#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	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_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ANO8	57719	genome.wustl.edu	37	19	17441667	17441667	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr19:17441667T>A	ENST00000159087.4	-	8	1121	c.963A>T	c.(961-963)gaA>gaT	p.E321D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	321					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCTCCACGGCTTCCCCAGGTG	0.612																																																	0													109.0	109.0	109.0					19																	17441667		2203	4300	6503	SO:0001583	missense	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.963A>T	19.37:g.17441667T>A	ENSP00000159087:p.Glu321Asp		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.E321D	ENST00000159087.4	37	c.963	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	t	14.24	2.475523	0.43942	.	.	ENSG00000074855	ENST00000159087	T	0.67698	-0.28	4.59	-2.51	0.06365	.	0.124811	0.52532	D	0.000073	T	0.62780	0.2456	L	0.53671	1.685	0.27389	N	0.955207	B	0.24317	0.101	B	0.40329	0.326	T	0.59247	-0.7490	10	0.25106	T	0.35	.	11.09	0.48110	0.0:0.5665:0.0:0.4335	.	321	Q9HCE9	ANO8_HUMAN	D	321	ENSP00000159087:E321D	ENSP00000159087:E321D	E	-	3	2	ANO8	17302667	0.875000	0.30112	0.928000	0.36995	0.778000	0.44026	-0.038000	0.12144	-0.336000	0.08438	0.255000	0.18592	GAA	ANO8	-	pfam_Anoctamin	ENSG00000074855		0.612	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1		0.00	20	0	T	XM_050644		17441667	-1			no_errors	ENST00000159087	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.884	A
BAIAP2	10458	genome.wustl.edu	37	17	79080600	79080600	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:79080600G>T	ENST00000321300.6	+	12	1486	c.1393G>T	c.(1393-1395)Gcc>Tcc	p.A465S	BAIAP2_ENST00000428708.2_Missense_Mutation_p.A465S|BAIAP2_ENST00000575712.1_Missense_Mutation_p.A465S|BAIAP2_ENST00000321280.7_Missense_Mutation_p.A465S|BAIAP2_ENST00000416299.2_Missense_Mutation_p.A328S|BAIAP2_ENST00000575245.1_Missense_Mutation_p.A498S|BAIAP2_ENST00000435091.3_Missense_Mutation_p.A465S|BAIAP2_ENST00000392411.3_Missense_Mutation_p.A387S	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	465					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGACGACCTGGCCATCCCACC	0.701																																																	0													62.0	59.0	60.0					17																	79080600		2201	4299	6500	SO:0001583	missense	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1393G>T	17.37:g.79080600G>T	ENSP00000316338:p.Ala465Ser		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A465S	ENST00000321300.6	37	c.1393	CCDS11775.1	17	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300986	0.23650	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.31247	1.88;1.9;1.5;1.5;1.9;1.5	4.78	4.78	0.61160	.	0.337248	0.31113	N	0.008238	T	0.17023	0.0409	N	0.14661	0.345	0.33928	D	0.641733	B;B;B;B;B;B;B;B;B	0.21688	0.032;0.015;0.059;0.003;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B	0.18263	0.018;0.014;0.021;0.006;0.014;0.007;0.008;0.014;0.014	T	0.19976	-1.0289	10	0.15066	T	0.55	-29.3595	11.856	0.52437	0.0:0.0:0.8249:0.1751	.	328;387;466;465;465;465;465;466;465	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	S	465;465;465;465;387;328	ENSP00000316338:A465S;ENSP00000401022:A465S;ENSP00000413069:A465S;ENSP00000315685:A465S;ENSP00000376211:A387S;ENSP00000391837:A328S	ENSP00000315685:A465S	A	+	1	0	BAIAP2	76695195	1.000000	0.71417	0.996000	0.52242	0.130000	0.20726	1.865000	0.39479	2.232000	0.73038	0.298000	0.19748	GCC	BAIAP2	-	NULL	ENSG00000175866		0.701	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	-	0.00	35	0	G			79080600	+1	tier1	-	no_errors	ENST00000321300	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
BDH1	622	genome.wustl.edu	37	3	197241153	197241153	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:197241153G>T	ENST00000392378.2	-	6	854	c.544C>A	c.(544-546)Ctc>Atc	p.L182I	BDH1_ENST00000358186.2_Missense_Mutation_p.L182I|BDH1_ENST00000392379.1_Missense_Mutation_p.L182I|BDH1_ENST00000441275.1_Missense_Mutation_p.L95I	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	182					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CTTCGGATGAGGGGGAGAAAG	0.567																																																	0													120.0	92.0	101.0					3																	197241153		2203	4300	6503	SO:0001583	missense	0			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.544C>A	3.37:g.197241153G>T	ENSP00000376183:p.Leu182Ile		D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L182I	ENST00000392378.2	37	c.544	CCDS3328.1	3	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117390	0.56505	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819	D;D;D;D;D;T;T	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;0.4;0.4	5.02	4.15	0.48705	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	M	0.65498	2.005	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95474	0.8554	10	0.72032	D	0.01	.	11.6534	0.51304	0.0878:0.0:0.9122:0.0	.	182	Q02338	BDH_HUMAN	I	182;182;182;95;95;163;182	ENSP00000376183:L182I;ENSP00000350914:L182I;ENSP00000376184:L182I;ENSP00000411014:L95I;ENSP00000387648:L95I;ENSP00000408685:L163I;ENSP00000409849:L182I	ENSP00000350914:L182I	L	-	1	0	BDH1	198725550	1.000000	0.71417	0.934000	0.37439	0.561000	0.35649	4.409000	0.59768	1.258000	0.44101	0.555000	0.69702	CTC	BDH1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	ENSG00000161267		0.567	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH1	HGNC	protein_coding	OTTHUMT00000340267.1	-	0.00	39	0	G	NM_004051		197241153	-1	tier1	-	no_errors	ENST00000358186	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.955	T
BDH2	56898	genome.wustl.edu	37	4	104013836	104013836	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:104013836G>T	ENST00000296424.4	-	4	289	c.169C>A	c.(169-171)Ctt>Att	p.L57I		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	57					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.L57F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GTGACATCAAGGACACGAGTT	0.338																																																	1	Substitution - Missense(1)	urinary_tract(1)											76.0	77.0	76.0					4																	104013836		2203	4300	6503	SO:0001583	missense	0			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.169C>A	4.37:g.104013836G>T	ENSP00000296424:p.Leu57Ile		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.L57I	ENST00000296424.4	37	c.169	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	3.734	-0.054928	0.07362	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;D;D	0.87729	1.84;-2.29;-2.29	4.83	3.1	0.35709	NAD(P)-binding domain (1);	0.128387	0.48286	D	0.000183	D	0.86744	0.6006	L	0.39147	1.195	0.35498	D	0.79958	P	0.44734	0.842	P	0.56088	0.791	D	0.87575	0.2480	10	0.72032	D	0.01	.	7.1024	0.25344	0.3504:0.0:0.6496:0.0	.	57	Q9BUT1	BDH2_HUMAN	I	57	ENSP00000296424:L57I;ENSP00000427442:L57I;ENSP00000422891:L57I	ENSP00000296424:L57I	L	-	1	0	BDH2	104233285	0.999000	0.42202	0.183000	0.23137	0.366000	0.29705	2.221000	0.42917	0.575000	0.29434	-0.258000	0.10820	CTT	BDH2	-	pfam_DH_sc/Rdtase_SDR	ENSG00000164039		0.338	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2		0.00	28	0	G	NM_020139		104013836	-1			no_errors	ENST00000296424	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.948	T
BLOC1S5	63915	genome.wustl.edu	37	6	8015416	8015416	+	3'UTR	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr6:8015416G>T	ENST00000397457.2	-	0	1067				BLOC1S5-TXNDC5_ENST00000439343.2_Intron|BLOC1S5_ENST00000475998.1_5'UTR|BLOC1S5_ENST00000543936.1_3'UTR|TXNDC5_ENST00000539054.1_Intron	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuron projection development (GO:0031175)|otolith morphogenesis (GO:0032474)|positive regulation of pigment cell differentiation (GO:0050942)	BLOC-1 complex (GO:0031083)|transport vesicle (GO:0030133)											TTTTTTTTTTGTCTACATTAC	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF426434	CCDS4506.1, CCDS75394.1	6p25.1-p24.3	2012-08-01	2012-08-01	2012-08-01		ENSG00000188428		"""Biogenesis of lysosomal organelles complex-1 subunits"""	18561	protein-coding gene	gene with protein product		607289	"""muted homolog (mouse)"""	MUTED		11912185	Standard	NM_001199322		Approved	MU, dJ303A1.3		Q8TDH9	OTTHUMG00000014220	ENST00000397457.2:c.*466C>A	6.37:g.8015416G>T			B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	RNA	SNP	-	NULL	ENST00000397457.2	37	NULL	CCDS4506.1	6																																																																																			BLOC1S5	-	-	ENSG00000188428		0.433	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLOC1S5	HGNC	protein_coding	OTTHUMT00000039797.2		0.00	16	0	G	NM_201280		8015416	-1			no_errors	ENST00000475998	ensembl	human	known	74_37	rna	21.05	15	4	SNP	0.002	T
HEATR9	256957	genome.wustl.edu	37	17	34182096	34182096	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:34182096G>T	ENST00000311880.2	-	15	1832	c.1684C>A	c.(1684-1686)Ctc>Atc	p.L562I	C17orf66_ENST00000592980.1_Missense_Mutation_p.L522I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		562					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGGACCCGGAGCTGTTTCTTG	0.522																																																	0													110.0	101.0	104.0					17																	34182096		2203	4300	6503	SO:0001583	missense	0																														ENST00000311880.2:c.1684C>A	17.37:g.34182096G>T	ENSP00000309560:p.Leu562Ile		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L562I	ENST00000311880.2	37	c.1684	CCDS11299.1	17	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374488	0.42105	.	.	ENSG00000172653	ENST00000311880	T	0.60548	0.18	3.59	-0.783	0.10958	.	1.398810	0.04939	N	0.458257	T	0.44912	0.1316	L	0.32530	0.975	0.09310	N	1	P;P	0.42518	0.782;0.675	B;B	0.40375	0.327;0.175	T	0.40887	-0.9539	10	0.87932	D	0	.	3.5892	0.07982	0.3397:0.1921:0.4682:0.0	.	522;562	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	I	562	ENSP00000309560:L562I	ENSP00000309560:L562I	L	-	1	0	C17orf66	31206209	0.863000	0.29885	0.000000	0.03702	0.002000	0.02628	0.949000	0.29109	-0.084000	0.12595	-0.218000	0.12543	CTC	C17orf66	-	NULL	ENSG00000172653		0.522	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1	-	0.00	82	0	G			34182096	-1	tier1	-	no_errors	ENST00000311880	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	T
FAM167A	83648	genome.wustl.edu	37	8	11296001	11296001	+	Intron	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr8:11296001G>T	ENST00000528897.1	-	2	1001				FAM167A_ENST00000284486.4_Intron|C8orf12_ENST00000284481.3_Missense_Mutation_p.G89W|FAM167A_ENST00000534308.1_Intron|FAM167A_ENST00000531564.1_Intron|C8orf12_ENST00000533578.1_Missense_Mutation_p.G89W			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						ACATTGGCAAGGGAGAGAAGA	0.373																																																	0																																										SO:0001627	intron_variant	0				CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.381+5538C>A	8.37:g.11296001G>T			A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	NULL	p.G89W	ENST00000528897.1	37	c.265	CCDS5981.1	8	.	.	.	.	.	.	.	.	.	.	G	6.573	0.474132	0.12521	.	.	ENSG00000184608	ENST00000284481;ENST00000533578	.	.	.	2.58	1.68	0.24146	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36939	-0.9727	5	0.87932	D	0	.	7.3374	0.26617	0.0:0.2733:0.7267:0.0	.	.	.	.	W	89	.	ENSP00000284481:G89W	G	+	1	0	C8orf12	11333411	0.025000	0.19082	0.004000	0.12327	0.006000	0.05464	1.211000	0.32382	0.636000	0.30508	0.655000	0.94253	GGG	C8orf12	-	NULL	ENSG00000184608		0.373	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	C8orf12	HGNC	protein_coding	OTTHUMT00000383901.1	-	0.00	59	0	G			11296001	+1	tier1	-	no_errors	ENST00000284481	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.005	T
CACNA1C	775	genome.wustl.edu	37	12	2742864	2742864	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:2742864C>G	ENST00000347598.4	+	31	3958	c.3958C>G	c.(3958-3960)Ctc>Gtc	p.L1320V	CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399649.1_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	1320					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)	TGACGTCATTCTCAGTGAGAC	0.473																																																	0													206.0	174.0	184.0					12																	2742864		1568	3582	5150	SO:0001583	missense	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.3958C>G	12.37:g.2742864C>G	ENSP00000266376:p.Leu1320Val		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	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L1320V	ENST00000347598.4	37	c.3958	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662223	0.14645	.	.	ENSG00000151067	ENST00000399644;ENST00000399638;ENST00000399597;ENST00000347598;ENST00000399629;ENST00000402845;ENST00000399603;ENST00000399617;ENST00000406454	D;D;D;D;D;D;D;D;D	0.98777	-5.13;-4.49;-5.13;-4.49;-4.49;-5.13;-5.13;-5.13;-5.13	5.31	5.31	0.75309	.	.	.	.	.	D	0.98311	0.9440	L	0.28694	0.88	0.80722	D	1	B;D;B;B;B;B;B;B;B;B;B	0.76494	0.019;0.999;0.006;0.011;0.006;0.013;0.0;0.006;0.009;0.001;0.001	B;D;B;B;B;B;B;B;B;B;B	0.80764	0.019;0.994;0.036;0.019;0.047;0.077;0.004;0.047;0.015;0.027;0.007	D	0.98701	1.0700	9	0.33141	T	0.24	.	18.9803	0.92752	0.0:1.0:0.0:0.0	.	1297;1320;1300;1300;1300;1300;1300;1320;1300;1300;1300	Q13936-35;Q13936;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-11;E9PDJ1;E9PDJ0;F5GY28	.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.	V	1300;1300;1300;1320;1300;1300;1300;1300;1300	ENSP00000382552:L1300V;ENSP00000382547:L1300V;ENSP00000382506:L1300V;ENSP00000266376:L1320V;ENSP00000382537:L1300V;ENSP00000385724:L1300V;ENSP00000382512:L1300V;ENSP00000382526:L1300V;ENSP00000385896:L1300V	ENSP00000266376:L1320V	L	+	1	0	CACNA1C	2613125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.496000	0.84212	0.561000	0.74099	CTC	CACNA1C	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000151067		0.473	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0.00	35	0	C	NM_000719		2742864	+1			no_errors	ENST00000347598	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	G
CASS4	57091	genome.wustl.edu	37	20	55012582	55012582	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr20:55012582delC	ENST00000360314.3	+	3	624	c.399delC	c.(397-399)ttcfs	p.F133fs	CASS4_ENST00000371336.3_Frame_Shift_Del_p.F133fs|CASS4_ENST00000434344.1_Frame_Shift_Del_p.F133fs	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	133					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCTATGAATTCCCCGACCCTC	0.572																																																	0													72.0	77.0	76.0					20																	55012582		2188	4276	6464	SO:0001589	frameshift_variant	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.399delC	20.37:g.55012582delC	ENSP00000353462:p.Phe133fs		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Frame_Shift_Del	DEL	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D135fs	ENST00000360314.3	37	c.399	CCDS33492.1	20																																																																																			CASS4	-	NULL	ENSG00000087589		0.572	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2		0.00	30	0	C	NM_020356		55012582	+1	tier1		no_errors	ENST00000360314	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.000	-
CCDC60	160777	genome.wustl.edu	37	12	119961500	119961500	+	Missense_Mutation	SNP	G	G	A	rs373413433		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:119961500G>A	ENST00000327554.2	+	11	1571	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	369										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)		GTCCACAGCCGCACTAATTGT	0.567																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	84.0	90.0		1106	2.4	0.4	12		90	0,8600		0,0,4300	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	369/551	119961500	1,13005	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.1106G>A	12.37:g.119961500G>A	ENSP00000333374:p.Arg369His			Missense_Mutation	SNP	NULL	p.R369H	ENST00000327554.2	37	c.1106	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	2.27E-4	0.0	ENSG00000183273	ENST00000327554	T	0.24908	1.83	3.3	2.4	0.29515	.	0.672928	0.12900	N	0.429887	T	0.26774	0.0655	M	0.68317	2.08	0.24564	N	0.993951	D	0.54397	0.966	B	0.43445	0.42	T	0.14615	-1.0466	9	.	.	.	-2.595	6.4144	0.21708	0.1358:0.0:0.8642:0.0	.	369	Q8IWA6	CCD60_HUMAN	H	369	ENSP00000333374:R369H	.	R	+	2	0	CCDC60	118445883	0.008000	0.16893	0.372000	0.25991	0.317000	0.28152	0.149000	0.16243	0.957000	0.37930	0.655000	0.94253	CGC	CCDC60	-	NULL	ENSG00000183273		0.567	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	-	0.00	42	0	G	NM_178499		119961500	+1	tier1	-	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.373	A
CDH11	1009	genome.wustl.edu	37	16	65032644	65032644	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr16:65032644G>T	ENST00000268603.4	-	4	959	c.344C>A	c.(343-345)aCg>aAg	p.T115K	CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.T115K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	115	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)|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)		TCGATCCAACGTCTTGGTGGC	0.502			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													157.0	119.0	132.0					16																	65032644		2203	4300	6503	SO:0001583	missense	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.344C>A	16.37:g.65032644G>T	ENSP00000268603:p.Thr115Lys		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T115K	ENST00000268603.4	37	c.344	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105752	0.37145	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.50277	0.75;0.75	5.87	4.92	0.64577	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	N	0.02142	-0.665	0.80722	D	1	D;P	0.89917	1.0;0.905	D;B	0.81914	0.995;0.286	T	0.52704	-0.8540	10	0.19147	T	0.46	.	15.9628	0.79945	0.0:0.0:0.8642:0.1357	.	115;115	P55287-2;P55287	.;CAD11_HUMAN	K	115;115;98;115	ENSP00000268603:T115K;ENSP00000377711:T115K	ENSP00000268603:T115K	T	-	2	0	CDH11	63590145	1.000000	0.71417	0.912000	0.35992	0.783000	0.44284	4.213000	0.58520	1.623000	0.50342	-0.152000	0.13540	ACG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000140937		0.502	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1		0.00	40	0	G	NM_033664		65032644	-1			no_errors	ENST00000268603	ensembl	human	known	74_37	missense	5.13	36	2	SNP	0.995	T
CDH4	1002	genome.wustl.edu	37	20	60498710	60498710	+	Silent	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr20:60498710C>T	ENST00000360469.5	+	10	1664	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L	CDH4_ENST00000543233.1_Silent_p.L452L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	526	Cadherin 4. {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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGCACCGTGCTGACCACGTT	0.622																																																	0													65.0	55.0	58.0					20																	60498710		2203	4300	6503	SO:0001819	synonymous_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1576C>T	20.37:g.60498710C>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.L526	ENST00000360469.5	37	c.1576	CCDS13488.1	20																																																																																			CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000179242		0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0.00	28	0	C	NM_001794		60498710	+1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.980	T
