	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	28.76	0.00	SNP	0.000	T	65	161
FBLL1	345630	genome.wustl.edu	37	5	167956784	167956784	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr5:167956784G>A	ENST00000338333.4	+	1	664	c.275G>A	c.(274-276)aGg>aAg	p.R92K				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	92					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										AGCCGCCGCAGGAAGGGCGCC	0.771													ENSG00000188573																																					0													2.0	1.0	1.0					5																	167956784		528	1251	1779	SO:0001583	missense	0			-			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.275G>A	5.37:g.167956784G>A	ENSP00000473383:p.Arg92Lys			Missense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.R92K	ENST00000338333.4	37	c.275		5																																																																																			-	FBLL1	-	pirsf_Fibrillarin		0.771	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	FBLL1	HGNC	protein_coding	OTTHUMT00000347089.3	0	0	0	16	16	2	0.00	0.00	G	NR_024356		167956784	+1	7	0	7	0	tier1	no_errors	ENST00000338333	ensembl	human	putative	74_37	missense	50.00	0.00	SNP	0.034	A	7	7
FOXA1	3169	genome.wustl.edu	37	14	38061514	38061514	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:38061514C>T	ENST00000250448.2	-	2	536	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.A126T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	159					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AACGTCTTGGCGTcgccgccg	0.701													ENSG00000129514																																					0													51.0	48.0	49.0					14																	38061514		2203	4300	6503	SO:0001583	missense	0			-	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.475G>A	14.37:g.38061514C>T	ENSP00000250448:p.Ala159Thr		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A159T	ENST00000250448.2	37	c.475	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	C	13.52	2.263220	0.39995	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.17691	2.26;2.26	4.12	3.21	0.36854	Fork-head N-terminal (1);	0.137299	0.47852	D	0.000202	T	0.04907	0.0132	N	0.00926	-1.1	0.28723	N	0.902901	B	0.25169	0.119	B	0.15484	0.013	T	0.16719	-1.0393	10	0.51188	T	0.08	.	6.8061	0.23779	0.0:0.72:0.1819:0.098	.	159	P55317	FOXA1_HUMAN	T	159;126	ENSP00000250448:A159T;ENSP00000440178:A126T	ENSP00000250448:A159T	A	-	1	0	FOXA1	37131265	1.000000	0.71417	0.996000	0.52242	0.024000	0.10985	0.747000	0.26290	0.915000	0.36847	-0.430000	0.05897	GCC	-	FOXA1	-	pfam_Fork-head_N		0.701	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	0	0	0	51	51	2	0.00	0.00	C			38061514	-1	4	0	34	3	tier1	no_errors	ENST00000250448	ensembl	human	known	74_37	missense	10.26	0.00	SNP	1.000	T	4	34
HERC2P2	400322	genome.wustl.edu	37	15	23326283	23326283	+	RNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:23326283C>T	ENST00000560464.1	-	0	2020									hect domain and RLD 2 pseudogene 2																		TACCCTATATCGATTCCCTCA	0.378													ENSG00000140181																																					0																																												0			-	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23326283C>T				R	SNP	-	NULL	ENST00000560464.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	C	2.641	-0.284086	0.05642	.	.	ENSG00000140181	ENST00000454333;ENST00000422607	.	.	.	2.5	1.54	0.23209	.	.	.	.	.	T	0.11793	0.0287	.	.	.	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.38286	-0.9668	6	0.02654	T	1	.	3.5027	0.07679	0.0:0.563:0.0:0.437	.	281	E7EMG2	.	N	98;281	.	ENSP00000400381:D281N	D	-	1	0	AC091565.1	20877724	1.000000	0.71417	0.999000	0.59377	0.154000	0.21943	2.654000	0.46699	1.389000	0.46526	0.184000	0.17185	GAT	-	HERC2P2	-	-		0.378	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	0	0	0	174	174	0	0.00	0.00	C			23326283	-1	68	0	73	1	tier1	no_errors	ENST00000560464	ensembl	human	known	74_37	rna	48.23	0.00	SNP	1.000	T	68	73
GOLGA6L4	643707	genome.wustl.edu	37	15	84908564	84908564	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:84908564C>T	ENST00000510439.2	+	6	520	c.458C>T	c.(457-459)cCa>cTa	p.P153L	GOLGA6L4_ENST00000422563.2_5'Flank|GOLGA6L4_ENST00000424966.1_5'Flank	NM_001267536.1	NP_001254465.1	A6NEF3	GG6L4_HUMAN	golgin A6 family-like 4	153																	CCAGAGCCCCCAGCAGGGCCA	0.517													ENSG00000184206																																					0																																										SO:0001583	missense	0			-	BC101294	CCDS73774.1	15q25.2	2012-11-16	2010-02-12		ENSG00000184206	ENSG00000184206			27256	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 4"""			12477932	Standard	NG_006151		Approved		uc021stn.2	A6NEF3	OTTHUMG00000163050	ENST00000510439.2:c.458C>T	15.37:g.84908564C>T	ENSP00000421586:p.Pro153Leu		D6REZ9	Missense_Mutation	SNP	NULL	p.P153L	ENST00000510439.2	37	c.458		15	.	.	.	.	.	.	.	.	.	.	.	6.336	0.430061	0.11987	.	.	ENSG00000184206	ENST00000510439	T	0.28069	1.63	.	.	.	.	.	.	.	.	T	0.29158	0.0725	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30208	-0.9986	5	0.51188	T	0.08	.	7.4334	0.27141	0.0:0.9998:0.0:2.0E-4	.	.	.	.	L	153	ENSP00000421586:P153L	ENSP00000421586:P153L	P	+	2	0	GOLGA6L4	82699568	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.062000	0.30555	-0.000000	0.14550	0.000000	0.15137	CCA	-	GOLGA6L4	-	NULL		0.517	GOLGA6L4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate_longest	protein_coding	GOLGA6L4	HGNC	protein_coding	OTTHUMT00000371478.2	0	0	0	63	63	1	0.00	0.00	C	NM_001267536		84908564	+1	11	0	60	1	tier1	no_errors	ENST00000510439	ensembl	human	novel	74_37	missense	15.49	0.00	SNP	0.007	T	11	60
IRX5	10265	genome.wustl.edu	37	16	54965327	54965329	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:54965327_54965329delGCC	ENST00000394636.4	+	1	554_556	c.217_219delGCC	c.(217-219)gccdel	p.A78del	IRX5_ENST00000320990.5_In_Frame_Del_p.A78del|IRX5_ENST00000560154.1_In_Frame_Del_p.A78del|CRNDE_ENST00000560208.1_lincRNA|IRX5_ENST00000558597.1_5'Flank			P78411	IRX5_HUMAN	iroquois homeobox 5	78	Poly-Ala.				embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						cgaccccgcggccgccgccgccg	0.754													ENSG00000176842																																					0																																										SO:0001651	inframe_deletion	0				U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.217_219delGCC	16.37:g.54965336_54965338delGCC	ENSP00000378132:p.Ala78del		H0YMS7|P78416|Q7Z2E1	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A76in_frame_del	ENST00000394636.4	37	c.217_219	CCDS10751.1	16																																																																																				IRX5	-	NULL		0.754	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	0	0	0	24	24	2	0.00	0.00	GCC			54965329	+1	3	0	16	0	tier1	no_errors	ENST00000394636	ensembl	human	known	74_37	in_frame_del	15.79	0.00	DEL	1.000:1.000:0.492	-	3	16
