#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
AARS2	57505	genome.wustl.edu	37	6	44274734	44274734	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:44274734G>T	ENST00000244571.4	-	7	1077	c.1075C>A	c.(1075-1077)Cgt>Agt	p.R359S	RP11-444E17.6_ENST00000505802.1_Missense_Mutation_p.R123L|TMEM151B_ENST00000438774.2_Missense_Mutation_p.A211S	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGGAGAAACGCACAGCTCGA	0.547																																																	0													90.0	83.0	85.0					6																	44274734		2203	4300	6503	SO:0001583	missense	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1075C>A	6.37:g.44274734G>T	ENSP00000244571:p.Arg359Ser			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R359S	ENST00000244571.4	37	c.1075	CCDS34464.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.007217|3.007217	0.54361|0.54361	.|.	.|.	ENSG00000178233|ENSG00000124608	ENST00000438774;ENST00000430110|ENST00000244571	.|T	.|0.77750	.|-1.12	4.42|4.42	4.42|4.42	0.53409|0.53409	.|Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88890|0.88890	0.6560|0.6560	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	B|D	0.20052|0.89917	0.041|1.0	B|D	0.19148|0.91635	0.024|0.999	D|D	0.91396|0.91396	0.5139|0.5139	8|10	0.87932|0.87932	D|D	0|0	-29.0678|-29.0678	17.2057|17.2057	0.86917|0.86917	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	211|359	Q8IW70-2|Q5JTZ9	.|SYAM_HUMAN	S|S	211|359	.|ENSP00000244571:R359S	ENSP00000410997:A211S|ENSP00000244571:R359S	A|R	+|-	1|1	0|0	TMEM151B|AARS2	44382712|44382712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.257000|0.257000	0.26127|0.26127	5.721000|5.721000	0.68477|0.68477	2.283000|2.283000	0.76528|0.76528	0.462000|0.462000	0.41574|0.41574	GCA|CGT	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.547	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0.00	56	0	G	NM_020745		44274734	-1			no_errors	ENST00000244571	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
AATK	9625	genome.wustl.edu	37	17	79094874	79094874	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:79094874C>T	ENST00000326724.4	-	11	2886	c.2862G>A	c.(2860-2862)gcG>gcA	p.A954A	AATK_ENST00000417379.1_Silent_p.A851A	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	954					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCCTTCCTGCGCCTCCTTGA	0.677																																																	0													16.0	20.0	19.0					17																	79094874		1981	4145	6126	SO:0001819	synonymous_variant	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.2862G>A	17.37:g.79094874C>T			O75136|Q6ZN31|Q86X28	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A954	ENST00000326724.4	37	c.2862	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.121225	0.01785	.	.	ENSG00000181409	ENST00000417379	.	.	.	4.79	-9.57	0.00562	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.24854	N	0.992385	.	.	.	.	.	.	T	0.09975	-1.0650	4	.	.	.	.	5.9939	0.19483	0.1041:0.4399:0.1194:0.3366	.	.	.	.	H	907	.	.	R	-	2	0	AATK	76709469	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.542000	0.00436	-4.400000	0.00051	-2.698000	0.00137	CGC	AATK	-	NULL	ENSG00000181409		0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1		0.00	35	0	C	NM_004920		79094874	-1			no_errors	ENST00000326724	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.000	T
ACACB	32	genome.wustl.edu	37	12	109703053	109703053	+	Missense_Mutation	SNP	C	C	T	rs372645487		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:109703053C>T	ENST00000338432.7	+	51	7200	c.7081C>T	c.(7081-7083)Cgc>Tgc	p.R2361C	ACACB_ENST00000377848.3_Missense_Mutation_p.R2361C|ACACB_ENST00000377854.5_Missense_Mutation_p.R2291C|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2361					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CATGCTGCGTCGCTGGTTCGT	0.667																																																	0								C	CYS/ARG	0,4406		0,0,2203	68.0	59.0	62.0		7081	4.3	1.0	12		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACACB	NM_001093.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2361/2459	109703053	1,13005	2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7081C>T	12.37:g.109703053C>T	ENSP00000341044:p.Arg2361Cys		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R2361C	ENST00000338432.7	37	c.7081	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	C	30	5.055251	0.93793	0.0	1.16E-4	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.56776	0.44;0.44;0.44	4.3	4.3	0.51218	.	0.059344	0.64402	D	0.000001	T	0.69717	0.3142	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	P	0.62740	0.906	T	0.75611	-0.3258	10	0.87932	D	0	.	17.1429	0.86758	0.0:1.0:0.0:0.0	.	2361	O00763	ACACB_HUMAN	C	2361;2361;2291;1592;55	ENSP00000341044:R2361C;ENSP00000367079:R2361C;ENSP00000367085:R2291C	ENSP00000341044:R2361C	R	+	1	0	ACACB	108187436	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.868000	0.69605	2.122000	0.65172	0.555000	0.69702	CGC	ACACB	-	NULL	ENSG00000076555		0.667	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0.00	48	0	C	NM_001093		109703053	+1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	T
ACSM3	6296	genome.wustl.edu	37	16	20808257	20808257	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:20808257G>T	ENST00000289416.5	+	14	2199	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	ERI2_ENST00000357967.4_3'UTR|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.R567I|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000564349.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	575					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AAGACAAAAAGAAATGAACTG	0.323																																																	0													79.0	84.0	82.0					16																	20808257		2201	4300	6501	SO:0001583	missense	0			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1724G>T	16.37:g.20808257G>T	ENSP00000289416:p.Arg575Ile		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R575I	ENST00000289416.5	37	c.1724	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	30	5.054391	0.93793	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.62364	0.03;0.03	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86337	0.1702	10	0.87932	D	0	-1.0999	20.3011	0.98612	0.0:0.0:1.0:0.0	.	567;575	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	I	575;567	ENSP00000289416:R575I;ENSP00000395297:R567I	ENSP00000289416:R575I	R	+	2	0	ACSM3	20715758	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.314000	0.72848	2.804000	0.96469	0.650000	0.86243	AGA	ACSM3	-	NULL	ENSG00000005187		0.323	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	-	0.00	68	0	G	NM_005622		20808257	+1	tier1	-	no_errors	ENST00000289416	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
ACTN2	88	genome.wustl.edu	37	1	236911004	236911004	+	Missense_Mutation	SNP	C	C	T	rs199604590		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:236911004C>T	ENST00000366578.4	+	13	1610	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R482W|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	482					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTCAATGATCGGTGCCAGAA	0.423																																																	0													51.0	53.0	52.0					1																	236911004		2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1444C>T	1.37:g.236911004C>T	ENSP00000355537:p.Arg482Trp		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R482W	ENST00000366578.4	37	c.1444	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831684	0.71258	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.56444	0.46;0.46	5.73	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	H	0.95043	3.615	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.83275	0.965;0.913;0.976;0.996	D	0.86817	0.2002	10	0.87932	D	0	.	15.0552	0.71908	0.3336:0.6664:0.0:0.0	.	267;482;252;482	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	W	482;482;251	ENSP00000443495:R482W;ENSP00000355537:R482W	ENSP00000355537:R482W	R	+	1	2	ACTN2	234977627	0.912000	0.30974	0.845000	0.33349	0.820000	0.46376	1.930000	0.40124	1.508000	0.48769	0.655000	0.94253	CGG	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.423	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0.00	45	0	C	NM_001103		236911004	+1	tier1	rs199604590	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	61.36	17	27	SNP	0.996	T
ACY3	91703	genome.wustl.edu	37	11	67410228	67410228	+	Silent	SNP	G	G	T	rs149837610		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:67410228G>T	ENST00000255082.3	-	8	1097	c.927C>A	c.(925-927)ccC>ccA	p.P309P	ACY3_ENST00000529256.1_Silent_p.P188P	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	309	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GGGTCAGCGCGGGCATGGCAG	0.587																																					GBM(56;346 1011 27014 29495 46841)												0													110.0	100.0	104.0					11																	67410228		2200	4294	6494	SO:0001819	synonymous_variant	0			BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.927C>A	11.37:g.67410228G>T				Silent	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.P309	ENST00000255082.3	37	c.927	CCDS8175.1	11																																																																																			ACY3	-	pirsf_Aspartoacylase	ENSG00000132744		0.587	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY3	HGNC	protein_coding	OTTHUMT00000394002.1	-	0.00	61	0	G	NM_080658		67410228	-1	tier1	-	no_errors	ENST00000255082	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.000	T
ADAMTS2	9509	genome.wustl.edu	37	5	178581177	178581177	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:178581177C>T	ENST00000251582.7	-	8	1356	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D419N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	419	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCCTGCCCGTCGTGCTCCATG	0.706																																																	0													12.0	11.0	11.0					5																	178581177		2189	4266	6455	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1255G>A	5.37:g.178581177C>T	ENSP00000251582:p.Asp419Asn			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.D419N	ENST00000251582.7	37	c.1255	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.238722	0.95240	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.91295	-2.82;-2.82	4.81	4.81	0.61882	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000030	D	0.96700	0.8923	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97917	1.0312	10	0.87932	D	0	.	17.2384	0.87006	0.0:1.0:0.0:0.0	.	419;419	O95450-2;O95450	.;ATS2_HUMAN	N	419	ENSP00000251582:D419N;ENSP00000274609:D419N	ENSP00000251582:D419N	D	-	1	0	ADAMTS2	178513783	1.000000	0.71417	0.346000	0.25655	0.978000	0.69477	7.569000	0.82380	2.369000	0.80426	0.655000	0.94253	GAC	ADAMTS2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000087116		0.706	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0.00	21	0	C	NM_014244		178581177	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	88.89	2	16	SNP	0.998	T
AEBP1	165	genome.wustl.edu	37	7	44149310	44149310	+	Intron	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:44149310G>A	ENST00000223357.3	+	10	1455				MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank|AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1						cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CGCCCTGGGGGAGCTCTACCT	0.622																																																	0																																										SO:0001627	intron_variant	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1151-304G>A	7.37:g.44149310G>A			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	RNA	SNP	-	NULL	ENST00000223357.3	37	NULL	CCDS5476.1	7																																																																																			AEBP1	-	-	ENSG00000106624		0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0.00	49	0	G	NM_001129		44149310	+1	tier1	-	no_errors	ENST00000454218	ensembl	human	known	74_37	rna	21.43	66	18	SNP	0.001	A
AKAP3	10566	genome.wustl.edu	37	12	4737076	4737076	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:4737076G>A	ENST00000545990.2	-	5	1516	c.992C>T	c.(991-993)tCg>tTg	p.S331L	AKAP3_ENST00000228850.1_Missense_Mutation_p.S331L|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	331					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GATGAGATCCGAGACCACCTC	0.483																																																	0													162.0	150.0	154.0					12																	4737076		2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.992C>T	12.37:g.4737076G>A	ENSP00000440994:p.Ser331Leu		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S331L	ENST00000545990.2	37	c.992	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190872	0.78789	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.13089	2.62;2.62	5.67	5.67	0.87782	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000044	T	0.40862	0.1134	M	0.78801	2.425	0.41235	D	0.986608	D	0.89917	1.0	D	0.87578	0.998	T	0.19516	-1.0303	10	0.87932	D	0	-13.3884	17.0413	0.86490	0.0:0.0:1.0:0.0	.	331	O75969	AKAP3_HUMAN	L	331	ENSP00000228850:S331L;ENSP00000440994:S331L	ENSP00000228850:S331L	S	-	2	0	AKAP3	4607337	1.000000	0.71417	0.978000	0.43139	0.885000	0.51271	5.508000	0.67006	2.828000	0.97474	0.655000	0.94253	TCG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0.00	37	0	G	NM_006422		4737076	-1	tier1	-	no_errors	ENST00000228850	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.992	A
ALDOC	230	genome.wustl.edu	37	17	26901110	26901110	+	Silent	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:26901110A>G	ENST00000226253.4	-	7	1249	c.774T>C	c.(772-774)cgT>cgC	p.R258R	PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395319.3_Silent_p.R230R|PIGS_ENST00000395346.2_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395321.2_Silent_p.R258R	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	258					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GCACAGTGCGACGCAGGGCAG	0.602																																																	0													130.0	130.0	130.0					17																	26901110		2203	4300	6503	SO:0001819	synonymous_variant	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.774T>C	17.37:g.26901110A>G			B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	pfam_Aldolase_I	p.R258	ENST00000226253.4	37	c.774	CCDS11236.1	17																																																																																			ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.602	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0.00	36	0	A			26901110	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	silent	30.43	32	14	SNP	0.999	G
ALX1	8092	genome.wustl.edu	37	12	85674198	85674198	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:85674198C>A	ENST00000316824.3	+	1	314	c.159C>A	c.(157-159)ttC>ttA	p.F53L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	53					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGCAGGCCTTCGGACCCCTGC	0.642																																																	0													42.0	43.0	42.0					12																	85674198		2203	4300	6503	SO:0001583	missense	0			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.159C>A	12.37:g.85674198C>A	ENSP00000315417:p.Phe53Leu		Q546C8|Q96FH4	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.F53L	ENST00000316824.3	37	c.159	CCDS9028.1	12	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137441	0.56936	.	.	ENSG00000180318	ENST00000316824	D	0.91631	-2.88	5.47	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	N	0.24115	0.695	0.54753	D	0.99998	D	0.58268	0.982	D	0.66351	0.943	D	0.84316	0.0513	10	0.14656	T	0.56	.	7.0616	0.25129	0.1372:0.7099:0.0:0.1529	.	53	Q15699	ALX1_HUMAN	L	53	ENSP00000315417:F53L	ENSP00000315417:F53L	F	+	3	2	ALX1	84198329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.939000	0.28978	0.629000	0.30376	0.650000	0.86243	TTC	ALX1	-	NULL	ENSG00000180318		0.642	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX1	HGNC	protein_coding	OTTHUMT00000406072.1		0.00	35	0	C	NM_006982		85674198	+1			no_errors	ENST00000316824	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
ANK1	286	genome.wustl.edu	37	8	41554052	41554052	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:41554052C>T	ENST00000347528.4	-	26	2872	c.2789G>A	c.(2788-2790)cGc>cAc	p.R930H	ANK1_ENST00000396942.1_Missense_Mutation_p.R930H|ANK1_ENST00000396945.1_Missense_Mutation_p.R930H|ANK1_ENST00000265709.8_Missense_Mutation_p.R971H|ANK1_ENST00000379758.2_Missense_Mutation_p.R930H|ANK1_ENST00000352337.4_Missense_Mutation_p.R930H|ANK1_ENST00000289734.7_Missense_Mutation_p.R930H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	930	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCGTTGTGGCGACTTCCTCT	0.657																																																	0													50.0	46.0	47.0					8																	41554052		2203	4300	6503	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2789G>A	8.37:g.41554052C>T	ENSP00000339620:p.Arg930His		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R930H	ENST00000347528.4	37	c.2789	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.611816	0.96637	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.67	5.67	0.87782	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.988;0.984;0.998;1.0;0.988;1.0	T	0.75494	-0.3298	10	0.87932	D	0	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	971;930;930;930;930;246	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	H	930;930;930;930;930;930;971;930	ENSP00000339620:R930H;ENSP00000289734:R930H;ENSP00000369082:R930H;ENSP00000380149:R930H;ENSP00000380147:R930H;ENSP00000309131:R930H;ENSP00000265709:R971H	ENSP00000265709:R971H	R	-	2	0	ANK1	41673209	1.000000	0.71417	0.575000	0.28536	0.957000	0.61999	7.785000	0.85724	2.686000	0.91538	0.561000	0.74099	CGC	ANK1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000029534		0.657	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0.00	110	0	C	NM_020475		41554052	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	23.33	44	14	SNP	1.000	T
ARHGAP25	9938	genome.wustl.edu	37	2	69046254	69046254	+	Splice_Site	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:69046254G>T	ENST00000295381.3	+	9	1419		c.e9-1		ARHGAP25_ENST00000467265.1_Splice_Site|ARHGAP25_ENST00000497079.1_Splice_Site|ARHGAP25_ENST00000409030.3_Splice_Site|ARHGAP25_ENST00000479844.1_Splice_Site|ARHGAP25_ENST00000409220.1_Splice_Site|ARHGAP25_ENST00000409202.3_Splice_Site	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTGTCTTTCAGGGACTCCTCA	0.493																																																	0													171.0	188.0	182.0					2																	69046254		2203	4300	6503	SO:0001630	splice_region_variant	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1001-1G>T	2.37:g.69046254G>T			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Splice_Site	SNP	-	e9-1	ENST00000295381.3	37	c.1004-1		2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064805	0.76187	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000497259;ENST00000479844	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.762	0.88467	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP25	68899758	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.871000	0.92346	2.737000	0.93849	0.563000	0.77884	.	ARHGAP25	-	-	ENSG00000163219		0.493	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		-	0.00	66	0	G	NM_014882	Intron	69046254	+1	tier1	-	no_errors	ENST00000409202	ensembl	human	known	74_37	splice_site	6.35	59	4	SNP	1.000	T
ARHGEF4	50649	genome.wustl.edu	37	2	131674056	131674056	+	5'Flank	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:131674056C>T	ENST00000326016.5	+	0	0				ARHGEF4_ENST00000409359.1_Missense_Mutation_p.P516L|ARHGEF4_ENST00000392953.3_5'Flank|ARHGEF4_ENST00000428230.2_5'Flank|ARHGEF4_ENST00000525839.1_5'Flank	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4						apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGGACGCACCGCCTCTGCAC	0.771																																																	0																																										SO:0001631	upstream_gene_variant	0			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657		2.37:g.131674056C>T	Exception_encountered		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	NULL	p.P516L	ENST00000326016.5	37	c.1547	CCDS2165.1	2	.	.	.	.	.	.	.	.	.	.	C	5.674	0.308876	0.10733	.	.	ENSG00000136002	ENST00000409359	T	0.43688	0.94	3.47	0.545	0.17190	.	.	.	.	.	T	0.22820	0.0551	.	.	.	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.22103	-1.0226	7	.	.	.	.	5.2375	0.15454	0.0:0.5878:0.0:0.4122	.	516	E7EV07	.	L	516	ENSP00000386794:P516L	.	P	+	2	0	ARHGEF4	131390526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.113000	0.15499	0.237000	0.21200	-0.424000	0.05967	CCG	ARHGEF4	-	NULL	ENSG00000136002		0.771	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	-	0.00	17	0	C			131674056	+1	tier1	-	no_errors	ENST00000409359	ensembl	human	putative	74_37	missense	35.00	13	7	SNP	0.000	T
ASIC2	40	genome.wustl.edu	37	17	31439044	31439044	+	Silent	SNP	G	G	T	rs201936906	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:31439044G>T	ENST00000359872.6	-	2	1358	c.597C>A	c.(595-597)ggC>ggA	p.G199G	ASIC2_ENST00000225823.2_Silent_p.G250G|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	199					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TGCCATCCTCGCCTGAGTTAA	0.527																																																	0													117.0	96.0	103.0					17																	31439044		2203	4300	6503	SO:0001819	synonymous_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.597C>A	17.37:g.31439044G>T			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.G250	ENST00000359872.6	37	c.750	CCDS42296.1	17																																																																																			ASIC2	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000108684		0.527	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	-	0.00	52	0	G	NM_183377, NM_001094		31439044	-1	tier1	-	no_errors	ENST00000225823	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T
ATIC	471	genome.wustl.edu	37	2	216214359	216214359	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:216214359delT	ENST00000236959.9	+	16	2086	c.1760delT	c.(1759-1761)cttfs	p.L587fs	ATIC_ENST00000435675.1_Frame_Shift_Del_p.L586fs|ATIC_ENST00000540518.1_Frame_Shift_Del_p.L528fs	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	587					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	CATACGAACCTTCGGCTCTTC	0.478			T	ALK	ALCL																																			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0													230.0	197.0	208.0					2																	216214359		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1760delT	2.37:g.216214359delT	ENSP00000236959:p.Leu587fs		A8K202|E9PBU3|Q13856|Q53S28	Frame_Shift_Del	DEL	pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas	p.R588fs	ENST00000236959.9	37	c.1760	CCDS2398.1	2																																																																																			ATIC	-	superfamily_Cytidine_deaminase-like,pirsf_AICARFT_IMPCHas	ENSG00000138363		0.478	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATIC	HGNC	protein_coding	OTTHUMT00000256610.1		0.00	48	0	T	NM_004044		216214359	+1	tier1		no_errors	ENST00000236959	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.999	-
ATP2B2	491	genome.wustl.edu	37	3	10400462	10400462	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:10400462C>T	ENST00000352432.4	-	13	2118	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P	ATP2B2_ENST00000397077.1_Silent_p.P638P|ATP2B2_ENST00000383800.4_Silent_p.P638P|ATP2B2_ENST00000343816.4_Silent_p.P669P|ATP2B2_ENST00000360273.2_Silent_p.P683P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	683					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGTCCGGCTCCGGGCTGCTGG	0.637																																					Ovarian(125;1619 1709 15675 19819 38835)												0													66.0	54.0	58.0					3																	10400462		2203	4300	6503	SO:0001819	synonymous_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2049G>A	3.37:g.10400462C>T			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.P683	ENST00000352432.4	37	c.2049	CCDS33701.1	3																																																																																			ATP2B2	-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000157087		0.637	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0.00	70	0	C	NM_001683		10400462	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	silent	21.43	44	12	SNP	0.014	T
ATP6V0A1	535	genome.wustl.edu	37	17	40646421	40646421	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:40646421T>C	ENST00000343619.4	+	12	1367	c.1244T>C	c.(1243-1245)tTa>tCa	p.L415S	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L415S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L372S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L372S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L422S|MIR548AT_ENST00000578714.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L415S|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.L61S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	415					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CATGGCATTTTAATGACCCTT	0.388																																																	0													182.0	163.0	169.0					17																	40646421		2203	4300	6503	SO:0001583	missense	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1244T>C	17.37:g.40646421T>C	ENSP00000342951:p.Leu415Ser		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.L422S	ENST00000343619.4	37	c.1265	CCDS45684.1	17	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848448	0.91277	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;0.996;1.0;0.996	D;D;D;D;D	0.91635	0.985;0.985;0.984;0.999;0.931	D	0.97154	0.9833	10	0.87932	D	0	-19.386	15.7962	0.78412	0.0:0.0:0.0:1.0	.	372;372;422;415;415	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	415;415;415;422;372;61	ENSP00000342951:L415S;ENSP00000444676:L415S;ENSP00000377415:L415S;ENSP00000264649:L422S;ENSP00000443991:L372S;ENSP00000446377:L61S	ENSP00000264649:L422S	L	+	2	0	ATP6V0A1	37899947	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.987000	0.88182	2.138000	0.66242	0.459000	0.35465	TTA	ATP6V0A1	-	pfam_V-ATPase_116kDa_su	ENSG00000033627		0.388	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	-	0.00	68	0	T	NM_001130020		40646421	+1	tier1	-	no_errors	ENST00000264649	ensembl	human	known	74_37	missense	21.35	70	19	SNP	1.000	C
AWAT1	158833	genome.wustl.edu	37	X	69459688	69459688	+	Missense_Mutation	SNP	C	C	T	rs373394760		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:69459688C>T	ENST00000374521.3	+	6	777	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	246					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGCTTCCGCCGTATCTTTGG	0.498																																																	0													135.0	122.0	126.0					X																	69459688		2203	4300	6503	SO:0001583	missense	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.736C>T	X.37:g.69459688C>T	ENSP00000363645:p.Arg246Cys		Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.R246C	ENST00000374521.3	37	c.736	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195647	0.58126	.	.	ENSG00000204195	ENST00000374521	T	0.15718	2.4	5.39	-1.6	0.08426	.	0.893166	0.09691	N	0.768393	T	0.30293	0.0760	M	0.86268	2.805	0.09310	N	0.999999	D	0.55172	0.97	P	0.48114	0.567	T	0.38265	-0.9669	10	0.87932	D	0	0.0839	11.2528	0.49037	0.7108:0.1844:0.1048:0.0	.	246	Q58HT5	AWAT1_HUMAN	C	246	ENSP00000363645:R246C	ENSP00000363645:R246C	R	+	1	0	AWAT1	69376413	0.318000	0.24598	0.001000	0.08648	0.896000	0.52359	0.614000	0.24314	-0.091000	0.12440	0.544000	0.68410	CGT	AWAT1	-	pfam_DAGAT	ENSG00000204195		0.498	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	-	0.00	25	0	C	NM_001013579		69459688	+1	tier1	-	no_errors	ENST00000374521	ensembl	human	known	74_37	missense	65.62	11	21	SNP	0.001	T