CELSR1	9620	genome.wustl.edu	37	22	46759904	46759904	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr22:46759904G>T	ENST00000262738.3	-	34	9023	c.9024C>A	c.(9022-9024)ggC>ggA	p.G3008G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	3008					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGAGTCGGAGCCATCGGCCT	0.662																																																	0													15.0	18.0	17.0					22																	46759904		2181	4288	6469	SO:0001819	synonymous_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.9024C>A	22.37:g.46759904G>T			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	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.G3008	ENST00000262738.3	37	c.9024	CCDS14076.1	22																																																																																			CELSR1	-	NULL	ENSG00000075275		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0.00	31	0	G	NM_014246		46759904	-1	tier1	-	no_errors	ENST00000262738	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.056	T
CLCA4	22802	genome.wustl.edu	37	1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.T61M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAGCTTCTACGTACCTGTTT	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											138.0	124.0	128.0					1																	87025637		1820	4083	5903	SO:0001583	missense	0			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.182C>T	1.37:g.87025637C>T	ENSP00000359594:p.Thr61Met		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.T61M	ENST00000370563.3	37	c.182	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303901	0.40795	.	.	ENSG00000016602	ENST00000370563	T	0.12465	2.68	5.82	2.79	0.32731	Chloride channel calcium-activated (1);	0.957600	0.08747	N	0.899695	T	0.10380	0.0254	M	0.72894	2.215	0.18873	N	0.999986	P	0.42483	0.781	P	0.48571	0.582	T	0.30357	-0.9981	10	0.33940	T	0.23	-4.8939	6.2731	0.20965	0.2637:0.5996:0.0:0.1366	.	61	Q14CN2	CLCA4_HUMAN	M	61	ENSP00000359594:T61M	ENSP00000359594:T61M	T	+	2	0	CLCA4	86798225	0.000000	0.05858	0.161000	0.22692	0.786000	0.44442	0.637000	0.24659	0.768000	0.33290	0.655000	0.94253	ACG	CLCA4	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000016602		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1		0.00	20	0	C	NM_012128		87025637	+1			no_errors	ENST00000370563	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.010	T
COQ10A	93058	genome.wustl.edu	37	12	56661666	56661666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:56661666G>T	ENST00000308197.5	+	2	484	c.223G>T	c.(223-225)Gga>Tga	p.G75*	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000433805.2_Nonsense_Mutation_p.G43*|COQ10A_ENST00000546544.1_Nonsense_Mutation_p.G58*	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	75						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TTCCTTCATGGGATTTGCTGC	0.562																																																	0													135.0	138.0	137.0					12																	56661666		2055	4200	6255	SO:0001587	stop_gained	0			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.223G>T	12.37:g.56661666G>T	ENSP00000312587:p.Gly75*		Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Nonsense_Mutation	SNP	pfam_Polyket_cyc	p.G75*	ENST00000308197.5	37	c.223	CCDS41796.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.296252|5.296252	0.95574|0.95574	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000553234|ENST00000308197;ENST00000433805;ENST00000546544	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.047975|0.047975	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.41465|.	0.1160|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44544|.	-0.9321|.	4|.	.|0.09843	.|T	.|0.71	.|.	11.9878|11.9878	0.53157|0.53157	0.0848:0.0:0.9152:0.0|0.0848:0.0:0.9152:0.0	.|.	.|.	.|.	.|.	V|X	28|75;43;58	.|.	.|ENSP00000312587:G75X	G|G	+|+	2|1	0|0	COQ10A|COQ10A	54947933|54947933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.327000|3.327000	0.52045|0.52045	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	GGG|GGA	COQ10A	-	NULL	ENSG00000135469		0.562	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ10A	HGNC	protein_coding	OTTHUMT00000408332.1		0.00	23	0	G	NM_144576		56661666	+1			no_errors	ENST00000308197	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T
CXCR3	2833	genome.wustl.edu	37	X	70836449	70836449	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:70836449G>T	ENST00000373693.3	-	2	940	c.873C>A	c.(871-873)ggC>ggA	p.G291G	CXCR3_ENST00000373691.4_Silent_p.G338G	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	291					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TGCTTTCTCGGCCACAGTTGC	0.617																																																	0													70.0	52.0	58.0					X																	70836449		2203	4300	6503	SO:0001819	synonymous_variant	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.873C>A	X.37:g.70836449G>T			B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.G338	ENST00000373693.3	37	c.1014	CCDS14416.1	X																																																																																			CXCR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3	ENSG00000186810		0.617	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1		0.00	40	0	G			70836449	-1			no_errors	ENST00000373691	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.000	T
CYFIP2	26999	genome.wustl.edu	37	5	156819965	156819965	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:156819965G>T	ENST00000521420.1	+	30	3732	c.3641G>T	c.(3640-3642)tGc>tTc	p.C1214F	CYFIP2_ENST00000347377.6_Missense_Mutation_p.C1240F|CYFIP2_ENST00000541131.1_Missense_Mutation_p.C1165F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.C1265F|CYFIP2_ENST00000522463.1_Missense_Mutation_p.C1044F|CYFIP2_ENST00000377576.3_Missense_Mutation_p.C1240F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.C939F|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGTGCGCTGCTTCCAGCCA	0.502																																																	0													73.0	79.0	77.0					5																	156819965		2174	4291	6465	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3641G>T	5.37:g.156819965G>T	ENSP00000430904:p.Cys1214Phe			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.C1265F	ENST00000521420.1	37	c.3794		5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566789	0.86439	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.23348	2.23;2.23;2.23;2.23;2.23;2.24;1.91	5.38	5.38	0.77491	.	0.042697	0.85682	D	0.000000	T	0.30696	0.0773	L	0.29908	0.895	0.80722	D	1	B;B;B;P;B;P	0.45531	0.138;0.138;0.126;0.543;0.371;0.86	B;B;B;B;B;P	0.52309	0.032;0.032;0.013;0.129;0.157;0.695	T	0.01249	-1.1406	10	0.10902	T	0.67	-32.0067	19.5107	0.95140	0.0:0.0:1.0:0.0	.	1104;1044;1214;1240;1240;1265	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	F	1265;1044;1214;1240;1240;1165;939	ENSP00000325817:C1265F;ENSP00000428009:C1044F;ENSP00000430904:C1214F;ENSP00000313567:C1240F;ENSP00000366799:C1240F;ENSP00000444645:C1165F;ENSP00000403793:C939F	ENSP00000325817:C1265F	C	+	2	0	CYFIP2	156752543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.814000	0.99346	2.679000	0.91253	0.655000	0.94253	TGC	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.502	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0.00	25	0	G	NM_001037332		156819965	+1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
DCLRE1C	64421	genome.wustl.edu	37	10	14951002	14951002	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:14951002C>A	ENST00000378278.2	-	14	1521	c.1484G>T	c.(1483-1485)aGa>aTa	p.R495I	DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R148I|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R380I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R380I|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R380I			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	495					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTCATCATTTCTTTTAAAGAA	0.468								Non-homologous end-joining																																									0													56.0	55.0	55.0					10																	14951002		2203	4300	6503	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1484G>T	10.37:g.14951002C>A	ENSP00000367527:p.Arg495Ile		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.R495I	ENST00000378278.2	37	c.1484	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197718	0.38806	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.76	3.7	0.42460	.	0.477180	0.25258	N	0.031969	T	0.31231	0.0790	M	0.68317	2.08	0.21064	N	0.999793	P;B	0.44380	0.834;0.25	P;B	0.45506	0.483;0.064	T	0.12218	-1.0556	10	0.44086	T	0.13	.	10.0601	0.42270	0.0:0.7535:0.0:0.2465	.	380;495	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	I	375;380;380;380;375;375;375;495;375;148	ENSP00000400529:R375I;ENSP00000367492:R380I;ENSP00000350349:R380I;ENSP00000367496:R380I;ENSP00000380030:R375I;ENSP00000367503:R375I;ENSP00000367502:R375I;ENSP00000367527:R495I;ENSP00000367506:R375I;ENSP00000367488:R148I	ENSP00000350349:R380I	R	-	2	0	DCLRE1C	14991008	0.530000	0.26330	0.944000	0.38274	0.979000	0.70002	0.546000	0.23284	1.431000	0.47355	0.655000	0.94253	AGA	DCLRE1C	-	NULL	ENSG00000152457		0.468	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1		0.00	30	0	C	NM_022487		14951002	-1			no_errors	ENST00000378278	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.140	A
DIAPH3	81624	genome.wustl.edu	37	13	60557938	60557938	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr13:60557938C>T	ENST00000400324.4	-	13	1665	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R482Q|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R436Q|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R412Q|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R471Q|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R482Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	482					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TAGTCTTTTTCGATATGTGAA	0.318																																																	0													98.0	92.0	94.0					13																	60557938		1810	4070	5880	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1445G>A	13.37:g.60557938C>T	ENSP00000383178:p.Arg482Gln		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.R482Q	ENST00000400324.4	37	c.1445	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	34	5.323865	0.95708	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.82	5.82	0.92795	Diaphanous FH3 (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.80332	2.49	0.46823	D	0.999213	D;D;D	0.89917	1.0;1.0;0.998	D;P;D	0.74674	0.984;0.853;0.912	D	0.90873	0.4747	10	0.48119	T	0.1	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	219;219;482	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Q	482;482;471;436;412;471;412;436;482;219;482	ENSP00000383178:R482Q;ENSP00000383184:R482Q;ENSP00000367141:R471Q;ENSP00000383173:R412Q;ENSP00000383174:R436Q;ENSP00000267215:R482Q	ENSP00000267214:R219Q	R	-	2	0	DIAPH3	59455939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.756000	0.94617	0.563000	0.77884	CGA	DIAPH3	-	pfam_FH3_dom	ENSG00000139734		0.318	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0.00	82	0	C	NM_001042517		60557938	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	missense	6.11	123	8	SNP	1.000	T
DISP1	84976	genome.wustl.edu	37	1	223176007	223176007	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:223176007C>T	ENST00000284476.6	+	8	1432	c.1268C>T	c.(1267-1269)gCt>gTt	p.A423V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	423					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGTACAATGCTGTGTACCAG	0.498																																																	0													81.0	74.0	77.0					1																	223176007		2203	4300	6503	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1268C>T	1.37:g.223176007C>T	ENSP00000284476:p.Ala423Val		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.A423V	ENST00000284476.6	37	c.1268	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250416	0.80024	.	.	ENSG00000154309	ENST00000284476	D	0.85629	-2.01	5.05	5.05	0.67936	.	0.047098	0.85682	D	0.000000	D	0.90246	0.6950	L	0.53249	1.67	0.80722	D	1	D	0.55605	0.972	D	0.64687	0.928	D	0.90316	0.4341	10	0.54805	T	0.06	-34.9022	18.5942	0.91225	0.0:1.0:0.0:0.0	.	423	Q96F81	DISP1_HUMAN	V	423	ENSP00000284476:A423V	ENSP00000284476:A423V	A	+	2	0	DISP1	221242630	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.320000	0.79064	2.633000	0.89246	0.591000	0.81541	GCT	DISP1	-	NULL	ENSG00000154309		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	-	0.00	48	0	C	NM_032890		223176007	+1	tier1	-	no_errors	ENST00000284476	ensembl	human	novel	74_37	missense	7.27	51	4	SNP	1.000	T
DSCAML1	57453	genome.wustl.edu	37	11	117340692	117340692	+	Silent	SNP	G	G	T	rs199942618		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:117340692G>T	ENST00000321322.6	-	16	3139	c.3138C>A	c.(3136-3138)ccC>ccA	p.P1046P	DSCAML1_ENST00000527706.1_Silent_p.P776P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	986	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.P1046P(1)		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)		GGGGCCCATCGGGAGCTGAGC	0.567																																																	1	Substitution - coding silent(1)	endometrium(1)											92.0	86.0	88.0					11																	117340692		2201	4296	6497	SO:0001819	synonymous_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.3138C>A	11.37:g.117340692G>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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.P1046	ENST00000321322.6	37	c.3138	CCDS8384.1	11																																																																																			DSCAML1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2		0.00	43	0	G	NM_020693		117340692	-1			no_errors	ENST00000321322	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.997	T
EDEM2	55741	genome.wustl.edu	37	20	33714149	33714149	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr20:33714149G>T	ENST00000374492.3	-	8	979	c.874C>A	c.(874-876)Cgc>Agc	p.R292S	EDEM2_ENST00000540582.1_Missense_Mutation_p.R251S|EDEM2_ENST00000374491.3_Missense_Mutation_p.R255S|EDEM2_ENST00000542871.1_Missense_Mutation_p.R16S|EDEM2_ENST00000541621.1_Missense_Mutation_p.R71S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	292					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCATCGAAGCGGGTGTAGTTC	0.532																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													167.0	148.0	155.0					20																	33714149		2203	4300	6503	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.874C>A	20.37:g.33714149G>T	ENSP00000363616:p.Arg292Ser		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R292S	ENST00000374492.3	37	c.874	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916462	0.52546	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.18	5.18	0.71444	.	0.291012	0.34200	N	0.004178	T	0.64605	0.2613	L	0.45698	1.435	0.38297	D	0.942881	B;B;B;B	0.33512	0.302;0.27;0.415;0.259	B;B;B;B	0.35607	0.136;0.185;0.13;0.206	T	0.67821	-0.5571	10	0.41790	T	0.15	-8.706	11.9642	0.53025	0.0:0.0:0.7036:0.2964	.	251;71;255;292	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	S	255;292;71;16;251	ENSP00000363615:R255S;ENSP00000363616:R292S;ENSP00000443528:R71S;ENSP00000441642:R16S;ENSP00000441548:R251S	ENSP00000363615:R255S	R	-	1	0	EDEM2	33177810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.942000	0.70203	2.413000	0.81919	0.563000	0.77884	CGC	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.532	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	-	0.00	58	0	G	NM_018217		33714149	-1	tier1	-	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
AP001623.1	0	genome.wustl.edu	37	21	43720386	43720387	+	RNA	DEL	GT	GT	-	rs142198765		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr21:43720386_43720387delGT	ENST00000401378.1	-	0	68_69																											ACAGGGGCTGgtgtgtgtgtgt	0.55																																																	0										117,2837		8,101,1368						-0.2	0.0		dbSNP_134	70	210,4996		37,136,2430	no	intergenic				45,237,3798	A1A1,A1R,RR		4.0338,3.9607,4.0074				327,7833						0																															21.37:g.43720396_43720397delGT				RNA	DEL	-	NULL	ENST00000401378.1	37	NULL		21																																																																																			AP001623.1	-	-	ENSG00000216197		0.550	AP001623.1-201	NOVEL	basic	miRNA	ENSG00000216197	Clone_based_ensembl_gene	miRNA			0.00	17	0	GT			43720387	-1	tier1		no_errors	ENST00000401378	ensembl	human	novel	74_37	rna	15.00	17	3	DEL	0.001:0.000	-
LOC105372038	105372038	genome.wustl.edu	37	18	25081767	25081767	+	lincRNA	DEL	T	T	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr18:25081767delT	ENST00000584546.1	-	0	322																											gcagagagcatttttttttcc	0.483																																																	0																																												0																															18.37:g.25081767delT				RNA	DEL	-	NULL	ENST00000584546.1	37	NULL		18																																																																																			RP11-739N10.1	-	-	ENSG00000264151		0.483	RP11-739N10.1-001	KNOWN	basic	lincRNA	ENSG00000264151	Clone_based_vega_gene	lincRNA	OTTHUMT00000447183.1		0.00	10	0	T			25081767	-1	tier1		no_errors	ENST00000584546	ensembl	human	known	74_37	rna	57.14	3	4	DEL	0.061	-
AL353763.2	0	genome.wustl.edu	37	9	68997433	68997433	+	RNA	SNP	C	C	T	rs77309871	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr9:68997433C>T	ENST00000583495.1	-	0	51																											ttccagaatgctgctatgagg	0.478																																																	0																																												0																															9.37:g.68997433C>T				RNA	SNP	-	NULL	ENST00000583495.1	37	NULL		9																																																																																			AL353763.2	-	-	ENSG00000266021		0.478	AL353763.2-201	NOVEL	basic	miRNA	ENSG00000266021	Clone_based_ensembl_gene	miRNA		-	0.00	17	0	C			68997433	-1	tier1	rs77309871	no_errors	ENST00000583495	ensembl	human	novel	74_37	rna	20.00	16	4	SNP	0.000	T
EPS8	2059	genome.wustl.edu	37	12	15784375	15784375	+	Splice_Site	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:15784375C>T	ENST00000281172.5	-	18	2481		c.e18+1		EPS8_ENST00000543523.1_Splice_Site|EPS8_ENST00000542903.1_Splice_Site|EPS8_ENST00000540613.1_Splice_Site|EPS8_ENST00000543612.1_Splice_Site	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGAAACTTACGGTCCACCGG	0.418																																																	0													130.0	123.0	125.0					12																	15784375		2203	4300	6503	SO:0001630	splice_region_variant	0			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2044+1G>A	12.37:g.15784375C>T			A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Splice_Site	SNP	-	e17+1	ENST00000281172.5	37	c.2044+1	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109205	0.77096	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3629	0.90380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS8	15675642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.355000	0.66046	2.771000	0.95319	0.650000	0.86243	.	EPS8	-	-	ENSG00000151491		0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1		0.00	31	0	C		Intron	15784375	-1			no_errors	ENST00000281172	ensembl	human	known	74_37	splice_site	6.67	28	2	SNP	1.000	T