KRT85	3891	genome.wustl.edu	37	12	52758847	52758847	+	Silent	SNP	G	G	A	rs180717956		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr12:52758847G>A	ENST00000257901.3	-	2	603	c.528C>T	c.(526-528)atC>atT	p.I176I	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	176	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGAGTCTCGATGTAGCCAC	0.617													ENSG00000135443	g|||	1	0.000199681	0.0	0.0	5008	,	,		18250	0.0		0.001	False		,,,				2504	0.0																0													56.0	63.0	61.0					12																	52758847		2203	4296	6499	SO:0001819	synonymous_variant	0			GMAF=0.0005	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.528C>T	12.37:g.52758847G>A			Q9NSB1	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.I176	ENST00000257901.3	37	c.528	CCDS8824.1	12																																																																																			rs180717956	KRT85	-	pfam_IF		0.617	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	0	0	0	80	80	1	0.00	0.00	G	NM_002283		52758847	-1	14	0	34	0	tier1	no_errors	ENST00000257901	ensembl	human	known	74_37	silent	29.17	0.00	SNP	0.453	A	14	34
KRTAP5-5	439915	genome.wustl.edu	37	11	1651391	1651391	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:1651391G>A	ENST00000399676.2	+	1	359	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	107	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTCCAAGGGGGCCTGTGGCT	0.687													ENSG00000185940																																					0													41.0	56.0	51.0					11																	1651391		2188	4285	6473	SO:0001819	synonymous_variant	0			-	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.321G>A	11.37:g.1651391G>A			A8MWN2	Silent	SNP	NULL	p.G107	ENST00000399676.2	37	c.321	CCDS41592.1	11																																																																																			-	KRTAP5-5	-	NULL		0.687	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	0	0	0	48	48	1	0.00	0.00	G			1651391	+1	19	0	22	1	tier1	no_errors	ENST00000399676	ensembl	human	known	74_37	silent	46.34	0.00	SNP	0.753	A	19	22
AL589743.1	0	genome.wustl.edu	37	14	19686458	19686458	+	lincRNA	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:19686458C>T	ENST00000418499.3	+	0	3569																											ATCCCCGTCCCCACCCCACTT	0.617													ENSG00000225210																																					0																																												0			-																													14.37:g.19686458C>T				R	SNP	-	NULL	ENST00000418499.3	37	NULL		14																																																																																			-	AL589743.1	-	-		0.617	AL589743.1-003	KNOWN	basic	lincRNA	LOC440157	Clone_based_vega_gene	lincRNA	OTTHUMT00000317887.3	0	0	0	57	57	2	0.00	0.00	C			19686458	+1	10	0	25	2	tier1	no_errors	ENST00000418499	ensembl	human	known	74_37	rna	28.57	0.00	SNP	0.030	T	10	25
LRRC56	115399	genome.wustl.edu	37	11	554066	554066	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:554066G>T	ENST00000270115.7	+	14	1919	c.1419G>T	c.(1417-1419)caG>caT	p.Q473H		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	473										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGACCTGCAGTCCAGGGGGC	0.697													ENSG00000161328																																					0													53.0	58.0	56.0					11																	554066		2203	4299	6502	SO:0001583	missense	0			-		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1419G>T	11.37:g.554066G>T	ENSP00000270115:p.Gln473His		Q8N3Q4	Missense_Mutation	SNP	NULL	p.Q473H	ENST00000270115.7	37	c.1419	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	G	4.648	0.120386	0.08881	.	.	ENSG00000161328	ENST00000270115	T	0.09445	2.98	3.03	-2.26	0.06867	.	1.808570	0.03619	N	0.236118	T	0.07593	0.0191	N	0.24115	0.695	0.09310	N	1	P	0.39964	0.697	B	0.35353	0.201	T	0.36432	-0.9748	10	0.42905	T	0.14	-14.2101	8.3619	0.32363	0.0:0.5999:0.2463:0.1538	.	473	Q8IYG6	LRC56_HUMAN	H	473	ENSP00000270115:Q473H	ENSP00000270115:Q473H	Q	+	3	2	LRRC56	544066	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.587000	0.05780	-0.423000	0.07394	0.313000	0.20887	CAG	-	LRRC56	-	NULL		0.697	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	0	0	0	39	39	2	0.00	0.00	G	NM_198075		554066	+1	4	0	24	0	tier1	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	14.29	0.00	SNP	0.000	T	4	24
LTBP3	4054	genome.wustl.edu	37	11	65325325	65325326	+	In_Frame_Ins	INS	-	-	CAGCAG	rs535365850|rs577530923|rs71036212	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:65325325_65325326insCAGCAG	ENST00000301873.5	-	1	373_374	c.105_106insCTGCTG	c.(103-108)ctgggc>ctgCTGCTGggc	p.34_35insLL	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Ins_p.34_35insLL	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	34	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ccgcccaggcccagcagcagca	0.812													ENSG00000168056		259	0.0517173	0.0182	0.0504	5008	,	,		4999	0.0258		0.1034	False		,,,				2504	0.0716																0																																										SO:0001652	inframe_insertion	0				AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.100_105dupCTGCTG	11.37:g.65325326_65325331dupCAGCAG	ENSP00000301873:p.Leu33_Leu34dup		O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Ins	INS	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.35in_frame_insLL	ENST00000301873.5	37	c.106_105	CCDS44647.1	11																																																																																				LTBP3	-	NULL		0.812	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	0	0	0	0	0	0	0.00	0.00	-	NM_021070		65325326	-1	0	0	0	0	tier1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_ins	0.00	0.00	INS	1.000:0.996	CAGCAG	0	0