BAI2	576	genome.wustl.edu	37	1	32207538	32207538	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:32207538G>A	ENST00000373658.3	-	9	1789	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_ENST00000527361.1_Missense_Mutation_p.A483V|BAI2_ENST00000257070.4_Missense_Mutation_p.A483V|BAI2_ENST00000398547.1_Missense_Mutation_p.A416V|BAI2_ENST00000398556.3_Missense_Mutation_p.A431V|BAI2_ENST00000398538.1_Missense_Mutation_p.A471V|BAI2_ENST00000440175.2_Missense_Mutation_p.A125V|BAI2_ENST00000373655.2_Missense_Mutation_p.A483V|BAI2_ENST00000398542.1_Missense_Mutation_p.A416V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	483	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGCTCCACGCATTCCATGG	0.642																																																	0													66.0	65.0	65.0					1																	32207538		2203	4300	6503	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1448C>T	1.37:g.32207538G>A	ENSP00000362762:p.Ala483Val		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A483V	ENST00000373658.3	37	c.1448	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171248	0.38315	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001572	T	0.49558	0.1564	L	0.39566	1.225	0.09310	N	1	B;P;B;B;B;D;B	0.53885	0.386;0.544;0.334;0.16;0.386;0.963;0.386	B;B;B;B;B;P;B	0.50049	0.104;0.1;0.038;0.028;0.064;0.629;0.104	T	0.41305	-0.9516	10	0.26408	T	0.33	.	11.1636	0.48531	0.0:0.0:0.7045:0.2955	.	416;483;471;125;416;483;483	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	V	431;416;483;483;416;483;483;125;471;421;462	ENSP00000381564:A431V;ENSP00000381555:A416V;ENSP00000362762:A483V;ENSP00000362759:A483V;ENSP00000381550:A416V;ENSP00000257070:A483V;ENSP00000435397:A483V;ENSP00000391071:A125V;ENSP00000381548:A471V;ENSP00000410921:A421V;ENSP00000437219:A462V	ENSP00000257070:A483V	A	-	2	0	BAI2	31980125	0.306000	0.24490	0.009000	0.14445	0.950000	0.60333	2.883000	0.48554	2.457000	0.83068	0.561000	0.74099	GCG	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000121753		0.642	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0.00	30	0	G	NM_001703		32207538	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	12.12	28	4	SNP	0.116	A
BAIAP3	8938	genome.wustl.edu	37	16	1394468	1394469	+	Splice_Site	DEL	AG	AG	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:1394468_1394469delAG	ENST00000324385.5	+	18	1865		c.e18-1		BAIAP3_ENST00000421665.2_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000397489.1_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGTCTGTTGCAGAGAGGCAACC	0.609																																																	0																																										SO:0001630	splice_region_variant	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1708-1AG>-	16.37:g.1394472_1394473delAG			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Splice_Site	DEL	-	e18-1	ENST00000324385.5	37	c.1708-2_1708-1	CCDS10434.1	16																																																																																			BAIAP3	-	-	ENSG00000007516		0.609	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3		0.00	20	0	AG		Intron	1394469	+1	tier1		no_errors	ENST00000324385	ensembl	human	known	74_37	splice_site_del	60.00	6	9	DEL	1.000:1.000	-
BCR	613	genome.wustl.edu	37	22	23658274	23658275	+	3'UTR	INS	-	-	TTC	rs199982774|rs202178919		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:23658274_23658275insTTC	ENST00000305877.8	+	0	5132_5133				BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CATTCTTGGCTTTCTTTTTCTT	0.47			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.*566->TTC	22.37:g.23658275_23658277dupTTC			P78501|Q12842|Q4LE80|Q6NZI3	RNA	INS	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-	ENSG00000186716		0.470	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1		0.00	24	0	-	NM_004327		23658275	+1	tier1		no_errors	ENST00000436990	ensembl	human	known	74_37	rna	14.81	23	4	INS	0.000:0.000	TTC
BMP3	651	genome.wustl.edu	37	4	81967109	81967109	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:81967109A>C	ENST00000282701.2	+	2	854	c.534A>C	c.(532-534)caA>caC	p.Q178H		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	178					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACCAAAGTCAACTCCTTGGCC	0.448																																																	0													159.0	155.0	156.0					4																	81967109		2203	4300	6503	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.534A>C	4.37:g.81967109A>C	ENSP00000282701:p.Gln178His		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.Q178H	ENST00000282701.2	37	c.534	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	A	5.336	0.247260	0.10130	.	.	ENSG00000152785	ENST00000282701	T	0.65916	-0.18	4.47	-4.32	0.03688	Transforming growth factor-beta, N-terminal (1);	0.350612	0.34178	N	0.004185	T	0.41880	0.1178	L	0.46157	1.445	0.28147	N	0.929537	B	0.06786	0.001	B	0.12156	0.007	T	0.15037	-1.0451	10	0.46703	T	0.11	.	1.0711	0.01622	0.1941:0.1328:0.3125:0.3606	.	178	P12645	BMP3_HUMAN	H	178	ENSP00000282701:Q178H	ENSP00000282701:Q178H	Q	+	3	2	BMP3	82186133	0.992000	0.36948	0.974000	0.42286	0.052000	0.14988	0.331000	0.19733	-0.518000	0.06452	-0.290000	0.09829	CAA	BMP3	-	pfam_TGF-b_N,pirsf_BMP3/GDF10	ENSG00000152785		0.448	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	-	0.00	48	0	A			81967109	+1	tier1	-	no_errors	ENST00000282701	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.857	C
BNC1	646	genome.wustl.edu	37	15	83932270	83932270	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:83932270T>C	ENST00000345382.2	-	4	1818	c.1733A>G	c.(1732-1734)gAg>gGg	p.E578G	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.E571G	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	578					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGCAGGCCTCCTGCTCATC	0.507																																																	0													181.0	169.0	173.0					15																	83932270		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1733A>G	15.37:g.83932270T>C	ENSP00000307041:p.Glu578Gly		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E578G	ENST00000345382.2	37	c.1733	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007369	0.75046	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.51071	0.72	4.93	4.93	0.64822	.	0.363991	0.30159	N	0.010280	T	0.66147	0.2760	M	0.65975	2.015	0.58432	D	0.999997	D;B	0.89917	1.0;0.114	D;B	0.87578	0.998;0.055	T	0.66956	-0.5792	10	0.45353	T	0.12	-28.2063	14.7493	0.69513	0.0:0.0:0.0:1.0	.	571;578	F5GY04;Q01954	.;BNC1_HUMAN	G	578;571	ENSP00000307041:E578G	ENSP00000307041:E578G	E	-	2	0	BNC1	81723274	1.000000	0.71417	0.937000	0.37676	0.802000	0.45316	4.076000	0.57591	2.067000	0.61834	0.533000	0.62120	GAG	BNC1	-	NULL	ENSG00000169594		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0.00	61	0	T	NM_001717		83932270	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	67.35	16	33	SNP	0.993	C
CCDC186	55088	genome.wustl.edu	37	10	115896001	115896001	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:115896001G>A	ENST00000369287.3	-	8	1597	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	C10orf118_ENST00000543782.1_Missense_Mutation_p.S42L	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		444										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTTCTTCTGACTCCTAGTG	0.358																																																	0													120.0	116.0	117.0					10																	115896001		2203	4300	6503	SO:0001583	missense	0																														ENST00000369287.3:c.1331C>T	10.37:g.115896001G>A	ENSP00000358293:p.Ser444Leu		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S444L	ENST00000369287.3	37	c.1331	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.117596	0.94385	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T;T	0.58060	0.36;0.36	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.72669	-0.4223	10	0.41790	T	0.15	.	16.9439	0.86225	0.0:0.0:1.0:0.0	.	42;444	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	L	444;42;550	ENSP00000358293:S444L;ENSP00000441576:S42L	ENSP00000358293:S444L	S	-	2	0	C10orf118	115885991	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.971000	0.88012	2.394000	0.81467	0.543000	0.68304	TCA	C10orf118	-	NULL	ENSG00000165813		0.358	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	-	0.00	46	0	G			115896001	-1	tier1	-	no_errors	ENST00000369287	ensembl	human	known	74_37	missense	40.00	29	20	SNP	1.000	A
C10orf90	118611	genome.wustl.edu	37	10	128193537	128193537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:128193537G>A	ENST00000284694.7	-	3	352	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	C10orf90_ENST00000356858.3_Nonsense_Mutation_p.Q31*|C10orf90_ENST00000544758.1_Nonsense_Mutation_p.Q175*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.Q78*|C10orf90_ENST00000392694.1_Nonsense_Mutation_p.Q31*|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	78					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCACGAGACTGAGCAATGGCA	0.488																																																	0													148.0	123.0	131.0					10																	128193537		2203	4300	6503	SO:0001587	stop_gained	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.232C>T	10.37:g.128193537G>A	ENSP00000284694:p.Gln78*		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Nonsense_Mutation	SNP	NULL	p.Q175*	ENST00000284694.7	37	c.523	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.921999	0.99004	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	.	.	.	4.4	4.4	0.53042	.	0.663512	0.13416	N	0.389528	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.3347	16.1717	0.81822	0.0:0.0:1.0:0.0	.	.	.	.	X	31;78;78;175;78;31;31	.	ENSP00000284694:Q78X	Q	-	1	0	C10orf90	128183527	0.974000	0.33945	0.004000	0.12327	0.001000	0.01503	4.079000	0.57613	2.286000	0.76751	0.561000	0.74099	CAG	C10orf90	-	NULL	ENSG00000154493		0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0.00	41	0	G	NM_001004298		128193537	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	nonsense	27.78	39	15	SNP	0.263	A
C12orf40	283461	genome.wustl.edu	37	12	40076598	40076598	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:40076598T>G	ENST00000324616.5	+	8	1026	c.872T>G	c.(871-873)cTt>cGt	p.L291R	C12orf40_ENST00000398716.1_Missense_Mutation_p.L214R|C12orf40_ENST00000405531.3_Missense_Mutation_p.L291R	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	291										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTCCTAACCTTCTATCAGAG	0.313																																																	0													128.0	124.0	125.0					12																	40076598		1830	4076	5906	SO:0001583	missense	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.872T>G	12.37:g.40076598T>G	ENSP00000317671:p.Leu291Arg		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.L291R	ENST00000324616.5	37	c.872	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	T	9.236	1.037077	0.19669	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.49720	0.77;0.79	5.26	1.14	0.20703	.	1.623700	0.03365	N	0.198106	T	0.37210	0.0995	L	0.29908	0.895	0.09310	N	1	B	0.31859	0.343	B	0.34779	0.189	T	0.30822	-0.9965	10	0.62326	D	0.03	.	2.5729	0.04799	0.1422:0.0888:0.1569:0.6121	.	291	Q86WS4	CL040_HUMAN	R	291;214;291	ENSP00000383897:L291R;ENSP00000317671:L291R	ENSP00000317671:L291R	L	+	2	0	C12orf40	38362865	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.076000	0.16826	0.482000	0.46254	CTT	C12orf40	-	NULL	ENSG00000180116		0.313	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0.00	47	0	T	NM_173599		40076598	+1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	41.07	33	23	SNP	0.001	G
C17orf70	80233	genome.wustl.edu	37	17	79508409	79508409	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:79508409C>T	ENST00000327787.8	-	8	2486	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	C17orf70_ENST00000425898.2_Missense_Mutation_p.E463K|C17orf70_ENST00000537152.1_Missense_Mutation_p.E663K			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	814					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTGGCCTGCTCTGTCACCATC	0.672																																																	0													80.0	66.0	71.0					17																	79508409		2200	4297	6497	SO:0001583	missense	0			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2440G>A	17.37:g.79508409C>T	ENSP00000333283:p.Glu814Lys		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.E814K	ENST00000327787.8	37	c.2440	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	8.623	0.891782	0.17613	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.33654	1.4;1.4;1.4	3.85	1.72	0.24424	.	0.692929	0.13064	N	0.416605	T	0.29423	0.0733	L	0.39898	1.24	0.33091	D	0.537938	P;P	0.42908	0.573;0.793	B;B	0.40940	0.23;0.344	T	0.35871	-0.9771	10	0.27082	T	0.32	.	11.119	0.48277	0.0:0.6372:0.3628:0.0	.	814;463	Q0VG06;E7EVV8	FP100_HUMAN;.	K	814;463;187;663	ENSP00000333283:E814K;ENSP00000399674:E463K;ENSP00000440151:E663K	ENSP00000333283:E814K	E	-	1	0	C17orf70	77118884	0.035000	0.19736	0.115000	0.21578	0.004000	0.04260	1.247000	0.32815	0.369000	0.24510	-0.282000	0.10007	GAG	C17orf70	-	NULL	ENSG00000185504		0.672	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	-	0.00	59	0	C	NM_025161		79508409	-1	tier1	-	no_errors	ENST00000327787	ensembl	human	known	74_37	missense	31.71	56	26	SNP	0.560	T
C1QC	714	genome.wustl.edu	37	1	22970666	22970666	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:22970666C>T	ENST00000374639.3	+	2	268	c.150C>T	c.(148-150)taC>taT	p.Y50Y	C1QC_ENST00000374640.4_Silent_p.Y50Y|C1QC_ENST00000374637.1_Silent_p.Y50Y	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	50	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGATGGGTACGACGGACTGC	0.682																																					Ovarian(26;671 750 8290 29071 43278)												0													16.0	18.0	17.0					1																	22970666		2187	4282	6469	SO:0001819	synonymous_variant	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.150C>T	1.37:g.22970666C>T			Q7Z502|Q96DL2|Q96H05	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Y50	ENST00000374639.3	37	c.150	CCDS227.1	1																																																																																			C1QC	-	pfam_Collagen	ENSG00000159189		0.682	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1		0.00	67	0	C	NM_172369		22970666	+1			no_errors	ENST00000374637	ensembl	human	known	74_37	silent	5.00	56	3	SNP	0.442	T
C1orf168	199920	genome.wustl.edu	37	1	57202804	57202804	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:57202804T>G	ENST00000343433.6	-	15	1829	c.1749A>C	c.(1747-1749)gaA>gaC	p.E583D	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	583										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AAATAATAACTTCCTGAGACT	0.338																																																	0													94.0	90.0	91.0					1																	57202804		2203	4297	6500	SO:0001583	missense	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1749A>C	1.37:g.57202804T>G	ENSP00000345972:p.Glu583Asp		Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.E583D	ENST00000343433.6	37	c.1749	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	T	4.730	0.135778	0.09032	.	.	ENSG00000187889	ENST00000343433	T	0.31247	1.5	4.92	-0.791	0.10929	.	0.642141	0.14248	N	0.331634	T	0.14787	0.0357	N	0.16656	0.425	0.21386	N	0.999704	B	0.19935	0.04	B	0.16722	0.016	T	0.34004	-0.9846	10	0.11485	T	0.65	-1.8664	9.0615	0.36438	0.6413:0.0:0.0:0.3587	.	583	Q5VWT5	CA168_HUMAN	D	583	ENSP00000345972:E583D	ENSP00000345972:E583D	E	-	3	2	C1orf168	56975392	0.507000	0.26146	0.990000	0.47175	0.096000	0.18686	0.102000	0.15272	0.064000	0.16427	-0.343000	0.07986	GAA	C1orf168	-	NULL	ENSG00000187889		0.338	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	-	0.00	46	0	T	NM_001004303		57202804	-1	tier1	-	no_errors	ENST00000343433	ensembl	human	known	74_37	missense	50.00	16	16	SNP	0.897	G
C2CD3	26005	genome.wustl.edu	37	11	73744868	73744868	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:73744868G>A	ENST00000334126.7	-	31	6563	c.6337C>T	c.(6337-6339)Cct>Tct	p.P2113S	C2CD3_ENST00000542452.1_5'UTR			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	2113					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCTGGAGAAGGACAAGAGGGG	0.552																																																	0																																										SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.6337C>T	11.37:g.73744868G>A	ENSP00000334379:p.Pro2113Ser		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.P2113S	ENST00000334126.7	37	c.6337		11	.	.	.	.	.	.	.	.	.	.	G	12.20	1.868051	0.32977	.	.	ENSG00000168014	ENST00000334126	T	0.10005	2.92	5.56	1.2	0.21068	.	0.325343	0.22491	N	0.059361	T	0.06280	0.0162	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33420	-0.9869	7	0.21014	T	0.42	.	4.2204	0.10554	0.0809:0.1298:0.4941:0.2952	.	.	.	.	S	2113	ENSP00000334379:P2113S	ENSP00000334379:P2113S	P	-	1	0	C2CD3	73422516	0.041000	0.20044	0.984000	0.44739	0.909000	0.53808	0.208000	0.17415	1.304000	0.44892	-0.284000	0.09977	CCT	C2CD3	-	NULL	ENSG00000168014		0.552	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		-	0.00	28	0	G	NM_015531		73744868	-1	tier1	-	no_errors	ENST00000334126	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.198	A
CA11	770	genome.wustl.edu	37	19	49147703	49147703	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:49147703A>T	ENST00000084798.4	-	3	945	c.266T>A	c.(265-267)cTc>cAc	p.L89H	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	89						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	TCCAGTGCTGAGCCTTAATGG	0.577																																																	0													68.0	60.0	63.0					19																	49147703		2203	4300	6503	SO:0001583	missense	0			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.266T>A	19.37:g.49147703A>T	ENSP00000084798:p.Leu89His		O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L89H	ENST00000084798.4	37	c.266	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122542	0.77436	.	.	ENSG00000063180	ENST00000084798	T	0.71341	-0.56	4.6	4.6	0.57074	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	D	0.84701	0.5530	M	0.87180	2.865	0.45261	D	0.998262	D	0.89917	1.0	D	0.75484	0.986	D	0.87298	0.2303	10	0.87932	D	0	.	12.2336	0.54503	1.0:0.0:0.0:0.0	.	89	O75493	CAH11_HUMAN	H	89	ENSP00000084798:L89H	ENSP00000084798:L89H	L	-	2	0	CA11	53839515	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.377000	0.79668	1.855000	0.53841	0.260000	0.18958	CTC	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.577	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	-	0.00	59	0	A	NM_001217		49147703	-1	tier1	-	no_errors	ENST00000084798	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
CAPN13	92291	genome.wustl.edu	37	2	30954231	30954231	+	Silent	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:30954231T>A	ENST00000295055.8	-	21	2138	c.1962A>T	c.(1960-1962)ggA>ggT	p.G654G	CAPN13_ENST00000534090.2_Silent_p.G654G	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	654	EF-hand 2.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCAGGTAGAGTCCTTTTCCAT	0.547																																																	0													61.0	59.0	60.0					2																	30954231		1924	4122	6046	SO:0001819	synonymous_variant	0				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1962A>T	2.37:g.30954231T>A			Q17RF0|Q580X1|Q8TE80	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.G654	ENST00000295055.8	37	c.1962	CCDS46252.1	2																																																																																			CAPN13	-	NULL	ENSG00000162949		0.547	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	-	0.00	47	0	T	NM_144575		30954231	-1	tier1	-	no_errors	ENST00000295055	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.936	A
CATSPER2	117155	genome.wustl.edu	37	15	43931190	43931190	+	Missense_Mutation	SNP	A	A	C	rs373885397		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:43931190A>C	ENST00000321596.5	-	7	953	c.754T>G	c.(754-756)Ttc>Gtc	p.F252V	CATSPER2_ENST00000354127.4_Missense_Mutation_p.F252V|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Missense_Mutation_p.F252V|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.F258V|CATSPER2_ENST00000396879.1_Missense_Mutation_p.F252V			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	252					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAAATGTAGAAGAAGATGAGC	0.498																																																	0								A	VAL/PHE,VAL/PHE	0,4398		0,0,2199	122.0	96.0	105.0		754,754	4.1	1.0	15		105	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	CATSPER2	NM_054020.2,NM_172095.1	50,50	0,1,6494	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	252/529,252/531	43931190	1,12989	2199	4296	6495	SO:0001583	missense	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.754T>G	15.37:g.43931190A>C	ENSP00000321463:p.Phe252Val		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.F252V	ENST00000321596.5	37	c.754	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078850	0.76528	0.0	1.16E-4	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95	4.13	4.13	0.48395	Ion transport (1);	0.167176	0.39544	N	0.001333	D	0.98188	0.9401	M	0.67569	2.06	0.36484	D	0.868059	D;D	0.58970	0.981;0.984	P;D	0.62955	0.852;0.909	D	0.99936	1.1357	10	0.72032	D	0.01	.	9.7453	0.40442	1.0:0.0:0.0:0.0	.	258;252	F8W9H2;Q96P56	.;CTSR2_HUMAN	V	252;252;258;252;252;252	ENSP00000380088:F252V;ENSP00000371180:F258V;ENSP00000321463:F252V;ENSP00000339137:F252V;ENSP00000347613:F252V	ENSP00000299989:F252V	F	-	1	0	CATSPER2	41718482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.342000	0.43992	1.864000	0.54056	0.369000	0.22263	TTC	CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.498	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0.00	67	0	A	NM_054020		43931190	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	missense	45.10	28	23	SNP	1.000	C
CATSPER2	117155	genome.wustl.edu	37	15	43931194	43931194	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:43931194G>A	ENST00000321596.5	-	7	949	c.750C>T	c.(748-750)atC>atT	p.I250I	CATSPER2_ENST00000354127.4_Silent_p.I250I|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Silent_p.I250I|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.I256I|CATSPER2_ENST00000396879.1_Silent_p.I250I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	250					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGTAGAAGAAGATGAGCAGCA	0.493																																																	0													121.0	95.0	104.0					15																	43931194		2199	4296	6495	SO:0001819	synonymous_variant	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.750C>T	15.37:g.43931194G>A			Q8NHT9|Q96P54|Q96P55	Silent	SNP	pfam_Ion_trans_dom	p.I250	ENST00000321596.5	37	c.750	CCDS10099.1	15																																																																																			CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.493	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0.00	64	0	G	NM_054020		43931194	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	silent	45.10	28	23	SNP	0.997	A
CATSPERD	257062	genome.wustl.edu	37	19	5748202	5748202	+	Silent	SNP	A	A	G	rs371809557		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:5748202A>G	ENST00000381624.3	+	10	901	c.840A>G	c.(838-840)aaA>aaG	p.K280K	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	280					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											GGGTGAAAAAAGGAGACCAGA	0.512																																																	0													105.0	112.0	110.0					19																	5748202		1978	4143	6121	SO:0001819	synonymous_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.840A>G	19.37:g.5748202A>G			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.K280	ENST00000381624.3	37	c.840	CCDS12149.2	19																																																																																			CATSPERD	-	superfamily_WD40_repeat_dom	ENSG00000174898		0.512	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0.00	41	0	A	NM_152784		5748202	+1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.000	G
CBFA2T3	863	genome.wustl.edu	37	16	88945831	88945831	+	Silent	SNP	C	C	T	rs369464938		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:88945831C>T	ENST00000268679.4	-	11	1905	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	CBFA2T3_ENST00000448839.1_Silent_p.S427S|RP11-830F9.5_ENST00000562405.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.S465S|CBFA2T3_ENST00000360302.2_Silent_p.S417S|CBFA2T3_ENST00000327483.5_Silent_p.S417S|RP11-830F9.5_ENST00000569249.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	503	Mediates interaction with PRKAR2A.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCTGCAGCTCCGACATGGCCT	0.652			T	RUNX1	AML								c|||	1	0.000199681	0.0	0.0014	5008	,	,		20957	0.0		0.0	False		,,,				2504	0.0							Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0								C	,	0,4396		0,0,2198	72.0	59.0	63.0		1509,1251	-9.4	0.1	16		63	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	CBFA2T3	NM_005187.5,NM_175931.2	,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,	503/654,417/568	88945831	1,12993	2198	4299	6497	SO:0001819	synonymous_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1509G>A	16.37:g.88945831C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.S503	ENST00000268679.4	37	c.1509	CCDS10972.1	16																																																																																			CBFA2T3	-	prints_ETO	ENSG00000129993		0.652	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0.00	62	0	C	NM_005187		88945831	-1	tier1	-	no_errors	ENST00000268679	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.034	T
CCDC152	100129792	genome.wustl.edu	37	5	42799848	42799848	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:42799848G>T	ENST00000361970.5	+	9	817	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	SEPP1_ENST00000509276.1_5'Flank|CCDC152_ENST00000388827.4_Missense_Mutation_p.G188C	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152	244										endometrium(1)	1						CCTTTCTGTTGGCAAAGATTC	0.348																																																	0													78.0	72.0	74.0					5																	42799848		692	1591	2283	SO:0001583	missense	0				CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.730G>T	5.37:g.42799848G>T	ENSP00000354888:p.Gly244Cys		B3KXI4|B4E0P7|Q5BLP6	Missense_Mutation	SNP	NULL	p.G244C	ENST00000361970.5	37	c.730	CCDS47203.1	5	.	.	.	.	.	.	.	.	.	.	G	11.78	1.742074	0.30865	.	.	ENSG00000198865	ENST00000361970;ENST00000388827	T;T	0.45276	0.9;0.9	5.04	-0.703	0.11261	.	1.252240	0.05213	N	0.507187	T	0.35189	0.0923	L	0.45581	1.43	0.09310	N	1	P;B	0.49253	0.921;0.001	B;B	0.43331	0.416;0.007	T	0.29701	-1.0003	10	0.33940	T	0.23	-1.3534	4.1599	0.10278	0.3061:0.0:0.4388:0.255	.	188;244	B4E0P7;Q4G0S7	.;CC152_HUMAN	C	244;188	ENSP00000354888:G244C;ENSP00000373479:G188C	ENSP00000354888:G244C	G	+	1	0	CCDC152	42835605	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	-0.101000	0.10973	0.108000	0.17862	0.591000	0.81541	GGC	CCDC152	-	NULL	ENSG00000198865		0.348	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC152	HGNC	protein_coding	OTTHUMT00000367497.1	-	0.00	89	0	G	XM_001717416		42799848	+1	tier1	-	no_errors	ENST00000361970	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.000	T
CD3EAP	10849	genome.wustl.edu	37	19	45911841	45911841	+	Silent	SNP	G	G	T	rs77680493		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:45911841G>T	ENST00000309424.3	+	3	1103	c.615G>T	c.(613-615)tcG>tcT	p.S205S	ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_Silent_p.S207S|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	205					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CTTTGGGGTCGCCAGAAATGG	0.562																																																	0													51.0	59.0	56.0					19																	45911841		2203	4300	6503	SO:0001819	synonymous_variant	0			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.615G>T	19.37:g.45911841G>T			Q32N11|Q7Z5U2|Q9UPF6	Silent	SNP	pfam_DNA-dir_RNA_pol1_su_RPA34	p.S207	ENST00000309424.3	37	c.621	CCDS12661.1	19																																																																																			CD3EAP	-	pfam_DNA-dir_RNA_pol1_su_RPA34	ENSG00000117877		0.562	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1	-	0.00	40	0	G	NM_012099		45911841	+1	tier1	-	no_errors	ENST00000589804	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.000	T
CDH11	1009	genome.wustl.edu	37	16	65032732	65032732	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:65032732C>G	ENST00000268603.4	-	4	871	c.256G>C	c.(256-258)Ggg>Cgg	p.G86R	CDH11_ENST00000394156.3_Missense_Mutation_p.G86R|CDH11_ENST00000566827.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	86	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)		TTAATGTTCCCATCACCAGAG	0.408			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													101.0	86.0	91.0					16																	65032732		2202	4300	6502	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.256G>C	16.37:g.65032732C>G	ENSP00000268603:p.Gly86Arg		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.G86R	ENST00000268603.4	37	c.256	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559363	0.86335	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.53423	0.62;0.62	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76350	0.3975	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.76071	0.987;0.926	T	0.81462	-0.0922	10	0.87932	D	0	.	18.7605	0.91849	0.0:1.0:0.0:0.0	.	86;86	P55287-2;P55287	.;CAD11_HUMAN	R	86;86;69;86	ENSP00000268603:G86R;ENSP00000377711:G86R	ENSP00000268603:G86R	G	-	1	0	CDH11	63590233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.758000	0.94735	0.563000	0.77884	GGG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.408	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0.00	21	0	C	NM_033664		65032732	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	62.50	6	10	SNP	1.000	G