FAM124B	79843	genome.wustl.edu	37	2	225266459	225266459	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:225266459G>T	ENST00000409685.3	-	1	292	c.27C>A	c.(25-27)gcC>gcA	p.A9A	FAM124B_ENST00000243806.2_Silent_p.A9A|FAM124B_ENST00000389874.3_Silent_p.A9A	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	9										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGACAGTCATGGCCAGAGGCC	0.547																																																	0													33.0	37.0	36.0					2																	225266459		2200	4300	6500	SO:0001819	synonymous_variant	0			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.27C>A	2.37:g.225266459G>T			A6NNC7|Q8NBZ4|Q8TAV7	Silent	SNP	NULL	p.A9	ENST00000409685.3	37	c.27	CCDS46527.1	2																																																																																			FAM124B	-	NULL	ENSG00000124019		0.547	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1		0.00	26	0	G	NM_024785		225266459	-1			no_errors	ENST00000409685	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.040	T
RP1-274L7.1	0	genome.wustl.edu	37	X	129629717	129629717	+	lincRNA	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:129629717G>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CGGTCCAGGAGTTCACCAGGA	0.507																																																	0													135.0	112.0	120.0					X																	129629717		2203	4300	6503			0																															X.37:g.129629717G>T				RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			FAM45B	-	-	ENSG00000221930		0.507	RP1-274L7.1-001	KNOWN	basic	lincRNA	FAM45B	HGNC	lincRNA	OTTHUMT00000058271.1		0.00	56	0	G			129629717	+1			no_errors	ENST00000592932	ensembl	human	known	74_37	rna	5.56	68	4	SNP	1.000	T
FAM73B	84895	genome.wustl.edu	37	9	131832593	131832593	+	Missense_Mutation	SNP	C	C	T	rs202169772		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr9:131832593C>T	ENST00000358369.4	+	16	1869	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	548					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TCACTGCCCGCGCTGGCAGAC	0.672													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.0																0								C	VAL/ALA	0,4404		0,0,2202	61.0	48.0	53.0		1643	5.7	0.2	9		53	1,8597		0,1,4298	no	missense	FAM73B	NM_032809.2	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	548/594	131832593	1,13001	2202	4299	6501	SO:0001583	missense	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1643C>T	9.37:g.131832593C>T	ENSP00000351138:p.Ala548Val		Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	pfam_DUF2217	p.A548V	ENST00000358369.4	37	c.1643	CCDS6917.1	9	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.86	2.362229	0.41902	0.0	1.16E-4	ENSG00000148343	ENST00000358369	T	0.23552	1.9	5.67	5.67	0.87782	.	0.276732	0.35772	N	0.002986	T	0.24699	0.0599	L	0.40543	1.245	0.50632	D	0.999888	P;B	0.49358	0.923;0.35	P;B	0.44518	0.452;0.164	T	0.00839	-1.1545	10	0.37606	T	0.19	.	12.0548	0.53529	0.0:0.9131:0.0:0.0869	.	124;548	Q96NP4;Q7L4E1	.;FA73B_HUMAN	V	548	ENSP00000351138:A548V	ENSP00000351138:A548V	A	+	2	0	FAM73B	130872414	0.905000	0.30787	0.210000	0.23637	0.518000	0.34316	2.271000	0.43364	2.668000	0.90789	0.655000	0.94253	GCG	FAM73B	-	pfam_DUF2217	ENSG00000148343		0.672	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7		0.00	37	0	C	NM_032809		131832593	+1			no_errors	ENST00000358369	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.176	T
FBXW7	55294	genome.wustl.edu	37	4	153251886	153251886	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:153251886T>G	ENST00000281708.4	-	7	2349	c.1120A>C	c.(1120-1122)Aag>Cag	p.K374Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.K374Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.K374Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.K256Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.K198Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.K294Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	374					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCAGTTACCTTAGGAGATTTG	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											299.0	257.0	271.0					4																	153251886		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1120A>C	4.37:g.153251886T>G	ENSP00000281708:p.Lys374Gln		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K374Q	ENST00000281708.4	37	c.1120	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238852	0.58995	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.041118	0.85682	D	0.000000	T	0.18467	0.0443	N	0.21373	0.66	0.80722	D	1	P;P;P;P	0.51933	0.851;0.949;0.82;0.72	B;P;B;B	0.47102	0.327;0.537;0.277;0.277	T	0.00907	-1.1519	10	0.52906	T	0.07	-24.2673	16.6277	0.84984	0.0:0.0:0.0:1.0	.	198;374;256;294	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	374;256;294;198	ENSP00000281708:K374Q;ENSP00000296555:K256Q;ENSP00000263981:K294Q;ENSP00000377528:K198Q	ENSP00000263981:K294Q	K	-	1	0	FBXW7	153471336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.330000	0.79161	0.528000	0.53228	AAG	FBXW7	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000109670		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0.00	38	0	T			153251886	-1			no_errors	ENST00000281708	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	G
FGF23	8074	genome.wustl.edu	37	12	4479941	4479941	+	Missense_Mutation	SNP	G	G	T	rs201114020		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:4479941G>T	ENST00000237837.1	-	3	469	c.324C>A	c.(322-324)ttC>ttA	p.F108L		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	108					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F108F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617																																																	1	Substitution - coding silent(1)	skin(1)											70.0	67.0	68.0					12																	4479941		2202	4300	6502	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.324C>A	12.37:g.4479941G>T	ENSP00000237837:p.Phe108Leu		Q4V758	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.F108L	ENST00000237837.1	37	c.324	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084539	0.55861	.	.	ENSG00000118972	ENST00000237837	D	0.90133	-2.62	4.88	4.88	0.63580	.	0.044496	0.85682	D	0.000000	D	0.93390	0.7892	L	0.52126	1.63	0.47037	D	0.999296	D	0.71674	0.998	D	0.66979	0.948	D	0.92791	0.6248	10	0.41790	T	0.15	-4.2235	18.2026	0.89843	0.0:0.0:1.0:0.0	.	108	Q9GZV9	FGF23_HUMAN	L	108	ENSP00000237837:F108L	ENSP00000237837:F108L	F	-	3	2	FGF23	4350202	1.000000	0.71417	0.742000	0.31022	0.004000	0.04260	4.821000	0.62679	2.526000	0.85167	0.549000	0.68633	TTC	FGF23	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000118972		0.617	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1		0.00	36	0	G			4479941	-1			no_errors	ENST00000237837	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.992	T
FMR1	2332	genome.wustl.edu	37	X	147010265	147010265	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:147010265C>A	ENST00000370475.4	+	5	487	c.359C>A	c.(358-360)cCt>cAt	p.P120H	FMR1_ENST00000334557.6_Missense_Mutation_p.P120H|FMR1_ENST00000218200.8_Missense_Mutation_p.P120H|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.P120H|FMR1_ENST00000370471.3_Missense_Mutation_p.P120H|FMR1_ENST00000370477.1_Missense_Mutation_p.P120H|FMR1_ENST00000370470.1_Missense_Mutation_p.P120H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	120					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAACAAACCTGCCACAAAA	0.363									Fragile X syndrome																																								0													91.0	86.0	88.0					X																	147010265		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.359C>A	X.37:g.147010265C>A	ENSP00000359506:p.Pro120His		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.P120H	ENST00000370475.4	37	c.359	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562855	0.86335	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.59364	1.04;0.27;1.06;1.03;1.37;1.05;1.07	5.25	5.25	0.73442	.	0.048450	0.85682	D	0.000000	T	0.75939	0.3918	M	0.73962	2.25	0.80722	D	1	P;D;D;D	0.76494	0.886;0.999;0.997;0.988	D;D;D;P	0.79784	0.944;0.993;0.948;0.862	T	0.78036	-0.2361	10	0.54805	T	0.06	-11.2593	16.9579	0.86264	0.0:1.0:0.0:0.0	.	120;120;120;120	Q8IXW7;Q06787;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.	H	120	ENSP00000218200:P120H;ENSP00000359502:P120H;ENSP00000359508:P120H;ENSP00000359506:P120H;ENSP00000355115:P120H;ENSP00000395923:P120H;ENSP00000359501:P120H	ENSP00000218200:P120H	P	+	2	0	FMR1	146817957	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.674000	0.83992	2.299000	0.77371	0.538000	0.68166	CCT	FMR1	-	NULL	ENSG00000102081		0.363	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	-	0.00	131	0	C	NM_002024		147010265	+1	tier1	-	no_errors	ENST00000370475	ensembl	human	known	74_37	missense	5.56	119	7	SNP	1.000	A
FST	10468	genome.wustl.edu	37	5	52780850	52780850	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:52780850C>A	ENST00000256759.3	+	5	1128	c.745C>A	c.(745-747)Cag>Aag	p.Q249K	FST_ENST00000396947.3_Missense_Mutation_p.Q249K	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	249	Follistatin-like 3.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TGAAGATATCCAGTGCACTGG	0.463																																																	0													149.0	149.0	149.0					5																	52780850		2203	4300	6503	SO:0001583	missense	0			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.745C>A	5.37:g.52780850C>A	ENSP00000256759:p.Gln249Lys		B5BU94|Q9BTH0	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom	p.Q249K	ENST00000256759.3	37	c.745	CCDS3959.1	5	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127309	0.37533	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.28454	1.61;1.84;2.05	5.75	5.75	0.90469	Follistatin-like, N-terminal (1);	0.162761	0.56097	D	0.000022	T	0.25531	0.0621	L	0.27053	0.805	0.80722	D	1	B	0.16802	0.019	B	0.10450	0.005	T	0.04915	-1.0918	10	0.20046	T	0.44	-9.1477	19.9522	0.97203	0.0:1.0:0.0:0.0	.	249	P19883	FST_HUMAN	K	249;249;249;120	ENSP00000256759:Q249K;ENSP00000380151:Q249K;ENSP00000426315:Q120K	ENSP00000256759:Q249K	Q	+	1	0	FST	52816607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.819000	0.62664	2.725000	0.93324	0.655000	0.94253	CAG	FST	-	smart_Fol_N	ENSG00000134363		0.463	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FST	HGNC	protein_coding	OTTHUMT00000253906.1		0.00	70	0	C	NM_013409		52780850	+1			no_errors	ENST00000256759	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A
GABRG1	2565	genome.wustl.edu	37	4	46060257	46060257	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:46060257G>A	ENST00000295452.4	-	7	1060	c.893C>T	c.(892-894)gCa>gTa	p.A298V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	298					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)	TGCAGGCACTGCATCTTTATT	0.358																																																	0													96.0	94.0	95.0					4																	46060257		2203	4300	6503	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.893C>T	4.37:g.46060257G>A	ENSP00000295452:p.Ala298Val		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A298V	ENST00000295452.4	37	c.893	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491873	0.84962	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.89196	-2.48	5.53	5.53	0.82687	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.051812	0.85682	D	0.000000	D	0.93294	0.7863	M	0.80616	2.505	0.58432	D	0.999999	P	0.50617	0.937	P	0.54026	0.74	D	0.93833	0.7129	10	0.87932	D	0	.	18.8699	0.92309	0.0:0.0:1.0:0.0	.	298	Q8N1C3	GBRG1_HUMAN	V	298	ENSP00000295452:A298V	ENSP00000295452:A298V	A	-	2	0	GABRG1	45755014	1.000000	0.71417	0.984000	0.44739	0.478000	0.33099	9.721000	0.98766	2.782000	0.95742	0.549000	0.68633	GCA	GABRG1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163285		0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	-	0.00	54	0	G	NM_173536		46060257	-1	tier1	-	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	A
GLIPR1L2	144321	genome.wustl.edu	37	12	75816822	75816822	+	Intron	SNP	A	A	G	rs75261424		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:75816822A>G	ENST00000550916.1	+	4	717				GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000378692.3_Intron|GLIPR1L2_ENST00000441218.1_Intron|GLIPR1L2_ENST00000320460.4_Silent_p.K241K	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGACAAGAAAAATAAGCGAT	0.313																																																	0													109.0	111.0	110.0					12																	75816822		2203	4300	6503	SO:0001627	intron_variant	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.670+53A>G	12.37:g.75816822A>G			Q6MZS1|Q8N6N0|Q8NA43	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.K241	ENST00000550916.1	37	c.723	CCDS58258.1	12																																																																																			GLIPR1L2	-	NULL	ENSG00000180481		0.313	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1		0.00	42	0	A	NM_152436		75816822	+1			no_errors	ENST00000320460	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.002	G
GPR113	165082	genome.wustl.edu	37	2	26569062	26569062	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:26569062G>T	ENST00000333478.6	-	1	623	c.41C>A	c.(40-42)cCc>cAc	p.P14H	GPR113_ENST00000541401.1_5'UTR|GPR113_ENST00000459892.1_5'Flank|EPT1_ENST00000462301.1_3'UTR|EPT1_ENST00000260585.7_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	351					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)					CTTGTAGCCGGGAGTCGCTGC	0.627																																																	0													45.0	52.0	50.0					2																	26569062		2149	4241	6390	SO:0001583	missense	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	ENST00000333478.6:c.41C>A	2.37:g.26569062G>T	ENSP00000327396:p.Pro14His		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	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.P14H	ENST00000333478.6	37	c.41	CCDS33159.2	2	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549691	0.27652	.	.	ENSG00000173567	ENST00000333478;ENST00000433584	T	0.31247	1.5	5.82	3.44	0.39384	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.22034	N	0.999404	P	0.47409	0.895	P	0.47162	0.54	T	0.14559	-1.0468	8	0.87932	D	0	.	7.4624	0.27302	0.752:0.0:0.248:0.0	.	14	Q8IZF5-2	.	H	14	ENSP00000327396:P14H	ENSP00000327396:P14H	P	-	2	0	GPR113	26422566	0.003000	0.15002	0.973000	0.42090	0.416000	0.31233	0.310000	0.19356	1.042000	0.40150	-0.320000	0.08662	CCC	GPR113	-	NULL	ENSG00000173567		0.627	GPR113-009	KNOWN	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000317218.1	-	0.00	55	0	G	NM_153835		26569062	-1	tier1	-	no_errors	ENST00000333478	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.042	T
GPR52	9293	genome.wustl.edu	37	1	174417596	174417596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:174417596delT	ENST00000367685.2	+	1	385	c.347delT	c.(346-348)gttfs	p.V116fs	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTTGCCAGGTTTTTGGATAT	0.433																																					Ovarian(92;924 1390 1930 16467 40583)												0													217.0	216.0	216.0					1																	174417596		2203	4300	6503	SO:0001589	frameshift_variant	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.347delT	1.37:g.174417596delT	ENSP00000356658:p.Val116fs		O75654|Q4VBL6|Q6ISM0	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F117fs	ENST00000367685.2	37	c.347	CCDS30941.1	1																																																																																			GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000203737		0.433	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1		0.00	52	0	T	NM_005684		174417596	+1	tier1		no_errors	ENST00000367685	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-
GTPBP2	54676	genome.wustl.edu	37	6	43589849	43589849	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr6:43589849G>T	ENST00000307126.5	-	11	1522	c.1523C>A	c.(1522-1524)gCa>gAa	p.A508E	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.A420E	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GACTATCTCTGCCTCAAACAC	0.562																																					GBM(116;405 1620 28302 32150 44768)												0													150.0	123.0	132.0					6																	43589849		2203	4300	6503	SO:0001583	missense	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1523C>A	6.37:g.43589849G>T	ENSP00000303997:p.Ala508Glu			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.A508E	ENST00000307126.5	37	c.1523	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962977	0.92791	.	.	ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114;ENST00000434548	T;T	0.50277	0.75;0.83	5.79	5.79	0.91817	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.979	T	0.80346	-0.1421	10	0.87932	D	0	-14.0834	20.0413	0.97592	0.0:0.0:1.0:0.0	.	500;508	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	E	150;508;420;104	ENSP00000303997:A508E;ENSP00000304893:A420E	ENSP00000304893:A420E	A	-	2	0	GTPBP2	43697827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	GCA	GTPBP2	-	superfamily_Transl_elong_EF1A/Init_IF2_C	ENSG00000172432		0.562	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1		0.00	24	0	G			43589849	-1			no_errors	ENST00000307126	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T
HELB	92797	genome.wustl.edu	37	12	66700275	66700275	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:66700275G>T	ENST00000247815.4	+	3	817	c.758G>T	c.(757-759)tGg>tTg	p.W253L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	253					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACACATCCGTGGAAACTTGGA	0.363																																																	0													99.0	104.0	102.0					12																	66700275		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.758G>T	12.37:g.66700275G>T	ENSP00000247815:p.Trp253Leu		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.W253L	ENST00000247815.4	37	c.758	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381537	0.82792	.	.	ENSG00000127311	ENST00000247815	T	0.47869	0.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.71581	2.175	0.51767	D	0.999931	D	0.89917	1.0	D	0.85130	0.997	T	0.67059	-0.5766	9	.	.	.	-12.9893	20.2664	0.98460	0.0:0.0:1.0:0.0	.	253	Q8NG08	HELB_HUMAN	L	253	ENSP00000247815:W253L	.	W	+	2	0	HELB	64986542	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.778000	0.75043	2.786000	0.95864	0.561000	0.74099	TGG	HELB	-	NULL	ENSG00000127311		0.363	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1		0.00	48	0	G			66700275	+1			no_errors	ENST00000247815	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