MAGEL2	54551	genome.wustl.edu	37	15	23890900	23890900	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr15:23890900G>A	ENST00000532292.1	-	1	275	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCTGGGGGGGTAGCTGGATT	0.701													ENSG00000254585																																					0													6.0	8.0	7.0					15																	23890900		1846	4016	5862	SO:0001583	missense	0			-	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.181C>T	15.37:g.23890900G>A	ENSP00000433433:p.Pro61Ser			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P61S	ENST00000532292.1	37	c.181		15																																																																																			-	MAGEL2	-	NULL		0.701	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	0	0	0	43	43	3	0.00	0.00	G	NM_019066		23890900	-1	7	0	23	1	tier1	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	23.33	0.00	SNP	0.935	A	7	23
MIR3689A	100500846	genome.wustl.edu	37	9	137742018	137742018	+	RNA	SNP	A	A	G	rs79438120		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr9:137742018A>G	ENST00000578854.1	-	0	0				MIR3689B_ENST00000581772.1_RNA|AL603650.2_ENST00000581079.1_RNA|MIR3689E_ENST00000582479.1_RNA|MIR3689D2_ENST00000580187.1_RNA|MIR3689F_ENST00000579617.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.3_ENST00000582742.1_RNA|AL603650.4_ENST00000583817.1_RNA|MIR3689D1_ENST00000579706.1_RNA|MIR3689C_ENST00000581239.1_RNA	NR_037460.1				microRNA 3689a																		AGGAACCACAATATCACACCT	0.612													ENSG00000264163																																					0																																												0			-			9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137742018A>G				R	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			rs79438120	MIR3689B	-	-		0.612	MIR3689A-201	KNOWN	basic	miRNA	MIR3689B	HGNC	miRNA		0	0	0	44	44	0	0.00	0.00	A	NR_037460		137742018	-1	5	1	26	0	tier1	no_errors	ENST00000581772	ensembl	human	known	74_37	rna	16.13	100.00	SNP	0.000	G	5	26
MIR518F	574472	genome.wustl.edu	37	19	54201659	54201659	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:54201659G>A	ENST00000384973.1	+	0	0				MIR525_ENST00000384978.1_RNA|MIR520B_ENST00000384989.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		TGACCCTCTAGAGGGAAGCGC	0.423													ENSG00000208016																																					0													95.0	89.0	91.0					19																	54201659		1568	3582	5150			0			-			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54201659G>A				R	SNP	-	NULL	ENST00000384973.1	37	NULL		19																																																																																			-	MIR523	-	-		0.423	MIR518F-201	KNOWN	basic	miRNA	MIR523	HGNC	miRNA		0	0	0	100	100	1	0.00	0.00	G	NR_030194		54201659	+1	46	1	55	4	tier1	no_errors	ENST00000385281	ensembl	human	known	74_37	rna	45.54	20.00	SNP	0.024	A	46	55
NPIPA7	101059938	genome.wustl.edu	37	16	16481310	16481310	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr16:16481310G>A	ENST00000530217.2	+	3	437	c.247G>A	c.(247-249)Gat>Aat	p.D83N	NPIPA7_ENST00000422673.2_De_novo_Start_OutOfFrame|NPIPA7_ENST00000327792.5_5'Flank	NM_001282507.1|NM_001282511.1	NP_001269436.1|NP_001269440.1	E9PJI5	NPIA7_HUMAN	nuclear pore complex interacting protein family, member A7	83																	TGGATCCACGGATGTACAGCA	0.493													ENSG00000214967																																					0																																										SO:0001583	missense	0			-		CCDS61864.1	16p13.11	2013-06-11			ENSG00000214967	ENSG00000214967			41982	protein-coding gene	gene with protein product							Standard	NM_001282507		Approved			E9PJI5	OTTHUMG00000166307	ENST00000530217.2:c.247G>A	16.37:g.16481310G>A	ENSP00000431814:p.Asp83Asn			Missense_Mutation	SNP	NULL	p.D83N	ENST00000530217.2	37	c.247		16	.	.	.	.	.	.	.	.	.	.	g	10.24	1.296548	0.23650	.	.	ENSG00000214967	ENST00000530217	T	0.60424	0.19	.	.	.	.	.	.	.	.	T	0.57169	0.2035	.	.	.	.	.	.	.	.	.	.	.	.	T	0.64202	-0.6463	3	0.87932	D	0	.	.	.	.	.	.	.	.	N	83	ENSP00000431814:D83N	ENSP00000431814:D83N	D	+	1	0	RP11-467M13.1	16388811	1.000000	0.71417	0.205000	0.23548	0.207000	0.24258	0.740000	0.26188	0.064000	0.16427	0.064000	0.15345	GAT	-	NPIPA7	-	NULL		0.493	NPIPA7-003	NOVEL	basic|appris_candidate_longest	protein_coding	NPIPA7	HGNC	protein_coding	OTTHUMT00000399247.1	0	0	0	24	24	0	0.00	0.00	G			16481310	+1	10	0	13	0	tier1	no_errors	ENST00000530217	ensembl	human	novel	74_37	missense	43.48	0.00	SNP	0.209	A	10	13
POTEJ	653781	genome.wustl.edu	37	2	131390210	131390210	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:131390210G>A	ENST00000409602.1	+	9	1331	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	427					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						TCCTGACAACGAAAGTGAAGA	0.408													ENSG00000222038																																					0																																										SO:0001583	missense	0			-		CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.1279G>A	2.37:g.131390210G>A	ENSP00000387176:p.Glu427Lys			Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.E427K	ENST00000409602.1	37	c.1279	CCDS59432.1	2	.	.	.	.	.	.	.	.	.	.	.	7.930	0.740548	0.15642	.	.	ENSG00000222038	ENST00000409602	T	0.76839	-1.05	1.19	0.181	0.15073	.	.	.	.	.	T	0.67896	0.2942	L	0.33339	1.005	0.09310	N	1	.	.	.	.	.	.	T	0.60495	-0.7252	7	0.87932	D	0	.	5.0437	0.14473	0.0:0.3837:0.6163:0.0	.	.	.	.	K	427	ENSP00000387176:E427K	ENSP00000387176:E427K	E	+	1	0	POTEJ	131106680	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.137000	0.15995	0.047000	0.15862	0.194000	0.17425	GAA	-	POTEJ	-	NULL		0.408	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	0	0	0	45	45	1	0.00	0.00	G	XM_929706		131390210	+1	17	0	19	2	tier1	no_errors	ENST00000409602	ensembl	human	novel	74_37	missense	47.22	0.00	SNP	0.001	A	17	19
POTEE	445582	genome.wustl.edu	37	2	132021747	132021747	+	Missense_Mutation	SNP	G	G	A	rs369294973		TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:132021747G>A	ENST00000356920.5	+	15	2813	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	907	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GGCCGAGCGGGAAATCGTGCG	0.597													ENSG00000188219																																					0								G	LYS/GLU	3,4091		0,3,2044	33.0	34.0	34.0		2719		0.1	2		34	0,8084		0,0,4042	no	missense	POTEE	NM_001083538.1	56	0,3,6086	AA,AG,GG		0.0,0.0733,0.0246	probably-damaging	907/1076	132021747	3,12175	2047	4042	6089	SO:0001583	missense	0			-	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2719G>A	2.37:g.132021747G>A	ENSP00000439189:p.Glu907Lys		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.E907K	ENST00000356920.5	37	c.2719	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190688	0.58017	7.33E-4	0.0	ENSG00000188219	ENST00000356920	D	0.94613	-3.47	.	.	.	.	.	.	.	.	D	0.96793	0.8953	H	0.95611	3.695	0.80722	D	1	D	0.71674	0.998	P	0.58660	0.843	D	0.94618	0.7810	8	0.87932	D	0	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	907	Q6S8J3	POTEE_HUMAN	K	907	ENSP00000439189:E907K	ENSP00000439189:E907K	E	+	1	0	AC131180.1	131738217	1.000000	0.71417	0.090000	0.20809	0.091000	0.18340	6.504000	0.73704	0.119000	0.18210	0.121000	0.15741	GAA	-	POTEE	-	pfam_Actin-related,smart_Actin-related		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		0	0	0	134	134	1	0.00	0.00	G	NM_001083538		132021747	+1	34	0	57	1	tier1	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	37.36	0.00	SNP	1.000	A	34	57