CHAC2	494143	genome.wustl.edu	37	2	54001511	54001511	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:54001511C>T	ENST00000295304.4	+	3	499	c.404C>T	c.(403-405)gCt>gTt	p.A135V	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000263634.3_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	135										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTAATGCAGCTGGTCCAAGT	0.373																																																	0													103.0	101.0	102.0					2																	54001511		2203	4300	6503	SO:0001583	missense	0			BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 2"""		"""ChaC, cation transport regulator-like 2 (E. coli)"""			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.404C>T	2.37:g.54001511C>T	ENSP00000295304:p.Ala135Val		Q8WVI8	Missense_Mutation	SNP	pfam_ChaC	p.A135V	ENST00000295304.4	37	c.404	CCDS33196.1	2	.	.	.	.	.	.	.	.	.	.	C	9.373	1.070946	0.20147	.	.	ENSG00000143942	ENST00000295304	T	0.42131	0.98	5.92	1.11	0.20524	Butirosin biosynthesis, BtrG-like (1);	0.440230	0.27193	N	0.020487	T	0.12860	0.0312	N	0.01410	-0.885	0.28939	N	0.891079	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.08179	T	0.78	-3.2548	9.9206	0.41462	0.0:0.5021:0.0:0.4979	.	135	Q8WUX2	CHAC2_HUMAN	V	135	ENSP00000295304:A135V	ENSP00000295304:A135V	A	+	2	0	CHAC2	53855015	0.935000	0.31712	1.000000	0.80357	0.994000	0.84299	0.805000	0.27112	0.423000	0.26033	-0.136000	0.14681	GCT	CHAC2	-	pfam_ChaC	ENSG00000143942		0.373	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAC2	HGNC	protein_coding	OTTHUMT00000324072.1	-	0.00	56	0	C	NM_001008708		54001511	+1	tier1	-	no_errors	ENST00000295304	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.964	T
CHAT	1103	genome.wustl.edu	37	10	50833616	50833616	+	Missense_Mutation	SNP	G	G	A	rs146236256		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:50833616G>A	ENST00000337653.2	+	6	1003	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	CHAT_ENST00000455728.2_Missense_Mutation_p.G166S|CHAT_ENST00000351556.3_Missense_Mutation_p.G166S|CHAT_ENST00000395562.2_Missense_Mutation_p.G202S|CHAT_ENST00000339797.1_Missense_Mutation_p.G166S|CHAT_ENST00000395559.2_Missense_Mutation_p.G166S	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	284					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCGGCTCCCCGGCCATACCCA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20696	0.0		0.0	False		,,,				2504	0.001																0								G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	46.0	35.0	38.0		496,604,496,850,496,496,496	5.2	0.8	10	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	56,56,56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	166/631,202/667,166/631,284/749,166/631,166/631,166/631	50833616	1,13005	2203	4300	6503	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.850G>A	10.37:g.50833616G>A	ENSP00000337103:p.Gly284Ser		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G284S	ENST00000337653.2	37	c.850	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486814	0.84854	0.0	1.16E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.96589	0.8887	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.975;0.981	D	0.97201	0.9864	10	0.87932	D	0	-30.9801	18.8	0.92013	0.0:0.0:1.0:0.0	.	166;284	F8W8I2;P28329	.;CLAT_HUMAN	S	166;166;166;284;202;166	ENSP00000343486:G166S;ENSP00000345878:G166S;ENSP00000378926:G166S;ENSP00000337103:G284S;ENSP00000378929:G202S;ENSP00000390521:G166S	ENSP00000337103:G284S	G	+	1	0	CHAT	50503622	1.000000	0.71417	0.836000	0.33094	0.196000	0.23810	9.852000	0.99516	2.439000	0.82584	0.411000	0.27672	GGC	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0.00	39	0	G	NM_020549		50833616	+1	tier1	rs146236256	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A
CHD5	26038	genome.wustl.edu	37	1	6188230	6188230	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:6188230G>A	ENST00000262450.3	-	25	3878	c.3779C>T	c.(3778-3780)gCg>gTg	p.A1260V	CHD5_ENST00000378021.1_Missense_Mutation_p.A117V	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGGCCGCATCGTCATA	0.572																																																	0													182.0	133.0	150.0					1																	6188230		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3779C>T	1.37:g.6188230G>A	ENSP00000262450:p.Ala1260Val		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1260V	ENST00000262450.3	37	c.3779	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581017	0.65992	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.91295	-2.82;2.13	4.29	4.29	0.51040	.	0.156294	0.41938	D	0.000787	D	0.83496	0.5267	L	0.35414	1.06	0.38108	D	0.937489	B;B	0.31581	0.329;0.189	B;B	0.17433	0.013;0.018	D	0.84940	0.0865	10	0.52906	T	0.07	-21.5698	12.5963	0.56472	0.0:0.1676:0.8324:0.0	.	1260;117	Q8TDI0;Q5TG85	CHD5_HUMAN;.	V	1260;776;117;668;668;117	ENSP00000262450:A1260V;ENSP00000367260:A117V	ENSP00000262450:A1260V	A	-	2	0	CHD5	6110817	0.992000	0.36948	0.992000	0.48379	0.945000	0.59286	4.417000	0.59822	2.089000	0.63090	0.462000	0.41574	GCG	CHD5	-	NULL	ENSG00000116254		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2		0.00	43	0	G	NM_015557		6188230	-1			no_errors	ENST00000262450	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.908	A
CHGA	1113	genome.wustl.edu	37	14	93397759	93397761	+	In_Frame_Del	DEL	GAG	GAG	-	rs145227561		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:93397759_93397761delGAG	ENST00000216492.5	+	6	800_802	c.520_522delGAG	c.(520-522)gagdel	p.E179del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	179					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGGggaggaagaggaggaggagg	0.665																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0																																										SO:0001651	inframe_deletion	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.520_522delGAG	14.37:g.93397768_93397770delGAG	ENSP00000216492:p.Glu179del		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	pfam_Granin,prints_Chromogranin_AB	p.E177in_frame_del	ENST00000216492.5	37	c.520_522	CCDS9906.1	14																																																																																			CHGA	-	pfam_Granin	ENSG00000100604		0.665	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1		0.00	58	0	GAG	NM_001275		93397761	+1			no_errors	ENST00000216492	ensembl	human	known	74_37	in_frame_del	6.76	69	5	DEL	0.168:0.190:0.200	0
CHRNB1	1140	genome.wustl.edu	37	17	7351982	7351982	+	Missense_Mutation	SNP	G	G	A	rs202080837		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:7351982G>A	ENST00000306071.2	+	7	762	c.695G>A	c.(694-696)cGc>cAc	p.R232H	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_Missense_Mutation_p.R160H|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R160H	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	232					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GAAGGACAGCGCCAGGAAGTC	0.562																																																	0													216.0	149.0	172.0					17																	7351982		2203	4300	6503	SO:0001583	missense	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.695G>A	17.37:g.7351982G>A	ENSP00000304290:p.Arg232His		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R232H	ENST00000306071.2	37	c.695	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	G	8.288	0.817019	0.16607	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.77750	-1.12;-1.12	5.24	-5.75	0.02384	Neurotransmitter-gated ion-channel ligand-binding (3);	0.554792	0.21009	N	0.081711	T	0.51500	0.1678	N	0.10972	0.075	0.39445	D	0.96731	B	0.10296	0.003	B	0.06405	0.002	T	0.01666	-1.1300	10	0.44086	T	0.13	.	8.5721	0.33576	0.6193:0.0:0.2692:0.1115	.	232	P11230	ACHB_HUMAN	H	232;160	ENSP00000304290:R232H;ENSP00000439209:R160H	ENSP00000304290:R232H	R	+	2	0	CHRNB1	7292706	0.149000	0.22717	0.000000	0.03702	0.028000	0.11728	-1.179000	0.03090	-1.548000	0.01712	-0.291000	0.09656	CGC	CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000170175		0.562	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	-	0.00	38	0	G			7351982	+1	tier1	rs202080837	no_errors	ENST00000306071	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.016	A
CHST10	9486	genome.wustl.edu	37	2	101014407	101014407	+	Silent	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:101014407G>T	ENST00000264249.3	-	5	775	c.390C>A	c.(388-390)ggC>ggA	p.G130G	CHST10_ENST00000542617.1_Silent_p.G178G|CHST10_ENST00000409701.1_Silent_p.G130G	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	130					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ACTGGGTGTTGCCCACTTTGG	0.502																																																	0													138.0	129.0	132.0					2																	101014407		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.390C>A	2.37:g.101014407G>T			Q53T18	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.G178	ENST00000264249.3	37	c.534	CCDS2047.1	2																																																																																			CHST10	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000115526		0.502	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	-	0.00	51	0	G	NM_004854		101014407	-1	tier1	-	no_errors	ENST00000542617	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T
CHTF18	63922	genome.wustl.edu	37	16	845705	845705	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:845705G>A	ENST00000262315.9	+	17	2259	c.2196G>A	c.(2194-2196)caG>caA	p.Q732Q	CHTF18_ENST00000455171.2_Silent_p.Q760Q|CHTF18_ENST00000317063.6_Silent_p.Q941Q	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	732					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGATGAGCCAGATGAGGAACC	0.726																																																	0													15.0	19.0	17.0					16																	845705		2066	4175	6241	SO:0001819	synonymous_variant	0			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2196G>A	16.37:g.845705G>A			B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q941	ENST00000262315.9	37	c.2823	CCDS45371.1	16																																																																																			CHTF18	-	NULL	ENSG00000127586		0.726	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	-	0.00	27	0	G	NM_022092		845705	+1	tier1	-	no_errors	ENST00000317063	ensembl	human	known	74_37	silent	66.67	7	14	SNP	0.721	A
CLCN7	1186	genome.wustl.edu	37	16	1500530	1500530	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:1500530C>T	ENST00000382745.4	-	17	2190	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	CLCN7_ENST00000448525.1_Missense_Mutation_p.G505R|CLCN7_ENST00000262318.8_Missense_Mutation_p.G505R|LA16c-390E6.4_ENST00000563610.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	529					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGGGAGATCCCAAAGAGCCGG	0.701																																																	0													27.0	31.0	30.0					16																	1500530		2166	4290	6456	SO:0001583	missense	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1585G>A	16.37:g.1500530C>T	ENSP00000372193:p.Gly529Arg		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.G529R	ENST00000382745.4	37	c.1585	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977906	0.92982	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D;D	0.96136	-3.92;-3.79;-3.92	4.48	4.48	0.54585	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98576	0.9524	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99780	1.1027	10	0.87932	D	0	-33.0997	16.0742	0.80958	0.0:1.0:0.0:0.0	.	505;529	E9PDB9;P51798	.;CLCN7_HUMAN	R	505;482;529;471	ENSP00000410907:G505R;ENSP00000262318:G482R;ENSP00000372193:G529R	ENSP00000262318:G482R	G	-	1	0	CLCN7	1440531	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.634000	0.83273	2.194000	0.70268	0.462000	0.41574	GGG	CLCN7	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000103249		0.701	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0.00	85	0	C	NM_001287		1500530	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	42.86	48	36	SNP	1.000	T
CIAPIN1	57019	genome.wustl.edu	37	16	57463119	57463119	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:57463119T>C	ENST00000569979.1	-	6	750	c.704A>G	c.(703-705)aAg>aGg	p.K235R	CIAPIN1_ENST00000568940.1_Silent_p.K262K|CIAPIN1_ENST00000569246.1_5'Flank|CIAPIN1_ENST00000569370.1_Silent_p.K262K|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.K301R|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.K288R|CIAPIN1_ENST00000565961.1_Silent_p.K235K					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CAGAAGCACCTTTTCCCCAGG	0.567																																																	0													74.0	74.0	74.0					16																	57463119		2007	4181	6188	SO:0001583	missense	0			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.704A>G	16.37:g.57463119T>C	ENSP00000458000:p.Lys235Arg			Missense_Mutation	SNP	pfam_Anamorsin	p.K301R	ENST00000569979.1	37	c.902		16	.	.	.	.	.	.	.	.	.	.	T	28.1	4.890896	0.91889	.	.	ENSG00000005194	ENST00000394391	T	0.36520	1.25	4.73	4.73	0.59995	.	0.330767	0.34178	N	0.004198	T	0.48840	0.1522	M	0.82517	2.595	0.44214	D	0.997046	P;P	0.39326	0.668;0.477	B;B	0.43867	0.434;0.371	T	0.56183	-0.8021	10	0.54805	T	0.06	-0.4465	13.7132	0.62680	0.0:0.0:0.0:1.0	.	288;301	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	R	301	ENSP00000377914:K301R	ENSP00000377914:K301R	K	-	2	0	CIAPIN1	56020620	1.000000	0.71417	0.922000	0.36590	0.942000	0.58702	5.597000	0.67577	1.903000	0.55091	0.459000	0.35465	AAG	CIAPIN1	-	pfam_Anamorsin	ENSG00000005194		0.567	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	CIAPIN1	HGNC	protein_coding	OTTHUMT00000432580.1	-	0.00	32	0	T	NM_020313		57463119	-1	tier1	-	no_errors	ENST00000394391	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	C
CNOT7	29883	genome.wustl.edu	37	8	17092319	17092319	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:17092319G>A	ENST00000361272.4	-	5	822	c.524C>T	c.(523-525)cCt>cTt	p.P175L	CNOT7_ENST00000523917.1_Missense_Mutation_p.P175L	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	175					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TTCTTCTTCAGGCAAGTTAGA	0.348																																																	0													102.0	98.0	100.0					8																	17092319		2203	4300	6503	SO:0001583	missense	0			L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.524C>T	8.37:g.17092319G>A	ENSP00000355279:p.Pro175Leu		A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.P175L	ENST00000361272.4	37	c.524	CCDS6000.2	8	.	.	.	.	.	.	.	.	.	.	G	33	5.274220	0.95459	.	.	ENSG00000198791	ENST00000361272;ENST00000523917	T;T	0.81078	-1.45;-1.45	5.33	5.33	0.75918	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.92450	0.7603	H	0.95950	3.745	0.80722	D	1	P;D	0.59357	0.949;0.985	P;P	0.58873	0.646;0.847	D	0.94222	0.7468	10	0.87932	D	0	-9.9386	19.9159	0.97061	0.0:0.0:1.0:0.0	.	175;175	G3V108;Q9UIV1	.;CNOT7_HUMAN	L	175	ENSP00000355279:P175L;ENSP00000429093:P175L	ENSP00000355279:P175L	P	-	2	0	CNOT7	17136690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	CCT	CNOT7	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000198791		0.348	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT7	HGNC	protein_coding	OTTHUMT00000214038.1	-	0.00	46	0	G	NM_013354		17092319	-1	tier1	-	no_errors	ENST00000361272	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	A
CNTNAP5	129684	genome.wustl.edu	37	2	125521620	125521620	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:125521620C>T	ENST00000431078.1	+	16	2790	c.2426C>T	c.(2425-2427)gCg>gTg	p.A809V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	809	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCTTCCATGCGGAATTCAGT	0.403																																																	0													140.0	130.0	133.0					2																	125521620		1833	4092	5925	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2426C>T	2.37:g.125521620C>T	ENSP00000399013:p.Ala809Val		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A809V	ENST00000431078.1	37	c.2426	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214939	0.58452	.	.	ENSG00000155052	ENST00000431078	T	0.52983	0.64	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.264897	0.26000	N	0.026951	T	0.41419	0.1158	L	0.31420	0.93	0.49389	D	0.999781	B	0.11235	0.004	B	0.06405	0.002	T	0.13308	-1.0514	10	0.49607	T	0.09	.	19.2581	0.93955	0.0:1.0:0.0:0.0	.	809	Q8WYK1	CNTP5_HUMAN	V	809	ENSP00000399013:A809V	ENSP00000399013:A809V	A	+	2	0	CNTNAP5	125238090	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.250000	0.51445	2.804000	0.96469	0.655000	0.94253	GCG	CNTNAP5	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000155052		0.403	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	75	0	C			125521620	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	34.69	32	17	SNP	0.991	T
COL12A1	1303	genome.wustl.edu	37	6	75831041	75831041	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:75831041C>A	ENST00000322507.8	-	44	7372	c.7063G>T	c.(7063-7065)Gaa>Taa	p.E2355*	COL12A1_ENST00000345356.6_Nonsense_Mutation_p.E1191*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.E2355*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.E2355*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2355	VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGACTGATTTCATCAAAGCCT	0.408																																																	0													87.0	86.0	87.0					6																	75831041		1927	4123	6050	SO:0001587	stop_gained	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7063G>T	6.37:g.75831041C>A	ENSP00000325146:p.Glu2355*		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E2355*	ENST00000322507.8	37	c.7063	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	48	13.899233	0.99769	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.	.	.	5.76	4.88	0.63580	.	0.257228	0.32852	N	0.005577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	10.0029	0.41940	0.165:0.679:0.156:0.0	.	.	.	.	X	2355;2355;1191;2355;2355	.	ENSP00000325146:E2355X	E	-	1	0	COL12A1	75887761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.163000	0.42377	2.718000	0.92993	0.655000	0.94253	GAA	COL12A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000111799		0.408	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0.00	68	0	C	NM_004370		75831041	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	nonsense	28.92	59	24	SNP	0.997	A
COL4A5	1287	genome.wustl.edu	37	X	107783031	107783031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:107783031delA	ENST00000361603.2	+	2	381	c.137delA	c.(136-138)gaafs	p.E46fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E46fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	46	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATAAAAGGGGAAAAGGTGAGG	0.348									Alport syndrome with Diffuse Leiomyomatosis																																								0													137.0	124.0	128.0					X																	107783031		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.137delA	X.37:g.107783031delA	ENSP00000354505:p.Glu46fs		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.K47fs	ENST00000361603.2	37	c.137	CCDS14543.1	X																																																																																			COL4A5	-	NULL	ENSG00000188153		0.348	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2		0.00	25	0	A			107783031	+1	tier1		no_errors	ENST00000328300	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-
COL5A1	1289	genome.wustl.edu	37	9	137710737	137710737	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:137710737C>T	ENST00000371817.3	+	56	4796	c.4382C>T	c.(4381-4383)cCc>cTc	p.P1461L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1461	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACGGTCCCCCCGGCCCCATG	0.627																																																	0													49.0	49.0	49.0					9																	137710737		2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4382C>T	9.37:g.137710737C>T	ENSP00000360882:p.Pro1461Leu		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P1461L	ENST00000371817.3	37	c.4382	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840466	0.71488	.	.	ENSG00000130635	ENST00000371817	D	0.97066	-4.23	4.69	4.69	0.59074	.	0.000000	0.85682	U	0.000000	D	0.98639	0.9544	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99847	1.1067	10	0.87932	D	0	.	17.6063	0.88039	0.0:1.0:0.0:0.0	.	1461	P20908	CO5A1_HUMAN	L	1461	ENSP00000360882:P1461L	ENSP00000360882:P1461L	P	+	2	0	COL5A1	136850558	1.000000	0.71417	0.949000	0.38748	0.849000	0.48306	7.714000	0.84703	2.150000	0.67090	0.448000	0.29417	CCC	COL5A1	-	NULL	ENSG00000130635		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	66	0	C	NM_000093		137710737	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	20.22	71	18	SNP	1.000	T
COL9A3	1299	genome.wustl.edu	37	20	61468375	61468375	+	Intron	SNP	G	G	A	rs563700285		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:61468375G>A	ENST00000343916.3	+	30	1606				COL9A3_ENST00000462700.1_Intron	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TATGCTTTACGTAACAATACT	0.433																																																	0																																										SO:0001627	intron_variant	0			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1604-60G>A	20.37:g.61468375G>A			Q13681|Q9H4G9|Q9UPE2	RNA	SNP	-	NULL	ENST00000343916.3	37	NULL	CCDS13505.1	20																																																																																			COL9A3	-	-	ENSG00000092758		0.433	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	-	0.00	54	0	G	NM_001853		61468375	+1	tier1	-	no_errors	ENST00000466532	ensembl	human	putative	74_37	rna	38.60	35	22	SNP	0.000	A
CPNE5	57699	genome.wustl.edu	37	6	36762394	36762394	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:36762394C>T	ENST00000244751.2	-	7	1061	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	146						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATGGGTTTGCCCGTCCTGGA	0.597																																																	0													111.0	83.0	92.0					6																	36762394		2203	4300	6503	SO:0001583	missense	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.437G>A	6.37:g.36762394C>T	ENSP00000244751:p.Gly146Asp		Q7Z6C8	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.G146D	ENST00000244751.2	37	c.437	CCDS4825.1	6	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918924	0.52546	.	.	ENSG00000124772	ENST00000244751	T	0.05513	3.43	4.78	4.78	0.61160	.	0.168022	0.36778	N	0.002419	T	0.01523	0.0049	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45571	-0.9252	10	0.72032	D	0.01	.	13.1814	0.59657	0.0:1.0:0.0:0.0	.	146	Q9HCH3	CPNE5_HUMAN	D	146	ENSP00000244751:G146D	ENSP00000244751:G146D	G	-	2	0	CPNE5	36870372	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.680000	0.54641	2.477000	0.83638	0.655000	0.94253	GGC	CPNE5	-	NULL	ENSG00000124772		0.597	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	-	0.00	39	0	C	NM_020939		36762394	-1	tier1	-	no_errors	ENST00000244751	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T
CPSF6	11052	genome.wustl.edu	37	12	69652800	69652800	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:69652800C>T	ENST00000435070.2	+	6	1235	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	CPSF6_ENST00000456847.3_Silent_p.S302S|CPSF6_ENST00000266679.8_Silent_p.S412S|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	375	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CATCAGATAGCCGAGGTCCAC	0.542																																																	0													100.0	101.0	100.0					12																	69652800		2203	4300	6503	SO:0001819	synonymous_variant	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1125C>T	12.37:g.69652800C>T			A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S412	ENST00000435070.2	37	c.1236	CCDS8988.1	12																																																																																			CPSF6	-	NULL	ENSG00000111605		0.542	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	-	0.00	31	0	C	NM_007007		69652800	+1	tier1	-	no_errors	ENST00000266679	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.901	T
CRELD2	79174	genome.wustl.edu	37	22	50320932	50320932	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:50320932C>T	ENST00000328268.4	+	10	1113	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	CRELD2_ENST00000403427.3_Silent_p.L319L|CRELD2_ENST00000404488.3_Silent_p.L396L|CRELD2_ENST00000407217.3_Silent_p.L315L	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	347						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGACACAGCTGCCCTCCCG	0.547																																																	0													135.0	138.0	137.0					22																	50320932		2202	4299	6501	SO:0001819	synonymous_variant	0			BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.1039C>T	22.37:g.50320932C>T			A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L396	ENST00000328268.4	37	c.1186	CCDS14082.1	22																																																																																			CRELD2	-	NULL	ENSG00000184164		0.547	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CRELD2	HGNC	protein_coding	OTTHUMT00000317409.1		0.00	34	0	C	NM_024324		50320932	+1			no_errors	ENST00000404488	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.000	T
CSHL1	1444	genome.wustl.edu	37	17	61987063	61987063	+	IGR	SNP	G	G	A	rs201765189	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:61987063G>A	ENST00000309894.5	-	0	669				CSHL1_ENST00000346606.6_3'UTR|CSHL1_ENST00000259003.10_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000438387.2_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_3'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						AGGATGCCACGCGGGCCCCTA	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		15851	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001628	intergenic_variant	0			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406			17.37:g.61987063G>A			D3DU26|D3DU27|Q0VDB2	RNA	SNP	-	NULL	ENST00000309894.5	37	NULL	CCDS11652.1	17																																																																																			CSHL1	-	-	ENSG00000204414		0.577	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	HGNC	protein_coding	OTTHUMT00000444557.1	-	0.00	86	0	G	NM_022579		61987063	-1	tier1	-	no_errors	ENST00000558099	ensembl	human	known	74_37	rna	29.36	77	32	SNP	0.011	A
CSMD1	64478	genome.wustl.edu	37	8	2824141	2824141	+	Frame_Shift_Del	DEL	C	C	-	rs567795988		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:2824141delC	ENST00000520002.1	-	59	9609	c.9054delG	c.(9052-9054)cggfs	p.R3018fs	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.R3018fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.R3017fs|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3018	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGTGCAATGCCGTGTCATGA	0.512																																																	0													68.0	71.0	70.0					8																	2824141		2077	4222	6299	SO:0001589	frameshift_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9054delG	8.37:g.2824141delC	ENSP00000430733:p.Arg3018fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3019fs	ENST00000520002.1	37	c.9054		8																																																																																			CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0.00	45	0	C	NM_033225		2824141	-1	tier1		no_errors	ENST00000520002	ensembl	human	known	74_37	frame_shift_del	33.33	28	14	DEL	0.192	-
CT47B1	643311	genome.wustl.edu	37	X	120009285	120009285	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:120009285G>A	ENST00000371311.3	-	1	494	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	80										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTCGGCGCTCCCGCCCT	0.721																																																	0													15.0	19.0	18.0					X																	120009285		691	1582	2273	SO:0001819	synonymous_variant	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.240C>T	X.37:g.120009285G>A			A6NM97	Silent	SNP	NULL	p.S80	ENST00000371311.3	37	c.240	CCDS48161.1	X																																																																																			CT47B1	-	NULL	ENSG00000236446		0.721	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	-	0.00	44	0	G	NM_001145718		120009285	-1	tier1	-	no_errors	ENST00000371311	ensembl	human	known	74_37	silent	98.57	1	69	SNP	0.001	A