HJURP	55355	genome.wustl.edu	37	2	234749814	234749814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:234749814G>A	ENST00000411486.2	-	8	1677	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*	HJURP_ENST00000432087.1_Nonsense_Mutation_p.Q484*|HJURP_ENST00000441687.1_Nonsense_Mutation_p.Q453*|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	538					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCAGATGTCTGCTGCGGGCGA	0.493																																																	0													133.0	137.0	136.0					2																	234749814		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1612C>T	2.37:g.234749814G>A	ENSP00000414109:p.Gln538*		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Nonsense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.Q538*	ENST00000411486.2	37	c.1612	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429787	0.83776	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	.	.	.	3.87	3.0	0.34707	.	1.264420	0.05494	N	0.557304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	1.768	7.4844	0.27423	0.1158:0.0:0.8842:0.0	.	.	.	.	X	538;484;453;453	.	ENSP00000414109:Q538X	Q	-	1	0	HJURP	234414553	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.806000	0.27126	1.226000	0.43582	-0.136000	0.14681	CAG	HJURP	-	NULL	ENSG00000123485		0.493	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6		0.00	40	0	G	NM_018410		234749814	-1			no_errors	ENST00000411486	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.001	A
HNF1A	6927	genome.wustl.edu	37	12	121434647	121434647	+	Missense_Mutation	SNP	A	A	T	rs113111047		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:121434647A>T	ENST00000402929.1	+	6	1546	c.1411A>T	c.(1411-1413)Aca>Tca	p.T471S	HNF1A_ENST00000544413.1_Intron|HNF1A_ENST00000541395.1_Intron|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000257555.6_Intron|HNF1A_ENST00000400024.2_Intron|HNF1A_ENST00000543427.1_Missense_Mutation_p.T354S			P20823	HNF1A_HUMAN	HNF1 homeobox A	0					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					attcattcatacaacatgtat	0.517									Hepatic Adenoma, Familial Clustering of																																								0																																										SO:0001583	missense	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000402929.1:c.1411A>T	12.37:g.121434647A>T	ENSP00000475300:p.Thr471Ser		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T354S	ENST00000402929.1	37	c.1060		12	.	.	.	.	.	.	.	.	.	.	A	4.757	0.140725	0.09083	.	.	ENSG00000135100	ENST00000543427	D	0.99880	-7.45	1.75	-2.62	0.06152	.	.	.	.	.	D	0.99064	0.9679	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.99999	1.7441	5	.	.	.	.	2.176	0.03862	0.3635:0.0:0.1646:0.4719	.	.	.	.	S	354	ENSP00000439721:T354S	.	T	+	1	0	HNF1A	119919030	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.580000	0.00907	-0.680000	0.05211	-2.195000	0.00310	ACA	HNF1A	-	NULL	ENSG00000135100		0.517	HNF1A-003	PUTATIVE	basic	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320959.3	-	0.00	22	0	A	NM_000545		121434647	+1	tier1	rs113111047	no_errors	ENST00000543427	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.001	T
HSD17B7P2	158160	genome.wustl.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																																	0																																												0					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G				RNA	SNP	-	NULL	ENST00000494540.1	37	NULL		10																																																																																			HSD17B7P2	-	-	ENSG00000099251		0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	HSD17B7P2	HGNC	pseudogene	OTTHUMT00000047631.2		0.00	55	0	A	NR_003086		38654432	+1			no_errors	ENST00000494540	ensembl	human	known	74_37	rna	6.35	59	4	SNP	1.000	G
HSPG2	3339	genome.wustl.edu	37	1	22203105	22203105	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:22203105C>T	ENST00000374695.3	-	22	2805	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	909	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.			G -> R (in Ref. 2; CAA44373 and 6; AAB21121). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGGAAAGAGCCGTCAGCACA	0.597																																																	0													112.0	86.0	95.0					1																	22203105		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2726G>A	1.37:g.22203105C>T	ENSP00000363827:p.Gly909Asp		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G909D	ENST00000374695.3	37	c.2726	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635943	0.47049	.	.	ENSG00000142798	ENST00000374695	T	0.68624	-0.34	5.01	5.01	0.66863	EGF-like, laminin (3);	0.000000	0.40640	N	0.001041	D	0.85517	0.5715	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88345	0.2977	10	0.52906	T	0.07	.	15.8253	0.78698	0.0:1.0:0.0:0.0	.	909	P98160	PGBM_HUMAN	D	909	ENSP00000363827:G909D	ENSP00000363827:G909D	G	-	2	0	HSPG2	22075692	1.000000	0.71417	0.657000	0.29651	0.017000	0.09413	5.200000	0.65158	2.339000	0.79563	0.561000	0.74099	GGC	HSPG2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000142798		0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0.00	25	0	C	NM_005529		22203105	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
IL1RAP	3556	genome.wustl.edu	37	3	190366259	190366259	+	Missense_Mutation	SNP	G	G	T	rs148316157		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:190366259G>T	ENST00000412504.2	+	11	1730	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L	IL1RAP_ENST00000447382.1_Missense_Mutation_p.R493L|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R493L|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R493L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	493	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.R493L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGGCCTCTCGGGGCAACATC	0.512																																																	1	Substitution - Missense(1)	lung(1)						G	LEU/ARG,LEU/ARG,,LEU/ARG	0,4406		0,0,2203	93.0	95.0	95.0		1478,1478,,1478	2.9	1.0	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167931.1,NM_002182.3	102,102,,102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,,benign	493/571,493/571,,493/571	190366259	1,13005	2203	4300	6503	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1478G>T	3.37:g.190366259G>T	ENSP00000412053:p.Arg493Leu		B1NLD0|D3DNW0|O14915|Q86WJ7	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	p.R493L	ENST00000412504.2	37	c.1478	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847699	0.32606	0.0	1.16E-4	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.64	2.9	0.33743	Toll/interleukin-1 receptor homology (TIR) domain (4);	1.590950	0.03399	N	0.203003	T	0.06234	0.0161	N	0.05124	-0.11	0.23120	N	0.998266	B	0.06786	0.001	B	0.18561	0.022	T	0.43426	-0.9392	10	0.39692	T	0.17	.	9.9844	0.41832	0.3668:0.0:0.6332:0.0	.	493	Q9NPH3	IL1AP_HUMAN	L	493	ENSP00000072516:R493L;ENSP00000412053:R493L;ENSP00000401132:R493L;ENSP00000390541:R493L	ENSP00000072516:R493L	R	+	2	0	IL1RAP	191848953	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.009000	0.29886	0.085000	0.17107	-1.151000	0.01829	CGG	IL1RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000196083		0.512	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1		0.00	36	0	G			190366259	+1			no_errors	ENST00000072516	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
IL4I1	259307	genome.wustl.edu	37	19	50398401	50398401	+	Missense_Mutation	SNP	G	G	T	rs150016115		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr19:50398401G>T	ENST00000391826.2	-	4	431	c.289C>A	c.(289-291)Cgc>Agc	p.R97S	IL4I1_ENST00000341114.3_Missense_Mutation_p.R119S|IL4I1_ENST00000595948.1_Missense_Mutation_p.R119S	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	97						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.R119C(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GTGAAGATGCGGCCCCCGATC	0.647																																																	1	Substitution - Missense(1)	lung(1)											106.0	87.0	93.0					19																	50398401		2203	4300	6503	SO:0001583	missense	0			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.289C>A	19.37:g.50398401G>T	ENSP00000375702:p.Arg97Ser		Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.R119S	ENST00000391826.2	37	c.355	CCDS12787.1	19	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592777	0.86953	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.97710	-4.5;-4.5	5.19	5.19	0.71726	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.90198	3.095	0.51767	D	0.999931	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99581	1.0973	10	0.87932	D	0	-48.284	14.1999	0.65696	0.0:0.0:1.0:0.0	.	119;119;97	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	S	119;97	ENSP00000342557:R119S;ENSP00000375702:R97S	ENSP00000342557:R119S	R	-	1	0	IL4I1	55090213	1.000000	0.71417	0.988000	0.46212	0.940000	0.58332	4.935000	0.63498	2.426000	0.82243	0.478000	0.44815	CGC	IL4I1	-	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom	ENSG00000104951		0.647	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1		0.00	56	0	G			50398401	-1			no_errors	ENST00000341114	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
INADL	10207	genome.wustl.edu	37	1	62483567	62483567	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:62483567G>T	ENST00000371158.2	+	29	4021	c.3907G>T	c.(3907-3909)Gca>Tca	p.A1303S	INADL_ENST00000543708.1_Missense_Mutation_p.A87S|INADL_ENST00000316485.6_Missense_Mutation_p.A1303S|INADL_ENST00000545929.1_Intron	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1303	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCACCAAAATGCATCTGCCAT	0.353																																																	0													144.0	132.0	136.0					1																	62483567		2203	4300	6503	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3907G>T	1.37:g.62483567G>T	ENSP00000360200:p.Ala1303Ser		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.A1303S	ENST00000371158.2	37	c.3907	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762927	0.89932	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.76428	0.3986	M	0.91196	3.185	0.80722	D	1	P;D;P;P;P	0.52996	0.909;0.957;0.692;0.551;0.631	D;D;D;D;P	0.73708	0.981;0.981;0.922;0.931;0.8	T	0.82277	-0.0537	10	0.87932	D	0	.	18.8103	0.92056	0.0:0.0:1.0:0.0	.	87;762;1303;1303;1303	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	S	1303;1303;1303;1303;87;87	ENSP00000360200:A1303S;ENSP00000326199:A1303S;ENSP00000307496:A87S;ENSP00000445790:A87S	ENSP00000307496:A87S	A	+	1	0	INADL	62256155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.493000	0.90474	2.437000	0.82529	0.591000	0.81541	GCA	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.353	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	-	0.00	41	0	G	NM_170605		62483567	+1	tier1	-	no_errors	ENST00000371158	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
INO80D	54891	genome.wustl.edu	37	2	206921212	206921212	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:206921212G>A	ENST00000403263.1	-	4	1078	c.674C>T	c.(673-675)cCg>cTg	p.P225L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	225					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						TGAACCCTGCGGTGGCGCTGG	0.562																																																	0													70.0	76.0	74.0					2																	206921212		2095	4230	6325	SO:0001583	missense	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.674C>T	2.37:g.206921212G>A	ENSP00000384198:p.Pro225Leu		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.P225L	ENST00000403263.1	37	c.674	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125753	0.56721	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.32272	1.49;1.46	5.84	2.02	0.26589	.	0.433239	0.27841	N	0.017621	T	0.16811	0.0404	N	0.14661	0.345	0.58432	D	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.05257	-1.0896	10	0.72032	D	0.01	.	7.902	0.29740	0.1936:0.1167:0.6897:0.0	.	225	Q53TQ3-2	.	L	225;225;120	ENSP00000384198:P225L;ENSP00000402369:P120L	ENSP00000233270:P225L	P	-	2	0	INO80D	206629457	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	2.524000	0.45589	0.095000	0.17434	0.655000	0.94253	CCG	INO80D	-	NULL	ENSG00000114933		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0.00	26	0	G	NM_017759		206921212	-1			no_errors	ENST00000403263	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A
ITGA8	8516	genome.wustl.edu	37	10	15701026	15701026	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:15701026G>A	ENST00000378076.3	-	10	1273	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	307					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGAATAAACGTCATATCCGT	0.318																																																	0													53.0	56.0	55.0					10																	15701026		2202	4298	6500	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.920C>T	10.37:g.15701026G>A	ENSP00000367316:p.Thr307Met		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T307M	ENST00000378076.3	37	c.920	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379478	0.61845	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.23552	1.9	5.59	4.69	0.59074	.	0.248792	0.45867	N	0.000328	T	0.51143	0.1657	M	0.82193	2.58	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.52638	-0.8549	10	0.36615	T	0.2	.	11.7968	0.52104	0.082:0.0:0.918:0.0	.	292;307	F5H818;P53708	.;ITA8_HUMAN	M	307;292	ENSP00000367316:T307M	ENSP00000367316:T307M	T	-	2	0	ITGA8	15741032	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	5.153000	0.64888	1.377000	0.46286	-0.222000	0.12452	ACG	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1		0.00	40	0	G	NM_003638		15701026	-1			no_errors	ENST00000378076	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A
ITIH3	3699	genome.wustl.edu	37	3	52831209	52831209	+	Silent	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:52831209C>T	ENST00000449956.2	+	5	481	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	ITIH3_ENST00000416872.2_Silent_p.L159L	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	159					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTACGAGGAGCTGCTGAAGAG	0.557																																																	0													46.0	53.0	50.0					3																	52831209		2108	4223	6331	SO:0001819	synonymous_variant	0				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.475C>T	3.37:g.52831209C>T			Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L159	ENST00000449956.2	37	c.475	CCDS46845.1	3																																																																																			ITIH3	-	NULL	ENSG00000162267		0.557	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2		0.00	28	0	C	NM_002217		52831209	+1			no_errors	ENST00000449956	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T
KAT6A	7994	genome.wustl.edu	37	8	41791382	41791382	+	Silent	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr8:41791382C>T	ENST00000396930.3	-	18	4899	c.4356G>A	c.(4354-4356)gcG>gcA	p.A1452A	KAT6A_ENST00000265713.2_Silent_p.A1452A|KAT6A_ENST00000406337.1_Silent_p.A1452A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1452					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1452A(1)									GGGTCTGACACGCCGCAAGAG	0.532																																																	1	Substitution - coding silent(1)	lung(1)											125.0	110.0	115.0					8																	41791382		2203	4300	6503	SO:0001819	synonymous_variant	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4356G>A	8.37:g.41791382C>T			Q76L81	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A1452	ENST00000396930.3	37	c.4356	CCDS6124.1	8																																																																																			KAT6A	-	NULL	ENSG00000083168		0.532	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0.00	13	0	C	NM_006766		41791382	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.023	T
KIAA0907	22889	genome.wustl.edu	37	1	155893472	155893472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:155893472delG	ENST00000368321.3	-	8	923	c.900delC	c.(898-900)cccfs	p.P300fs	SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Frame_Shift_Del_p.P300fs|KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.P300fs|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	300							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTCTGGTTTGGGGTGACTGC	0.373																																																	0													77.0	79.0	79.0					1																	155893472		2203	4300	6503	SO:0001589	frameshift_variant	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.900delC	1.37:g.155893472delG	ENSP00000357304:p.Pro300fs		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	NULL	p.K301fs	ENST00000368321.3	37	c.900	CCDS30885.1	1																																																																																			KIAA0907	-	NULL	ENSG00000132680		0.373	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1		0.00	22	0	G	NM_014949		155893472	-1	tier1		no_errors	ENST00000368321	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-
KIAA1217	56243	genome.wustl.edu	37	10	24784014	24784015	+	Intron	INS	-	-	A	rs570535110|rs398045908|rs533221743|rs78603449|rs546700737|rs550542591|rs71506836	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:24784014_24784015insA	ENST00000376454.3	+	8	1814				KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217						embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAATGGGCTTTAAAAAAAAAAA	0.386																																																	0																																										SO:0001627	intron_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1785-61->A	10.37:g.24784025_24784025dupA			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	RNA	INS	-	NULL	ENST00000376454.3	37	NULL	CCDS31165.1	10																																																																																			KIAA1217	-	-	ENSG00000120549		0.386	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2		0.00	15	0	-	NM_019590		24784015	+1	tier1		no_errors	ENST00000460373	ensembl	human	putative	74_37	rna	12.50	21	3	INS	0.000:0.000	A
KRT16P2	400578	genome.wustl.edu	37	17	16734855	16734855	+	RNA	SNP	C	C	T	rs688852	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:16734855C>T	ENST00000579062.1	-	0	460									keratin 16 pseudogene 2									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632																																																	1	Substitution - Missense(1)	endometrium(1)																																										0					17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16734855C>T				RNA	SNP	-	NULL	ENST00000579062.1	37	NULL		17																																																																																			KRT16P2	-	-	ENSG00000227300		0.632	KRT16P2-002	KNOWN	basic	processed_transcript	KRT16P2	HGNC	pseudogene	OTTHUMT00000444288.2		0.00	29	0	C	NR_029392		16734855	-1			no_errors	ENST00000579062	ensembl	human	known	74_37	rna	13.04	20	3	SNP	0.999	T