PRAMEF11	440560	genome.wustl.edu	37	1	12887197	12887197	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:12887197G>A	ENST00000535591.1	-	3	855	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	220					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACTGAGTGGTGAACTGGGTAA	0.527													ENSG00000204513																																					0																																										SO:0001819	synonymous_variant	0			-	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.660C>T	1.37:g.12887197G>A				Silent	SNP	NULL	p.F220	ENST00000535591.1	37	c.660	CCDS53268.1	1																																																																																			-	PRAMEF11	-	NULL		0.527	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		0	0	0	250	250	1	0.00	0.00	G	XM_496341		12887197	-1	40	0	212	0	tier1	no_errors	ENST00000535591	ensembl	human	known	74_37	silent	15.87	0.00	SNP	0.001	A	40	212
PRSS42	339906	genome.wustl.edu	37	3	46875510	46875510	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:46875510C>T	ENST00000429665.1	-	1	75	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	PRSS42_ENST00000447340.1_5'Flank	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	26					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						GCCATGCCCGCCCAGTTCTGC	0.731													ENSG00000178055																																					0													5.0	8.0	7.0					3																	46875510		1779	3887	5666	SO:0001583	missense	0			-		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.76G>A	3.37:g.46875510C>T	ENSP00000401701:p.Ala26Thr			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A26T	ENST00000429665.1	37	c.76	CCDS46816.1	3	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217013	0.58560	.	.	ENSG00000178055	ENST00000429665	D	0.88741	-2.42	3.05	2.15	0.27550	.	0.542374	0.13920	N	0.353644	T	0.79293	0.4421	L	0.27053	0.805	0.09310	N	1	P	0.47762	0.9	B	0.40506	0.331	T	0.67852	-0.5563	10	0.29301	T	0.29	.	7.3808	0.26854	0.2602:0.7398:0.0:0.0	.	26	Q7Z5A4	PRS42_HUMAN	T	26	ENSP00000401701:A26T	ENSP00000401701:A26T	A	-	1	0	PRSS42	46850514	0.000000	0.05858	0.003000	0.11579	0.119000	0.20118	0.102000	0.15272	0.805000	0.34159	0.407000	0.27541	GCG	-	PRSS42	-	NULL		0.731	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS42	HGNC	protein_coding	OTTHUMT00000344347.1	0	0	0	117	117	4	0.00	0.00	C	NM_182702		46875510	-1	59	0	94	0	tier1	no_errors	ENST00000429665	ensembl	human	known	74_37	missense	38.56	0.00	SNP	0.005	T	59	94
PTMAP5	150928	genome.wustl.edu	37	13	82265085	82265085	+	RNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr13:82265085G>A	ENST00000607242.1	+	0	1040									prothymosin, alpha pseudogene 5																		AAAGGCCAAAGATAAAAGGTT	0.303													ENSG00000214182																																					0																																												0			-	S38627		13q13.1	2008-11-06	2008-04-03		ENSG00000214182	ENSG00000214182			9628	pseudogene	pseudogene	"""gene sequence 150"""		"""prothymosin, alpha pseudogene 5 (gene sequence 150)"""			1612591	Standard	NG_004798		Approved				OTTHUMG00000017147		13.37:g.82265085G>A				R	SNP	-	NULL	ENST00000607242.1	37	NULL		13																																																																																			-	PTMAP5	-	-		0.303	PTMAP5-002	KNOWN	basic	processed_transcript	PTMAP5	HGNC	pseudogene	OTTHUMT00000470311.1	0	0	0	243	243	0	0.00	0.00	G			82265085	+1	40	0	103	0	tier1	no_errors	ENST00000607242	ensembl	human	known	74_37	rna	27.97	0.00	SNP	1.000	A	40	103
PXDN	7837	genome.wustl.edu	37	2	1652740	1652740	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:1652740G>T	ENST00000252804.4	-	17	2862	c.2812C>A	c.(2812-2814)Cag>Aag	p.Q938K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	938					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACGATGCCCTGCCGCAGCAGG	0.697													ENSG00000130508																																					0													12.0	14.0	13.0					2																	1652740		1785	3799	5584	SO:0001583	missense	0			-	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2812C>A	2.37:g.1652740G>T	ENSP00000252804:p.Gln938Lys		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Q938K	ENST00000252804.4	37	c.2812	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553355	0.45487	.	.	ENSG00000130508	ENST00000252804	T	0.72615	-0.67	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	L	0.37750	1.13	0.58432	D	0.999997	B	0.21381	0.055	B	0.21360	0.034	T	0.58375	-0.7647	10	0.07644	T	0.81	-42.1476	19.8119	0.96549	0.0:0.0:1.0:0.0	.	938	Q92626	PXDN_HUMAN	K	938	ENSP00000252804:Q938K	ENSP00000252804:Q938K	Q	-	1	0	PXDN	1631747	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	9.757000	0.98924	2.683000	0.91414	0.558000	0.71614	CAG	-	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.697	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	0	0	0	13	13	0	0.00	0.00	G	XM_056455		1652740	-1	4	1	11	0	tier1	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	26.67	100.00	SNP	1.000	T	4	11