CTPS1	1503	genome.wustl.edu	37	1	41448956	41448956	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:41448956G>A	ENST00000543104.1	+	2	65	c.15G>A	c.(13-15)aaG>aaA	p.K5K	CTPS1_ENST00000475060.1_3'UTR|CTPS1_ENST00000372616.1_5'UTR|CTPS1_ENST00000372621.4_5'UTR|CTPS1_ENST00000541520.1_Intron					CTP synthase 1											endometrium(3)|lung(10)	13						CCAGGTCAAAGAGTAAAATGA	0.383																																																	0													98.0	95.0	96.0					1																	41448956		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000543104.1:c.15G>A	1.37:g.41448956G>A				Silent	SNP	pfam_CTP_synthase_N,superfamily_P-loop_NTPase	p.K5	ENST00000543104.1	37	c.15		1																																																																																			CTPS1	-	NULL	ENSG00000171793		0.383	CTPS1-202	KNOWN	basic	protein_coding	CTPS1	HGNC	protein_coding		-	0.00	52	0	G	NM_001905		41448956	+1	tier1	-	no_errors	ENST00000543104	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.130	A
DDAH1	23576	genome.wustl.edu	37	1	85824494	85824494	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:85824494G>T	ENST00000284031.8	-	2	434	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	DDAH1_ENST00000483110.1_5'UTR|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.L114I|DDAH1_ENST00000542148.1_Missense_Mutation_p.L14I|DDAH1_ENST00000426972.3_Missense_Mutation_p.L21I|DDAH1_ENST00000535924.2_Missense_Mutation_p.L11I|RP11-131L23.1_ENST00000427819.1_RNA	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	114					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ACTATATTGAGCTGAAGTTTT	0.289																																																	0													128.0	130.0	129.0					1																	85824494		2202	4298	6500	SO:0001583	missense	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.340C>A	1.37:g.85824494G>T	ENSP00000284031:p.Leu114Ile		Q5HYC8|Q86XK5	Missense_Mutation	SNP	pfam_Amidino_trans	p.L114I	ENST00000284031.8	37	c.340	CCDS705.1	1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508319	0.64410	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.26	4.35	0.52113	.	0.217591	0.39985	N	0.001220	T	0.43255	0.1239	L	0.52126	1.63	0.50632	D	0.999885	B;B	0.20052	0.002;0.041	B;B	0.41036	0.12;0.346	T	0.38650	-0.9651	9	0.07990	T	0.79	-6.5555	9.8687	0.41160	0.1649:0.0:0.8351:0.0	.	14;114	B4DYP1;O94760	.;DDAH1_HUMAN	I	114;114;11;21;14	.	ENSP00000284031:L114I	L	-	1	0	DDAH1	85597082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.166000	0.58203	1.226000	0.43582	0.563000	0.77884	CTC	DDAH1	-	pfam_Amidino_trans	ENSG00000153904		0.289	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1		0.00	28	0	G			85824494	-1			no_errors	ENST00000284031	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T
DGKB	1607	genome.wustl.edu	37	7	14722292	14722292	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:14722292G>A	ENST00000403951.2	-	12	1340	c.921C>T	c.(919-921)gtC>gtT	p.V307V	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Silent_p.V307V|DGKB_ENST00000399322.3_Silent_p.V307V|DGKB_ENST00000407950.1_Silent_p.V300V|DGKB_ENST00000444700.2_Silent_p.V300V|DGKB_ENST00000258767.5_Silent_p.V307V|DGKB_ENST00000406247.3_Silent_p.V307V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	307					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AATGGTGCATGACCTAGAACA	0.428																																																	0													166.0	157.0	160.0					7																	14722292		2057	4209	6266	SO:0001819	synonymous_variant	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.921C>T	7.37:g.14722292G>A			A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V307	ENST00000403951.2	37	c.921	CCDS47547.1	7																																																																																			DGKB	-	NULL	ENSG00000136267		0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0.00	61	0	G	NM_004080		14722292	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	silent	20.22	71	18	SNP	0.990	A
DIS3L2	129563	genome.wustl.edu	37	2	232952395	232952395	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:232952395G>T	ENST00000409307.1	+	5	565	c.565G>T	c.(565-567)Ggt>Tgt	p.G189C	DIS3L2_ENST00000325385.7_Missense_Mutation_p.G189C|DIS3L2_ENST00000273009.6_Missense_Mutation_p.G189C|DIS3L2_ENST00000409401.3_Missense_Mutation_p.G189C|DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Missense_Mutation_p.G189C					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCTGGTTGATGGTGTTAAGAA	0.388																																																	0													67.0	68.0	68.0					2																	232952395		2001	4185	6186	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.565G>T	2.37:g.232952395G>T	ENSP00000386799:p.Gly189Cys			Missense_Mutation	SNP	NULL	p.G189C	ENST00000409307.1	37	c.565	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933759	0.73442	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000431466;ENST00000409307	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.65	4.76	0.60689	.	0.250705	0.33515	N	0.004834	T	0.37210	0.0995	L	0.36672	1.1	0.23859	N	0.996644	B;P	0.41102	0.012;0.738	B;B	0.36808	0.01;0.233	T	0.42916	-0.9423	10	0.56958	D	0.05	-9.8991	13.3017	0.60328	0.0745:0.0:0.9255:0.0	.	189;189	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	C	189	ENSP00000273009:G189C;ENSP00000315569:G189C;ENSP00000353584:G189C;ENSP00000386594:G189C;ENSP00000386799:G189C	ENSP00000273009:G189C	G	+	1	0	DIS3L2	232660639	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	3.603000	0.54074	2.674000	0.91012	0.655000	0.94253	GGT	DIS3L2	-	NULL	ENSG00000144535		0.388	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	-	0.00	43	0	G	NM_152383		232952395	+1	tier1	-	no_errors	ENST00000325385	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.748	T
DKC1	1736	genome.wustl.edu	37	X	154005130	154005130	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:154005130G>A	ENST00000369550.5	+	15	1743	c.1533G>A	c.(1531-1533)ttG>ttA	p.L511L	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	511	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGTAGAATTGGTTTCTGAGT	0.393									Congenital Dyskeratosis																																								0													102.0	83.0	89.0					X																	154005130		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1533G>A	X.37:g.154005130G>A			F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451	p.L511	ENST00000369550.5	37	c.1533	CCDS14761.1	X																																																																																			DKC1	-	NULL	ENSG00000130826		0.393	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	-	0.00	27	0	G	NM_001363		154005130	+1	tier1	-	no_errors	ENST00000369550	ensembl	human	known	74_37	silent	43.86	32	25	SNP	0.000	A
DKK4	27121	genome.wustl.edu	37	8	42231698	42231698	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:42231698C>T	ENST00000220812.2	-	4	781	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	199	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.G199R(1)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CACAGTAGTCCAGGGCCACAG	0.448																																																	1	Substitution - Missense(1)	NS(1)											91.0	91.0	91.0					8																	42231698		2203	4300	6503	SO:0001583	missense	0			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.595G>A	8.37:g.42231698C>T	ENSP00000220812:p.Gly199Arg		Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.G199R	ENST00000220812.2	37	c.595	CCDS6130.1	8	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964955	0.53507	.	.	ENSG00000104371	ENST00000220812	D	0.84660	-1.88	6.03	5.16	0.70880	Prokineticin domain (2);	0.000000	0.64402	D	0.000012	D	0.86502	0.5948	L	0.56769	1.78	0.53005	D	0.999965	P	0.47350	0.894	P	0.49502	0.613	D	0.87404	0.2371	10	0.66056	D	0.02	-4.6519	13.1371	0.59415	0.0:0.9233:0.0:0.0767	.	199	Q9UBT3	DKK4_HUMAN	R	199	ENSP00000220812:G199R	ENSP00000220812:G199R	G	-	1	0	DKK4	42350855	0.991000	0.36638	0.820000	0.32676	0.356000	0.29392	2.668000	0.46816	1.563000	0.49615	0.655000	0.94253	GGA	DKK4	-	pfam_Prokineticin_domain	ENSG00000104371		0.448	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1		0.00	35	0	C			42231698	-1			no_errors	ENST00000220812	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51839582	51839582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:51839582C>T	ENST00000251076.5	-	7	878	c.591G>A	c.(589-591)tgG>tgA	p.W197*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W197*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W197*|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	197						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.W197C(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCATAGGATACCACACTTTCA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											77.0	76.0	76.0					15																	51839582		2195	4293	6488	SO:0001587	stop_gained	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.591G>A	15.37:g.51839582C>T	ENSP00000251076:p.Trp197*		B2RTR3|B7ZMH3|F5GWF1|O94938	Nonsense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W197*	ENST00000251076.5	37	c.591	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467836	0.84533	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3281	0.94270	0.0:1.0:0.0:0.0	.	.	.	.	X	197	.	ENSP00000251076:W197X	W	-	3	0	DMXL2	49626874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.398000	0.79919	2.588000	0.87417	0.585000	0.79938	TGG	DMXL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000104093		0.313	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0.00	26	0	C	NM_015263		51839582	-1			no_errors	ENST00000543779	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21583082	21583082	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:21583082G>A	ENST00000409508.3	+	1	250	c.219G>A	c.(217-219)acG>acA	p.T73T	DNAH11_ENST00000328843.6_Silent_p.T73T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	73	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGGGTTCACGGAGGAGAAAT	0.627									Kartagener syndrome																																								0													27.0	32.0	30.0					7																	21583082		1936	4120	6056	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.219G>A	7.37:g.21583082G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T73	ENST00000409508.3	37	c.219		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.627	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	70	0	G	NM_003777		21583082	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	19.59	78	19	SNP	0.709	A
DNAH3	55567	genome.wustl.edu	37	16	20996802	20996802	+	Missense_Mutation	SNP	C	C	T	rs200916697		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:20996802C>T	ENST00000261383.3	-	48	7261	c.7262G>A	c.(7261-7263)cGt>cAt	p.R2421H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2421	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCAGGACACGGCAGATCCT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19647	0.001		0.0	False		,,,				2504	0.0																0													81.0	70.0	74.0					16																	20996802		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7262G>A	16.37:g.20996802C>T	ENSP00000261383:p.Arg2421His		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.R2421H	ENST00000261383.3	37	c.7262	CCDS10594.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.4	4.999055	0.93227	.	.	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.43	5.43	0.79202	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000001	D	0.85699	0.5757	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92110	0.5695	10	0.87932	D	0	.	19.2603	0.93966	0.0:1.0:0.0:0.0	.	2421	Q8TD57	DYH3_HUMAN	H	2421	ENSP00000261383:R2421H	ENSP00000261383:R2421H	R	-	2	0	DNAH3	20904303	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.783000	0.85696	2.554000	0.86153	0.655000	0.94253	CGT	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0.00	45	0	C	NM_017539		20996802	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13839580	13839580	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:13839580A>G	ENST00000265104.4	-	35	5871	c.5767T>C	c.(5767-5769)Tac>Cac	p.Y1923H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1923	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTAAAGTAAAATCTGCAC	0.383									Kartagener syndrome																																								0													108.0	105.0	106.0					5																	13839580		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5767T>C	5.37:g.13839580A>G	ENSP00000265104:p.Tyr1923His		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y1923H	ENST00000265104.4	37	c.5767	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382462	0.82792	.	.	ENSG00000039139	ENST00000265104	T	0.35973	1.28	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82240	-0.0555	10	0.87932	D	0	.	13.7867	0.63115	1.0:0.0:0.0:0.0	.	1923	Q8TE73	DYH5_HUMAN	H	1923	ENSP00000265104:Y1923H	ENSP00000265104:Y1923H	Y	-	1	0	DNAH5	13892580	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.265000	0.95647	1.866000	0.54105	0.528000	0.53228	TAC	DNAH5	-	NULL	ENSG00000039139		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	36	0	A	NM_001369		13839580	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	87.10	4	27	SNP	1.000	G
DNER	92737	genome.wustl.edu	37	2	230253070	230253070	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:230253070G>T	ENST00000341772.4	-	11	1900	c.1766C>A	c.(1765-1767)cCc>cAc	p.P589H		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	589	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGGTGGCAGGGGTTACTGTC	0.502																																																	0													150.0	145.0	147.0					2																	230253070		2203	4300	6503	SO:0001583	missense	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1766C>A	2.37:g.230253070G>T	ENSP00000345229:p.Pro589His		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P589H	ENST00000341772.4	37	c.1766	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840937	0.91197	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.95377	-3.69	5.69	5.69	0.88448	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98682	0.9558	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	.	19.4112	0.94673	0.0:0.0:1.0:0.0	.	589	Q8NFT8	DNER_HUMAN	H	589;307	ENSP00000345229:P589H	ENSP00000345229:P589H	P	-	2	0	DNER	229961314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.979000	0.93455	2.691000	0.91804	0.643000	0.83706	CCC	DNER	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000187957		0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1		0.00	54	0	G	NM_139072		230253070	-1			no_errors	ENST00000341772	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T
DNM1	1759	genome.wustl.edu	37	9	130980992	130980992	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:130980992C>T	ENST00000372923.3	+	3	459	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	DNM1_ENST00000393594.3_Missense_Mutation_p.R123C|DNM1_ENST00000341179.7_Missense_Mutation_p.R123C|DNM1_ENST00000475805.1_Missense_Mutation_p.R123C|DNM1_ENST00000486160.1_Missense_Mutation_p.R123C	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	123	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TATCAACCTCCGCGTCTACTC	0.622																																					GBM(113;146 1575 2722 28670 29921)												0													34.0	29.0	30.0					9																	130980992		2203	4300	6503	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.367C>T	9.37:g.130980992C>T	ENSP00000362014:p.Arg123Cys		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.R123C	ENST00000372923.3	37	c.367	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.155744	0.94686	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24	5.38	5.38	0.77491	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.99612	1.0981	10	0.87932	D	0	-0.4131	15.5138	0.75806	0.1387:0.8613:0.0:0.0	.	123;123;123	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	C	123;123;123;118;123;123	ENSP00000419225:R123C;ENSP00000345680:R123C;ENSP00000362014:R123C;ENSP00000377219:R123C;ENSP00000420045:R123C	ENSP00000345680:R123C	R	+	1	0	DNM1	130020813	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.464000	0.35288	2.517000	0.84864	0.462000	0.41574	CGC	DNM1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase	ENSG00000106976		0.622	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	-	0.00	71	0	C	NM_004408		130980992	+1	tier1	-	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	78.67	16	59	SNP	1.000	T
DOCK3	1795	genome.wustl.edu	37	3	51264859	51264859	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:51264859A>G	ENST00000266037.9	+	16	1546	c.1523A>G	c.(1522-1524)gAg>gGg	p.E508G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	508	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGCGCTTTGAGTTCAGACAT	0.468																																																	0													85.0	81.0	82.0					3																	51264859		1839	4078	5917	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1523A>G	3.37:g.51264859A>G	ENSP00000266037:p.Glu508Gly		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E508G	ENST00000266037.9	37	c.1523	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	28.2	4.903774	0.92035	.	.	ENSG00000088538	ENST00000266037	T	0.15603	2.41	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21930	-1.0231	10	0.27785	T	0.31	.	16.5932	0.84781	1.0:0.0:0.0:0.0	.	508	Q8IZD9	DOCK3_HUMAN	G	508	ENSP00000266037:E508G	ENSP00000266037:E508G	E	+	2	0	DOCK3	51239899	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.320000	0.78422	0.528000	0.53228	GAG	DOCK3	-	NULL	ENSG00000088538		0.468	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0.00	57	0	A	NM_004947		51264859	+1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G
DOPEY1	23033	genome.wustl.edu	37	6	83878179	83878180	+	3'UTR	INS	-	-	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:83878179_83878180insT	ENST00000349129.2	+	0	7951_7952				DOPEY1_ENST00000484282.1_3'UTR|PGM3_ENST00000512866.1_Intron|PGM3_ENST00000513973.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TACACTACCCATTTTTTTTTTC	0.337																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.*294->T	6.37:g.83878189_83878189dupT			Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	RNA	INS	-	NULL	ENST00000349129.2	37	NULL	CCDS4996.1	6																																																																																			DOPEY1	-	-	ENSG00000083097		0.337	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0.00	16	0	-	NM_015018		83878180	+1	tier1		no_errors	ENST00000484282	ensembl	human	known	74_37	rna	20.00	12	3	INS	0.998:1.000	T
DPH2	1802	genome.wustl.edu	37	1	44436634	44436634	+	Intron	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:44436634G>A	ENST00000255108.3	+	3	432				DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Intron|DPH2_ENST00000529729.1_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TATCTTCCCTGCAGCTGCTGC	0.532																																																	0													31.0	27.0	28.0					1																	44436634		2201	4297	6498	SO:0001627	intron_variant	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.261-4G>A	1.37:g.44436634G>A			A8MVC9|B2RDE3|B4DNI8|O60623	RNA	SNP	-	NULL	ENST00000255108.3	37	NULL	CCDS504.1	1																																																																																			DPH2	-	-	ENSG00000132768		0.532	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	-	0.00	26	0	G	NM_001384		44436634	+1	tier1	-	no_errors	ENST00000477294	ensembl	human	known	74_37	rna	18.75	13	3	SNP	0.949	A
DPYSL4	10570	genome.wustl.edu	37	10	134017229	134017229	+	Intron	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:134017229C>T	ENST00000338492.4	+	13	1625				DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4						axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAGGCTCAGCCCCTCATGCCC	0.697																																																	0													13.0	16.0	15.0					10																	134017229		2184	4282	6466	SO:0001627	intron_variant	0			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1462-37C>T	10.37:g.134017229C>T			B2RMQ1|D3DRG5|O00240|Q5T0Q7	RNA	SNP	-	NULL	ENST00000338492.4	37	NULL	CCDS7665.1	10																																																																																			DPYSL4	-	-	ENSG00000151640		0.697	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	HGNC	protein_coding	OTTHUMT00000051050.2	-	0.00	28	0	C			134017229	+1	tier1	-	no_errors	ENST00000471544	ensembl	human	known	74_37	rna	13.33	26	4	SNP	0.000	T
DUSP22	56940	genome.wustl.edu	37	6	345905	345905	+	Silent	SNP	C	C	T	rs144845390		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:345905C>T	ENST00000344450.5	+	5	683	c.240C>T	c.(238-240)cgC>cgT	p.R80R	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000419235.2_Silent_p.R80R	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	80	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCGGCTCCGCGGTGAGAGCT	0.438																																																	0								C		0,4406		0,0,2203	150.0	127.0	134.0		240	-8.2	0.0	6	dbSNP_134	134	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DUSP22	NM_020185.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		80/185	345905	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.240C>T	6.37:g.345905C>T			B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R80	ENST00000344450.5	37	c.240	CCDS4468.1	6	.	.	.	.	.	.	.	.	.	.	C	1.478	-0.558087	0.03967	0.0	2.33E-4	ENSG00000112679	ENST00000419235	.	.	.	5.25	-8.23	0.01033	.	1.130420	0.06716	N	0.774021	T	0.32346	0.0826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54227	-0.8325	6	0.72032	D	0.01	.	2.3371	0.04251	0.3724:0.0884:0.3285:0.2107	.	.	.	.	W	18	.	ENSP00000397459:R18W	R	+	1	2	DUSP22	290905	0.004000	0.15560	0.000000	0.03702	0.111000	0.19643	-0.517000	0.06275	-1.947000	0.01034	-1.648000	0.00760	CGG	DUSP22	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000112679		0.438	DUSP22-001	KNOWN	basic|CCDS	protein_coding	DUSP22	HGNC	protein_coding	OTTHUMT00000039621.1	-	0.00	73	0	C	NM_020185		345905	+1	tier1	rs144845390	no_errors	ENST00000419235	ensembl	human	known	74_37	silent	20.48	66	17	SNP	0.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103107245	103107245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:103107245G>T	ENST00000375735.2	+	63	9940	c.9796G>T	c.(9796-9798)Gaa>Taa	p.E3266*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E3266*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3266	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTTTCCATAGAAAATGCTCT	0.303																																																	0													95.0	87.0	90.0					11																	103107245		1787	4058	5845	SO:0001587	stop_gained	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9796G>T	11.37:g.103107245G>T	ENSP00000364887:p.Glu3266*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3266*	ENST00000375735.2	37	c.9796	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	51	18.446025	0.99905	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.51	5.51	0.81932	.	0.059077	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4649	0.94934	0.0:0.0:1.0:0.0	.	.	.	.	X	3266	.	ENSP00000364887:E3266X	E	+	1	0	DYNC2H1	102612455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.315000	0.96313	2.582000	0.87167	0.644000	0.83932	GAA	DYNC2H1	-	NULL	ENSG00000187240		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0.00	74	0	G	XM_370652		103107245	+1			no_errors	ENST00000398093	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T
EDEM1	9695	genome.wustl.edu	37	3	5252815	5252815	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:5252815G>C	ENST00000256497.4	+	10	1727	c.1594G>C	c.(1594-1596)Gcc>Ccc	p.A532P	EDEM1_ENST00000445686.1_Missense_Mutation_p.A337P	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	532					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GTGTGGGTACGCCACGCTGCA	0.448																																																	0													134.0	122.0	126.0					3																	5252815		2203	4300	6503	SO:0001583	missense	0			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1594G>C	3.37:g.5252815G>C	ENSP00000256497:p.Ala532Pro		A8K9C8|B4DXP3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.A532P	ENST00000256497.4	37	c.1594	CCDS33686.1	3	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770707	0.90108	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.74526	-0.85;-0.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.90827	0.7119	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93373	0.6737	10	0.87932	D	0	-22.7801	19.1382	0.93436	0.0:0.0:1.0:0.0	.	532	Q92611	EDEM1_HUMAN	P	532;337	ENSP00000256497:A532P;ENSP00000394099:A337P	ENSP00000256497:A532P	A	+	1	0	EDEM1	5227815	1.000000	0.71417	0.918000	0.36340	0.640000	0.38277	9.260000	0.95568	2.505000	0.84491	0.655000	0.94253	GCC	EDEM1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000134109		0.448	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	HGNC	protein_coding	OTTHUMT00000337566.2	-	0.00	61	0	G	NM_014674		5252815	+1	tier1	-	no_errors	ENST00000256497	ensembl	human	known	74_37	missense	62.65	31	52	SNP	1.000	C
ECE2	9718	genome.wustl.edu	37	3	184008605	184008605	+	Silent	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:184008605T>C	ENST00000402825.3	+	16	2145	c.2145T>C	c.(2143-2145)ggT>ggC	p.G715G	ECE2_ENST00000404464.3_Silent_p.G597G|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.G643G|ECE2_ENST00000359140.4_Silent_p.G568G	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	715	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGCATCGGTGTGGTCATGG	0.597																																																	0													108.0	103.0	105.0					3																	184008605		2203	4300	6503	SO:0001819	synonymous_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2145T>C	3.37:g.184008605T>C			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.G715	ENST00000402825.3	37	c.2145	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_C,prints_Peptidase_M13_C	ENSG00000145194		0.597	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3		0.00	79	0	T	NM_014693		184008605	+1			no_errors	ENST00000402825	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.163	C
EGLN1	54583	genome.wustl.edu	37	1	231502060	231502060	+	3'UTR	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:231502060G>T	ENST00000366641.3	-	0	4533				EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				ATGCGAACTGGTTGTCTATTT	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.*97C>A	1.37:g.231502060G>T				RNA	SNP	-	NULL	ENST00000366641.3	37	NULL	CCDS1595.1	1																																																																																			EGLN1	-	-	ENSG00000135766		0.338	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGLN1	HGNC	protein_coding	OTTHUMT00000092879.1	-	0.00	52	0	G	NM_022051		231502060	-1	tier1	-	no_errors	ENST00000476717	ensembl	human	known	74_37	rna	11.54	23	3	SNP	0.002	T
EHF	26298	genome.wustl.edu	37	11	34680231	34680231	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:34680231G>C	ENST00000533754.1	+	8	976	c.759G>C	c.(757-759)aaG>aaC	p.K253N	EHF_ENST00000450654.2_Missense_Mutation_p.K230N|EHF_ENST00000531794.1_Missense_Mutation_p.K275N|EHF_ENST00000530286.1_Missense_Mutation_p.K253N|EHF_ENST00000257831.3_Missense_Mutation_p.K253N					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GTAAAAAGAAGAACAACAGCA	0.448																																																	0													90.0	95.0	93.0					11																	34680231		2202	4298	6500	SO:0001583	missense	0			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.759G>C	11.37:g.34680231G>C	ENSP00000435837:p.Lys253Asn			Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K253N	ENST00000533754.1	37	c.759	CCDS7894.1	11	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392389	0.62066	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.7	-5.78	0.02362	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.99;0.999	T	0.77199	-0.2675	10	0.87932	D	0	.	18.3376	0.90294	0.4181:0.0:0.5819:0.0	.	275;230;253	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	N	253;230;253;253;275	ENSP00000257831:K253N;ENSP00000399733:K230N;ENSP00000433508:K253N;ENSP00000435837:K253N;ENSP00000435835:K275N	ENSP00000257831:K253N	K	+	3	2	EHF	34636807	0.011000	0.17503	0.908000	0.35775	0.982000	0.71751	-0.592000	0.05747	-1.115000	0.02973	-0.367000	0.07326	AAG	EHF	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000135373		0.448	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EHF	HGNC	protein_coding	OTTHUMT00000389855.1	-	0.00	61	0	G	NM_012153		34680231	+1	tier1	-	no_errors	ENST00000257831	ensembl	human	known	74_37	missense	89.66	3	26	SNP	0.380	C