KLHL10	317719	genome.wustl.edu	37	17	40004470	40004470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:40004470G>T	ENST00000293303.4	+	5	1891	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	580					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.E580K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CAATGTTGAGGAATATGCAGC	0.463																																																	1	Substitution - Missense(1)	central_nervous_system(1)											129.0	127.0	127.0					17																	40004470		1997	4175	6172	SO:0001587	stop_gained	0			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1738G>T	17.37:g.40004470G>T	ENSP00000293303:p.Glu580*		Q6NW28|Q96MC0	Nonsense_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.E580*	ENST00000293303.4	37	c.1738	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.664428	0.97747	.	.	ENSG00000161594	ENST00000293303	.	.	.	6.17	6.17	0.99709	.	0.170218	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	.	.	.	X	580	.	.	E	+	1	0	KLHL10	37257996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.959000	0.70339	2.941000	0.99782	0.655000	0.94253	GAA	KLHL10	-	NULL	ENSG00000161594		0.463	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	HGNC	protein_coding	OTTHUMT00000326535.1		0.00	20	0	G	NM_152467		40004470	+1			no_errors	ENST00000293303	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	1.000	T
LBH	81606	genome.wustl.edu	37	2	30480657	30480657	+	3'UTR	DEL	T	T	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:30480657delT	ENST00000395323.3	+	0	696				LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ttttcttgccttttttttttt	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.*170T>-	2.37:g.30480657delT			B2RBC2|Q9H0Q1	RNA	DEL	-	NULL	ENST00000395323.3	37	NULL	CCDS33173.1	2																																																																																			LBH	-	-	ENSG00000213626		0.463	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	HGNC	protein_coding	OTTHUMT00000325091.1		0.00	31	0	T	NM_030915		30480657	+1	tier1		no_errors	ENST00000467242	ensembl	human	known	74_37	rna	16.13	26	5	DEL	0.930	-
LMAN1L	79748	genome.wustl.edu	37	15	75113535	75113535	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr15:75113535delC	ENST00000309664.5	+	9	1166	c.1027delC	c.(1027-1029)cccfs	p.P344fs	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.P332fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	344						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGCTGGGGCCCCCAGGCCA	0.652																																																	0													9.0	11.0	10.0					15																	75113535		2086	4132	6218	SO:0001589	frameshift_variant	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1027delC	15.37:g.75113535delC	ENSP00000310431:p.Pro344fs		Q6UWN2	Frame_Shift_Del	DEL	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.P344fs	ENST00000309664.5	37	c.1027	CCDS10270.1	15																																																																																			LMAN1L	-	NULL	ENSG00000140506		0.652	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4		0.00	30	0	C			75113535	+1	tier1		no_errors	ENST00000309664	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.000	-
RNU1-5P	107105261	genome.wustl.edu	37	1	17198882	17198882	+	lincRNA	SNP	C	C	T	rs7367174		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:17198882C>T	ENST00000362684.1	+	0	0																											GGCCTCCGGACTCGTGGCCTC	0.627																																																	0																																												0																															1.37:g.17198882C>T				RNA	SNP	-	NULL	ENST00000362684.1	37	NULL		1																																																																																			U1	-	-	ENSG00000228549		0.627	U1.1-201	KNOWN	basic	snRNA	LOC101927806	RFAM	lincRNA		-	0.00	13	0	C			17198882	+1	tier1	rs7367174	no_errors	ENST00000438002	ensembl	human	known	74_37	rna	30.43	16	7	SNP	0.001	T
LRFN5	145581	genome.wustl.edu	37	14	42360920	42360920	+	Missense_Mutation	SNP	C	C	T	rs143897378		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr14:42360920C>T	ENST00000298119.4	+	4	3042	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	618						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAACTTGTTCGAGTCAGGAC	0.488										HNSCC(30;0.082)																																							0								C	LEU/SER	1,4405	4.2+/-10.8	0,1,2202	144.0	115.0	125.0		1853	3.9	0.8	14	dbSNP_134	125	0,8600		0,0,4300	no	missense	LRFN5	NM_152447.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	618/720	42360920	1,13005	2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1853C>T	14.37:g.42360920C>T	ENSP00000298119:p.Ser618Leu		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S618L	ENST00000298119.4	37	c.1853	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908016	0.33721	2.27E-4	0.0	ENSG00000165379	ENST00000298119	T	0.51817	0.69	5.69	3.88	0.44766	.	0.422418	0.20143	N	0.098334	T	0.27663	0.0680	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05146	-1.0903	10	0.56958	D	0.05	.	10.2036	0.43099	0.0:0.839:0.0:0.161	.	618	Q96NI6	LRFN5_HUMAN	L	618	ENSP00000298119:S618L	ENSP00000298119:S618L	S	+	2	0	LRFN5	41430670	0.999000	0.42202	0.817000	0.32601	0.988000	0.76386	2.840000	0.48215	0.778000	0.33520	-0.145000	0.13849	TCG	LRFN5	-	NULL	ENSG00000165379		0.488	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	49	0	C	NM_152447		42360920	+1	tier1	rs143897378	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
LRRIQ1	84125	genome.wustl.edu	37	12	85521701	85521701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:85521701G>T	ENST00000393217.2	+	18	4160	c.4099G>T	c.(4099-4101)Gaa>Taa	p.E1367*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1367										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGCTGCAACAGAAGGCCTGCC	0.418																																																	0													150.0	150.0	150.0					12																	85521701		1869	4114	5983	SO:0001587	stop_gained	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4099G>T	12.37:g.85521701G>T	ENSP00000376910:p.Glu1367*		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1367*	ENST00000393217.2	37	c.4099	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.471982	0.97594	.	.	ENSG00000133640	ENST00000393217	.	.	.	4.94	0.731	0.18277	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	2.971	0.05923	0.1962:0.2318:0.4538:0.1182	.	.	.	.	X	1367	.	ENSP00000376910:E1367X	E	+	1	0	LRRIQ1	84045832	0.001000	0.12720	0.004000	0.12327	0.018000	0.09664	0.635000	0.24629	0.585000	0.29608	0.591000	0.81541	GAA	LRRIQ1	-	superfamily_P-loop_NTPase	ENSG00000133640		0.418	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0.00	48	0	G	NM_032165		85521701	+1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	0.000	T
MPPED2	744	genome.wustl.edu	37	11	30432675	30432675	+	3'UTR	DEL	T	T	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:30432675delT	ENST00000358117.5	-	0	1347				MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2						nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGTTTCTTATTTTTTTTTCT	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.*340A>-	11.37:g.30432675delT			D3DQZ5|E9PB10|Q59GE6	RNA	DEL	-	NULL	ENST00000358117.5	37	NULL	CCDS7870.1	11																																																																																			MPPED2	-	-	ENSG00000066382		0.279	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2		0.00	41	0	T	NM_001584		30432675	-1	tier1		no_errors	ENST00000524667	ensembl	human	known	74_37	rna	9.80	46	5	DEL	0.007	-
MAML2	84441	genome.wustl.edu	37	11	95825365	95825365	+	Silent	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:95825365C>T	ENST00000524717.1	-	2	3114	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	610					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gttgctgctgctgctgctgtt	0.547			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													35.0	41.0	39.0					11																	95825365		2041	4011	6052	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1830G>A	11.37:g.95825365C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q610	ENST00000524717.1	37	c.1830	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.547	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0.00	23	0	C			95825365	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.000	T
MSANTD1	345222	genome.wustl.edu	37	4	3251103	3251103	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:3251103C>T	ENST00000438480.2	+	1	1901	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	MSANTD1_ENST00000510580.1_Missense_Mutation_p.R52C|MSANTD1_ENST00000507492.1_Missense_Mutation_p.R39C	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	52	Myb-like.									endometrium(1)|lung(2)	3						CGCCGAGATGCGCGGCCTCAT	0.672																																																	0													23.0	24.0	24.0					4																	3251103		2173	4285	6458	SO:0001583	missense	0				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.154C>T	4.37:g.3251103C>T	ENSP00000411584:p.Arg52Cys		C9J6V0	Missense_Mutation	SNP	NULL	p.R52C	ENST00000438480.2	37	c.154	CCDS47003.1	4	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306486	0.81247	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	T;T;T	0.48522	0.81;0.81;0.81	4.68	3.73	0.42828	.	0.066175	0.56097	D	0.000024	T	0.50240	0.1604	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.50759	-0.8790	10	0.46703	T	0.11	.	11.35	0.49583	0.2575:0.7425:0.0:0.0	.	52;52	D6RD98;Q6ZTZ1	.;CD044_HUMAN	C	39;52;52	ENSP00000423547:R39C;ENSP00000411584:R52C;ENSP00000420966:R52C	ENSP00000411584:R52C	R	+	1	0	C4orf44	3220901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.096000	0.64535	2.140000	0.66376	0.591000	0.81541	CGC	MSANTD1	-	NULL	ENSG00000188981		0.672	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	HGNC	protein_coding	OTTHUMT00000370924.1		0.00	35	0	C	NM_001012982		3251103	+1			no_errors	ENST00000438480	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
MTUS1	57509	genome.wustl.edu	37	8	17504627	17504627	+	Intron	DEL	A	A	-	rs565891321|rs538935142	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr8:17504627delA	ENST00000262102.6	-	14	3726				MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000400046.1_Intron|MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000518713.1_5'Flank|MTUS1_ENST00000297488.6_Intron|MTUS1_ENST00000381861.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATACAATATTAAAAAAAAAAC	0.333																																																	0													47.0	45.0	45.0					8																	17504627		1805	4071	5876	SO:0001627	intron_variant	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3502-39T>-	8.37:g.17504627delA			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	RNA	DEL	-	NULL	ENST00000262102.6	37	NULL	CCDS43717.1	8																																																																																			MTUS1	-	-	ENSG00000129422		0.333	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0.00	28	0	A	XM_372031		17504627	-1	tier1		no_errors	ENST00000518889	ensembl	human	putative	74_37	rna	9.38	29	3	DEL	0.000	-
MUC12	10071	genome.wustl.edu	37	7	100636960	100636960	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr7:100636960C>T	ENST00000379442.3	+	5	3545	c.3545C>T	c.(3544-3546)aCt>aTt	p.T1182I	MUC12_ENST00000536621.1_Missense_Mutation_p.T1039I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1182	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AGCTCCACAACTTCGGGCCAC	0.547																																																	0													5.0	7.0	7.0					7																	100636960		382	937	1319	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.3545C>T	7.37:g.100636960C>T	ENSP00000368755:p.Thr1182Ile		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.T1039I	ENST00000379442.3	37	c.3116		7	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.733438	0.00687	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11821	2.74;2.74	0.109	-0.218	0.13142	.	.	.	.	.	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.35176	-0.9799	6	0.36615	T	0.2	.	.	.	.	.	.	.	.	I	1182;1039	ENSP00000368755:T1182I;ENSP00000441929:T1039I	ENSP00000368755:T1182I	T	+	2	0	MUC12	100423680	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	0.319000	0.19522	-1.275000	0.02417	-1.271000	0.01417	ACT	MUC12	-	NULL	ENSG00000205277		0.547	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	-	0.00	14	0	C	XM_379904		100636960	+1	tier1	-	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.024	T
MXRA5	25878	genome.wustl.edu	37	X	3242902	3242902	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:3242902C>A	ENST00000217939.6	-	5	978	c.824G>T	c.(823-825)tGt>tTt	p.C275F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	275	LRRCT.					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)				AGGCTTCAGACAAGTCATGTC	0.473																																																	0													91.0	85.0	87.0					X																	3242902		2203	4300	6503	SO:0001583	missense	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.824G>T	X.37:g.3242902C>A	ENSP00000217939:p.Cys275Phe		Q6P1M7|Q9Y3Y8	Missense_Mutation	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.C275F	ENST00000217939.6	37	c.824	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729594	0.30684	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.83163	-1.69	3.41	3.41	0.39046	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41823	U	0.000804	D	0.93090	0.7800	H	0.94582	3.555	0.41463	D	0.98805	D	0.89917	1.0	D	0.83275	0.996	D	0.95147	0.8269	10	0.87932	D	0	.	14.6991	0.69145	0.0:1.0:0.0:0.0	.	275	Q9NR99	MXRA5_HUMAN	F	275	ENSP00000217939:C275F	ENSP00000217939:C275F	C	-	2	0	MXRA5	3252902	1.000000	0.71417	0.004000	0.12327	0.150000	0.21749	6.326000	0.72905	1.331000	0.45412	0.425000	0.28330	TGT	MXRA5	-	smart_Cys-rich_flank_reg_C	ENSG00000101825		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0.00	46	0	C	NM_015419		3242902	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.912	A
MYO18B	84700	genome.wustl.edu	37	22	26422418	26422418	+	Missense_Mutation	SNP	G	G	A	rs371851187		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr22:26422418G>A	ENST00000407587.2	+	43	6650	c.6481G>A	c.(6481-6483)Gaa>Aaa	p.E2161K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2160K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2160K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2160						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						CAGGATAAACGAAGAGGCTGG	0.502																																																	0								G	LYS/GLU	0,3768		0,0,1884	120.0	130.0	127.0		6478	-0.6	0.0	22		127	1,8231		0,1,4115	no	missense	MYO18B	NM_032608.5	56	0,1,5999	AA,AG,GG		0.0121,0.0,0.0083	benign	2160/2568	26422418	1,11999	1884	4116	6000	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.6481G>A	22.37:g.26422418G>A	ENSP00000386096:p.Glu2161Lys		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E2160K	ENST00000407587.2	37	c.6478		22	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738225	0.30774	0.0	1.21E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86164	-2.06;-2.06;-2.08	5.48	-0.547	0.11836	.	0.628019	0.12375	N	0.474435	T	0.79753	0.4500	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.17465	0.0;0.001;0.013;0.002;0.022	B;B;B;B;B	0.12837	0.001;0.001;0.003;0.002;0.008	T	0.67511	-0.5652	10	0.48119	T	0.1	.	4.2938	0.10892	0.3868:0.1806:0.4326:0.0	.	1673;2162;2160;2161;2160	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	K	2160;2160;2161	ENSP00000441229:E2160K;ENSP00000334563:E2160K;ENSP00000386096:E2161K	ENSP00000334563:E2160K	E	+	1	0	MYO18B	24752418	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.482000	0.06544	0.294000	0.22547	0.591000	0.81541	GAA	MYO18B	-	NULL	ENSG00000133454		0.502	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	26	0	G	NM_032608		26422418	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	A
NAV2	89797	genome.wustl.edu	37	11	19901631	19901631	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:19901631C>T	ENST00000396087.3	+	5	827	c.728C>T	c.(727-729)gCg>gTg	p.A243V	NAV2_ENST00000360655.4_Missense_Mutation_p.A179V|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_Missense_Mutation_p.A172V|NAV2_ENST00000396085.1_Missense_Mutation_p.A243V|NAV2_ENST00000540292.1_Missense_Mutation_p.A174V|NAV2_ENST00000349880.4_Missense_Mutation_p.A243V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	243	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCAGCCAGCGCCACATCAG	0.632																																																	0													34.0	32.0	33.0					11																	19901631		2198	4293	6491	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.728C>T	11.37:g.19901631C>T	ENSP00000379396:p.Ala243Val		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.A243V	ENST00000396087.3	37	c.728	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971417	0.53614	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.29142	1.62;1.72;1.72;1.68;1.58;1.58	5.73	4.81	0.61882	.	0.230271	0.30437	N	0.009621	T	0.18215	0.0437	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.001;0.004	T	0.04840	-1.0923	9	.	.	.	.	14.8486	0.70277	0.0:0.9293:0.0:0.0707	.	243;179	Q8IVL1-3;Q8IVL1-4	.;.	V	179;243;243;243;172;174	ENSP00000353871:A179V;ENSP00000379394:A243V;ENSP00000309577:A243V;ENSP00000379396:A243V;ENSP00000435395:A172V;ENSP00000443489:A174V	.	A	+	2	0	NAV2	19858207	0.804000	0.28969	0.989000	0.46669	0.906000	0.53458	1.543000	0.36147	1.398000	0.46701	0.561000	0.74099	GCG	NAV2	-	NULL	ENSG00000166833		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0.00	49	0	C	NM_145117		19901631	+1			no_errors	ENST00000396087	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.997	T
NCAPD2	9918	genome.wustl.edu	37	12	6635718	6635718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:6635718C>T	ENST00000315579.5	+	21	3470	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.Q846*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	891					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						CCAGATATTGCAGGGCTGTGC	0.577																																																	0													55.0	58.0	57.0					12																	6635718		2203	4300	6503	SO:0001587	stop_gained	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.2671C>T	12.37:g.6635718C>T	ENSP00000325017:p.Gln891*		D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.Q891*	ENST00000315579.5	37	c.2671	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.534870	0.97646	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	.	.	.	4.97	4.97	0.65823	.	0.120180	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3878	18.4103	0.90549	0.0:1.0:0.0:0.0	.	.	.	.	X	891;763;846;763	.	ENSP00000325017:Q891X	Q	+	1	0	NCAPD2	6505979	1.000000	0.71417	0.358000	0.25811	0.202000	0.24057	4.576000	0.60915	2.572000	0.86782	0.655000	0.94253	CAG	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.577	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0.00	66	0	C	NM_014865		6635718	+1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	0.996	T