RANBP2	5903	genome.wustl.edu	37	2	109383182	109383182	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:109383182C>T	ENST00000283195.6	+	20	6313	c.6187C>T	c.(6187-6189)Ctc>Ttc	p.L2063F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2063	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTAAAAATTCTCAAAAACGA	0.383													ENSG00000153201																																					0													150.0	177.0	168.0					2																	109383182		2202	4292	6494	SO:0001583	missense	0			-	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6187C>T	2.37:g.109383182C>T	ENSP00000283195:p.Leu2063Phe		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.L2063F	ENST00000283195.6	37	c.6187	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525030	0.64747	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.55760	0.5	5.65	4.76	0.60689	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.77948	0.4207	M	0.92169	3.28	0.43462	D	0.995664	D	0.89917	1.0	D	0.97110	1.0	T	0.83088	-0.0134	9	0.87932	D	0	-10.0657	13.9985	0.64419	0.0:0.9276:0.0:0.0724	.	2063	P49792	RBP2_HUMAN	F	1087;2063	ENSP00000283195:L2063F	ENSP00000283195:L2063F	L	+	1	0	RANBP2	108749614	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.949000	0.63596	2.653000	0.90120	0.557000	0.71058	CTC	-	RANBP2	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	0	0	0	345	345	1	0.00	0.00	C	NM_006267		109383182	+1	119	0	184	1	tier1	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	39.14	0.00	SNP	1.000	T	119	184
RGPD3	653489	genome.wustl.edu	37	2	107041069	107041069	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:107041069C>T	ENST00000409886.3	-	20	3441	c.3354G>A	c.(3352-3354)atG>atA	p.M1118I	RGPD3_ENST00000304514.7_Missense_Mutation_p.M1118I	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1118	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCTTCAGGTTCATTGTAGTCG	0.408													ENSG00000153165																																					0													2.0	3.0	2.0					2																	107041069		562	1298	1860	SO:0001583	missense	0			-		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3354G>A	2.37:g.107041069C>T	ENSP00000386588:p.Met1118Ile		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.M1118I	ENST00000409886.3	37	c.3354	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	10.57	1.388360	0.25118	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.48201	0.82;0.82	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.60573	0.2279	L	0.59967	1.855	0.34663	D	0.722928	D	0.55385	0.971	D	0.79784	0.993	T	0.67457	-0.5666	9	0.39692	T	0.17	-24.2164	10.4115	0.44296	0.0:1.0:0.0:0.0	.	1118	A6NKT7	RGPD3_HUMAN	I	1118;876;1118	ENSP00000386588:M1118I;ENSP00000303659:M1118I	ENSP00000303659:M1118I	M	-	3	0	RGPD3	106407501	1.000000	0.71417	0.947000	0.38551	0.098000	0.18820	7.578000	0.82498	1.314000	0.45095	0.186000	0.17326	ATG	-	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.408	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	0	0	0	241	241	0	0.00	0.00	C	XM_929931		107041069	-1	109	0	133	0	tier1	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	45.04	0.00	SNP	1.000	T	109	133
RANBP2	5903	genome.wustl.edu	37	2	109384259	109384259	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:109384259C>T	ENST00000283195.6	+	20	7390	c.7264C>T	c.(7264-7266)Cgt>Tgt	p.R2422C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2422	RanBD1 3. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAGCTGTTCGTTTTAAACT	0.368													ENSG00000153201																																					0													84.0	98.0	93.0					2																	109384259		1582	3088	4670	SO:0001583	missense	0			-	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7264C>T	2.37:g.109384259C>T	ENSP00000283195:p.Arg2422Cys		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.R2422C	ENST00000283195.6	37	c.7264	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883114	0.51908	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.55052	0.54	5.47	5.47	0.80525	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.69672	0.3137	M	0.92604	3.325	0.43007	D	0.994536	D	0.60575	0.988	P	0.45913	0.497	T	0.80251	-0.1460	9	0.87932	D	0	-21.2704	19.698	0.96034	0.0:1.0:0.0:0.0	.	2422	P49792	RBP2_HUMAN	C	1446;2422	ENSP00000283195:R2422C	ENSP00000283195:R2422C	R	+	1	0	RANBP2	108750691	0.998000	0.40836	0.939000	0.37840	0.887000	0.51463	3.901000	0.56303	2.736000	0.93811	0.305000	0.20034	CGT	-	RANBP2	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	0	0	0	462	462	0	0.00	0.00	C	NM_006267		109384259	+1	44	0	316	0	tier1	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	12.19	0.00	SNP	0.977	T	44	316
SSX1	6756	genome.wustl.edu	37	X	48117237	48117237	+	Silent	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chrX:48117237C>T	ENST00000376919.3	+	3	262	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	42	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGATGAAATACTCGGAGAAAA	0.348			T	SS18	synovial sarcoma								ENSG00000126752																									Esophageal Squamous(175;994 1982 2214 6527 18857)			Dom	yes		X	Xp11.23-p11.22	6756	"""synovial sarcoma, X breakpoint 1"""		M	0													79.0	61.0	67.0					X																	48117237		2199	4299	6498	SO:0001819	synonymous_variant	0			-	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.126C>T	X.37:g.48117237C>T			A3KN76|Q08AJ2|Q5JQ64	Silent	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Y42	ENST00000376919.3	37	c.126	CCDS14290.1	X																																																																																			-	SSX1	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.348	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX1	HGNC	protein_coding	OTTHUMT00000056485.1	0	0	0	164	164	0	0.00	0.00	C	NM_005635		48117237	+1	122	0	37	0	tier1	no_errors	ENST00000376919	ensembl	human	known	74_37	silent	76.73	0.00	SNP	0.000	T	122	37
TBC1D3P1-DHX40P1	653645	genome.wustl.edu	37	17	58085813	58085813	+	lincRNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:58085813G>A	ENST00000407042.3	-	0	1623									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		AGCCTGGAGGGAACTGAGAAC	0.547													ENSG00000267104																																					0																																												0			-			17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58085813G>A				R	SNP	-	NULL	ENST00000407042.3	37	NULL		17																																																																																			-	TBC1D3P1-DHX40P1	-	-		0.547	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	TBC1D3P1-DHX40P1	HGNC	lincRNA		0	0	0	167	167	0	0.00	0.00	G	NR_002924		58085813	-1	69	0	43	0	tier1	no_errors	ENST00000407042	ensembl	human	known	74_37	rna	61.61	0.00	SNP	0.172	A	69	43