EIF3K	27335	genome.wustl.edu	37	19	39123269	39123270	+	In_Frame_Ins	INS	-	-	CAG			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:39123269_39123270insCAG	ENST00000538434.1	+	5	424_425	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	EIF3K_ENST00000593149.1_In_Frame_Ins_p.64_64Q>QQ|EIF3K_ENST00000588934.1_Intron|EIF3K_ENST00000592558.1_Intron|EIF3K_ENST00000248342.4_In_Frame_Ins_p.151_151Q>QQ|EIF3K_ENST00000545173.2_In_Frame_Ins_p.151_151Q>QQ					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTATCACTTACCAGCACATTGA	0.619																																																	0																																										SO:0001652	inframe_insertion	0			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.190_192dupCAG	19.37:g.39123270_39123272dupCAG	ENSP00000440999:p.Gln64dup			In_Frame_Ins	INS	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.151in_frame_insQ	ENST00000538434.1	37	c.450_451		19																																																																																			EIF3K	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000178982		0.619	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453409.1		0.00	56	0	-	NM_013234		39123270	+1	tier1		no_errors	ENST00000248342	ensembl	human	known	74_37	in_frame_ins	27.27	24	9	INS	1.000:1.000	CAG
RP11-508N22.8	0	genome.wustl.edu	37	10	38464759	38464759	+	RNA	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:38464759C>T	ENST00000423162.1	+	0	164				RP11-508N22.9_ENST00000419779.1_lincRNA																							AGGCATTGGCCCAAGCTGTGG	0.572																																																	0																																												0																															10.37:g.38464759C>T				RNA	SNP	-	NULL	ENST00000423162.1	37	NULL		10																																																																																			RP11-508N22.8	-	-	ENSG00000224761		0.572	RP11-508N22.8-001	KNOWN	basic	processed_transcript	ENSG00000224761	Clone_based_vega_gene	processed_transcript	OTTHUMT00000047629.1	-	0.00	29	0	C			38464759	+1	tier1	-	no_errors	ENST00000423162	ensembl	human	known	74_37	rna	54.05	17	20	SNP	0.019	T
C6orf164	63914	genome.wustl.edu	37	6	88109151	88109151	+	Intron	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:88109151G>T	ENST00000369570.4	+	2	1256				RP1-102H19.8_ENST00000369572.2_Splice_Site|RP1-102H19.8_ENST00000448282.2_Splice_Site			Q5TEZ4	CF164_HUMAN	chromosome 6 open reading frame 164																		TGCTCTCCTAGGAAGCCTGCA	0.537																																																	0																																										SO:0001627	intron_variant	0			AK021476		6q15-q16.1	2008-10-20			ENSG00000203871	ENSG00000203871			21404	protein-coding gene	gene with protein product							Standard	NR_026784		Approved	dJ102H19.4	uc021zcm.2	Q5TEZ4	OTTHUMG00000015170	ENST00000369570.4:c.164-5G>T	6.37:g.88109151G>T			A6NM89	Splice_Site	SNP	-	e3-1	ENST00000369570.4	37	c.177-1		6	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320693	0.01320	.	.	ENSG00000203871	ENST00000369572	.	.	.	1.51	-3.03	0.05429	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.966	0.05908	0.3779:0.2591:0.3629:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C6orf164	88165870	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.432000	0.06956	-0.779000	0.04560	-2.002000	0.00443	.	RP1-102H19.8	-	-	ENSG00000226524		0.537	C6orf164-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000226524	Clone_based_vega_gene	protein_coding	OTTHUMT00000041437.2	-	0.00	50	0	G	NM_022084		88109151	+1	tier1	-	no_errors	ENST00000448282	ensembl	human	known	74_37	splice_site	8.93	51	5	SNP	0.000	T
LINC01347	731275	genome.wustl.edu	37	1	243211043	243211043	+	lincRNA	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:243211043A>G	ENST00000450226.1	-	0	214																											ATCAGTGCTGAGTCTGCAGTG	0.393																																																	0																																												0																															1.37:g.243211043A>G				RNA	SNP	-	NULL	ENST00000450226.1	37	NULL		1																																																																																			RP11-261C10.2	-	-	ENSG00000231512		0.393	RP11-261C10.2-003	KNOWN	basic	lincRNA	ENSG00000231512	Clone_based_vega_gene	lincRNA	OTTHUMT00000096161.1	-	0.00	196	0	A			243211043	-1	tier1	-	no_errors	ENST00000420830	ensembl	human	known	74_37	rna	57.79	84	115	SNP	0.998	G
MGAT2	4247	genome.wustl.edu	37	14	50089989	50089989	+	3'UTR	DEL	T	T	-	rs573436485	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:50089989delT	ENST00000305386.2	+	0	2501				RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase						cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AGTGGTTTTGTTTTTTTTTTT	0.274																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.*659T>-	14.37:g.50089989delT			B3KPC5|B3KQM0	RNA	DEL	-	NULL	ENST00000305386.2	37	NULL	CCDS9690.1	14																																																																																			RP11-649E7.5	-	-	ENSG00000258377		0.274	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258377	Clone_based_vega_gene	protein_coding	OTTHUMT00000276807.1		0.00	38	0	T	NM_002408		50089989	-1	tier1		no_errors	ENST00000555043	ensembl	human	known	74_37	rna	23.08	40	12	DEL	0.003	-
RP11-467N20.5	0	genome.wustl.edu	37	15	23407236	23407236	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:23407236G>A	ENST00000558241.1	-	8	1690	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W																	endometrium(1)	1						tcctgctcccgtatcttctcc	0.557																																																	0																																										SO:0001583	missense	0																														ENST00000558241.1:c.1600C>T	15.37:g.23407236G>A	ENSP00000453436:p.Arg534Trp			Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.R534W	ENST00000558241.1	37	c.1600		15																																																																																			RP11-467N20.5	-	NULL	ENSG00000259455		0.557	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000259455	Clone_based_vega_gene	protein_coding	OTTHUMT00000415942.1	-	0.00	9	0	G			23407236	-1	tier1	-	no_errors	ENST00000558241	ensembl	human	novel	74_37	missense	60.00	4	6	SNP	0.035	A
IMP3	55272	genome.wustl.edu	37	15	75931413	75931413	+	5'Flank	DEL	A	A	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:75931413delA	ENST00000565349.1	-	0	557				CTD-2026K11.2_ENST00000564683.1_RNA			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						agaaaaaaagaaaaCCAGACA	0.483																																																	0																																										SO:0001631	upstream_gene_variant	0			AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"""mitochondrial ribosomal protein S4"", ""chromosome 15 open reading frame 12"", ""IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840		15.37:g.75931413delA	Exception_encountered		B2RDS0|Q8TAW1|Q96SZ8	RNA	DEL	-	NULL	ENST00000565349.1	37	NULL		15																																																																																			CTD-2026K11.2	-	-	ENSG00000260206		0.483	IMP3-002	KNOWN	basic	processed_transcript	ENSG00000260206	Clone_based_vega_gene	protein_coding	OTTHUMT00000420457.1		0.00	21	0	A	NM_018285		75931413	+1	tier1		no_errors	ENST00000564683	ensembl	human	known	74_37	rna	8.33	22	2	DEL	0.127	-
EOGT	285203	genome.wustl.edu	37	3	69047176	69047176	+	Missense_Mutation	SNP	C	C	T	rs551271959		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:69047176C>T	ENST00000383701.3	-	10	1559	c.817G>A	c.(817-819)Gtg>Atg	p.V273M	EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.V172M|EOGT_ENST00000295571.5_Missense_Mutation_p.V273M	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	273					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										TCCCACATCACGATGTACACG	0.393																																																	0													162.0	137.0	146.0					3																	69047176		2203	4300	6503	SO:0001583	missense	0			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.817G>A	3.37:g.69047176C>T	ENSP00000373206:p.Val273Met		A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61	p.V273M	ENST00000383701.3	37	c.817		3	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544526	0.45280	.	.	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000540764	T;T;T	0.08193	3.12;3.12;3.12	5.41	4.52	0.55395	.	0.188795	0.45126	D	0.000383	T	0.24198	0.0586	.	.	.	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.64687	0.921;0.928	T	0.00180	-1.1948	9	0.39692	T	0.17	.	15.1701	0.72865	0.0:0.9282:0.0:0.0718	.	273;273	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	M	273;273;172	ENSP00000373206:V273M;ENSP00000295571:V273M;ENSP00000443780:V172M	ENSP00000295571:V273M	V	-	1	0	C3orf64	69129866	1.000000	0.71417	0.988000	0.46212	0.248000	0.25809	3.813000	0.55636	2.710000	0.92621	0.591000	0.81541	GTG	EOGT	-	pfam_Glycosyltransferase_AER61	ENSG00000163378		0.393	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1		0.00	26	0	C	NM_173654		69047176	-1			no_errors	ENST00000383701	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
ERBB2	2064	genome.wustl.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000141736		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	44	0	C			37868208	+1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	92.02	41	473	SNP	1.000	T
ERVV-2	100271846	genome.wustl.edu	37	19	53553339	53553339	+	Missense_Mutation	SNP	C	C	G	rs200390313		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:53553339C>G	ENST00000601417.1	+	2	1441	c.835C>G	c.(835-837)Cct>Gct	p.P279A		NM_001191055.1	NP_001177984.1	B6SEH9	ERVV2_HUMAN	endogenous retrovirus group V, member 2	279						integral component of membrane (GO:0016021)											TTCAACCCCCCCTGTGGCAAA	0.468																																																	0																																										SO:0001583	missense	0			AI434519, CA417098, DA863698	CCDS59420.1	19q13.41	2014-05-02			ENSG00000268964	ENSG00000268964			39051	other	endogenous retrovirus						18826608, 21542922	Standard	NM_001191055		Approved		uc021uzd.1	B6SEH9	OTTHUMG00000182943	ENST00000601417.1:c.835C>G	19.37:g.53553339C>G	ENSP00000472919:p.Pro279Ala			Missense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.P279A	ENST00000601417.1	37	c.835	CCDS59420.1	19																																																																																			ERVV-2	-	NULL	ENSG00000268964		0.468	ERVV-2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ERVV-2	HGNC	protein_coding	OTTHUMT00000464404.1	-	0.00	43	0	C	NM_001191055		53553339	+1	tier1	rs200390313	no_errors	ENST00000601417	ensembl	human	known	74_37	missense	66.67	1	2	SNP	0.004	G
ESPL1	9700	genome.wustl.edu	37	12	53677886	53677886	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:53677886G>A	ENST00000257934.4	+	17	3213	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1041H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1041					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAGCTGGCCCGCAATGACATT	0.552																																					Colon(53;1069 1201 2587 5382)												0													238.0	217.0	224.0					12																	53677886		2203	4300	6503	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3122G>A	12.37:g.53677886G>A	ENSP00000257934:p.Arg1041His			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.R1041H	ENST00000257934.4	37	c.3122	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613757	0.87359	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13657	2.57;2.57	5.55	5.55	0.83447	.	0.167050	0.56097	D	0.000031	T	0.38532	0.1044	M	0.73598	2.24	0.41190	D	0.986291	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.939	T	0.05869	-1.0859	10	0.62326	D	0.03	.	16.535	0.84371	0.0:0.0:1.0:0.0	.	252;1041	B4DRU1;Q14674	.;ESPL1_HUMAN	H	1041;716;1041	ENSP00000257934:R1041H;ENSP00000449831:R1041H	ENSP00000257934:R1041H	R	+	2	0	ESPL1	51964153	1.000000	0.71417	0.990000	0.47175	0.946000	0.59487	3.119000	0.50422	2.894000	0.99253	0.655000	0.94253	CGC	ESPL1	-	NULL	ENSG00000135476		0.552	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0.00	44	0	G	NM_012291		53677886	+1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	A
ESPNP	284729	genome.wustl.edu	37	1	17026043	17026044	+	RNA	INS	-	-	GCA	rs678439|rs60794777|rs532832462	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:17026043_17026044insGCA	ENST00000492551.1	-	0	1404_1405					NR_026567.1				espin pseudogene																		cggcggcggcggcagcTGCTGC	0.782																																																	0																																												0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026044_17026046dupGCA				RNA	INS	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000268869		0.782	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1		0.00	8	0	-			17026044	-1	tier1		no_errors	ENST00000492551	ensembl	human	known	74_37	rna	30.77	9	4	INS	0.970:0.965	GCA
EXD2	55218	genome.wustl.edu	37	14	69695648	69695648	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:69695648G>T	ENST00000409018.3	+	3	577	c.449G>T	c.(448-450)aGa>aTa	p.R150I	EXD2_ENST00000409675.1_Missense_Mutation_p.R25I|EXD2_ENST00000409949.1_Missense_Mutation_p.R25I|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.R25I|EXD2_ENST00000409242.1_Missense_Mutation_p.R25I|EXD2_ENST00000312994.5_Missense_Mutation_p.R150I|EXD2_ENST00000409014.1_Missense_Mutation_p.R25I	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	150							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ACACTACCAAGAACGTTATTG	0.488																																																	0													136.0	130.0	132.0					14																	69695648		2203	4300	6503	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.449G>T	14.37:g.69695648G>T	ENSP00000387331:p.Arg150Ile		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.R150I	ENST00000409018.3	37	c.449	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344366	0.41498	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.05;-0.05;-0.05;-0.05;-0.1;-0.05;-0.05	5.95	3.63	0.41609	Ribonuclease H-like (1);	0.389801	0.30762	N	0.008933	T	0.46756	0.1409	L	0.31752	0.955	0.41794	D	0.989884	B;B	0.20780	0.048;0.005	B;B	0.25759	0.062;0.063	T	0.36601	-0.9741	10	0.45353	T	0.12	-11.1268	6.2842	0.21023	0.7683:0.0:0.2317:0.0	.	150;25	G5E947;Q9NVH0	.;EXD2_HUMAN	I	150;150;25;25;25;25;150;25;25	ENSP00000387331:R150I;ENSP00000386915:R25I;ENSP00000386762:R25I;ENSP00000386632:R25I;ENSP00000386839:R25I;ENSP00000313140:R150I;ENSP00000409089:R25I;ENSP00000392177:R25I	ENSP00000193422:R150I	R	+	2	0	EXD2	68765401	0.992000	0.36948	0.997000	0.53966	0.618000	0.37518	1.051000	0.30417	0.720000	0.32209	0.563000	0.77884	AGA	EXD2	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000081177		0.488	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	-	0.00	52	0	G			69695648	+1	tier1	-	no_errors	ENST00000312994	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.964	T
FAM124A	220108	genome.wustl.edu	37	13	51854757	51854757	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:51854757C>T	ENST00000322475.8	+	4	1141	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	FAM124A_ENST00000280057.6_Missense_Mutation_p.P372S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	336										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GACAGGCCTGCCTCCTGGGCA	0.622																																																	0													59.0	68.0	65.0					13																	51854757		2203	4300	6503	SO:0001583	missense	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.1006C>T	13.37:g.51854757C>T	ENSP00000324625:p.Pro336Ser		A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.P372S	ENST00000322475.8	37	c.1114	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864253	0.32977	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.43688	0.94;0.94	4.59	0.586	0.17434	.	0.861042	0.10037	N	0.723920	T	0.24084	0.0583	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.019;0.017	B;B	0.15484	0.011;0.013	T	0.28138	-1.0053	10	0.10377	T	0.69	-0.9526	2.7193	0.05196	0.1373:0.4604:0.2404:0.162	.	336;372	Q86V42;Q86V42-2	F124A_HUMAN;.	S	336;372	ENSP00000324625:P336S;ENSP00000280057:P372S	ENSP00000280057:P372S	P	+	1	0	FAM124A	50752758	0.000000	0.05858	0.001000	0.08648	0.478000	0.33099	0.073000	0.14640	0.171000	0.19730	0.655000	0.94253	CCT	FAM124A	-	NULL	ENSG00000150510		0.622	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3		0.00	39	0	C	NM_145019		51854757	+1			no_errors	ENST00000280057	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	T
FAM126B	285172	genome.wustl.edu	37	2	201846001	201846001	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:201846001G>T	ENST00000418596.3	-	12	1772	c.1585C>A	c.(1585-1587)Cag>Aag	p.Q529K	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	529						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AACTACACCTGGGATATTAGC	0.463																																																	0													151.0	151.0	151.0					2																	201846001		2203	4300	6503	SO:0001583	missense	0			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1585C>A	2.37:g.201846001G>T	ENSP00000393667:p.Gln529Lys		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.Q529K	ENST00000418596.3	37	c.1585	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019077	0.75275	.	.	ENSG00000155744	ENST00000418596	D	0.81821	-1.54	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	N	0.19112	0.55	0.80722	D	1	D;P	0.57899	0.981;0.924	D;P	0.65010	0.931;0.9	D	0.84368	0.0542	10	0.54805	T	0.06	-7.661	20.2576	0.98430	0.0:0.0:1.0:0.0	.	335;529	B3KUG1;Q8IXS8	.;F126B_HUMAN	K	529	ENSP00000393667:Q529K	ENSP00000393667:Q529K	Q	-	1	0	FAM126B	201554246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.783000	0.95769	0.655000	0.94253	CAG	FAM126B	-	NULL	ENSG00000155744		0.463	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3		0.00	27	0	G	NM_173822		201846001	-1			no_errors	ENST00000418596	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T
FAM188A	80013	genome.wustl.edu	37	10	15876565	15876565	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:15876565T>C	ENST00000277632.3	-	7	847	c.627A>G	c.(625-627)atA>atG	p.I209M	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	209					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ATACAGGATCTATCAAGGGTT	0.308																																					Pancreas(159;946 1953 2111 4475 22008)												0													183.0	172.0	176.0					10																	15876565		2203	4300	6503	SO:0001583	missense	0			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.627A>G	10.37:g.15876565T>C	ENSP00000277632:p.Ile209Met		Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	NULL	p.I209M	ENST00000277632.3	37	c.627	CCDS7110.1	10	.	.	.	.	.	.	.	.	.	.	T	19.44	3.827788	0.71143	.	.	ENSG00000148481	ENST00000277632;ENST00000418767;ENST00000436829	T;T;T	0.34859	1.34;1.34;1.34	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.51857	-0.8652	10	0.51188	T	0.08	-16.5514	11.1785	0.48614	0.1371:0.0:0.0:0.8629	.	209	Q9H8M7	F188A_HUMAN	M	209;49;62	ENSP00000277632:I209M;ENSP00000388661:I49M;ENSP00000389883:I62M	ENSP00000277632:I209M	I	-	3	3	FAM188A	15916571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.301000	0.51842	2.191000	0.70037	0.528000	0.53228	ATA	FAM188A	-	NULL	ENSG00000148481		0.308	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188A	HGNC	protein_coding	OTTHUMT00000046990.2	-	0.00	55	0	T	NM_024948		15876565	-1	tier1	-	no_errors	ENST00000277632	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	C
FAM19A1	407738	genome.wustl.edu	37	3	68588032	68588032	+	Splice_Site	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:68588032G>T	ENST00000478136.1	+	4	874		c.e4+1		FAM19A1_ENST00000496687.1_Splice_Site	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1							endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GACCACGAGAGTAAGTGCACT	0.428																																																	0													107.0	106.0	106.0					3																	68588032		1947	4144	6091	SO:0001630	splice_region_variant	0			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.384+1G>T	3.37:g.68588032G>T			A8K0V3|Q8TCL8	Splice_Site	SNP	-	e3+1	ENST00000478136.1	37	c.384+1	CCDS54606.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615148	0.87359	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6691	0.91504	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM19A1	68670722	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.690000	0.98676	2.474000	0.83562	0.650000	0.86243	.	FAM19A1	-	-	ENSG00000183662		0.428	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A1	HGNC	protein_coding	OTTHUMT00000352004.1	-	0.00	46	0	G	NM_213609	Intron	68588032	+1	tier1	-	no_errors	ENST00000478136	ensembl	human	known	74_37	splice_site	57.45	20	27	SNP	1.000	T
FAM78A	286336	genome.wustl.edu	37	9	134136426	134136426	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:134136426C>T	ENST00000372271.3	-	2	1002	c.635G>A	c.(634-636)cGc>cAc	p.R212H	FAM78A_ENST00000372269.3_Missense_Mutation_p.R209H|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	212										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GAGCTGCATGCGCCAGTGCAG	0.637																																																	0													90.0	85.0	87.0					9																	134136426		2203	4300	6503	SO:0001583	missense	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.635G>A	9.37:g.134136426C>T	ENSP00000361345:p.Arg212His		Q86VQ9|Q9H7P4	Missense_Mutation	SNP	NULL	p.R212H	ENST00000372271.3	37	c.635	CCDS6941.2	9	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501521	0.64298	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.95412	-3.7;-3.7;-3.7	4.75	3.86	0.44501	.	0.046101	0.85682	N	0.000000	D	0.93109	0.7806	M	0.71581	2.175	0.80722	D	1	B;P	0.34412	0.023;0.453	B;B	0.23716	0.012;0.048	D	0.92031	0.5633	10	0.66056	D	0.02	-25.8245	12.3362	0.55069	0.0:0.9174:0.0:0.0826	.	212;209	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	H	209;212;181	ENSP00000361343:R209H;ENSP00000361345:R212H;ENSP00000419959:R181H	ENSP00000361343:R209H	R	-	2	0	FAM78A	133126247	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.050000	0.71063	1.126000	0.42016	0.462000	0.41574	CGC	FAM78A	-	NULL	ENSG00000126882		0.637	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1		0.00	20	0	C	NM_033387		134136426	-1			no_errors	ENST00000372271	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T
FANCB	2187	genome.wustl.edu	37	X	14882980	14882980	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:14882980T>C	ENST00000324138.3	-	2	806	c.653A>G	c.(652-654)gAa>gGa	p.E218G	FANCB_ENST00000398334.1_Missense_Mutation_p.E218G	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	218					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTCTTGACTTTCAAGAGAATA	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													70.0	72.0	72.0					X																	14882980		2203	4297	6500	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.653A>G	X.37:g.14882980T>C	ENSP00000326819:p.Glu218Gly		B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	NULL	p.E218G	ENST00000324138.3	37	c.653	CCDS14161.1	X	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701961	0.68501	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.03386	3.95;3.95;3.95	5.56	5.56	0.83823	.	0.159541	0.56097	D	0.000030	T	0.10809	0.0264	M	0.70275	2.135	0.36790	D	0.884784	D	0.56746	0.977	P	0.49752	0.621	T	0.04165	-1.0972	10	0.72032	D	0.01	-7.3719	14.9217	0.70843	0.0:0.0:0.0:1.0	.	218	Q8NB91	FANCB_HUMAN	G	218	ENSP00000326819:E218G;ENSP00000381378:E218G;ENSP00000397849:E218G	ENSP00000326819:E218G	E	-	2	0	FANCB	14792901	1.000000	0.71417	0.235000	0.24058	0.777000	0.43975	4.686000	0.61700	1.974000	0.57490	0.486000	0.48141	GAA	FANCB	-	NULL	ENSG00000181544		0.338	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	-	0.00	26	0	T	NM_152633		14882980	-1	tier1	-	no_errors	ENST00000324138	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	C
FGFRL1	53834	genome.wustl.edu	37	4	1006305	1006305	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:1006305T>C	ENST00000398484.2	+	3	612	c.32T>C	c.(31-33)cTg>cCg	p.L11P	FGFRL1_ENST00000510644.1_Missense_Mutation_p.L11P|FGFRL1_ENST00000504138.1_Missense_Mutation_p.L11P|FGFRL1_ENST00000264748.6_Missense_Mutation_p.L11P			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	11					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ctgctcctgctgccgccgctg	0.746																																																	0													11.0	12.0	12.0					4																	1006305		2098	4130	6228	SO:0001583	missense	0				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.32T>C	4.37:g.1006305T>C	ENSP00000381498:p.Leu11Pro		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L11P	ENST00000398484.2	37	c.32	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	T	9.904	1.207788	0.22205	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000512174;ENST00000507339;ENST00000264748	T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.6;-0.12;-0.81	2.36	-1.86	0.07760	.	0.300978	0.23076	U	0.052214	T	0.46268	0.1384	N	0.08118	0	0.30194	N	0.799243	B	0.02656	0.0	B	0.04013	0.001	T	0.27872	-1.0061	10	0.87932	D	0	.	3.6171	0.08082	0.2164:0.4815:0.0:0.3021	.	11	Q8N441	FGRL1_HUMAN	P	11	ENSP00000381498:L11P;ENSP00000425025:L11P;ENSP00000423091:L11P;ENSP00000426740:L11P;ENSP00000424037:L11P;ENSP00000264748:L11P	ENSP00000264748:L11P	L	+	2	0	FGFRL1	996305	0.693000	0.27728	0.969000	0.41365	0.463000	0.32649	-0.018000	0.12568	-0.261000	0.09405	-0.451000	0.05528	CTG	FGFRL1	-	NULL	ENSG00000127418		0.746	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	-	0.00	16	0	T	NM_021923		1006305	+1	tier1	-	no_errors	ENST00000264748	ensembl	human	known	74_37	missense	66.67	2	4	SNP	0.263	C
FAT4	79633	genome.wustl.edu	37	4	126389802	126389802	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:126389802T>A	ENST00000394329.3	+	11	12048	c.12035T>A	c.(12034-12036)cTt>cAt	p.L4012H	FAT4_ENST00000335110.5_Missense_Mutation_p.L2275H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4012	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTTATTGCTTTACAACTAT	0.393																																																	0													81.0	80.0	80.0					4																	126389802		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12035T>A	4.37:g.126389802T>A	ENSP00000377862:p.Leu4012His		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L4012H	ENST00000394329.3	37	c.12035	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445758	0.84101	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.86562	-2.14;-2.14	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.26931	U	0.021771	D	0.94142	0.8121	M	0.88310	2.945	0.54753	D	0.999984	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.943;0.981;0.943	D	0.95188	0.8305	10	0.87932	D	0	.	15.0081	0.71527	0.0:0.0:0.0:1.0	.	2275;4012;4012	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	H	4012;2275	ENSP00000377862:L4012H;ENSP00000335169:L2275H	ENSP00000335169:L2275H	L	+	2	0	FAT4	126609252	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.877000	0.87225	1.943000	0.56356	0.473000	0.43528	CTT	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	78	0	T	NM_024582		126389802	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	44.26	34	27	SNP	1.000	A
FLT1	2321	genome.wustl.edu	37	13	29012409	29012409	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:29012409G>A	ENST00000282397.4	-	4	713	c.462C>T	c.(460-462)ctC>ctT	p.L154L	FLT1_ENST00000539099.1_Silent_p.L154L|FLT1_ENST00000541932.1_Silent_p.L154L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	154	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGAATGACGAGCTCCCTTC	0.388																																																	0													124.0	107.0	113.0					13																	29012409		2203	4300	6503	SO:0001819	synonymous_variant	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.462C>T	13.37:g.29012409G>A			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.L154	ENST00000282397.4	37	c.462	CCDS9330.1	13																																																																																			FLT1	-	smart_Ig_sub,smart_Ig_sub2,prints_VEGFR1_rcpt	ENSG00000102755		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0.00	61	0	G			29012409	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	silent	18.75	65	15	SNP	0.007	A
GLTSCR1L	23506	genome.wustl.edu	37	6	42832452	42832452	+	Silent	SNP	G	G	A	rs548782383		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:42832452G>A	ENST00000314073.5	+	13	2684	c.2508G>A	c.(2506-2508)gaG>gaA	p.E836E	GLTSCR1L_ENST00000394168.1_Silent_p.E836E			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	836																	CTGCTCATGAGACACAGTTTG	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21217	0.0		0.0	False		,,,				2504	0.0																0													125.0	115.0	119.0					6																	42832452		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2508G>A	6.37:g.42832452G>A			A1L3W2|Q5TFZ3|Q92514	Silent	SNP	NULL	p.E836	ENST00000314073.5	37	c.2508	CCDS34451.1	6																																																																																			GLTSCR1L	-	NULL	ENSG00000112624		0.502	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1L	HGNC	protein_coding	OTTHUMT00000040562.3	-	0.00	44	0	G	NM_015349		42832452	+1	tier1	-	no_errors	ENST00000314073	ensembl	human	known	74_37	silent	32.20	40	19	SNP	0.993	A