NCAPG	64151	genome.wustl.edu	37	4	17819058	17819058	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:17819058G>T	ENST00000251496.2	+	6	1126	c.950G>T	c.(949-951)tGt>tTt	p.C317F		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	317					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GTGGGACTCTGTAAAAACAAT	0.373																																																	0													90.0	90.0	90.0					4																	17819058		2203	4300	6503	SO:0001583	missense	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.950G>T	4.37:g.17819058G>T	ENSP00000251496:p.Cys317Phe		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C317F	ENST00000251496.2	37	c.950	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386139	0.04966	.	.	ENSG00000109805	ENST00000251496	T	0.30182	1.54	5.74	4.84	0.62591	Armadillo-type fold (1);	0.246337	0.51477	D	0.000097	T	0.20901	0.0503	L	0.31065	0.9	0.48040	D	0.99957	B	0.12013	0.005	B	0.06405	0.002	T	0.04347	-1.0958	10	0.08837	T	0.75	-11.1542	14.225	0.65853	0.0:0.0:0.7465:0.2535	.	317	Q9BPX3	CND3_HUMAN	F	317	ENSP00000251496:C317F	ENSP00000251496:C317F	C	+	2	0	NCAPG	17428156	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	2.659000	0.46741	2.708000	0.92522	0.650000	0.86243	TGT	NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.373	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	-	0.00	54	0	G	NM_022346		17819058	+1	tier1	-	no_errors	ENST00000251496	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
NGDN	25983	genome.wustl.edu	37	14	23945466	23945466	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr14:23945466G>T	ENST00000408901.3	+	8	591	c.563G>T	c.(562-564)cGg>cTg	p.R188L	NGDN_ENST00000556580.1_5'UTR|NGDN_ENST00000397154.3_Missense_Mutation_p.R188L	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	188					regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R188P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAGCTGAGCGGGAGAAGAAG	0.468																																																	2	Substitution - Missense(2)	lung(2)											69.0	72.0	71.0					14																	23945466		2203	4300	6503	SO:0001583	missense	0			AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.563G>T	14.37:g.23945466G>T	ENSP00000386134:p.Arg188Leu		A8K760|Q9Y400	Missense_Mutation	SNP	pfam_Sas10/Utp3/C1D	p.R188L	ENST00000408901.3	37	c.563	CCDS41926.1	14	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716557	0.89205	.	.	ENSG00000129460	ENST00000408901;ENST00000397154	T;T	0.34667	1.36;1.35	5.89	5.89	0.94794	.	0.052250	0.85682	D	0.000000	T	0.57681	0.2070	M	0.74881	2.28	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.58660	0.843;0.701	T	0.53279	-0.8461	10	0.38643	T	0.18	-2.0535	19.0276	0.92939	0.0:0.0:1.0:0.0	.	188;188	Q8NEJ9-2;Q8NEJ9	.;NGDN_HUMAN	L	188	ENSP00000386134:R188L;ENSP00000380340:R188L	ENSP00000380340:R188L	R	+	2	0	NGDN	23015306	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.447000	0.35101	2.797000	0.96272	0.563000	0.77884	CGG	NGDN	-	NULL	ENSG00000129460		0.468	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NGDN	HGNC	protein_coding	OTTHUMT00000413782.3		0.00	20	0	G	NM_001042635		23945466	+1			no_errors	ENST00000408901	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
NRXN2	9379	genome.wustl.edu	37	11	64427860	64427860	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:64427860G>A	ENST00000377551.1	-	10	2544	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.A771V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A778V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A747V|NRXN2_ENST00000496291.1_5'Flank			Q9P2S2	NRX2A_HUMAN	neurexin 2	778	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A778V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TAGGGTGTCGGCAGACTCCCT	0.622																																																	1	Substitution - Missense(1)	breast(1)											158.0	128.0	138.0					11																	64427860		2201	4297	6498	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2333C>T	11.37:g.64427860G>A	ENSP00000366774:p.Ala778Val		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A778V	ENST00000377551.1	37	c.2333	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.146976	0.94603	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.28	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.38959	U	0.001505	D	0.87958	0.6309	M	0.83692	2.655	0.58432	D	0.999999	D;P;D	0.76494	0.992;0.883;0.999	P;P;D	0.87578	0.829;0.688;0.998	D	0.89021	0.3435	10	0.52906	T	0.07	.	14.2418	0.65961	0.0:0.0:1.0:0.0	.	747;778;524	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	778;747;778;747;771	ENSP00000366774:A778V;ENSP00000366782:A747V;ENSP00000265459:A778V;ENSP00000386416:A771V	ENSP00000265459:A778V	A	-	2	0	NRXN2	64184436	1.000000	0.71417	0.947000	0.38551	0.982000	0.71751	7.794000	0.85869	2.216000	0.71823	0.655000	0.94253	GCC	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3		0.00	39	0	G	NM_015080		64427860	-1			no_errors	ENST00000265459	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	A
NSL1	25936	genome.wustl.edu	37	1	212955391	212955391	+	Intron	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:212955391C>T	ENST00000366977.3	-	4	518				NSL1_ENST00000366978.1_Intron|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Intron|NSL1_ENST00000366975.6_Intron|NSL1_ENST00000366976.1_Intron	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		ATAGCTTTGGCTGTAATGCAA	0.338																																																	0													49.0	47.0	47.0					1																	212955391		876	1991	2867	SO:0001627	intron_variant	0			AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.499+322G>A	1.37:g.212955391C>T			E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	RNA	SNP	-	NULL	ENST00000366977.3	37	NULL	CCDS1509.1	1																																																																																			NSL1	-	-	ENSG00000117697		0.338	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSL1	HGNC	protein_coding	OTTHUMT00000089398.2	-	0.00	53	0	C	NM_015471		212955391	-1	tier1	-	no_errors	ENST00000473995	ensembl	human	known	74_37	rna	5.88	64	4	SNP	0.074	T
PDE4D	5144	genome.wustl.edu	37	5	58270835	58270835	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:58270835C>A	ENST00000340635.6	-	15	2261	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	PDE4D_ENST00000317118.8_Missense_Mutation_p.D405Y|PDE4D_ENST00000358923.6_Missense_Mutation_p.D394Y|PDE4D_ENST00000502484.2_Missense_Mutation_p.D635Y|PDE4D_ENST00000360047.5_Missense_Mutation_p.D560Y|PDE4D_ENST00000546160.1_Missense_Mutation_p.D635Y|PDE4D_ENST00000503258.1_Missense_Mutation_p.D566Y|PDE4D_ENST00000507116.1_Missense_Mutation_p.D632Y|PDE4D_ENST00000405755.2_Missense_Mutation_p.D574Y	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	696					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCCAAAATATCCTGGGCGTCA	0.527																																																	0													52.0	54.0	53.0					5																	58270835		2028	4202	6230	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2086G>T	5.37:g.58270835C>A	ENSP00000345502:p.Asp696Tyr		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.D696Y	ENST00000340635.6	37	c.2086	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499079	0.64298	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.08	5.08	0.68730	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.093817	0.64402	D	0.000001	D	0.82609	0.5074	L	0.31664	0.95	0.80722	D	1	D;D;P;P;P;P;B;B	0.56746	0.972;0.977;0.919;0.882;0.882;0.919;0.083;0.058	P;P;P;P;P;P;B;B	0.58077	0.563;0.767;0.466;0.832;0.832;0.563;0.025;0.04	D	0.84451	0.0588	10	0.62326	D	0.03	.	18.6453	0.91408	0.0:1.0:0.0:0.0	.	635;696;632;559;574;566;471;405	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	Y	696;565;560;632;394;405;566;574;635;635;394	ENSP00000345502:D696Y;ENSP00000353152:D560Y;ENSP00000424852:D632Y;ENSP00000351800:D394Y;ENSP00000321739:D405Y;ENSP00000425605:D566Y;ENSP00000384806:D574Y;ENSP00000423094:D635Y;ENSP00000442734:D635Y;ENSP00000421013:D394Y	ENSP00000321739:D405Y	D	-	1	0	PDE4D	58306592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.641000	0.89580	0.655000	0.94253	GAT	PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.527	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0.00	52	0	C			58270835	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
PCDHA6	56142	genome.wustl.edu	37	5	140208211	140208211	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:140208211G>T	ENST00000529310.1	+	1	649	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G179W|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAATACTTCGGGCTAGATGT	0.428																																																	0													68.0	73.0	72.0					5																	140208211		2203	4300	6503	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.535G>T	5.37:g.140208211G>T	ENSP00000433378:p.Gly179Trp		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G179W	ENST00000529310.1	37	c.535	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	8.735	0.917592	0.17982	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.55234	0.53;0.53	3.87	-1.09	0.09904	Cadherin (4);Cadherin-like (1);	6.091010	0.01315	U	0.010758	T	0.66297	0.2775	M	0.62209	1.925	0.09310	N	1	D;P;P	0.54397	0.966;0.933;0.801	P;D;P	0.64144	0.873;0.922;0.775	T	0.51442	-0.8705	10	0.66056	D	0.02	.	5.9284	0.19124	0.5521:0.0:0.3147:0.1332	.	179;179;179	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	W	179	ENSP00000433378:G179W;ENSP00000434113:G179W	ENSP00000434113:G179W	G	+	1	0	PCDHA6	140188395	0.000000	0.05858	0.000000	0.03702	0.525000	0.34531	-4.241000	0.00268	-0.143000	0.11334	0.313000	0.20887	GGG	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081842		0.428	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3		0.00	32	0	G	NM_018909		140208211	+1			no_errors	ENST00000529310	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T
PDE6B	5158	genome.wustl.edu	37	4	619586	619586	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:619586G>T	ENST00000496514.1	+	1	192	c.171G>T	c.(169-171)acG>acT	p.T57T	PDE6B_ENST00000255622.6_Silent_p.T57T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	57					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)	AGGAGAGCACGGCGCTGCTGG	0.672																																					GBM(71;463 1194 9848 25922 46834)												0													33.0	34.0	34.0					4																	619586		2203	4300	6503	SO:0001819	synonymous_variant	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.171G>T	4.37:g.619586G>T			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.T57	ENST00000496514.1	37	c.171	CCDS33932.1	4																																																																																			PDE6B	-	NULL	ENSG00000133256		0.672	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	-	0.00	43	0	G	NM_000283		619586	+1	tier1	-	no_errors	ENST00000496514	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.005	T
PHC1	1911	genome.wustl.edu	37	12	9073601	9073601	+	Silent	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:9073601G>A	ENST00000543824.1	+	5	578	c.246G>A	c.(244-246)cgG>cgA	p.R82R	PHC1_ENST00000544916.1_Silent_p.R82R|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Silent_p.R45R|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	82					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	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)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CTGCCAGTCGGCAGGCCAGCT	0.517																																																	0													88.0	87.0	87.0					12																	9073601		2203	4300	6503	SO:0001819	synonymous_variant	0			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.246G>A	12.37:g.9073601G>A			D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R82	ENST00000543824.1	37	c.246	CCDS8597.1	12																																																																																			PHC1	-	NULL	ENSG00000111752		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1		0.00	42	0	G	NM_004426		9073601	+1			no_errors	ENST00000543824	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.525	A
PIK3CA	5290	genome.wustl.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	40	Substitution - Missense(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)											85.0	80.0	82.0					3																	178927980		1822	4078	5900	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.C420R	ENST00000263967.3	37	c.1258	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0.00	14	0	T			178927980	+1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C
PLBD1	79887	genome.wustl.edu	37	12	14656853	14656853	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:14656853G>T	ENST00000240617.5	-	11	2167	c.1515C>A	c.(1513-1515)tcC>tcA	p.S505S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	505					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTATGGCATAGGATGTGTACT	0.463																																																	0													124.0	109.0	114.0					12																	14656853		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1515C>A	12.37:g.14656853G>T			A8K4E9|Q9BVV3|Q9H625	Silent	SNP	pfam_PLipase_B-like	p.S505	ENST00000240617.5	37	c.1515	CCDS31751.1	12																																																																																			PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.463	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	-	0.00	74	0	G	NM_024829		14656853	-1	tier1	-	no_errors	ENST00000240617	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.994	T
POLR2K	5440	genome.wustl.edu	37	8	101164033	101164033	+	Intron	DEL	T	T	-	rs200886893|rs527681074		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr8:101164033delT	ENST00000353107.3	+	3	196				POLR2K_ENST00000519765.1_3'UTR|POLR2K_ENST00000522439.1_Intron	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|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 II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ATTGAGTAAATTTTTTTTTTT	0.289																																																	0										32,96,4130		0,0,32,6,84,2007	31.0	33.0	32.0			-0.3	0.0	8		33	44,146,8034		0,1,43,6,133,3929	no	intron	POLR2K	NM_005034.3		0,1,75,12,217,5936	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3103,3.0061,2.5477			101164033	76,242,12164	2201	4289	6490	SO:0001627	intron_variant	0				CCDS6285.1	8q22	2013-01-21	2002-08-29		ENSG00000147669	ENSG00000147669		"""RNA polymerase subunits"""	9198	protein-coding gene	gene with protein product		606033	"""polymerase (RNA) II (DNA directed) polypeptide K (7.0kD)"""				Standard	NM_005034		Approved	RPB10alpha	uc003yjf.3	P53803	OTTHUMG00000164705	ENST00000353107.3:c.62-19T>-	8.37:g.101164033delT			Q6IBD4	RNA	DEL	-	NULL	ENST00000353107.3	37	NULL	CCDS6285.1	8																																																																																			POLR2K	-	-	ENSG00000147669		0.289	POLR2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2K	HGNC	protein_coding	OTTHUMT00000379849.1		0.00	50	0	T	NM_005034		101164033	+1	tier1		no_errors	ENST00000519765	ensembl	human	known	74_37	rna	12.73	48	7	DEL	0.004	-
PP2D1	151649	genome.wustl.edu	37	3	20042563	20042563	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:20042563A>G	ENST00000389050.4	-	2	1306	c.1049T>C	c.(1048-1050)aTg>aCg	p.M350T		NM_001252657.1	NP_001239586.1	A8MPX8	PP2D1_HUMAN	protein phosphatase 2C-like domain containing 1	350	PP2C-like.						catalytic activity (GO:0003824)										TATTTTTGGCATCTCCTGGGA	0.373																																																	0																																										SO:0001583	missense	0			AK058178	CCDS58817.1	3p24.3	2011-06-24	2011-06-24	2011-06-24	ENSG00000183977	ENSG00000183977			28406	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 48"""	C3orf48		12477932	Standard	NR_027694		Approved	FLJ25449	uc021wtw.1	A8MPX8	OTTHUMG00000155393	ENST00000389050.4:c.1049T>C	3.37:g.20042563A>G	ENSP00000373702:p.Met350Thr		Q96LI7	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.M350T	ENST00000389050.4	37	c.1049	CCDS58817.1	3	.	.	.	.	.	.	.	.	.	.	A	4.830	0.154384	0.09236	.	.	ENSG00000183977	ENST00000389050	T	0.16324	2.35	5.61	-6.44	0.01920	.	0.887953	0.09759	N	0.759553	T	0.04048	0.0113	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40942	-0.9536	9	0.06365	T	0.9	-2.9765	1.9887	0.03442	0.3205:0.0972:0.3547:0.2276	.	350	A8MPX8-2	.	T	350	ENSP00000373702:M350T	ENSP00000331295:M350T	M	-	2	0	PP2D1	20017567	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.056000	0.14256	-0.501000	0.06605	0.482000	0.46254	ATG	PP2D1	-	superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000183977		0.373	PP2D1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PP2D1	HGNC	protein_coding	OTTHUMT00000339833.1	-	0.00	51	0	A	NM_144714		20042563	-1	tier1	-	no_errors	ENST00000389050	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	G
PPAP2B	8613	genome.wustl.edu	37	1	56962088	56962089	+	3'UTR	INS	-	-	T	rs149661789		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:56962088_56962089insT	ENST00000371250.3	-	0	1621_1622				PPAP2B_ENST00000459962.1_5'Flank	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B						Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATAGTAAAACATTTTTTTTTTC	0.396																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.*135->A	1.37:g.56962098_56962098dupT			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	RNA	INS	-	NULL	ENST00000371250.3	37	NULL	CCDS604.1	1																																																																																			PPAP2B	-	-	ENSG00000162407		0.396	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2		0.00	19	0	-	NM_003713		56962089	-1	tier1		no_errors	ENST00000472957	ensembl	human	known	74_37	rna	18.75	13	3	INS	0.354:0.869	T
RASSF5	83593	genome.wustl.edu	37	1	206758622	206758622	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:206758622G>T	ENST00000355294.4	+	5	1156	c.1099G>T	c.(1099-1101)Gta>Tta	p.V367L	RASSF5_ENST00000304534.8_Missense_Mutation_p.V214L|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_Intron|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	367	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AACTGGAGAGGTAGAGGTAGG	0.577																																					GBM(162;656 1984 11916 22872 31529)												0													133.0	132.0	132.0					1																	206758622		2203	4300	6503	SO:0001583	missense	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1099G>T	1.37:g.206758622G>T	ENSP00000347443:p.Val367Leu		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V367L	ENST00000355294.4	37	c.1099	CCDS30998.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.605198	0.96626	.	.	ENSG00000136653	ENST00000355294;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T	0.21361	2.63;2.01;2.39	6.02	6.02	0.97574	SARAH (1);	0.112100	0.64402	D	0.000010	T	0.49150	0.1540	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.974	P;D;P	0.80764	0.841;0.994;0.757	T	0.40001	-0.9586	10	0.72032	D	0.01	-5.7032	19.5289	0.95219	0.0:0.0:1.0:0.0	.	365;214;367	E9PDW5;Q8WWW0-2;Q8WWW0	.;.;RASF5_HUMAN	L	367;367;367;214	ENSP00000347443:V367L;ENSP00000342620:V367L;ENSP00000306091:V214L	ENSP00000306091:V214L	V	+	1	0	RASSF5	204825245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GTA	RASSF5	-	pfscan_SARAH_dom	ENSG00000136653		0.577	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	-	0.00	36	0	G	NM_031437		206758622	+1	tier1	-	no_errors	ENST00000355294	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
LOC101928747	101928747	genome.wustl.edu	37	X	135930219	135930219	+	lincRNA	DEL	T	T	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:135930219delT	ENST00000435597.1	-	0	0																											GTGTTGATAGTTTTGGCTGCC	0.433																																																	0																																												0																															X.37:g.135930219delT				RNA	DEL	-	NULL	ENST00000435597.1	37	NULL		X																																																																																			RBMX	-	-	ENSG00000147274		0.433	RP11-1114A5.4-001	KNOWN	basic	lincRNA	RBMX	HGNC	lincRNA	OTTHUMT00000058505.2		0.00	21	0	T			135930219	-1	tier1		no_errors	ENST00000561733	ensembl	human	known	74_37	rna	12.50	14	2	DEL	0.000	-