TMCC2	9911	genome.wustl.edu	37	1	205211030	205211030	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:205211030C>T	ENST00000358024.3	+	2	994	c.605C>T	c.(604-606)cCc>cTc	p.P202L	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.P124L	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	202						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCAAGGCCCCCCAGGACAGC	0.711													ENSG00000133069																																					0													13.0	13.0	13.0					1																	205211030		2167	4255	6422	SO:0001583	missense	0			-	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.605C>T	1.37:g.205211030C>T	ENSP00000350718:p.Pro202Leu		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SRE	p.P202L	ENST00000358024.3	37	c.605	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981485	0.74474	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.32023	1.47;1.51	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000017	T	0.26702	0.0653	L	0.36672	1.1	0.58432	D	0.999997	B	0.33694	0.421	B	0.26864	0.074	T	0.11203	-1.0597	10	0.87932	D	0	.	18.0202	0.89253	0.0:1.0:0.0:0.0	.	202	O75069	TMCC2_HUMAN	L	202;124	ENSP00000350718:P202L;ENSP00000437943:P124L	ENSP00000350718:P202L	P	+	2	0	TMCC2	203477653	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.497000	0.73674	2.330000	0.79161	0.462000	0.41574	CCC	-	TMCC2	-	NULL		0.711	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	0	0	0	14	14	3	0.00	0.00	C	NM_014858		205211030	+1	5	1	7	1	tier1	no_errors	ENST00000358024	ensembl	human	known	74_37	missense	41.67	50.00	SNP	1.000	T	5	7
ZNF676	163223	genome.wustl.edu	37	19	22362861	22362861	+	Missense_Mutation	SNP	C	C	T	rs201300029	byFrequency	TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:22362861C>T	ENST00000397121.2	-	3	1975	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R553I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTGTGTCT	0.378													ENSG00000196109																																					1	Substitution - Missense(1)	large_intestine(1)											64.0	67.0	66.0					19																	22362861		2121	4254	6375	SO:0001583	missense	0			-	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1658G>A	19.37:g.22362861C>T	ENSP00000380310:p.Arg553Lys		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R553K	ENST00000397121.2	37	c.1658	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	1.547	-0.540247	0.04053	.	.	ENSG00000196109	ENST00000397121	T	0.18338	2.22	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	N	0.04387	-0.21	0.21675	N	0.999592	B	0.30664	0.289	B	0.28991	0.097	T	0.28933	-1.0028	9	0.30078	T	0.28	.	7.768	0.28991	0.3982:0.6018:0.0:0.0	.	553	Q8N7Q3	ZN676_HUMAN	K	553	ENSP00000380310:R553K	ENSP00000380310:R553K	R	-	2	0	ZNF676	22154701	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.989000	0.03736	-2.950000	0.00293	-2.994000	0.00078	AGA	-	ZNF676	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	0	0	0	33	33	3	0.00	0.00	C	NM_001001411		22362861	-1	18	1	9	0	tier1	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	66.67	100.00	SNP	0.885	T	18	9
ANKRD30B	374860	genome.wustl.edu	37	18	14851814	14851814	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr18:14851814G>A	ENST00000358984.4	+	36	3694	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1172										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAATACTGGAGACAGAAAT	0.398													ENSG00000180777																																					0													10.0	9.0	9.0					18																	14851814		686	1565	2251	SO:0001583	missense	0			-	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3514G>A	18.37:g.14851814G>A	ENSP00000351875:p.Glu1172Lys		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1172K	ENST00000358984.4	37	c.3514	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651698	0.14516	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.29917	1.55	1.39	1.39	0.22231	.	.	.	.	.	T	0.40909	0.1136	L	0.48642	1.525	0.80722	D	1	D;D	0.60575	0.98;0.988	P;P	0.62885	0.855;0.908	T	0.35126	-0.9801	9	0.87932	D	0	.	8.7313	0.34501	0.0:0.0:1.0:0.0	.	1257;1172	Q9BXX2;F8WAG3	AN30B_HUMAN;.	K	1172;566;592	ENSP00000351875:E1172K	ENSP00000277669:E592K	E	+	1	0	ANKRD30B	14841814	1.000000	0.71417	0.922000	0.36590	0.314000	0.28054	3.141000	0.50593	1.076000	0.40961	0.173000	0.16961	GAG	-	ANKRD30B	-	NULL		0.398	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	0	0	0	50	50	2	0.00	0.00	G	NM_001145029		14851814	+1	23	2	18	2	tier1	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	56.10	50.00	SNP	1.000	A	23	18
DKKL1	27120	genome.wustl.edu	37	19	49878104	49878104	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:49878104C>T	ENST00000221498.2	+	5	953	c.548C>T	c.(547-549)gCc>gTc	p.A183V	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Missense_Mutation_p.A41V	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	183					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCAGGATGCCCTGGAGGGC	0.647													ENSG00000104901																																					0													25.0	28.0	27.0					19																	49878104		2203	4300	6503	SO:0001583	missense	0			-	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.548C>T	19.37:g.49878104C>T	ENSP00000221498:p.Ala183Val			Missense_Mutation	SNP	NULL	p.A183V	ENST00000221498.2	37	c.548	CCDS12762.1	19	.	.	.	.	.	.	.	.	.	.	C	0.049	-1.255658	0.01457	.	.	ENSG00000104901	ENST00000221498	T	0.11604	2.76	4.0	-2.2	0.06994	.	1.595510	0.03691	N	0.247106	T	0.03095	0.0091	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	10	0.02654	T	1	-1.3236	4.222	0.10563	0.0:0.3607:0.1766:0.4628	.	183	Q9UK85	DKKL1_HUMAN	V	183	ENSP00000221498:A183V	ENSP00000221498:A183V	A	+	2	0	DKKL1	54569916	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.344000	0.07780	-0.273000	0.09246	-0.812000	0.03155	GCC	-	DKKL1	-	NULL		0.647	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKKL1	HGNC	protein_coding	OTTHUMT00000465454.2	0	0	0	79	79	1	0.00	0.00	C	NM_014419		49878104	+1	37	2	50	1	tier1	no_errors	ENST00000221498	ensembl	human	known	74_37	missense	42.53	66.67	SNP	0.000	T	37	50
RP11-782C8.2	0	genome.wustl.edu	37	1	143209771	143209771	+	lincRNA	SNP	T	T	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:143209771T>A	ENST00000412204.2	-	0	1299				RP11-782C8.1_ENST00000438000.1_lincRNA																							TTTGGAGAGTTTCTAAAGCCA	0.333													ENSG00000232274																																					0																																												0			-																													1.37:g.143209771T>A				R	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			-	RP11-782C8.2	-	-		0.333	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	0	0	0	112	112	0	0.00	0.00	T			143209771	-1	25	2	65	0	tier1	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	27.78	100.00	SNP	0.087	A	25	65