FNDC1	84624	genome.wustl.edu	37	6	159653833	159653833	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:159653833G>A	ENST00000297267.9	+	11	2489	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	FNDC1_ENST00000340366.6_Missense_Mutation_p.M700I	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	763	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGTCCACCATGTCCTCCTCCG	0.617																																																	0													40.0	43.0	42.0					6																	159653833		2144	4243	6387	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2289G>A	6.37:g.159653833G>A	ENSP00000297267:p.Met763Ile		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.M763I	ENST00000297267.9	37	c.2289	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.387|8.387	0.838751|0.838751	0.16891|0.16891	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06449|.	3.3;4.12|.	4.31|4.31	-0.0411|-0.0411	0.13869|0.13869	.|.	4.029100|.	0.00481|.	N|.	0.000125|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.08055|.	0.003;0.001|.	T|T	0.39522|0.39522	-0.9610|-0.9610	10|5	0.36615|.	T|.	0.2|.	0.615|0.615	0.5875|0.5875	0.00722|0.00722	0.2405:0.1763:0.3768:0.2064|0.2405:0.1763:0.3768:0.2064	.|.	700;763|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	I|I	763;700|659	ENSP00000297267:M763I;ENSP00000342460:M700I|.	ENSP00000297267:M763I|.	M|V	+|+	3|1	0|0	FNDC1|FNDC1	159573823|159573823	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-0.601000|-0.601000	0.05687|0.05687	0.282000|0.282000	0.22254|0.22254	0.655000|0.655000	0.94253|0.94253	ATG|GTC	FNDC1	-	NULL	ENSG00000164694		0.617	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0.00	71	0	G	NM_032532		159653833	+1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	45.45	22	20	SNP	0.001	A
GMIP	51291	genome.wustl.edu	37	19	19752628	19752628	+	Missense_Mutation	SNP	G	G	A	rs376828096		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:19752628G>A	ENST00000203556.4	-	4	366	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	GMIP_ENST00000587238.1_Missense_Mutation_p.P77S|GMIP_ENST00000445806.2_Missense_Mutation_p.P77S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	77					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTGTGAGGGGTACAGGACCC	0.602																																																	0								G	SER/PRO	0,4406		0,0,2203	24.0	24.0	24.0		229	4.5	1.0	19		24	1,8595	1.2+/-3.3	0,1,4297	no	missense	GMIP	NM_016573.2	74	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	77/971	19752628	1,13001	2203	4298	6501	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.229C>T	19.37:g.19752628G>A	ENSP00000203556:p.Pro77Ser		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.P77S	ENST00000203556.4	37	c.229	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170927	0.38315	0.0	1.16E-4	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.30448	1.53;1.53	4.54	4.54	0.55810	.	0.000000	0.41194	D	0.000929	T	0.22936	0.0554	L	0.42245	1.32	0.35626	D	0.809867	B;B;B	0.30824	0.15;0.15;0.296	B;B;B	0.22753	0.027;0.041;0.041	T	0.20907	-1.0261	10	0.18276	T	0.48	-21.6101	12.64	0.56705	0.0:0.0:1.0:0.0	.	77;77;77	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	S	77	ENSP00000203556:P77S;ENSP00000397075:P77S	ENSP00000203556:P77S	P	-	1	0	GMIP	19613628	0.993000	0.37304	0.980000	0.43619	0.617000	0.37484	2.691000	0.47010	2.342000	0.79632	0.561000	0.74099	CCC	GMIP	-	NULL	ENSG00000089639		0.602	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1		0.00	40	0	G	NM_016573		19752628	-1			no_errors	ENST00000203556	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.963	A
GOLGA2P5	55592	genome.wustl.edu	37	12	100562921	100562921	+	RNA	DEL	T	T	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:100562921delT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GTCTCATTTGTTTTttttttt	0.403																																																	0																																												0																															12.37:g.100562921delT			Q9NSV2	RNA	DEL	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-	ENSG00000238105		0.403	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2		0.00	22	0	T			100562921	-1	tier1		no_errors	ENST00000421840	ensembl	human	known	74_37	rna	26.09	17	6	DEL	0.000	-
GOLGB1	2804	genome.wustl.edu	37	3	121410779	121410779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:121410779G>A	ENST00000340645.5	-	14	7542	c.7417C>T	c.(7417-7419)Cga>Tga	p.R2473*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.R2478*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2473					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATGCGGTCTCGATCATTTTGG	0.413																																																	0													171.0	169.0	170.0					3																	121410779		2203	4300	6503	SO:0001587	stop_gained	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7417C>T	3.37:g.121410779G>A	ENSP00000341848:p.Arg2473*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R2473*	ENST00000340645.5	37	c.7417	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	48	14.172399	0.99783	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.69	4.8	0.61643	.	0.000000	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	13.6677	0.62405	0.0:0.0:0.8443:0.1557	.	.	.	.	X	2473;2478	.	ENSP00000341848:R2473X	R	-	1	2	GOLGB1	122893469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.745000	0.26259	1.359000	0.45940	0.563000	0.77884	CGA	GOLGB1	-	NULL	ENSG00000173230		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0.00	57	0	G	NM_004487		121410779	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	nonsense	51.95	37	40	SNP	1.000	A
GRAP2	9402	genome.wustl.edu	37	22	40365485	40365485	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:40365485C>T	ENST00000344138.4	+	7	1024	c.761C>T	c.(760-762)gCg>gTg	p.A254V	GRAP2_ENST00000544756.1_Missense_Mutation_p.A182V|GRAP2_ENST00000543252.1_Missense_Mutation_p.A214V|GRAP2_ENST00000407075.3_Missense_Mutation_p.A254V|GRAP2_ENST00000540310.1_Missense_Mutation_p.A188V|GRAP2_ENST00000399090.2_Missense_Mutation_p.A141V	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	254					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAAATGAATGCGGCCCTCATG	0.572																																																	0													122.0	101.0	108.0					22																	40365485		2203	4300	6503	SO:0001583	missense	0			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.761C>T	22.37:g.40365485C>T	ENSP00000339186:p.Ala254Val		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.A254V	ENST00000344138.4	37	c.761	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758344	0.31137	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.74209	-0.33;-0.82;1.52;0.94;0.66;-0.33	5.69	5.69	0.88448	.	0.603639	0.17228	N	0.182044	T	0.61912	0.2385	L	0.29908	0.895	0.09310	N	0.999996	P;B;P;P;B	0.50710	0.938;0.384;0.931;0.918;0.384	B;B;B;B;B	0.37267	0.146;0.057;0.245;0.204;0.057	T	0.57300	-0.7835	10	0.19590	T	0.45	-9.9602	17.985	0.89153	0.0:1.0:0.0:0.0	.	141;254;188;228;254	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	V	254;214;228;188;182;141;254	ENSP00000339186:A254V;ENSP00000446350:A214V;ENSP00000444734:A188V;ENSP00000442195:A182V;ENSP00000382040:A141V;ENSP00000385607:A254V	ENSP00000339186:A254V	A	+	2	0	GRAP2	38695431	0.150000	0.22732	0.023000	0.16930	0.037000	0.13140	4.664000	0.61540	2.676000	0.91093	0.655000	0.94253	GCG	GRAP2	-	NULL	ENSG00000100351		0.572	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	HGNC	protein_coding	OTTHUMT00000321295.1		0.00	34	0	C	NM_004810		40365485	+1			no_errors	ENST00000344138	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.070	T
GRHPR	9380	genome.wustl.edu	37	9	37424873	37424873	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:37424873C>T	ENST00000318158.6	+	2	200	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	GRHPR_ENST00000607784.1_Missense_Mutation_p.P39S|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	39					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CTCGGATGAGCCCATCCCTGC	0.677																																																	0													48.0	45.0	46.0					9																	37424873		2203	4300	6503	SO:0001583	missense	0			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.115C>T	9.37:g.37424873C>T	ENSP00000313432:p.Pro39Ser		Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.P39S	ENST00000318158.6	37	c.115	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354731	0.82243	.	.	ENSG00000137106	ENST00000377824;ENST00000318158	D;D	0.82711	-1.64;-1.64	5.98	5.98	0.97165	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.72624	2.21	0.80722	D	1	P	0.39404	0.672	B	0.42916	0.402	D	0.86561	0.1841	10	0.72032	D	0.01	0.7013	20.1161	0.97934	0.0:1.0:0.0:0.0	.	39	Q9UBQ7	GRHPR_HUMAN	S	39	ENSP00000367055:P39S;ENSP00000313432:P39S	ENSP00000313432:P39S	P	+	1	0	GRHPR	37414873	0.980000	0.34600	1.000000	0.80357	0.502000	0.33828	3.425000	0.52771	2.861000	0.98227	0.650000	0.86243	CCC	GRHPR	-	pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000137106		0.677	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1		0.00	93	0	C	NM_012203		37424873	+1			no_errors	ENST00000318158	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
GRID1	2894	genome.wustl.edu	37	10	87361822	87361822	+	3'UTR	SNP	T	T	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:87361822T>G	ENST00000327946.7	-	0	3323				GRID1_ENST00000536331.1_3'UTR|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGTGTTTTTTTACTGACTTCG	0.323										Multiple Myeloma(13;0.14)																																							0																																										SO:0001624	3_prime_UTR_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.*208A>C	10.37:g.87361822T>G			B3KXD5|B7Z7L0|Q8IXT3	RNA	SNP	-	NULL	ENST00000327946.7	37	NULL	CCDS31236.1	10																																																																																			GRID1	-	-	ENSG00000182771		0.323	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0.00	61	0	T	XM_043613		87361822	-1	tier1	-	no_errors	ENST00000552278	ensembl	human	known	74_37	rna	60.49	32	49	SNP	1.000	G
GRID1	2894	genome.wustl.edu	37	10	87361885	87361885	+	3'UTR	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:87361885T>A	ENST00000327946.7	-	0	3260				GRID1_ENST00000536331.1_3'UTR|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGTCATTATTTACACATATG	0.328										Multiple Myeloma(13;0.14)																																							0																																										SO:0001624	3_prime_UTR_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.*145A>T	10.37:g.87361885T>A			B3KXD5|B7Z7L0|Q8IXT3	RNA	SNP	-	NULL	ENST00000327946.7	37	NULL	CCDS31236.1	10																																																																																			GRID1	-	-	ENSG00000182771		0.328	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0.00	73	0	T	XM_043613		87361885	-1	tier1	-	no_errors	ENST00000552278	ensembl	human	known	74_37	rna	55.38	29	36	SNP	1.000	A
GRIK3	2899	genome.wustl.edu	37	1	37325592	37325592	+	Silent	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:37325592G>T	ENST00000373091.3	-	6	829	c.813C>A	c.(811-813)ccC>ccA	p.P271P	GRIK3_ENST00000373093.4_Silent_p.P271P|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	271					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGTAGCGGTAGGGCTCCAGGT	0.567																																																	0													94.0	100.0	98.0					1																	37325592		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.813C>A	1.37:g.37325592G>T			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P271	ENST00000373091.3	37	c.813	CCDS416.1	1																																																																																			GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0.00	50	0	G	NM_000831		37325592	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T
GRM1	2911	genome.wustl.edu	37	6	146755745	146755745	+	Missense_Mutation	SNP	C	C	T	rs377413746		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:146755745C>T	ENST00000282753.1	+	8	3633	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	GRM1_ENST00000361719.2_Missense_Mutation_p.A1133V|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1133					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GACCTGCAGGCGGCCAGCAAA	0.642																																																	0								C	VAL/ALA,	1,4403	2.1+/-5.4	0,1,2201	50.0	55.0	53.0		3398,	3.8	0.0	6		53	0,8600		0,0,4300	no	missense,utr-3	GRM1	NM_000838.3,NM_001114329.1	64,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,	1133/1195,	146755745	1,13003	2202	4300	6502	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3398C>T	6.37:g.146755745C>T	ENSP00000282753:p.Ala1133Val		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.A1133V	ENST00000282753.1	37	c.3398	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916737	0.33815	2.27E-4	0.0	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.89196	-2.48;-2.48	4.72	3.85	0.44370	.	0.947938	0.08746	N	0.899819	T	0.76870	0.4048	L	0.43152	1.355	0.80722	D	1	D	0.57899	0.981	B	0.40256	0.324	T	0.70791	-0.4776	10	0.29301	T	0.29	.	11.3058	0.49334	0.0:0.9154:0.0:0.0846	.	1133	Q13255	GRM1_HUMAN	V	1133	ENSP00000354896:A1133V;ENSP00000282753:A1133V	ENSP00000282753:A1133V	A	+	2	0	GRM1	146797438	0.101000	0.21875	0.047000	0.18901	0.982000	0.71751	0.645000	0.24782	1.239000	0.43787	0.655000	0.94253	GCG	GRM1	-	NULL	ENSG00000152822		0.642	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	41	0	C	NM_000838		146755745	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.546	T
GVINP1	387751	genome.wustl.edu	37	11	6740194	6740194	+	RNA	SNP	T	T	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:6740194T>G	ENST00000526769.3	-	0	3010					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										AAAATTGTCATCTGAATATCC	0.428																																																	0																																												0			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6740194T>G			A6NFL2|Q9H8N5	RNA	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-	ENSG00000254838		0.428	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	-	0.00	35	0	T	NR_003945		6740194	-1	tier1	-	no_errors	ENST00000526769	ensembl	human	known	74_37	rna	9.76	37	4	SNP	1.000	G
HCN1	348980	genome.wustl.edu	37	5	45303785	45303785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:45303785delT	ENST00000303230.4	-	6	1591	c.1534delA	c.(1534-1536)atgfs	p.M512fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	512					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.M512fs*17(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATGAAATACATTTTTTTACCC	0.398																																																	1	Insertion - Frameshift(1)	large_intestine(1)											110.0	107.0	108.0					5																	45303785		2203	4300	6503	SO:0001589	frameshift_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1534delA	5.37:g.45303785delT	ENSP00000307342:p.Met512fs			Frame_Shift_Del	DEL	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.M512fs	ENST00000303230.4	37	c.1534	CCDS3952.1	5																																																																																			HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000164588		0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1		0.00	57	0	T	NM_021072		45303785	-1	tier1		no_errors	ENST00000303230	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-
HIST1H2AE	3012	genome.wustl.edu	37	6	26217425	26217427	+	In_Frame_Del	DEL	AAG	AAG	-	rs563842312	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:26217425_26217427delAAG	ENST00000303910.2	+	1	261_263	c.223_225delAAG	c.(223-225)aagdel	p.K76del	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	76						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K75N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCGCGACAATAAGAAGACCCGCA	0.621																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	0			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.223_225delAAG	6.37:g.26217428_26217430delAAG	ENSP00000303373:p.Lys76del		P28001|Q76P63	In_Frame_Del	DEL	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K76in_frame_del	ENST00000303910.2	37	c.223_225	CCDS4595.1	6																																																																																			HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000168274		0.621	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1		0.00	121	0	AAG	NM_021052		26217427	+1	tier1		no_errors	ENST00000303910	ensembl	human	known	74_37	in_frame_del	22.63	106	31	DEL	1.000:1.000:1.000	-
HMCN1	83872	genome.wustl.edu	37	1	186115011	186115011	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:186115011G>A	ENST00000271588.4	+	93	14793	c.14564G>A	c.(14563-14565)gGa>gAa	p.G4855E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4855E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4855	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTGTCCCGGAGACACTACT	0.522																																																	0													77.0	64.0	69.0					1																	186115011		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14564G>A	1.37:g.186115011G>A	ENSP00000271588:p.Gly4855Glu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.G4855E	ENST00000271588.4	37	c.14564	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677664	0.88445	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.54866	0.55;0.55	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83412	0.0028	10	0.87932	D	0	.	19.392	0.94587	0.0:0.0:1.0:0.0	.	4855	Q96RW7	HMCN1_HUMAN	E	4855	ENSP00000271588:G4855E;ENSP00000356462:G4855E	ENSP00000271588:G4855E	G	+	2	0	HMCN1	184381634	1.000000	0.71417	0.952000	0.39060	0.500000	0.33767	9.156000	0.94705	2.580000	0.87095	0.591000	0.81541	GGA	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.522	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	43	0	G	NM_031935		186115011	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	A
HMGB1P5	10354	genome.wustl.edu	37	3	22423956	22423956	+	RNA	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:22423956G>A	ENST00000451497.1	+	0	521									high mobility group box 1 pseudogene 5																		GAATAAGTTGGTTGTAGCGCA	0.368																																																	0																																												0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22423956G>A				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-	ENSG00000132967		0.368	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	-	0.00	35	0	G	NG_000897		22423956	+1	tier1	-	no_errors	ENST00000451497	ensembl	human	known	74_37	rna	20.00	28	7	SNP	0.967	A
HN1L	90861	genome.wustl.edu	37	16	1735557	1735557	+	Silent	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:1735557T>C	ENST00000248098.3	+	2	219	c.162T>C	c.(160-162)ccT>ccC	p.P54P	HN1L_ENST00000561516.1_Silent_p.P54P|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000562684.1_Silent_p.P82P|HN1L_ENST00000569765.1_Silent_p.P82P|HN1L_ENST00000569256.1_Intron|HN1L_ENST00000382711.5_Silent_p.P38P|HN1L_ENST00000382710.4_Silent_p.P42P	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	54						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						CAGAAGAACCTCAGAACATAC	0.428																																																	0													81.0	83.0	82.0					16																	1735557		2199	4300	6499	SO:0001819	synonymous_variant	0			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.162T>C	16.37:g.1735557T>C			B1AJY2|Q6EIC7	Silent	SNP	NULL	p.P54	ENST00000248098.3	37	c.162	CCDS10441.1	16																																																																																			HN1L	-	NULL	ENSG00000206053		0.428	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2		0.00	61	0	T	NM_144570		1735557	+1			no_errors	ENST00000248098	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.992	C
HNRNPH3	3189	genome.wustl.edu	37	10	70096998	70096999	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:70096998_70096999delAT	ENST00000265866.7	+	2	185_186	c.20_21delAT	c.(19-21)catfs	p.H7fs	HNRNPH3_ENST00000354695.5_Frame_Shift_Del_p.H7fs|HNRNPH3_ENST00000441000.2_Frame_Shift_Del_p.H7fs|HNRNPH3_ENST00000469172.1_3'UTR	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	7					epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GTTATGAAACATAATGGTCCAA	0.376																																																	0																																										SO:0001589	frameshift_variant	0				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.20_21delAT	10.37:g.70096998_70096999delAT	ENSP00000265866:p.His7fs		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H7fs	ENST00000265866.7	37	c.20_21	CCDS7278.1	10																																																																																			HNRNPH3	-	NULL	ENSG00000096746		0.376	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1		0.00	60	0	AT			70096999	+1	tier1		no_errors	ENST00000265866	ensembl	human	known	74_37	frame_shift_del	26.00	74	26	DEL	1.000:1.000	-
HOPX	84525	genome.wustl.edu	37	4	57522152	57522152	+	Silent	SNP	G	G	A	rs11555051		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:57522152G>A	ENST00000337881.7	-	2	671	c.15C>T	c.(13-15)acC>acT	p.T5T	HOPX_ENST00000317745.7_Silent_p.T5T|HOPX_ENST00000556614.2_Silent_p.T5T|HOPX_ENST00000503639.3_Silent_p.T5T|HOPX_ENST00000553379.2_Silent_p.T5T|HOPX_ENST00000555760.2_Silent_p.T5T|HOPX_ENST00000554144.1_Silent_p.T23T|HOPX_ENST00000381260.3_Silent_p.T5T|HOPX_ENST00000556376.2_Silent_p.T5T|HOPX_ENST00000381255.3_Silent_p.T5T|HOPX_ENST00000508121.1_Silent_p.T23T|HOPX_ENST00000420433.1_Silent_p.T23T	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	5					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GGCCGCTCGCGGTCTCCGCCG	0.692																																																	0													52.0	47.0	49.0					4																	57522152		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.15C>T	4.37:g.57522152G>A			A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Silent	SNP	superfamily_Homeodomain-like	p.T23	ENST00000337881.7	37	c.69	CCDS3507.1	4																																																																																			HOPX	-	superfamily_Homeodomain-like	ENSG00000171476		0.692	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	HGNC	protein_coding	OTTHUMT00000250689.4	-	0.00	47	0	G			57522152	-1	tier1	-	no_errors	ENST00000554144	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.000	A
HOXA4	3201	genome.wustl.edu	37	7	27170323	27170323	+	Silent	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:27170323G>T	ENST00000360046.5	-	1	95	c.30C>A	c.(28-30)tcC>tcA	p.S10S	HOXA-AS2_ENST00000521159.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Silent_p.S10S|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000517550.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	10					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGATGTAGTTGGAGTTTATCA	0.577																																																	0													16.0	16.0	16.0					7																	27170323		2200	4294	6494	SO:0001819	synonymous_variant	0				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.30C>A	7.37:g.27170323G>T			A4D180|O43366	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S10	ENST00000360046.5	37	c.30	CCDS5405.1	7																																																																																			HOXA4	-	NULL	ENSG00000197576		0.577	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	-	0.00	38	0	G			27170323	-1	tier1	-	no_errors	ENST00000360046	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T
HOXC12	3228	genome.wustl.edu	37	12	54348838	54348838	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:54348838T>C	ENST00000243103.3	+	1	221	c.125T>C	c.(124-126)cTg>cCg	p.L42P	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	42					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CTGCCTTCGCTGTCCTACCCA	0.677																																																	0													28.0	30.0	30.0					12																	54348838		2201	4300	6501	SO:0001583	missense	0			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.125T>C	12.37:g.54348838T>C	ENSP00000243103:p.Leu42Pro		Q9BXJ6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L42P	ENST00000243103.3	37	c.125	CCDS8866.1	12	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366349	0.61513	.	.	ENSG00000123407	ENST00000243103	D	0.95588	-3.75	2.85	2.85	0.33270	.	0.000000	0.64402	D	0.000018	D	0.97284	0.9112	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97012	0.9737	10	0.59425	D	0.04	.	10.7784	0.46363	0.0:0.0:0.0:1.0	.	42	P31275	HXC12_HUMAN	P	42	ENSP00000243103:L42P	ENSP00000243103:L42P	L	+	2	0	HOXC12	52635105	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.272000	0.78516	1.550000	0.49438	0.374000	0.22700	CTG	HOXC12	-	NULL	ENSG00000123407		0.677	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXC12	HGNC	protein_coding	OTTHUMT00000358868.2	-	0.00	96	0	T	NM_173860		54348838	+1	tier1	-	no_errors	ENST00000243103	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	C
HSPG2	3339	genome.wustl.edu	37	1	22201217	22201217	+	Silent	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:22201217A>G	ENST00000374695.3	-	27	3499	c.3420T>C	c.(3418-3420)tgT>tgC	p.C1140C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1140	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				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)	AGCCTGTGTCACAGTCCTGGG	0.637																																																	0													34.0	37.0	36.0					1																	22201217		2203	4298	6501	SO:0001819	synonymous_variant	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.3420T>C	1.37:g.22201217A>G			Q16287|Q5SZI3|Q9H3V5	Silent	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.C1140	ENST00000374695.3	37	c.3420	CCDS30625.1	1																																																																																			HSPG2	-	pfam_EGF_laminin	ENSG00000142798		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0.00	88	0	A	NM_005529		22201217	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	G
IGHV1OR21-1	390530	genome.wustl.edu	37	21	10862949	10862949	+	RNA	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr21:10862949A>G	ENST00000559480.1	+	0	245							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TATGCACAGAAGTTCCAGGCC	0.532																																																	0													309.0	304.0	306.0					21																	10862949		2185	4278	6463			0					21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862949A>G				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K82R	ENST00000559480.1	37	c.245		21																																																																																			IGHV1OR21-1	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000169861		0.532	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IGHV1OR21-1	HGNC	IG_V_gene		-	0.00	307	0	A	NG_011680		10862949	+1	tier1	-	no_errors	ENST00000559480	ensembl	human	known	74_37	missense	14.19	248	41	SNP	0.002	G
IL9R	3581	genome.wustl.edu	37	X	155234213	155234213	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:155234213C>A	ENST00000244174.5	+	5	741	c.562C>A	c.(562-564)Cag>Aag	p.Q188K	IL9R_ENST00000369423.2_Missense_Mutation_p.Q223K|IL9R_ENST00000540897.1_Missense_Mutation_p.Q213K|IL9R_ENST00000424344.3_Missense_Mutation_p.Q167K	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	188	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTCAAGAAGCAGGAAGAGGC	0.567																																																	0													105.0	93.0	97.0					X																	155234213		2203	4296	6499	SO:0001583	missense	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.562C>A	X.37:g.155234213C>A	ENSP00000244174:p.Gln188Lys		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.Q188K	ENST00000244174.5	37	c.562	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	9.720	1.159444	0.21454	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	1.44	0.526	0.17078	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.710160	0.12669	N	0.448928	T	0.37679	0.1012	.	.	.	0.09310	N	1	P;P;P	0.41673	0.51;0.649;0.759	B;B;B	0.36666	0.185;0.23;0.186	T	0.30416	-0.9979	9	0.07644	T	0.81	-21.5245	5.208	0.15300	0.0:0.6343:0.3656:0.0	.	167;188;223	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	K	188;167;167;223;213	ENSP00000244174:Q188K;ENSP00000388918:Q167K;ENSP00000358431:Q223K;ENSP00000438112:Q213K	ENSP00000244174:Q188K	Q	+	1	0	IL9R	154887407	0.959000	0.32827	0.934000	0.37439	0.432000	0.31715	0.530000	0.23036	0.107000	0.17824	-0.888000	0.02935	CAG	IL9R	-	superfamily_Fibronectin_type3	ENSG00000124334		0.567	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0.00	124	0	C	NM_002186		155234213	+1	tier1	-	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	19.39	133	32	SNP	0.921	A