RGS19	10287	genome.wustl.edu	37	20	62708299	62708299	+	5'UTR	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr20:62708299C>T	ENST00000395042.1	-	0	207				RGS19_ENST00000332298.5_5'UTR|RGS19_ENST00000493165.1_5'UTR	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19						autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTCACCACAGCCTGGGGGTCT	0.647																																																	0													16.0	22.0	20.0					20																	62708299		692	1590	2282	SO:0001623	5_prime_UTR_variant	0			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.-60G>A	20.37:g.62708299C>T			A8K216|E1P5G9|Q53XN0|Q8TD60	RNA	SNP	-	NULL	ENST00000395042.1	37	NULL	CCDS13555.1	20																																																																																			RGS19	-	-	ENSG00000171700		0.647	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	-	0.00	60	0	C	NM_005873		62708299	-1	tier1	-	no_errors	ENST00000493165	ensembl	human	known	74_37	rna	5.88	64	4	SNP	0.951	T
RNF213	57674	genome.wustl.edu	37	17	78320934	78320934	+	Silent	SNP	G	G	T	rs141391616	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:78320934G>T	ENST00000582970.1	+	29	8942	c.8799G>T	c.(8797-8799)gcG>gcT	p.A2933A	RNF213_ENST00000508628.2_Silent_p.A2982A|RNF213_ENST00000336301.6_Silent_p.A1006A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2933					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1006A(1)|p.A2982A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTACTTTGCGTCCTTTGCCA	0.547																																																	2	Substitution - coding silent(2)	prostate(2)											58.0	48.0	51.0					17																	78320934		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8799G>T	17.37:g.78320934G>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.A2933	ENST00000582970.1	37	c.8799	CCDS58606.1	17																																																																																			RNF213	-	superfamily_P-loop_NTPase	ENSG00000173821		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0.00	43	0	G	NM_020914		78320934	+1			no_errors	ENST00000582970	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T
SEMA3G	56920	genome.wustl.edu	37	3	52474957	52474957	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:52474957G>T	ENST00000231721.2	-	8	920	c.921C>A	c.(919-921)gaC>gaA	p.D307E		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	307	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACCTAGCTGGTCAAAGTGGG	0.652																																																	0													31.0	32.0	31.0					3																	52474957		2203	4300	6503	SO:0001583	missense	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.921C>A	3.37:g.52474957G>T	ENSP00000231721:p.Asp307Glu		Q7L9D9|Q9H7Q3	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,pfscan_Ig-like_dom	p.D307E	ENST00000231721.2	37	c.921	CCDS2856.1	3	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768625	0.69878	.	.	ENSG00000010319	ENST00000231721	T	0.11821	2.74	4.34	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.111882	0.64402	D	0.000010	T	0.25457	0.0619	M	0.74546	2.27	0.36196	D	0.850375	P	0.37083	0.581	P	0.50791	0.65	T	0.15521	-1.0434	10	0.51188	T	0.08	.	5.1127	0.14817	0.3684:0.0:0.6316:0.0	.	307	Q9NS98	SEM3G_HUMAN	E	307	ENSP00000231721:D307E	ENSP00000231721:D307E	D	-	3	2	SEMA3G	52449997	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	0.941000	0.29005	1.075000	0.40932	0.561000	0.74099	GAC	SEMA3G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000010319		0.652	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1		0.00	22	0	G	NM_020163		52474957	-1			no_errors	ENST00000231721	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T
RPN1	6184	genome.wustl.edu	37	3	128345612	128345612	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:128345612G>T	ENST00000296255.3	-	6	1148	c.1100C>A	c.(1099-1101)tCt>tAt	p.S367Y	RPN1_ENST00000497289.1_Missense_Mutation_p.S195Y|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	367					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CACAGTCAGAGAATCTATCAC	0.458			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													236.0	180.0	199.0					3																	128345612		2203	4300	6503	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1100C>A	3.37:g.128345612G>T	ENSP00000296255:p.Ser367Tyr		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.S367Y	ENST00000296255.3	37	c.1100	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339264	0.60963	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.28	5.28	0.74379	.	0.427305	0.28671	N	0.014535	T	0.74183	0.3683	M	0.66939	2.045	0.40361	D	0.979247	B	0.31153	0.31	B	0.41917	0.37	T	0.76454	-0.2953	9	0.72032	D	0.01	-12.4209	18.9114	0.92487	0.0:0.0:1.0:0.0	.	367	P04843	RPN1_HUMAN	Y	367;195;138;341	.	ENSP00000296255:S367Y	S	-	2	0	RPN1	129828302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.370000	0.59517	2.448000	0.82819	0.591000	0.81541	TCT	RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.458	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	-	0.00	63	0	G	NM_002950		128345612	-1	tier1	-	no_errors	ENST00000296255	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
SIMC1	375484	genome.wustl.edu	37	5	175717627	175717627	+	Missense_Mutation	SNP	C	C	T	rs151017862	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:175717627C>T	ENST00000443967.1	+	4	1450	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	SIMC1_ENST00000429602.2_Missense_Mutation_p.P367L|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	348	Pro-rich.						SUMO polymer binding (GO:0032184)										CCTCACTTACCAGGAGACAGG	0.532																																																	0													285.0	278.0	280.0					5																	175717627		2203	4300	6503	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1043C>T	5.37:g.175717627C>T	ENSP00000406571:p.Pro348Leu		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.P348L	ENST00000443967.1	37	c.1043		5	.	.	.	.	.	.	.	.	.	.	C	9.554	1.116768	0.20795	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.33654	2.16;1.4	3.8	3.8	0.43715	.	0.628470	0.14812	N	0.296964	T	0.37598	0.1009	.	.	.	0.09310	N	1	P;P	0.51351	0.944;0.939	P;P	0.47044	0.461;0.535	T	0.16867	-1.0388	9	0.49607	T	0.09	-8.6317	11.3891	0.49804	0.0:1.0:0.0:0.0	.	367;348	B4DRM7;Q8NDZ2	.;CE025_HUMAN	L	348;367;259	ENSP00000406571:P348L;ENSP00000410552:P367L	ENSP00000366489:P259L	P	+	2	0	C5orf25	175650233	0.001000	0.12720	0.004000	0.12327	0.020000	0.10135	0.748000	0.26305	2.116000	0.64780	0.603000	0.83216	CCA	SIMC1	-	NULL	ENSG00000170085		0.532	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2	-	0.00	41	0	C	NM_198567		175717627	+1	tier1	rs151017862	no_errors	ENST00000443967	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.007	T
SLC6A4	6532	genome.wustl.edu	37	17	28545833	28545833	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:28545833delT	ENST00000401766.2	-	3	972	c.460delA	c.(460-462)atcfs	p.I154fs	SLC6A4_ENST00000261707.3_Frame_Shift_Del_p.I154fs			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	154					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATCGGGCAGATTTTCCTCCAT	0.522																																																	0													122.0	125.0	124.0					17																	28545833		2203	4300	6503	SO:0001589	frameshift_variant	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.460delA	17.37:g.28545833delT	ENSP00000385822:p.Ile154fs		Q5EE02	Frame_Shift_Del	DEL	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.I154fs	ENST00000401766.2	37	c.460	CCDS11256.1	17																																																																																			SLC6A4	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000108576		0.522	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3		0.00	36	0	T	NM_001045		28545833	-1	tier1		no_errors	ENST00000261707	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-
SLIT1	6585	genome.wustl.edu	37	10	98806436	98806436	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:98806436G>T	ENST00000266058.4	-	18	2073	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	SLIT1_ENST00000371070.4_Silent_p.R610R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	610					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAGACCCCGGAACATGCCG	0.622																																																	0													47.0	38.0	41.0					10																	98806436		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1828C>A	10.37:g.98806436G>T			Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,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_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R610	ENST00000266058.4	37	c.1828	CCDS7453.1	10																																																																																			SLIT1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000187122		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0.00	37	0	G	NM_003061		98806436	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T
SPNS3	201305	genome.wustl.edu	37	17	4349367	4349367	+	Silent	SNP	C	C	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:4349367C>A	ENST00000355530.2	+	4	707	c.427C>A	c.(427-429)Cgg>Agg	p.R143R	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.R16R	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	143					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTTCCTGTCCCGGGGCATCGT	0.647																																																	0													77.0	71.0	73.0					17																	4349367		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.427C>A	17.37:g.4349367C>A			Q8IZ31	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.P97Q	ENST00000355530.2	37	c.290	CCDS11045.1	17																																																																																			SPNS3	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000182557		0.647	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	-	0.00	31	0	C	NM_182538		4349367	+1	tier1	-	no_errors	ENST00000575194	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131394492	131394492	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr9:131394492G>T	ENST00000372731.4	+	52	6944	c.6834G>T	c.(6832-6834)ctG>ctT	p.L2278L	WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000372739.3_Silent_p.L2283L|SPTAN1_ENST00000358161.5_Silent_p.L2283L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2278					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCTCATCCTGGACAACAAGT	0.632																																					NSCLC(120;833 1744 2558 35612 37579)												0													36.0	35.0	35.0					9																	131394492		2203	4300	6503	SO:0001819	synonymous_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6834G>T	9.37:g.131394492G>T			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.L2283	ENST00000372731.4	37	c.6849	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.632	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0.00	52	0	G	NM_003127		131394492	+1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T
STXBP4	252983	genome.wustl.edu	37	17	53150373	53150373	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:53150373G>A	ENST00000376352.2	+	13	1331	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R353H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	375					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R375H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GAAGTGATCCGTCTGTTAGAG	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											133.0	122.0	125.0					17																	53150373		2203	4300	6503	SO:0001583	missense	0			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1124G>A	17.37:g.53150373G>A	ENSP00000365530:p.Arg375His		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom	p.R375H	ENST00000376352.2	37	c.1124	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	12.26	1.886064	0.33348	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.50277	0.75;0.75	5.57	3.57	0.40892	.	0.164927	0.56097	N	0.000040	T	0.27594	0.0678	N	0.12961	0.28	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.06180	-1.0841	10	0.14656	T	0.56	-1.1044	11.521	0.50551	0.1473:0.0:0.8527:0.0	.	353;375	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	H	375;353	ENSP00000365530:R375H;ENSP00000391087:R353H	ENSP00000365530:R375H	R	+	2	0	STXBP4	50505372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.372000	0.34261	1.336000	0.45506	0.650000	0.86243	CGT	STXBP4	-	NULL	ENSG00000166263		0.443	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1		0.00	48	0	G	NM_178509		53150373	+1			no_errors	ENST00000376352	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A
SULT1C2	6819	genome.wustl.edu	37	2	108910750	108910750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:108910750C>T	ENST00000437390.2	+	3	394	c.217C>T	c.(217-219)Cga>Tga	p.R73*	SULT1C2_ENST00000409880.1_Nonsense_Mutation_p.R73*|SULT1C2_ENST00000251481.6_Nonsense_Mutation_p.R73*|SULT1C2_ENST00000326853.5_Nonsense_Mutation_p.R73*			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	79					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGTGCCAGCGAGCCATCAT	0.512																																																	0													179.0	167.0	171.0					2																	108910750		2203	4300	6503	SO:0001587	stop_gained	0			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.217C>T	2.37:g.108910750C>T	ENSP00000399651:p.Arg73*		Q069I8|Q08AS5|Q53S63	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R73*	ENST00000437390.2	37	c.217		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.239822|4.239822	0.79912|0.79912	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000409067|ENST00000251481;ENST00000326853;ENST00000438339;ENST00000409880;ENST00000437390	.|.	.|.	.|.	4.97|4.97	4.08|4.08	0.47627|0.47627	.|.	.|0.098704	.|0.41712	.|D	.|0.000823	T|.	0.26412|.	0.0645|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29549|.	-1.0008|.	3|.	.|0.02654	.|T	.|1	.|.	11.5719|11.5719	0.50839|0.50839	0.3238:0.6762:0.0:0.0|0.3238:0.6762:0.0:0.0	.|.	.|.	.|.	.|.	V|X	69|73	.|.	.|ENSP00000251481:R73X	A|R	+|+	2|1	0|2	SULT1C2|SULT1C2	108277182|108277182	0.934000|0.934000	0.31675|0.31675	0.792000|0.792000	0.32020|0.32020	0.998000|0.998000	0.95712|0.95712	0.880000|0.880000	0.28159|0.28159	1.287000|1.287000	0.44583|0.44583	0.655000|0.655000	0.94253|0.94253	GCG|CGA	SULT1C2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000198203		0.512	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	HGNC	protein_coding	OTTHUMT00000329969.2	-	0.00	53	0	C	NM_176825		108910750	+1	tier1	-	no_errors	ENST00000326853	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	0.802	T
SYNE1	23345	genome.wustl.edu	37	6	152473130	152473130	+	Silent	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr6:152473130C>T	ENST00000367255.5	-	134	24877	c.24276G>A	c.(24274-24276)ctG>ctA	p.L8092L	SYNE1_ENST00000354674.4_Silent_p.L247L|SYNE1_ENST00000423061.1_Silent_p.L8021L|SYNE1_ENST00000341594.5_Silent_p.L7704L|SYNE1_ENST00000539504.1_Silent_p.L247L|SYNE1_ENST00000356820.4_Silent_p.L2616L|SYNE1_ENST00000448038.1_Silent_p.L8021L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Silent_p.L8092L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8092					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACGCTTTTGCAGGTTGTCCC	0.522										HNSCC(10;0.0054)																																							0													161.0	103.0	123.0					6																	152473130		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24276G>A	6.37:g.152473130C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L8092	ENST00000367255.5	37	c.24276	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	59	0	C	NM_182961		152473130	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	T
TEX13A	56157	genome.wustl.edu	37	X	104465114	104465114	+	Splice_Site	SNP	C	C	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:104465114C>A	ENST00000413579.1	-	2	80		c.e2-1		TEX13A_ENST00000372575.1_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Splice_Site|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A								zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TTCACTAGCCCTGTGTGGATG	0.592																																																	0													17.0	18.0	17.0					X																	104465114		2201	4297	6498	SO:0001630	splice_region_variant	0			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.32-1G>T	X.37:g.104465114C>A			B1B1G8|Q32NB6	Splice_Site	SNP	-	e1-1	ENST00000413579.1	37	c.1-1		X																																																																																			TEX13A	-	-	ENSG00000133149		0.592	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding			0.00	17	0	C	NM_031274	Intron	104465114	-1			no_errors	ENST00000413579	ensembl	human	known	74_37	splice_site	8.16	45	4	SNP	0.001	A
TEX14	56155	genome.wustl.edu	37	17	56677018	56677018	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:56677018G>T	ENST00000240361.8	-	14	1791	c.1706C>A	c.(1705-1707)cCt>cAt	p.P569H	TEX14_ENST00000349033.5_Missense_Mutation_p.P563H|TEX14_ENST00000389934.3_Missense_Mutation_p.P563H			Q8IWB6	TEX14_HUMAN	testis expressed 14	569					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGAATGAGGTTGACTGCC	0.448																																																	0													36.0	38.0	37.0					17																	56677018		2169	4231	6400	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1706C>A	17.37:g.56677018G>T	ENSP00000240361:p.Pro569His		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P569H	ENST00000240361.8	37	c.1706	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064556	0.36470	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80653	-1.4;-1.4;-1.35	5.75	-4.85	0.03142	.	0.690283	0.13494	N	0.383774	T	0.73297	0.3569	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.68621	0.844;0.955;0.959	T	0.64580	-0.6374	10	0.17832	T	0.49	0.6055	3.3047	0.06996	0.4389:0.1078:0.3468:0.1066	.	569;563;563	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	569;563;563	ENSP00000240361:P569H;ENSP00000374584:P563H;ENSP00000268910:P563H	ENSP00000240361:P569H	P	-	2	0	TEX14	54032017	0.049000	0.20398	0.023000	0.16930	0.395000	0.30598	-0.057000	0.11768	-0.614000	0.05687	-0.150000	0.13652	CCT	TEX14	-	NULL	ENSG00000121101		0.448	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1		0.00	24	0	G			56677018	-1			no_errors	ENST00000240361	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.002	T