HELZ2	85441	genome.wustl.edu	37	20	62195066	62195066	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr20:62195066G>A	ENST00000467148.1	-	8	5178	c.5109C>T	c.(5107-5109)atC>atT	p.I1703I	HELZ2_ENST00000427522.2_Silent_p.I1134I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1703					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGAGCCCATCGATGTCCCTGG	0.692													ENSG00000130589																																					0													12.0	14.0	13.0					20																	62195066		2176	4283	6459	SO:0001819	synonymous_variant	0			-	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5109C>T	20.37:g.62195066G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.I1703	ENST00000467148.1	37	c.5109	CCDS33508.1	20																																																																																			-	HELZ2	-	NULL		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	0	0	0	67	67	4	0.00	0.00	G	NM_001037335		62195066	-1	21	3	55	8	tier1	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	27.63	27.27	SNP	0.072	A	21	55
TMC6	11322	genome.wustl.edu	37	17	76113631	76113631	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr17:76113631G>A	ENST00000590602.1	-	17	2275	c.2116C>T	c.(2116-2118)Ccc>Tcc	p.P706S	TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.P285S|TMC6_ENST00000591436.1_Missense_Mutation_p.P285S|TMC6_ENST00000392467.3_Missense_Mutation_p.P706S|TMC6_ENST00000322914.3_Missense_Mutation_p.P706S|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	706					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGACCCTGGGGCCTGCCGCC	0.677													ENSG00000141524																																					0													13.0	14.0	14.0					17																	76113631		2189	4282	6471	SO:0001583	missense	0			-	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2116C>T	17.37:g.76113631G>A	ENSP00000465261:p.Pro706Ser		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.P706S	ENST00000590602.1	37	c.2116	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254513	0.22965	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.71698	-0.26;-0.26;-0.59	3.69	2.71	0.32032	.	0.203712	0.42548	N	0.000687	T	0.57814	0.2079	L	0.38953	1.18	0.40326	D	0.97887	B;B	0.25809	0.002;0.135	B;B	0.24848	0.007;0.056	T	0.53041	-0.8494	10	0.31617	T	0.26	-10.9604	10.8055	0.46516	0.0945:0.0:0.9055:0.0	.	706;285	Q7Z403;Q7Z403-3	TMC6_HUMAN;.	S	706;706;285	ENSP00000313408:P706S;ENSP00000376260:P706S;ENSP00000313479:P285S	ENSP00000313408:P706S	P	-	1	0	TMC6	73625226	1.000000	0.71417	0.226000	0.23910	0.159000	0.22180	5.839000	0.69395	0.752000	0.32923	0.555000	0.69702	CCC	-	TMC6	-	NULL		0.677	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	0	0	0	69	69	2	0.00	0.00	G			76113631	-1	37	2	18	1	tier1	no_errors	ENST00000322914	ensembl	human	known	74_37	missense	67.27	66.67	SNP	0.962	A	37	18
RP11-466L17.1	0	genome.wustl.edu	37	1	56197358	56197358	+	lincRNA	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:56197358G>A	ENST00000422374.1	+	0	746																											cagaggatgggaaataaatcc	0.418													ENSG00000234810																																					0													35.0	39.0	38.0					1																	56197358		692	1591	2283			0			-																													1.37:g.56197358G>A				R	SNP	-	NULL	ENST00000422374.1	37	NULL		1																																																																																			-	RP11-466L17.1	-	-		0.418	RP11-466L17.1-001	KNOWN	basic	lincRNA	ENSG00000234810	Clone_based_vega_gene	lincRNA	OTTHUMT00000022603.1	0	0	0	46	46	23	0.00	0.00	G			56197358	+1	10	2	47	22	tier1	no_errors	ENST00000422374	ensembl	human	known	74_37	rna	17.54	8.33	SNP	0.057	A	10	47
ZNF302	55900	genome.wustl.edu	37	19	35170820	35170820	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr19:35170820G>T	ENST00000446502.2	+	3	305	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	ZNF302_ENST00000505242.1_Intron|ZNF302_ENST00000507959.1_Intron|ZNF302_ENST00000423823.2_Intron|ZNF302_ENST00000505365.2_Intron|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000457781.2_Intron			Q9NR11	ZN302_HUMAN	zinc finger protein 302	0	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACTGGTGGGGCAGAATCA	0.423													ENSG00000089335																																					0																																										SO:0001583	missense	0			-	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.97G>T	19.37:g.35170820G>T	ENSP00000396379:p.Gly33Trp		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G33W	ENST00000446502.2	37	c.97		19	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584447	0.46110	.	.	ENSG00000089335	ENST00000446502	T	0.04809	3.55	0.714	0.714	0.18180	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.21527	N	0.999652	D	0.89917	1.0	D	0.72982	0.979	T	0.05733	-1.0867	7	0.66056	D	0.02	.	.	.	.	.	33	E7EVR1	.	W	33	ENSP00000396379:G33W	ENSP00000396379:G33W	G	+	1	0	ZNF302	39862660	0.001000	0.12720	0.737000	0.30932	0.636000	0.38137	-0.051000	0.11885	0.666000	0.31087	0.411000	0.27672	GGG	-	ZNF302	-	NULL		0.423	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	0	0	0	135	135	35	0.00	0.00	G			35170820	+1	20	2	127	35	tier1	no_errors	ENST00000446502	ensembl	human	novel	74_37	missense	13.61	5.41	SNP	0.779	T	20	127
KANSL3	55683	genome.wustl.edu	37	2	97267957	97267957	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr2:97267957G>A	ENST00000431828.1	-	19	2454	c.2378C>T	c.(2377-2379)cCt>cTt	p.P793L	KANSL3_ENST00000599854.1_Missense_Mutation_p.P706L|KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.P613L			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	819					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTTCCCACCAGGAGTGGCACC	0.627													ENSG00000114982																																					0													35.0	37.0	37.0					2																	97267957		2043	4195	6238	SO:0001583	missense	0			-	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.2378C>T	2.37:g.97267957G>A	ENSP00000396749:p.Pro793Leu		A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	NULL	p.P793L	ENST00000431828.1	37	c.2378	CCDS46361.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555538	0.86231	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.48201	0.82;0.82	5.66	5.66	0.87406	.	0.170650	0.40469	N	0.001085	T	0.47060	0.1425	N	0.14661	0.345	0.80722	D	1	P;D;B;B;P	0.64830	0.839;0.994;0.447;0.386;0.835	B;P;B;B;P	0.54544	0.264;0.755;0.168;0.058;0.451	T	0.53041	-0.8494	10	0.72032	D	0.01	.	17.2439	0.87021	0.0:0.0:1.0:0.0	.	587;819;793;704;679	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	L	706;679;793;613;587	ENSP00000396749:P793L;ENSP00000406207:P613L	ENSP00000346144:P706L	P	-	2	0	KIAA1310	96631684	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	4.320000	0.59203	2.658000	0.90341	0.655000	0.94253	CCT	-	KANSL3	-	NULL		0.627	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	0	0	0	74	74	79	0.00	0.00	G	NM_017991		97267957	-1	5	3	51	36	tier1	no_errors	ENST00000431828	ensembl	human	known	74_37	missense	8.93	7.69	SNP	1.000	A	5	51