IQCF3	401067	genome.wustl.edu	37	3	51864628	51864628	+	Silent	SNP	G	G	A	rs374017167		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:51864628G>A	ENST00000456080.1	+	8	1441	c.276G>A	c.(274-276)gcG>gcA	p.A92A	IQCF3_ENST00000437810.2_Silent_p.A92A|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Silent_p.A92A|IQCF3_ENST00000440739.2_Silent_p.A92A|IQCF3_ENST00000444293.1_Missense_Mutation_p.D56N			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	92	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAGCAGGCGACGGTCAAGC	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20132	0.0		0.0	False		,,,				2504	0.0																0								G	,	12,4362		0,12,2175	85.0	96.0	92.0		276,276	-9.4	0.0	3		92	1,8553		0,1,4276	no	coding-synonymous,coding-synonymous	IQCF3	NM_001085479.2,NM_001207023.1	,	0,13,6451	AA,AG,GG		0.0117,0.2743,0.1006	,	92/155,92/155	51864628	13,12915	2187	4277	6464	SO:0001819	synonymous_variant	0			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.276G>A	3.37:g.51864628G>A			B2RUV0	Missense_Mutation	SNP	NULL	p.D56N	ENST00000456080.1	37	c.166	CCDS46837.1	3	.	.	.	.	.	.	.	.	.	.	g	10.14	1.268845	0.23136	0.002743	1.17E-4	ENSG00000229972	ENST00000444293	.	.	.	4.72	-9.45	0.00600	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55198	-0.8178	5	0.87932	D	0	.	8.9697	0.35899	0.152:0.2323:0.6157:0.0	.	.	.	.	N	56	.	ENSP00000402530:D56N	D	+	1	0	IQCF3	51839668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.171000	0.00281	-1.522000	0.01769	-1.021000	0.02439	GAC	IQCF3	-	NULL	ENSG00000229972		0.612	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF3	HGNC	protein_coding	OTTHUMT00000346579.2	-	0.00	53	0	G	NM_001085479		51864628	+1	tier1	-	no_errors	ENST00000444293	ensembl	human	putative	74_37	missense	64.58	17	31	SNP	0.000	A
IQGAP2	10788	genome.wustl.edu	37	5	75893335	75893335	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:75893335A>G	ENST00000274364.6	+	10	1276	c.979A>G	c.(979-981)Aag>Gag	p.K327E	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	327					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GCTTGCACTGAAGAAACCAGA	0.507																																																	0													118.0	110.0	113.0					5																	75893335		2203	4300	6503	SO:0001583	missense	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.979A>G	5.37:g.75893335A>G	ENSP00000274364:p.Lys327Glu		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.K327E	ENST00000274364.6	37	c.979	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	A	3.401	-0.122349	0.06795	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.06371	3.31;3.31;3.31	5.79	-4.7	0.03288	.	0.608600	0.18245	N	0.147132	T	0.03220	0.0094	L	0.27053	0.805	0.43061	D	0.99468	B	0.02656	0.0	B	0.08055	0.003	T	0.48927	-0.8991	10	0.07813	T	0.8	-5.5083	9.4699	0.38835	0.2717:0.5012:0.2271:0.0	.	327	Q13576	IQGA2_HUMAN	E	327;300;277	ENSP00000274364:K327E;ENSP00000423672:K300E;ENSP00000421097:K277E	ENSP00000274364:K327E	K	+	1	0	IQGAP2	75929091	0.714000	0.27936	0.406000	0.26421	0.141000	0.21300	0.017000	0.13399	-1.125000	0.02932	-0.321000	0.08615	AAG	IQGAP2	-	NULL	ENSG00000145703		0.507	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	-	0.00	30	0	A	NM_006633		75893335	+1	tier1	-	no_errors	ENST00000274364	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.605	G
ITGB7	3695	genome.wustl.edu	37	12	53585372	53585372	+	Missense_Mutation	SNP	G	G	A	rs141610554	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:53585372G>A	ENST00000267082.5	-	16	2596	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	ITGB7_ENST00000338737.4_Missense_Mutation_p.R641C|ITGB7_ENST00000422257.3_Missense_Mutation_p.R789C|ITGB7_ENST00000550743.2_Missense_Mutation_p.R641C	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	789					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGAAAGCGAGGATTGATG	0.507																																																	0								G	CYS/ARG	0,4406		0,0,2203	201.0	183.0	189.0		2365	-0.1	0.0	12	dbSNP_134	189	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ITGB7	NM_000889.1	180	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging	789/799	53585372	11,12995	2203	4300	6503	SO:0001583	missense	0				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2365C>T	12.37:g.53585372G>A	ENSP00000267082:p.Arg789Cys		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R789C	ENST00000267082.5	37	c.2365	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783281	0.70222	0.0	0.001279	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.88586	-2.4;-2.4;-2.4	4.05	-0.0984	0.13628	Integrin beta subunit, cytoplasmic (2);	0.989854	0.08192	N	0.983718	D	0.87661	0.6233	L	0.56769	1.78	0.09310	N	1	D	0.61697	0.99	P	0.51266	0.664	T	0.76288	-0.3014	10	0.72032	D	0.01	.	2.3076	0.04178	0.1835:0.1508:0.5111:0.1547	.	789	P26010	ITB7_HUMAN	C	789;789;641	ENSP00000408741:R789C;ENSP00000267082:R789C;ENSP00000345501:R641C	ENSP00000267082:R789C	R	-	1	0	ITGB7	51871639	.	.	0.006000	0.13384	0.791000	0.44710	.	.	-0.009000	0.14296	-0.253000	0.11424	CGC	ITGB7	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom	ENSG00000139626		0.507	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	-	0.00	46	0	G			53585372	-1	tier1	rs141610554	no_errors	ENST00000267082	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.004	A
ITPR3	3710	genome.wustl.edu	37	6	33646233	33646233	+	Silent	SNP	G	G	A	rs543118868		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:33646233G>A	ENST00000374316.5	+	30	4744	c.3684G>A	c.(3682-3684)acG>acA	p.T1228T	ITPR3_ENST00000605930.1_Silent_p.T1228T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1228					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGCGCTACACGCACCAGTTCC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13722	0.0		0.0	False		,,,				2504	0.0																0													83.0	75.0	78.0					6																	33646233		2203	4300	6503	SO:0001819	synonymous_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3684G>A	6.37:g.33646233G>A			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.T1228	ENST00000374316.5	37	c.3684	CCDS4783.1	6																																																																																			ITPR3	-	pfam_Ca-rel_channel	ENSG00000096433		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0.00	37	0	G	NM_002224		33646233	+1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	silent	36.11	23	13	SNP	0.002	A
JAK3	3718	genome.wustl.edu	37	19	17952208	17952208	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:17952208C>A	ENST00000527670.1	-	7	1161	c.1132G>T	c.(1132-1134)Ggc>Tgc	p.G378C	JAK3_ENST00000534444.1_Missense_Mutation_p.G378C|JAK3_ENST00000458235.1_Missense_Mutation_p.G378C|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	378	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GTGATGGGGCCGTGGCACTGC	0.657		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													15.0	15.0	15.0					19																	17952208		2166	4219	6385	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1132G>T	19.37:g.17952208C>A	ENSP00000432511:p.Gly378Cys		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G378C	ENST00000527670.1	37	c.1132	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349766	0.82132	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.64991	-0.13;-0.13;-0.13	4.74	4.74	0.60224	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83917	0.0299	10	0.87932	D	0	-34.716	15.1911	0.73044	0.0:1.0:0.0:0.0	.	378;378;378	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	C	378	ENSP00000391676:G378C;ENSP00000432511:G378C;ENSP00000436421:G378C	ENSP00000413248:G378C	G	-	1	0	JAK3	17813208	1.000000	0.71417	0.986000	0.45419	0.739000	0.42172	7.020000	0.76419	2.195000	0.70347	0.313000	0.20887	GGC	JAK3	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	ENSG00000105639		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0.00	61	0	C	NM_000215		17952208	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
KCNG1	3755	genome.wustl.edu	37	20	49626457	49626457	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:49626457C>T	ENST00000371571.4	-	2	704	c.419G>A	c.(418-420)cGc>cAc	p.R140H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.R140H|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	140					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCACATCTCGCGCAGCAGCCG	0.647																																																	0													30.0	30.0	30.0					20																	49626457		2203	4299	6502	SO:0001583	missense	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.419G>A	20.37:g.49626457C>T	ENSP00000360626:p.Arg140His		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R140H	ENST00000371571.4	37	c.419	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.375928	0.95923	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89850	0.4009	9	.	.	.	.	19.7261	0.96164	0.0:1.0:0.0:0.0	.	140;140	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	H	140	ENSP00000360626:R140H;ENSP00000379338:R140H;ENSP00000394075:R140H;ENSP00000394093:R140H	.	R	-	2	0	KCNG1	49059864	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	5.999000	0.70665	2.667000	0.90743	0.561000	0.74099	CGC	KCNG1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	ENSG00000026559		0.647	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	-	0.00	50	0	C	NM_002237		49626457	-1	tier1	-	no_errors	ENST00000371571	ensembl	human	known	74_37	missense	27.14	51	19	SNP	1.000	T
KCNJ15	3772	genome.wustl.edu	37	21	39671196	39671196	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr21:39671196C>T	ENST00000328656.4	+	4	316	c.13C>T	c.(13-15)Cac>Tac	p.H5Y	KCNJ15_ENST00000398932.1_Missense_Mutation_p.H5Y|KCNJ15_ENST00000398930.1_Missense_Mutation_p.H5Y|KCNJ15_ENST00000398934.1_Missense_Mutation_p.H5Y|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H5Y	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	5					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GGATGCCATTCACATCGGCAT	0.512																																																	0													47.0	47.0	47.0					21																	39671196		2203	4300	6503	SO:0001583	missense	0			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.13C>T	21.37:g.39671196C>T	ENSP00000331698:p.His5Tyr		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1	p.H5Y	ENST00000328656.4	37	c.13	CCDS13656.1	21	.	.	.	.	.	.	.	.	.	.	C	2.475	-0.321057	0.05386	.	.	ENSG00000157551	ENST00000549158;ENST00000549805;ENST00000547341;ENST00000549932;ENST00000547595;ENST00000548700;ENST00000551422;ENST00000328656;ENST00000398928;ENST00000398925;ENST00000443341;ENST00000417042;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	T;T;T;T;T;T;D;D;T;T;D;D;D;D;D;D;D	0.94232	0.57;0.57;0.57;0.57;0.57;0.57;-2.47;-3.01;-0.21;0.48;-2.47;-2.47;-2.85;-2.47;-2.47;-3.01;-3.38	4.94	3.1	0.35709	.	2.978100	0.01323	N	0.010983	D	0.92247	0.7541	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.77958	-0.2392	10	0.52906	T	0.07	.	15.0029	0.71489	0.2992:0.7008:0.0:0.0	.	5	Q99712	IRK15_HUMAN	Y	5	ENSP00000448770:H5Y;ENSP00000447111:H5Y;ENSP00000448676:H5Y;ENSP00000450254:H5Y;ENSP00000448886:H5Y;ENSP00000449419:H5Y;ENSP00000331698:H5Y;ENSP00000381902:H5Y;ENSP00000381899:H5Y;ENSP00000413013:H5Y;ENSP00000381911:H5Y;ENSP00000381905:H5Y;ENSP00000414487:H5Y;ENSP00000381904:H5Y;ENSP00000381907:H5Y;ENSP00000381901:H5Y;ENSP00000400849:H5Y	ENSP00000331698:H5Y	H	+	1	0	KCNJ15	38593066	0.124000	0.22315	0.002000	0.10522	0.014000	0.08584	1.090000	0.30902	0.582000	0.29556	0.563000	0.77884	CAC	KCNJ15	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3	ENSG00000157551		0.512	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ15	HGNC	protein_coding	OTTHUMT00000207181.2	-	0.00	54	0	C	NM_002243		39671196	+1	tier1	-	no_errors	ENST00000328656	ensembl	human	known	74_37	missense	35.00	24	14	SNP	0.002	T
KCNN1	3780	genome.wustl.edu	37	19	18096255	18096255	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:18096255G>A	ENST00000222249.9	+	6	1371	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	351					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CTGCTCACTGGCATCATGGTA	0.607																																																	0													108.0	113.0	112.0					19																	18096255		2196	4291	6487	SO:0001583	missense	0			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1052G>A	19.37:g.18096255G>A	ENSP00000476519:p.Gly351Asp		Q5KR10|Q6DJU4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.G351D	ENST00000222249.9	37	c.1052		19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761719	0.89932	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.88	4.88	0.63580	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.87556	0.2468	9	0.87932	D	0	-31.2634	15.5336	0.75983	0.0:0.0:1.0:0.0	.	351	Q92952	KCNN1_HUMAN	D	368;351	.	ENSP00000222249:G368D	G	+	2	0	KCNN1	17957255	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	9.729000	0.98795	2.251000	0.74343	0.491000	0.48974	GGC	KCNN1	-	pfam_2pore_dom_K_chnl_dom	ENSG00000105642		0.607	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	HGNC	protein_coding	OTTHUMT00000471896.2	-	0.00	28	0	G	NM_002248		18096255	+1	tier1	-	no_errors	ENST00000222249	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A
KCNN2	3781	genome.wustl.edu	37	5	113740309	113740309	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:113740309G>T	ENST00000512097.3	+	4	1775	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.D253Y			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	253					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AACCACCGCTGATGTGGATAT	0.438																																																	0													155.0	156.0	155.0					5																	113740309		2202	4300	6502	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.757G>T	5.37:g.113740309G>T	ENSP00000427120:p.Asp253Tyr		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.D253Y	ENST00000512097.3	37	c.757	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435462	0.62955	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98602	-5.02;-5.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	M	0.75447	2.3	0.80722	D	1	B	0.32620	0.378	B	0.33690	0.168	D	0.97712	1.0191	10	0.72032	D	0.01	-4.198	18.8127	0.92064	0.0:0.0:1.0:0.0	.	253	Q9H2S1	KCNN2_HUMAN	Y	253	ENSP00000427120:D253Y;ENSP00000264773:D253Y	ENSP00000264773:D253Y	D	+	1	0	KCNN2	113768208	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.667000	0.98616	2.536000	0.85505	0.561000	0.74099	GAT	KCNN2	-	NULL	ENSG00000080709		0.438	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	-	0.00	60	0	G	NM_021614		113740309	+1	tier1	-	no_errors	ENST00000264773	ensembl	human	known	74_37	missense	94.74	2	36	SNP	1.000	T
KIAA0319	9856	genome.wustl.edu	37	6	24566864	24566864	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:24566864G>A	ENST00000378214.3	-	14	2777	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S	KIAA0319_ENST00000537886.1_Silent_p.S751S|KIAA0319_ENST00000430948.2_Silent_p.S706S|KIAA0319_ENST00000543707.1_Silent_p.S751S|KIAA0319_ENST00000535378.1_Silent_p.S742S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	751	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCACAGATAGGACACAATTC	0.483																																																	0													108.0	104.0	105.0					6																	24566864		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2253C>T	6.37:g.24566864G>A			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S751	ENST00000378214.3	37	c.2253	CCDS34348.1	6																																																																																			KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.483	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1		0.00	30	0	G	NM_014809		24566864	-1			no_errors	ENST00000378214	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A
KIAA0319	9856	genome.wustl.edu	37	6	24596453	24596453	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:24596453A>G	ENST00000378214.3	-	3	973	c.449T>C	c.(448-450)cTa>cCa	p.L150P	KIAA0319_ENST00000537886.1_Missense_Mutation_p.L150P|KIAA0319_ENST00000430948.2_Missense_Mutation_p.L105P|KIAA0319_ENST00000543707.1_Missense_Mutation_p.L150P|KIAA0319_ENST00000535378.1_Missense_Mutation_p.L141P	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	150					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CATCTCCTCTAGGCCCCAATC	0.577																																																	0													80.0	85.0	83.0					6																	24596453		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.449T>C	6.37:g.24596453A>G	ENSP00000367459:p.Leu150Pro		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.L150P	ENST00000378214.3	37	c.449	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	A	0.819	-0.749440	0.03065	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08282	3.11;3.12;3.12;3.11;3.11	4.43	-0.864	0.10666	.	0.611469	0.13113	N	0.412849	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	0.999998	B;B;B	0.14438	0.01;0.004;0.002	B;B;B	0.15484	0.013;0.004;0.003	T	0.47535	-0.9110	10	0.22109	T	0.4	-0.0901	4.0493	0.09788	0.5795:0.0:0.267:0.1535	.	150;141;150	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	P	150;141;105;150;150	ENSP00000439700:L150P;ENSP00000442403:L141P;ENSP00000401086:L105P;ENSP00000367459:L150P;ENSP00000437656:L150P	ENSP00000367459:L150P	L	-	2	0	KIAA0319	24704432	0.000000	0.05858	0.003000	0.11579	0.041000	0.13682	0.776000	0.26704	-0.166000	0.10890	0.421000	0.28195	CTA	KIAA0319	-	NULL	ENSG00000137261		0.577	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1		0.00	30	0	A	NM_014809		24596453	-1			no_errors	ENST00000378214	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	G
KIAA0907	22889	genome.wustl.edu	37	1	155891383	155891383	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:155891383G>T	ENST00000368321.3	-	10	1072	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	KIAA0907_ENST00000482337.1_Intron|SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.P350H|KIAA0907_ENST00000368319.3_Intron	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	350	Pro-rich.						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)			TGGTGGTTGAGGAGGGACACT	0.458																																																	0													122.0	120.0	121.0					1																	155891383		2203	4300	6503	SO:0001583	missense	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.1049C>A	1.37:g.155891383G>T	ENSP00000357304:p.Pro350His		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.P350H	ENST00000368321.3	37	c.1049	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022397	0.54683	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	.	.	.	5.62	5.62	0.85841	.	0.053778	0.85682	D	0.000000	T	0.30198	0.0757	N	0.19112	0.55	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.49953	0.627;0.627	T	0.05937	-1.0855	9	0.15066	T	0.55	-9.5808	12.5878	0.56426	0.0765:0.0:0.9235:0.0	.	350;350	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	H	350	.	ENSP00000357303:P350H	P	-	2	0	KIAA0907	154158007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.070000	0.76763	2.644000	0.89710	0.491000	0.48974	CCT	KIAA0907	-	NULL	ENSG00000132680		0.458	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	-	0.00	41	0	G	NM_014949		155891383	-1	tier1	-	no_errors	ENST00000368321	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
CFAP97	57587	genome.wustl.edu	37	4	186112044	186112044	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:186112044A>T	ENST00000458385.2	-	2	426	c.307T>A	c.(307-309)Ttg>Atg	p.L103M	KIAA1430_ENST00000514798.1_Missense_Mutation_p.L103M|KIAA1430_ENST00000296775.6_Missense_Mutation_p.L103M	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		103										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		ACATCACACAATTTTTTTGAT	0.368																																																	0													114.0	99.0	104.0					4																	186112044		1838	4105	5943	SO:0001583	missense	0																														ENST00000458385.2:c.307T>A	4.37:g.186112044A>T	ENSP00000409964:p.Leu103Met		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	NULL	p.L103M	ENST00000458385.2	37	c.307	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	A	8.481	0.859720	0.17178	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775;ENST00000503223	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.46	-8.41	0.00961	.	0.603693	0.14876	N	0.293227	T	0.26484	0.0647	L	0.50333	1.59	0.09310	N	1	B;B	0.25904	0.137;0.049	B;B	0.21546	0.035;0.016	T	0.13415	-1.0510	10	0.33141	T	0.24	1.2489	1.3221	0.02118	0.3345:0.0847:0.2601:0.3207	.	103;103	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	M	103	ENSP00000409964:L103M;ENSP00000423312:L103M;ENSP00000296775:L103M;ENSP00000420832:L103M	ENSP00000296775:L103M	L	-	1	2	KIAA1430	186349038	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.707000	0.05041	-0.882000	0.03987	0.533000	0.62120	TTG	KIAA1430	-	NULL	ENSG00000164323		0.368	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	-	0.00	51	0	A			186112044	-1	tier1	-	no_errors	ENST00000296775	ensembl	human	known	74_37	missense	42.59	31	23	SNP	0.000	T
CCDC183	84960	genome.wustl.edu	37	9	139701529	139701529	+	Intron	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:139701529C>T	ENST00000338005.6	+	13	1521				RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000311502.7_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GTACAGGCCCCGGAACTGGGG	0.642																																																	0													24.0	28.0	27.0					9																	139701529		1908	4108	6016	SO:0001627	intron_variant	0																														ENST00000338005.6:c.1486+11C>T	9.37:g.139701529C>T			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	RNA	SNP	-	NULL	ENST00000338005.6	37	NULL	CCDS43906.1	9																																																																																			KIAA1984-AS1	-	-	ENSG00000228544		0.642	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984-AS1	HGNC	protein_coding	OTTHUMT00000354899.1		0.00	25	0	C			139701529	-1			no_errors	ENST00000414656	ensembl	human	known	74_37	rna	10.81	33	4	SNP	0.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113376116	113376116	+	Silent	SNP	C	C	T	rs112313093|rs59601191		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1471Q			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgttgctgctgctgctgct	0.498																																																	0													63.0	72.0	69.0					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4413G>A	3.37:g.113376116C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1471	ENST00000478658.1	37	c.4413	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0.00	39	0	C	NM_001009899		113376116	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T
KIF22	3835	genome.wustl.edu	37	16	29808342	29808342	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:29808342C>T	ENST00000160827.4	+	2	239	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_5'UTR|KIF22_ENST00000561482.1_5'UTR|KIF22_ENST00000569382.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	67	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCCCTGTGTGCGGGGCATGGA	0.582																																																	0													115.0	107.0	110.0					16																	29808342		2197	4296	6493	SO:0001583	missense	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.199C>T	16.37:g.29808342C>T	ENSP00000160827:p.Arg67Trp		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R67W	ENST00000160827.4	37	c.199	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502003	0.85176	.	.	ENSG00000079616	ENST00000160827	T	0.73258	-0.73	5.8	5.8	0.92144	Kinesin, motor domain (4);	.	.	.	.	T	0.82235	0.4993	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.83134	-0.0112	9	0.87932	D	0	.	17.5256	0.87799	0.0:1.0:0.0:0.0	.	67	Q14807	KIF22_HUMAN	W	67	ENSP00000160827:R67W	ENSP00000160827:R67W	R	+	1	2	KIF22	29715843	0.961000	0.32948	0.354000	0.25760	0.922000	0.55478	2.243000	0.43115	2.738000	0.93877	0.655000	0.94253	CGG	KIF22	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000079616		0.582	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	-	0.00	36	0	C			29808342	+1	tier1	-	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.988	T
KLHL10	317719	genome.wustl.edu	37	17	39998420	39998420	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:39998420G>T	ENST00000293303.4	+	2	693	c.540G>T	c.(538-540)gaG>gaT	p.E180D		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	180					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)				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)				AATTTTTAGAGCTCTCGGTCA	0.428																																																	0													101.0	90.0	93.0					17																	39998420		1881	4118	5999	SO:0001583	missense	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.540G>T	17.37:g.39998420G>T	ENSP00000293303:p.Glu180Asp		Q6NW28|Q96MC0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E180D	ENST00000293303.4	37	c.540	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956228	0.34565	.	.	ENSG00000161594	ENST00000293303	T	0.69685	-0.42	5.73	4.71	0.59529	BTB/Kelch-associated (2);	0.342797	0.34362	N	0.004028	T	0.46190	0.1380	N	0.11364	0.135	0.36258	D	0.854386	B;B	0.09022	0.002;0.002	B;B	0.14578	0.011;0.007	T	0.47923	-0.9079	9	.	.	.	.	14.5281	0.67902	0.0:0.2194:0.7806:0.0	.	174;180	B4DXV2;Q6JEL2	.;KLH10_HUMAN	D	180	ENSP00000293303:E180D	.	E	+	3	2	KLHL10	37251946	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	1.607000	0.36836	2.696000	0.92011	0.655000	0.94253	GAG	KLHL10	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000161594		0.428	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	HGNC	protein_coding	OTTHUMT00000326535.1	-	0.00	53	0	G	NM_152467		39998420	+1	tier1	-	no_errors	ENST00000293303	ensembl	human	known	74_37	missense	40.91	350	243	SNP	1.000	T
KRT1	3848	genome.wustl.edu	37	12	53069172	53069172	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:53069172G>A	ENST00000252244.3	-	9	1798	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	580	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tgctgcttccggagccgtagc	0.726																																																	0													5.0	7.0	6.0					12																	53069172		1737	3615	5352	SO:0001819	synonymous_variant	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1740C>T	12.37:g.53069172G>A			B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S580	ENST00000252244.3	37	c.1740	CCDS8836.1	12																																																																																			KRT1	-	NULL	ENSG00000167768		0.726	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	-	0.00	75	0	G	NM_006121		53069172	-1	tier1	-	no_errors	ENST00000252244	ensembl	human	known	74_37	silent	53.85	36	42	SNP	0.005	A
HSPB6	126393	genome.wustl.edu	37	19	36245292	36245292	+	IGR	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:36245292A>G	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_Splice_Site|LIN37_ENST00000301159.9_Splice_Site|AC002398.11_ENST00000591091.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.?(1)		lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCTCCCCAGGTGGAAGGA	0.597																																																	1	Unknown(1)	lung(1)											55.0	57.0	57.0					19																	36245292		2016	4175	6191	SO:0001628	intergenic_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245292A>G			O14551|Q6NVI3|Q96MG9	Splice_Site	SNP	-	e9-2	ENST00000592984.1	37	c.660-2	CCDS12475.1	19	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452627	0.84209	.	.	ENSG00000188223	ENST00000301159	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4853	0.61361	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIN37	40937132	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	8.226000	0.89785	2.176000	0.68965	0.533000	0.62120	.	LIN37	-	-	ENSG00000267796		0.597	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	HGNC	protein_coding	OTTHUMT00000109498.3		0.00	35	0	A	NM_144617		36245292	+1			no_errors	ENST00000301159	ensembl	human	known	74_37	splice_site	6.67	28	2	SNP	1.000	G