TLL1	7092	genome.wustl.edu	37	4	166915616	166915616	+	Missense_Mutation	SNP	G	G	A	rs537288580		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:166915616G>A	ENST00000061240.2	+	4	1092	c.445G>A	c.(445-447)Gct>Act	p.A149T	TLL1_ENST00000507499.1_Missense_Mutation_p.A149T|TLL1_ENST00000513213.1_Missense_Mutation_p.A149T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	149	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A149T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCCAGAGCCGCTACATCAAG	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											75.0	73.0	74.0					4																	166915616		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.445G>A	4.37:g.166915616G>A	ENSP00000061240:p.Ala149Thr		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.A149T	ENST00000061240.2	37	c.445	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350828	0.61183	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.79749	0.23;0.13;0.12;-1.3	5.51	5.51	0.81932	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.83418	0.5250	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.83025	-0.0165	10	0.35671	T	0.21	.	19.4226	0.94727	0.0:0.0:1.0:0.0	.	149;149	E9PD25;O43897	.;TLL1_HUMAN	T	149;149;149;49	ENSP00000061240:A149T;ENSP00000426082:A149T;ENSP00000422937:A149T;ENSP00000423748:A49T	ENSP00000061240:A149T	A	+	1	0	TLL1	167135066	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.959000	0.87885	2.593000	0.87608	0.655000	0.94253	GCT	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1		0.00	44	0	G			166915616	+1			no_errors	ENST00000061240	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A
TMPRSS15	5651	genome.wustl.edu	37	21	19713732	19713732	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr21:19713732G>T	ENST00000284885.3	-	13	1595	c.1562C>A	c.(1561-1563)cCt>cAt	p.P521H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	521						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.P521L(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTACTTACTAGGAAGTTCTGG	0.433																																																	1	Substitution - Missense(1)	NS(1)											134.0	128.0	130.0					21																	19713732		2203	4300	6503	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1562C>A	21.37:g.19713732G>T	ENSP00000284885:p.Pro521His		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.P521H	ENST00000284885.3	37	c.1562	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016095	0.75161	.	.	ENSG00000154646	ENST00000284885	D	0.88046	-2.33	5.64	5.64	0.86602	CUB (1);	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	M	0.72894	2.215	0.48632	D	0.999682	D	0.89917	1.0	D	0.97110	1.0	D	0.92318	0.5863	9	.	.	.	.	18.6798	0.91543	0.0:0.0:1.0:0.0	.	521	P98073	ENTK_HUMAN	H	521	ENSP00000284885:P521H	.	P	-	2	0	TMPRSS15	18635603	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.244000	0.72391	2.659000	0.90383	0.484000	0.47621	CCT	TMPRSS15	-	NULL	ENSG00000154646		0.433	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2		0.00	16	0	G	NM_002772		19713732	-1			no_errors	ENST00000284885	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
TOPBP1	11073	genome.wustl.edu	37	3	133347292	133347292	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:133347292G>T	ENST00000260810.5	-	16	2849	c.2718C>A	c.(2716-2718)caC>caA	p.H906Q		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	906	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCACTACTTTGTGAAGTGGCT	0.378								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													103.0	95.0	98.0					3																	133347292		1859	4100	5959	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2718C>A	3.37:g.133347292G>T	ENSP00000260810:p.His906Gln		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.H906Q	ENST00000260810.5	37	c.2718	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	3.414	-0.119572	0.06838	.	.	ENSG00000163781	ENST00000260810	T	0.79454	-1.27	5.31	1.41	0.22369	BRCT (3);	1.376430	0.03964	N	0.290510	T	0.65984	0.2744	L	0.27053	0.805	0.09310	N	1	B	0.22746	0.074	B	0.28011	0.085	T	0.48625	-0.9019	10	0.12766	T	0.61	.	6.7629	0.23550	0.1964:0.3862:0.4174:0.0	.	906	Q92547	TOPB1_HUMAN	Q	906	ENSP00000260810:H906Q	ENSP00000260810:H906Q	H	-	3	2	TOPBP1	134829982	0.029000	0.19370	0.560000	0.28344	0.831000	0.47069	0.905000	0.28504	0.300000	0.22699	-0.182000	0.12963	CAC	TOPBP1	-	pfam_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.378	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1		0.00	66	0	G	NM_007027		133347292	-1			no_errors	ENST00000260810	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T
TRMT1L	81627	genome.wustl.edu	37	1	185114695	185114695	+	Silent	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:185114695G>T	ENST00000367506.5	-	5	799	c.531C>A	c.(529-531)acC>acA	p.T177T	TRMT1L_ENST00000367504.3_Silent_p.T21T	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	177					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCATTTTACTGGTTATCTATC	0.328																																																	0													124.0	117.0	119.0					1																	185114695		2202	4298	6500	SO:0001819	synonymous_variant	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.531C>A	1.37:g.185114695G>T			Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Silent	SNP	pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T177	ENST00000367506.5	37	c.531	CCDS1366.1	1																																																																																			TRMT1L	-	NULL	ENSG00000121486		0.328	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1L	HGNC	protein_coding	OTTHUMT00000085787.1	-	0.00	46	0	G	NM_030934		185114695	-1	tier1	-	no_errors	ENST00000367506	ensembl	human	known	74_37	silent	7.84	45	4	SNP	1.000	T
TUBA3D	113457	genome.wustl.edu	37	2	132240337	132240337	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:132240337G>T	ENST00000321253.6	+	5	1376	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	423					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGCCCGCGAGGACCTGGCAG	0.572																																					Ovarian(137;2059 2432 35543 39401)												0													146.0	150.0	149.0					2																	132240337		2203	4300	6503	SO:0001583	missense	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1269G>T	2.37:g.132240337G>T	ENSP00000326042:p.Glu423Asp		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E423D	ENST00000321253.6	37	c.1269	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	g	5.618	0.298689	0.10622	.	.	ENSG00000075886	ENST00000321253	D	0.85556	-2.0	2.41	1.5	0.22942	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.46442	U	0.000298	D	0.82444	0.5038	M	0.65498	2.005	0.40862	D	0.983849	B	0.06786	0.001	B	0.30646	0.118	T	0.77122	-0.2704	10	0.87932	D	0	.	6.8794	0.24164	0.1556:0.0:0.8444:0.0	.	423	Q13748	TBA3C_HUMAN	D	423	ENSP00000326042:E423D	ENSP00000326042:E423D	E	+	3	2	TUBA3D	131956807	1.000000	0.71417	0.997000	0.53966	0.214000	0.24535	0.862000	0.27899	0.332000	0.23536	0.194000	0.17425	GAG	TUBA3D	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin	ENSG00000075886		0.572	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2		0.00	78	0	G	NM_080386		132240337	+1			no_errors	ENST00000321253	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
UBAP2	55833	genome.wustl.edu	37	9	33943548	33943548	+	Missense_Mutation	SNP	C	C	A	rs370649358		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr9:33943548C>A	ENST00000379238.1	-	15	1702	c.1585G>T	c.(1585-1587)Gtc>Ttc	p.V529F	UBAP2_ENST00000449054.1_Missense_Mutation_p.V529F|UBAP2_ENST00000379225.1_Missense_Mutation_p.V162F|UBAP2_ENST00000379239.4_Missense_Mutation_p.V262F|UBAP2_ENST00000360802.1_Missense_Mutation_p.V529F|UBAP2_ENST00000539807.1_Missense_Mutation_p.V284F|UBAP2_ENST00000418786.2_Missense_Mutation_p.V476F					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AATCCTGTGACATCTGCTGAA	0.463																																																	0													85.0	81.0	82.0					9																	33943548		2203	4300	6503	SO:0001583	missense	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1585G>T	9.37:g.33943548C>A	ENSP00000368540:p.Val529Phe			Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.V529F	ENST00000379238.1	37	c.1585	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482673	0.84747	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.27104	2.58;2.58;2.58;2.34;2.36;2.01;1.69	5.53	4.62	0.57501	.	0.179211	0.48767	D	0.000178	T	0.42245	0.1194	L	0.46157	1.445	0.58432	D	0.999993	D;D;P;P;D;D;D;D	0.76494	0.977;0.999;0.928;0.928;0.959;0.988;0.999;0.998	P;D;P;P;P;P;D;D	0.70935	0.803;0.933;0.648;0.648;0.734;0.88;0.96;0.971	T	0.29088	-1.0023	10	0.62326	D	0.03	-8.4655	12.6978	0.57014	0.0:0.861:0.0:0.139	.	476;454;284;262;438;162;454;529	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	F	529;529;529;438;262;284;476;162	ENSP00000368540:V529F;ENSP00000416932:V529F;ENSP00000354039:V529F;ENSP00000368541:V262F;ENSP00000439329:V284F;ENSP00000404436:V476F;ENSP00000368527:V162F	ENSP00000354039:V529F	V	-	1	0	UBAP2	33933548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.072000	0.41510	1.296000	0.44742	0.655000	0.94253	GTC	UBAP2	-	pfam_DUF3697_Uba2	ENSG00000137073		0.463	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	-	0.00	40	0	C	NM_018449		33943548	-1	tier1	-	no_errors	ENST00000360802	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A
UFSP2	55325	genome.wustl.edu	37	4	186339751	186339751	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:186339751G>A	ENST00000264689.6	-	3	372	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	86						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)	p.R86C(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGAATAAAGCGCAGTATGTTC	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											113.0	108.0	110.0					4																	186339751		2203	4300	6503	SO:0001583	missense	0			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.256C>T	4.37:g.186339751G>A	ENSP00000264689:p.Arg86Cys		Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.R86C	ENST00000264689.6	37	c.256	CCDS3842.1	4	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493780	0.26774	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.48836	1.47;0.8	5.98	4.24	0.50183	.	0.266487	0.38959	N	0.001518	T	0.44117	0.1278	L	0.60455	1.87	0.47778	D	0.999513	D	0.67145	0.996	B	0.40565	0.333	T	0.49579	-0.8925	10	0.87932	D	0	-22.0617	13.2164	0.59863	0.0:0.1223:0.7502:0.1274	.	86	Q9NUQ7	UFSP2_HUMAN	C	86;80	ENSP00000264689:R86C;ENSP00000423108:R80C	ENSP00000264689:R86C	R	-	1	0	UFSP2	186576745	0.727000	0.28069	0.999000	0.59377	0.177000	0.22998	3.364000	0.52328	0.831000	0.34780	-0.282000	0.10007	CGC	UFSP2	-	NULL	ENSG00000109775		0.343	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2		0.00	58	0	G	NM_018359		186339751	-1			no_errors	ENST00000264689	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A
USP22	23326	genome.wustl.edu	37	17	20916228	20916228	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:20916228C>T	ENST00000261497.4	-	7	1062	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	USP22_ENST00000537526.2_Missense_Mutation_p.A275T|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	287	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGTTGTTGGCCTTCTTCCCA	0.542																																																	0													172.0	178.0	176.0					17																	20916228		2079	4236	6315	SO:0001583	missense	0			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.859G>A	17.37:g.20916228C>T	ENSP00000261497:p.Ala287Thr		A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.A287T	ENST00000261497.4	37	c.859	CCDS42285.1	17	.	.	.	.	.	.	.	.	.	.	c	15.00	2.701860	0.48307	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.31247	1.5;1.5	4.03	4.03	0.46877	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.372196	0.25978	N	0.027097	T	0.24890	0.0604	L	0.38733	1.17	0.58432	D	0.999996	B;B	0.17268	0.021;0.003	B;B	0.17098	0.01;0.017	T	0.05699	-1.0869	10	0.14252	T	0.57	.	16.209	0.82146	0.0:1.0:0.0:0.0	.	275;287	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	T	355;275;287	ENSP00000440950:A275T;ENSP00000261497:A287T	ENSP00000261497:A287T	A	-	1	0	USP22	20856820	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.117000	0.64667	1.798000	0.52647	0.558000	0.71614	GCC	USP22	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000124422		0.542	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	-	0.00	48	0	C			20916228	-1	tier1	-	no_errors	ENST00000261497	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
USP39	10713	genome.wustl.edu	37	2	85876225	85876225	+	3'UTR	DEL	T	T	-	rs3832098|rs397780440	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:85876225delT	ENST00000323701.6	+	0	2002				USP39_ENST00000409766.3_3'UTR|USP39_ENST00000450066.2_3'UTR|USP39_ENST00000409025.1_3'UTR|USP39_ENST00000409470.1_3'UTR|USP39_ENST00000459775.1_3'UTR	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39						cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AACTTATGTCTTGAGTATCTG	0.433											OREG0014749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|TT|T|insertion	2451	0.489417	0.8805	0.3228	5008	,	,		21608	0.377		0.3728	False		,,,				2504	0.3149																0																																										SO:0001624	3_prime_UTR_variant	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.*294T>-	2.37:g.85876225delT		1240	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	RNA	DEL	-	NULL	ENST00000323701.6	37	NULL	CCDS33234.1	2																																																																																			USP39	-	-	ENSG00000168883		0.433	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1		0.00	12	0	T	NM_006590		85876225	+1	tier1		no_errors	ENST00000459775	ensembl	human	known	74_37	rna	50.00	10	10	DEL	0.888	-
USPL1	10208	genome.wustl.edu	37	13	31232940	31232940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr13:31232940delC	ENST00000255304.4	+	9	3068	c.2726delC	c.(2725-2727)tccfs	p.S909fs		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	909					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTTATGTCTTCCCCGCAAAGC	0.403																																					Ovarian(60;318 1180 1554 28110 31601)												0													59.0	60.0	59.0					13																	31232940		2203	4300	6503	SO:0001589	frameshift_variant	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2726delC	13.37:g.31232940delC	ENSP00000255304:p.Ser909fs		Q14109|Q6AI45|Q8IY30|Q8IYE8	Frame_Shift_Del	DEL	pfscan_Peptidase_C19/C67	p.P910fs	ENST00000255304.4	37	c.2726	CCDS9336.1	13																																																																																			USPL1	-	NULL	ENSG00000132952		0.403	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1		0.00	26	0	C	NM_005800		31232940	+1	tier1		no_errors	ENST00000255304	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.232	-
YEATS2	55689	genome.wustl.edu	37	3	183493744	183493746	+	In_Frame_Del	DEL	GGA	GGA	-	rs146705467|rs560342307|rs559825021	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:183493744_183493746delGGA	ENST00000305135.5	+	18	2605_2607	c.2410_2412delGGA	c.(2410-2412)ggadel	p.G814del		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	814	Gly-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGTGGTGCCggaggaggaggag	0.542																																																	0																																										SO:0001651	inframe_deletion	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2410_2412delGGA	3.37:g.183493753_183493755delGGA	ENSP00000306983:p.Gly814del		A7E2B9|D3DNS9|Q641P6|Q9NW96	In_Frame_Del	DEL	pfam_YEATS,pfscan_YEATS	p.G807in_frame_del	ENST00000305135.5	37	c.2410_2412	CCDS43175.1	3																																																																																			YEATS2	-	NULL	ENSG00000163872		0.542	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2		0.00	20	0	GGA	NM_018023		183493746	+1	tier1		no_errors	ENST00000305135	ensembl	human	known	74_37	in_frame_del	11.54	23	3	DEL	0.095:0.259:0.259	-
ZNF135	7694	genome.wustl.edu	37	19	58578889	58578889	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr19:58578889G>A	ENST00000313434.5	+	5	1138	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	ZNF135_ENST00000401053.4_Missense_Mutation_p.R370Q|ZNF135_ENST00000359978.6_Missense_Mutation_p.R358Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.R358Q|ZNF135_ENST00000506786.1_Missense_Mutation_p.R304Q|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.R346Q	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	346					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCATCTGCGAATCCACACT	0.572																																																	0													51.0	44.0	46.0					19																	58578889		2203	4300	6503	SO:0001583	missense	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1037G>A	19.37:g.58578889G>A	ENSP00000321406:p.Arg346Gln		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	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.R370Q	ENST00000313434.5	37	c.1109		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.86|11.86	1.765839|1.765839	0.31228|0.31228	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.24723	.|4.32;1.84;4.32;4.32;4.32;4.32	3.18|3.18	2.1|2.1	0.27182|0.27182	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.44435|0.44435	0.1293|0.1293	M|M	0.61703|0.61703	1.905|1.905	0.21950|0.21950	N|N	0.999456|0.999456	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.80764	.|0.983;0.994;0.984	T|T	0.15122|0.15122	-1.0448|-1.0448	5|9	.|0.59425	.|D	.|0.04	.|.	9.3833|9.3833	0.38327|0.38327	0.0:0.0:0.7847:0.2153|0.0:0.0:0.7847:0.2153	.|.	.|358;346;358	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	K|Q	364|358;370;358;346;346;358;304	.|ENSP00000441410:R370Q;ENSP00000369437:R358Q;ENSP00000444828:R346Q;ENSP00000321406:R346Q;ENSP00000422074:R358Q;ENSP00000427691:R304Q	.|ENSP00000321406:R346Q	E|R	+|+	1|2	0|0	ZNF135|ZNF135	63270701|63270701	0.001000|0.001000	0.12720|0.12720	0.655000|0.655000	0.29622|0.29622	0.006000|0.006000	0.05464|0.05464	0.772000|0.772000	0.26647|0.26647	0.655000|0.655000	0.30866|0.30866	-0.321000|-0.321000	0.08615|0.08615	GAA|CGA	ZNF135	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2		0.00	42	0	G	NM_003436		58578889	+1			no_errors	ENST00000401053	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.989	A
ZNF783	100289678	genome.wustl.edu	37	7	148984661	148984661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr7:148984661G>A	ENST00000418158.2	+	2	192	c.30G>A	c.(28-30)tgG>tgA	p.W10*	SNORD112_ENST00000516748.1_RNA|RP4-800G7.2_ENST00000416232.1_RNA|ZNF783_ENST00000489518.1_3'UTR			Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGCAGGACTGGCATTGCGGAC	0.562																																																	0																																										SO:0001587	stop_gained	0			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000418158.2:c.30G>A	7.37:g.148984661G>A	ENSP00000391817:p.Trp10*		C9J9J2	Nonsense_Mutation	SNP	NULL	p.W10*	ENST00000418158.2	37	c.30		7	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788391	0.70337	.	.	ENSG00000204946	ENST00000418158	.	.	.	3.75	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	8.7398	0.34550	0.114:0.0:0.886:0.0	.	.	.	.	X	10	.	ENSP00000391817:W10X	W	+	3	0	ZNF783	148615594	0.026000	0.19158	0.010000	0.14722	0.002000	0.02628	1.702000	0.37836	0.805000	0.34159	0.491000	0.48974	TGG	ZNF783	-	NULL	ENSG00000204946		0.562	ZNF783-201	KNOWN	basic	protein_coding	ZNF783	HGNC	protein_coding		-	0.00	49	0	G	NM_001195220		148984661	+1	tier1	-	no_errors	ENST00000418158	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.024	A