MYOM3	127294	genome.wustl.edu	37	1	24409022	24409022	+	Intron	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr1:24409022G>A	ENST00000374434.3	-	17	2255				RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Intron|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Intron|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3							M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTGATCTATGAGCCCCAGCT	0.642													ENSG00000142661																																					0																																										SO:0001627	intron_variant	0			-	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2092+60C>T	1.37:g.24409022G>A			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	R	SNP	-	NULL	ENST00000374434.3	37	NULL	CCDS41281.1	1																																																																																			-	MYOM3	-	-		0.642	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	0	0	0	91	91	39	0.00	0.00	G	NM_152372		24409022	-1	21	2	91	38	tier1	no_errors	ENST00000475306	ensembl	human	known	74_37	rna	18.75	4.76	SNP	0.000	A	21	91
SORL1	6653	genome.wustl.edu	37	11	121393685	121393685	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr11:121393685C>T	ENST00000260197.7	+	11	1712	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	528			A -> T (in dbSNP:rs2298813). {ECO:0000269|PubMed:18407551}.		cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGTGCTGGAGCCAGGTGGCGA	0.483													ENSG00000137642																																					0													73.0	76.0	75.0					11																	121393685		2203	4299	6502	SO:0001583	missense	0			-	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1583C>T	11.37:g.121393685C>T	ENSP00000260197:p.Ala528Val		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A528V	ENST00000260197.7	37	c.1583	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	7.388	0.630212	0.14257	.	.	ENSG00000137642	ENST00000260197	T	0.42900	0.96	5.56	5.56	0.83823	VPS10 (1);	0.114955	0.64402	D	0.000017	T	0.15219	0.0367	N	0.02539	-0.55	0.80722	D	1	B	0.22683	0.073	B	0.18871	0.023	T	0.22173	-1.0224	10	0.02654	T	1	.	9.781	0.40649	0.0:0.8463:0.0:0.1537	.	528	Q92673	SORL_HUMAN	V	528	ENSP00000260197:A528V	ENSP00000260197:A528V	A	+	2	0	SORL1	120898895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.473000	0.53122	2.621000	0.88768	0.591000	0.81541	GCC	-	SORL1	-	smart_VPS10		0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	0	0	0	66	66	84	0.00	0.00	C	NM_003105		121393685	+1	5	3	38	56	tier1	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	11.63	5.08	SNP	1.000	T	5	38
KCNK10	54207	genome.wustl.edu	37	14	88729796	88729796	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr14:88729796G>A	ENST00000340700.5	-	2	588	c.137C>T	c.(136-138)tCc>tTc	p.S46F	KCNK10_ENST00000319231.5_Missense_Mutation_p.S51F|KCNK10_ENST00000312350.5_Missense_Mutation_p.S51F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	46					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S46F(1)|p.S51F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCTCGGGAGGAAATGGACAG	0.642													ENSG00000100433																																					2	Substitution - Missense(2)	skin(2)											76.0	78.0	78.0					14																	88729796		2203	4300	6503	SO:0001583	missense	0			-	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.137C>T	14.37:g.88729796G>A	ENSP00000343104:p.Ser46Phe		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.S51F	ENST00000340700.5	37	c.152	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882102	0.91740	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.93859	-3.28;-3.3;-3.3;0.47	5.87	5.87	0.94306	.	0.411046	0.29260	N	0.012673	D	0.95417	0.8512	L	0.57536	1.79	0.58432	D	0.99999	D;D;D	0.63046	0.992;0.959;0.992	P;P;P	0.62649	0.905;0.866;0.905	D	0.95266	0.8373	10	0.87932	D	0	.	15.9984	0.80268	0.0:0.1337:0.8663:0.0	.	46;51;51	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	F	46;51;51;34	ENSP00000343104:S46F;ENSP00000310568:S51F;ENSP00000312811:S51F;ENSP00000452587:S34F	ENSP00000310568:S51F	S	-	2	0	KCNK10	87799549	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.587000	0.74071	2.941000	0.99782	0.655000	0.94253	TCC	-	KCNK10	-	NULL		0.642	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	0	0	0	100	100	54	0.00	0.00	G	NM_021161		88729796	-1	22	2	79	41	tier1	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	21.78	4.65	SNP	1.000	A	22	79
TMEM44	93109	genome.wustl.edu	37	3	194337953	194337953	+	Silent	SNP	G	G	A			TCGA-DX-AB2E-01A-11D-A38Z-09	TCGA-DX-AB2E-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2781fa26-8abc-4e5e-8494-c73da3bea55a	9257928c-7fb5-4064-8523-ba81be9b6c5b	g.chr3:194337953G>A	ENST00000392432.2	-	7	1004	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	TMEM44_ENST00000473092.1_Silent_p.L220L|TMEM44_ENST00000381975.3_Silent_p.L220L|TMEM44_ENST00000347147.4_Silent_p.L220L|TMEM44_ENST00000273580.7_Silent_p.L220L	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	267						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		AGGGCCGACAGGAGCCGGGTC	0.662													ENSG00000145014																																					0													17.0	16.0	17.0					3																	194337953		2127	4158	6285	SO:0001819	synonymous_variant	0			-	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.799C>T	3.37:g.194337953G>A			A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	NULL	p.L267	ENST00000392432.2	37	c.799	CCDS54699.1	3																																																																																			-	TMEM44	-	NULL		0.662	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	0	0	0	127	127	19	0.00	0.00	G	NM_138399		194337953	-1	41	2	74	23	tier1	no_errors	ENST00000392432	ensembl	human	known	74_37	silent	35.65	8.00	SNP	0.022	A	41	74