LILRA2	11027	genome.wustl.edu	37	19	55098837	55098837	+	3'UTR	SNP	T	T	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:55098837T>G	ENST00000251377.3	+	0	1609				LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_3'UTR|LILRA2_ENST00000391737.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_3'UTR|CTB-83J4.2_ENST00000596330.1_lincRNA			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2						defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAATGCATCCTTCAGCGTGGT	0.532																																																	0													51.0	47.0	48.0					19																	55098837		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.*24T>G	19.37:g.55098837T>G			O75020	RNA	SNP	-	NULL	ENST00000251377.3	37	NULL	CCDS46179.1	19																																																																																			LILRA2	-	-	ENSG00000239998		0.532	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	-	0.00	63	0	T			55098837	+1	tier1	-	no_errors	ENST00000472992	ensembl	human	known	74_37	rna	90.38	5	47	SNP	0.000	G
LINGO1	84894	genome.wustl.edu	37	15	77907093	77907093	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:77907093G>A	ENST00000355300.6	-	2	1330	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	LINGO1_ENST00000561030.1_Missense_Mutation_p.R380W	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	386	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGTTGAGCCGCCAGCGGCGC	0.622																																																	0													22.0	26.0	25.0					15																	77907093		2052	4188	6240	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1156C>T	15.37:g.77907093G>A	ENSP00000347451:p.Arg386Trp		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R386W	ENST00000355300.6	37	c.1156	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573503	0.45902	.	.	ENSG00000169783	ENST00000355300	T	0.55930	0.49	4.93	4.0	0.46444	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	P	0.52554	0.702	T	0.66081	-0.6012	10	0.49607	T	0.09	.	11.8745	0.52539	0.0:0.0:0.5114:0.4886	.	386	Q96FE5	LIGO1_HUMAN	W	386	ENSP00000347451:R386W	ENSP00000347451:R386W	R	-	1	2	LINGO1	75694148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.743000	0.38258	1.033000	0.39918	0.462000	0.41574	CGG	LINGO1	-	NULL	ENSG00000169783		0.622	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	-	0.00	69	0	G	NM_032808		77907093	-1	tier1	-	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	30.48	73	32	SNP	1.000	A
KRT73	319101	genome.wustl.edu	37	12	53003850	53003850	+	Intron	SNP	T	T	C	rs543804009|rs138238856|rs200370647		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:53003850T>C	ENST00000305748.3	-	7	1366				RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		Ttttgtctgtttgtttgtttg	0.423																																																	0																																										SO:0001627	intron_variant	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1331+548A>G	12.37:g.53003850T>C			Q32MB2	RNA	SNP	-	NULL	ENST00000305748.3	37	NULL	CCDS8834.1	12																																																																																			RP11-641A6.2	-	-	ENSG00000257495		0.423	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100127967	Clone_based_vega_gene	protein_coding	OTTHUMT00000405700.1	-	0.00	46	0	T	NM_175068		53003850	+1	tier1	rs200370647	no_errors	ENST00000552364	ensembl	human	known	74_37	rna	20.63	50	13	SNP	0.003	C
SCIMP	388325	genome.wustl.edu	37	17	5126838	5126839	+	Intron	INS	-	-	T	rs371714640		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:5126838_5126839insT	ENST00000574081.1	-	2	126				RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000571800.1_Intron|SCIMP_ENST00000574297.1_Intron|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Intron	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein						positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											ACTGTGGGttgttttttttttc	0.495																																																	0																																										SO:0001627	intron_variant	0			AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.22-87->A	17.37:g.5126848_5126848dupT			A6XGL4|B4DLK1|Q96MD0	RNA	INS	-	NULL	ENST00000574081.1	37	NULL	CCDS42242.1	17																																																																																			RP11-333E1.1	-	-	ENSG00000261879		0.495	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100130950	Clone_based_vega_gene	protein_coding	OTTHUMT00000256425.2		0.00	51	0	-	NM_207103		5126839	+1	tier1		no_errors	ENST00000575601	ensembl	human	known	74_37	rna	16.00	42	8	INS	0.000:0.000	T
LPHN3	23284	genome.wustl.edu	37	4	62599270	62599270	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:62599270C>A	ENST00000514591.1	+	7	1522	c.1193C>A	c.(1192-1194)tCa>tAa	p.S398*	LPHN3_ENST00000514157.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.S398*|LPHN3_ENST00000512091.2_Nonsense_Mutation_p.S398*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.S466*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.S466*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	398					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATAGTAGATCAGGTAAGTTC	0.358																																																	0													33.0	31.0	32.0					4																	62599270		1829	4088	5917	SO:0001587	stop_gained	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1193C>A	4.37:g.62599270C>A	ENSP00000422533:p.Ser398*		E9PE04|O94867|Q9NWK5	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.S466*	ENST00000514591.1	37	c.1397	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.798658	0.96960	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.	.	.	5.31	5.31	0.75309	.	0.370541	0.26931	N	0.021780	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	17.9471	0.89042	0.0:1.0:0.0:0.0	.	.	.	.	X	398;398;466;466;398;398;398;398;398;466;466;466;398;398;398;466;466;398	.	ENSP00000280009:S398X	S	+	2	0	LPHN3	62281865	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.545000	0.60698	2.471000	0.83476	0.557000	0.71058	TCA	LPHN3	-	NULL	ENSG00000150471		0.358	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0.00	22	0	C			62599270	+1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	nonsense	44.44	10	8	SNP	1.000	A
LRCH1	23143	genome.wustl.edu	37	13	47275284	47275285	+	Frame_Shift_Ins	INS	-	-	AT	rs201563944		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:47275284_47275285insAT	ENST00000389798.3	+	11	1539_1540	c.1342_1343insAT	c.(1342-1344)gatfs	p.D448fs	LRCH1_ENST00000311191.6_Frame_Shift_Ins_p.D448fs|LRCH1_ENST00000389797.3_Frame_Shift_Ins_p.D448fs	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	448										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCAGGACATGGATATAGCAATG	0.376																																																	0																																										SO:0001589	frameshift_variant	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1345_1346dupAT	13.37:g.47275287_47275288dupAT	ENSP00000374448:p.Asp448fs		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.A450fs	ENST00000389798.3	37	c.1342_1343	CCDS31972.1	13																																																																																			LRCH1	-	NULL	ENSG00000136141		0.376	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2		0.00	27	0	-	NM_015116		47275285	+1	tier1		no_errors	ENST00000389798	ensembl	human	known	74_37	frame_shift_ins	33.33	28	14	INS	0.992:0.999	AT
LRFN5	145581	genome.wustl.edu	37	14	42356204	42356204	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:42356204C>A	ENST00000298119.4	+	3	1565	c.376C>A	c.(376-378)Cat>Aat	p.H126N	LRFN5_ENST00000554120.1_Missense_Mutation_p.H126N|LRFN5_ENST00000554171.1_Missense_Mutation_p.H126N	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	126						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)		TTCCAATCTTCATCATTTGAT	0.378										HNSCC(30;0.082)																																							0													84.0	81.0	82.0					14																	42356204		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.376C>A	14.37:g.42356204C>A	ENSP00000298119:p.His126Asn		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.H126N	ENST00000298119.4	37	c.376	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212338	0.39102	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51574	0.7;0.7;0.7	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000017	T	0.44726	0.1307	N	0.11106	0.095	0.52501	D	0.999956	B;P	0.45957	0.431;0.869	B;P	0.52710	0.352;0.707	T	0.52472	-0.8571	10	0.66056	D	0.02	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	126;126	G3V364;Q96NI6	.;LRFN5_HUMAN	N	126	ENSP00000298119:H126N;ENSP00000451897:H126N;ENSP00000451067:H126N	ENSP00000298119:H126N	H	+	1	0	LRFN5	41425954	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.920000	0.70017	2.595000	0.87683	0.650000	0.86243	CAT	LRFN5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000165379		0.378	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0.00	42	0	C	NM_152447		42356204	+1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	A
LRRC38	126755	genome.wustl.edu	37	1	13839644	13839644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:13839644C>A	ENST00000376085.3	-	1	899	c.445G>T	c.(445-447)Gag>Tag	p.E149*	RP4-597A16.2_ENST00000563570.1_RNA	NM_001010847.1	NP_001010847.1	Q5VT99	LRC38_HUMAN	leucine rich repeat containing 38	149					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TCCAGGGTCTCGAAGGCGTCC	0.701																																																	0																																										SO:0001587	stop_gained	0			BC016048	CCDS53269.1	1p36.21	2008-02-05			ENSG00000162494	ENSG00000162494			27005	protein-coding gene	gene with protein product		615212				12477932	Standard	NM_001010847		Approved		uc001avb.3	Q5VT99	OTTHUMG00000007918	ENST00000376085.3:c.445G>T	1.37:g.13839644C>A	ENSP00000365253:p.Glu149*		Q96B32	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E149*	ENST00000376085.3	37	c.445	CCDS53269.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.289649	0.97444	.	.	ENSG00000162494	ENST00000376085	.	.	.	4.33	3.4	0.38934	.	0.411149	0.26612	N	0.023405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	12.7901	0.57528	0.0:0.8334:0.1666:0.0	.	.	.	.	X	149	.	ENSP00000365253:E149X	E	-	1	0	LRRC38	13712231	0.999000	0.42202	0.996000	0.52242	0.003000	0.03518	1.288000	0.33296	0.774000	0.33427	-0.556000	0.04195	GAG	LRRC38	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000162494		0.701	LRRC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC38	HGNC	protein_coding	OTTHUMT00000021793.1	-	0.00	92	0	C			13839644	-1	tier1	-	no_errors	ENST00000376085	ensembl	human	known	74_37	nonsense	45.71	38	32	SNP	1.000	A
LRRC4C	57689	genome.wustl.edu	37	11	40136997	40136997	+	Silent	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:40136997C>A	ENST00000278198.2	-	2	2809	c.846G>T	c.(844-846)ctG>ctT	p.L282L	LRRC4C_ENST00000527150.1_Silent_p.L282L|LRRC4C_ENST00000528697.1_Silent_p.L282L|LRRC4C_ENST00000530763.1_Silent_p.L282L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	282					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTCATGAGGCAGTAATGTTA	0.453																																																	0													215.0	168.0	184.0					11																	40136997		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.846G>T	11.37:g.40136997C>A			A8K0T1|Q7L0N3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L282	ENST00000278198.2	37	c.846	CCDS31464.1	11																																																																																			LRRC4C	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148948		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0.00	28	0	C	NM_020929		40136997	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	silent	88.89	3	24	SNP	1.000	A
LY75	4065	genome.wustl.edu	37	2	160735803	160735803	+	Silent	SNP	G	G	A	rs141523249		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:160735803G>A	ENST00000263636.4	-	9	1509	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	LY75-CD302_ENST00000505052.1_Silent_p.D494D|LY75_ENST00000554112.1_Silent_p.D494D|LY75-CD302_ENST00000504764.1_Silent_p.D494D|LY75_ENST00000553424.1_Silent_p.D494D	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	494	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAGAACTTGCGTCATTCAGTT	0.373																																																	0								G	,,	0,4406		0,0,2203	248.0	228.0	235.0		1482,1482,1482	-0.6	0.1	2	dbSNP_134	235	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LY75,LY75-CD302	NM_001198759.1,NM_001198760.1,NM_002349.3	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	494/1874,494/1818,494/1723	160735803	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1482C>T	2.37:g.160735803G>A			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.D494	ENST00000263636.4	37	c.1482	CCDS2211.1	2																																																																																			LY75	-	NULL	ENSG00000054219		0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0.00	42	0	G			160735803	-1	tier1	rs141523249	no_errors	ENST00000554112	ensembl	human	known	74_37	silent	24.53	40	13	SNP	0.024	A
LY86	9450	genome.wustl.edu	37	6	6589069	6589069	+	Silent	SNP	C	C	T	rs144373281		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:6589069C>T	ENST00000379953.2	+	2	454	c.102C>T	c.(100-102)agC>agT	p.S34S	LY86_ENST00000230568.4_Silent_p.S34S|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	34					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGGTCTGTAGCGACAGCGGCT	0.567																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	89.0	84.0	86.0		102	-1.3	0.0	6	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	LY86	NM_004271.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		34/163	6589069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.102C>T	6.37:g.6589069C>T			Q9UQC4	Silent	SNP	pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom	p.S34	ENST00000379953.2	37	c.102	CCDS4498.1	6																																																																																			LY86	-	NULL	ENSG00000112799		0.567	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY86	HGNC	protein_coding	OTTHUMT00000039762.2	-	0.00	61	0	C			6589069	+1	tier1	rs144373281	no_errors	ENST00000230568	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.001	T
MAFF	23764	genome.wustl.edu	37	22	38610597	38610597	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:38610597C>T	ENST00000338483.2	+	3	569	c.207C>T	c.(205-207)cgC>cgT	p.R69R	MAFF_ENST00000538320.1_Silent_p.R69R|MAFF_ENST00000426621.2_Silent_p.R69R|MAFF_ENST00000538999.1_Silent_p.R40R|MAFF_ENST00000407965.1_Silent_p.R69R			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	69	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|skin(1)	3	Melanoma(58;0.045)					CCAGCTGCCGCGTGAAGCGCG	0.682																																																	0													10.0	12.0	11.0					22																	38610597		2188	4276	6464	SO:0001819	synonymous_variant	0			AJ010857	CCDS13968.1, CCDS54528.1	22q13.1	2013-07-09	2013-07-09		ENSG00000185022	ENSG00000185022			6780	protein-coding gene	gene with protein product		604877				10591208	Standard	NM_012323		Approved	hMafF	uc011anr.2	Q9ULX9	OTTHUMG00000151163	ENST00000338483.2:c.207C>T	22.37:g.38610597C>T			B4DV49|Q9Y525	Silent	SNP	pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R69	ENST00000338483.2	37	c.207	CCDS13968.1	22																																																																																			MAFF	-	pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP	ENSG00000185022		0.682	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFF	HGNC	protein_coding	OTTHUMT00000321624.1	-	0.00	41	0	C	NM_001161572		38610597	+1	tier1	-	no_errors	ENST00000338483	ensembl	human	known	74_37	silent	19.61	41	10	SNP	0.999	T
MALAT1	378938	genome.wustl.edu	37	11	65268480	65268480	+	lincRNA	DEL	T	T	-	rs72004824|rs117197658	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:65268480delT	ENST00000534336.1	+	0	3248				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGTTTGTGGGTTTTTTTTTTT	0.368																																																	0													83.0	101.0	95.0					11																	65268480		874	1988	2862			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268480delT				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.368	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1		0.00	51	0	T	NR_002819		65268480	+1	tier1		no_errors	ENST00000534336	ensembl	human	known	74_37	rna	15.00	34	6	DEL	0.000	-
MBD2	8932	genome.wustl.edu	37	18	51690975	51690975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr18:51690975delC	ENST00000256429.3	-	5	1255	c.1027delG	c.(1027-1029)gctfs	p.A343fs		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	343					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TTTTCCACAGCAGCGGAGACT	0.478																																																	0													125.0	112.0	116.0					18																	51690975		2203	4300	6503	SO:0001589	frameshift_variant	0			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1027delG	18.37:g.51690975delC	ENSP00000256429:p.Ala343fs		O95242|Q9UIS8	Frame_Shift_Del	DEL	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.A343fs	ENST00000256429.3	37	c.1027	CCDS11953.1	18																																																																																			MBD2	-	NULL	ENSG00000134046		0.478	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	HGNC	protein_coding	OTTHUMT00000256003.2		0.00	53	0	C	NM_003927		51690975	-1	tier1		no_errors	ENST00000256429	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-
MESDC2	23184	genome.wustl.edu	37	15	81271765	81271765	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:81271765G>T	ENST00000261758.4	-	3	586	c.500C>A	c.(499-501)gCc>gAc	p.A167D	MESDC2_ENST00000560244.1_5'Flank	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	167	Escort domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						GATCTCCCAGGCGTAGCTCCC	0.527																																																	0													75.0	70.0	72.0					15																	81271765		2203	4300	6503	SO:0001583	missense	0			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.500C>A	15.37:g.81271765G>T	ENSP00000261758:p.Ala167Asp		B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	pfam_Mesoderm_development_cand-2	p.A167D	ENST00000261758.4	37	c.500	CCDS32308.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.631026	0.96682	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.83848	0.5343	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84723	0.0741	9	0.87932	D	0	-14.4057	20.3342	0.98733	0.0:0.0:1.0:0.0	.	167	Q14696	MESD_HUMAN	D	167	.	ENSP00000261758:A167D	A	-	2	0	MESDC2	79058820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.430000	0.97488	2.822000	0.97130	0.650000	0.86243	GCC	MESDC2	-	pfam_Mesoderm_development_cand-2	ENSG00000117899		0.527	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESDC2	HGNC	protein_coding	OTTHUMT00000417673.2		0.00	33	0	G	NM_015154		81271765	-1			no_errors	ENST00000261758	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
METTL17	64745	genome.wustl.edu	37	14	21464788	21464788	+	Missense_Mutation	SNP	C	C	T	rs148330410		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:21464788C>T	ENST00000339374.6	+	13	1416	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_5'Flank|METTL17_ENST00000382985.4_Missense_Mutation_p.R395W|METTL17_ENST00000556670.2_Missense_Mutation_p.R395W|SLC39A2_ENST00000298681.4_5'Flank	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	395					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TGTCCTTAAACGGCCTCGCCA	0.577																																																	0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	69.0	59.0	62.0		1183,1183	2.5	0.9	14	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	METTL17	NM_001029991.1,NM_022734.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	395/479,395/457	21464788	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1183C>T	14.37:g.21464788C>T	ENSP00000343041:p.Arg395Trp		Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.R395W	ENST00000339374.6	37	c.1183	CCDS9562.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.21|13.21	2.168927|2.168927	0.38315|0.38315	0.0|0.0	1.16E-4|1.16E-4	ENSG00000165792|ENSG00000165792	ENST00000339374;ENST00000382985|ENST00000556733	T;T|.	0.34859|.	1.34;1.34|.	5.34|5.34	2.49|2.49	0.30216|0.30216	.|.	0.058459|.	0.64402|.	N|.	0.000005|.	T|T	0.67618|0.67618	0.2912|0.2912	M|M	0.88377|0.88377	2.95|2.95	0.47547|0.47547	D|D	0.999458|0.999458	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.64123|0.64123	-0.6481|-0.6481	10|5	0.87932|.	D|.	0|.	.|.	2.3687|2.3687	0.04325|0.04325	0.1551:0.5268:0.1504:0.1676|0.1551:0.5268:0.1504:0.1676	.|.	395;395;395|.	Q9H7H0-3;Q9H7H0;Q9H7H0-2|.	.;MET17_HUMAN;.|.	W|M	395|70	ENSP00000343041:R395W;ENSP00000372445:R395W|.	ENSP00000343041:R395W|.	R|T	+|+	1|2	2|0	METTL17|METTL17	20534628|20534628	0.875000|0.875000	0.30112|0.30112	0.912000|0.912000	0.35992|0.35992	0.041000|0.041000	0.13682|0.13682	1.116000|1.116000	0.31221|0.31221	0.234000|0.234000	0.21139|0.21139	-0.140000|-0.140000	0.14226|0.14226	CGG|ACG	METTL17	-	pfam_Ribosomal_Rsm22_bac-type	ENSG00000165792		0.577	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	HGNC	protein_coding	OTTHUMT00000073804.4	-	0.00	23	0	C	NM_022734		21464788	+1	tier1	rs148330410	no_errors	ENST00000382985	ensembl	human	known	74_37	missense	71.43	10	25	SNP	0.730	T
MICAL3	57553	genome.wustl.edu	37	22	18301005	18301005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:18301005delC	ENST00000441493.2	-	26	4774	c.4422delG	c.(4420-4422)aggfs	p.R1474fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1474	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCCTGAGCTTCCTCCGCAAGG	0.751																																																	0													6.0	5.0	5.0					22																	18301005		1625	3694	5319	SO:0001589	frameshift_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4422delG	22.37:g.18301005delC	ENSP00000416015:p.Arg1474fs		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K1475fs	ENST00000441493.2	37	c.4422	CCDS46659.1	22																																																																																			MICAL3	-	NULL	ENSG00000243156		0.751	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1		0.00	16	0	C			18301005	-1	tier1		no_errors	ENST00000441493	ensembl	human	known	74_37	frame_shift_del	53.33	7	8	DEL	0.983	-
MIER2	54531	genome.wustl.edu	37	19	311876	311876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:311876delC	ENST00000264819.4	-	10	963	c.953delG	c.(952-954)ggafs	p.G318fs		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	318	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAGTTCTTTCCATGCACACG	0.617																																																	0													119.0	86.0	97.0					19																	311876		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.953delG	19.37:g.311876delC	ENSP00000264819:p.Gly318fs		Q9ULM7	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.G318fs	ENST00000264819.4	37	c.953	CCDS32855.1	19																																																																																			MIER2	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000105556		0.617	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1		0.00	40	0	C	XM_041843		311876	-1	tier1		no_errors	ENST00000264819	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-
LARP7	51574	genome.wustl.edu	37	4	113569548	113569548	+	Intron	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:113569548T>C	ENST00000344442.5	+	8	1420				MIR302A_ENST00000385192.1_RNA|LARP7_ENST00000509061.1_Intron|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Intron|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GCACTTACTTTTGTTTCACAC	0.393																																																	0													132.0	123.0	125.0					4																	113569548		1568	3582	5150	SO:0001627	intron_variant	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1142+558T>C	4.37:g.113569548T>C			B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	RNA	SNP	-	NULL	ENST00000344442.5	37	NULL	CCDS3701.2	4																																																																																			MIR302C	-	-	ENSG00000199102		0.393	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR302C	HGNC	protein_coding	OTTHUMT00000256417.2	-	0.00	46	0	T	NM_016648		113569548	-1	tier1	-	no_errors	ENST00000362232	ensembl	human	known	74_37	rna	47.37	20	18	SNP	0.979	C
ATP2B2	491	genome.wustl.edu	37	3	10371963	10371964	+	Intron	DEL	AA	AA	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:10371963_10371964delAA	ENST00000352432.4	-	22	3490				MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000383800.4_Intron|ATP2B2_ENST00000343816.4_Intron|ATP2B2_ENST00000360273.2_Intron|ATP2B2_ENST00000467702.2_Intron			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2						auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ttggaggcagaaagacccaact	0.564																																					Ovarian(125;1619 1709 15675 19819 38835)												0																																										SO:0001627	intron_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3421-1154TT>-	3.37:g.10371963_10371964delAA			O00766|Q12994|Q16818	RNA	DEL	-	NULL	ENST00000352432.4	37	NULL	CCDS33701.1	3																																																																																			MIR378B	-	-	ENSG00000264534		0.564	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	MIR378B	HGNC	protein_coding	OTTHUMT00000250576.2		0.00	35	0	AA	NM_001683		10371964	+1	tier1		no_errors	ENST00000578876	ensembl	human	known	74_37	rna	28.21	28	11	DEL	0.000:0.000	-
STRBP	55342	genome.wustl.edu	37	9	125874872	125874872	+	Intron	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:125874872C>A	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GAAAGCGCTACAAACACCCCA	0.587																																																	0																																										SO:0001627	intron_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-2840G>T	9.37:g.125874872C>A			Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-	ENSG00000236901		0.587	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	-	0.00	59	0	C			125874872	-1	tier1	-	no_errors	ENST00000449175	ensembl	human	known	74_37	rna	27.63	55	21	SNP	0.002	A
MKI67	4288	genome.wustl.edu	37	10	129906796	129906796	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:129906796G>A	ENST00000368654.3	-	13	3683	c.3308C>T	c.(3307-3309)gCt>gTt	p.A1103V	MKI67_ENST00000368653.3_Missense_Mutation_p.A743V|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1103	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGAAGCCAGCCAGGTCTTC	0.507																																																	0													189.0	186.0	187.0					10																	129906796		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3308C>T	10.37:g.129906796G>A	ENSP00000357643:p.Ala1103Val		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A1103V	ENST00000368654.3	37	c.3308	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	7.419	0.636300	0.14386	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02525	4.26;4.26	4.08	0.196	0.15159	.	.	.	.	.	T	0.08179	0.0204	M	0.66939	2.045	0.09310	N	1	B;D;D	0.65815	0.013;0.995;0.989	B;P;P	0.62298	0.014;0.894;0.9	T	0.27157	-1.0082	9	0.33940	T	0.23	.	4.7457	0.13036	0.2617:0.1644:0.5739:0.0	.	1102;743;1103	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	1103;743;1102	ENSP00000357643:A1103V;ENSP00000357642:A743V	ENSP00000357642:A743V	A	-	2	0	MKI67	129796786	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.342000	0.19926	0.001000	0.14605	0.561000	0.74099	GCT	MKI67	-	pfam_K167R	ENSG00000148773		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0.00	84	0	G	NM_002417		129906796	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A
MMP23B	8510	genome.wustl.edu	37	1	1569848	1569849	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:1569848_1569849insCT	ENST00000356026.5	+	8	1144_1145	c.1020_1021insCT	c.(1021-1023)ctgfs	p.L341fs	MMP23B_ENST00000378675.3_Frame_Shift_Ins_p.P363fs			O75900	MMP23_HUMAN	matrix metallopeptidase 23B	341	Ig-like C2-type.				proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	ACCAGGAGCCCCTGGAGTTCTC	0.728																																																	0																																										SO:0001589	frameshift_variant	0				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713	ENST00000356026.5:c.1021_1022dupCT	1.37:g.1569849_1569850dupCT	ENSP00000348308:p.Leu341fs		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Frame_Shift_Ins	INS	pfam_Pept_M10_metallopeptidase,pfam_ShK_toxin,smart_Peptidase_Metallo,smart_ShK_toxin,smart_Ig_sub,pfscan_Ig-like_dom,prints_Pept_M10A	p.E341fs	ENST00000356026.5	37	c.1020_1021	CCDS30559.1	1																																																																																			MMP23B	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000189409		0.728	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP23B	HGNC	protein_coding	OTTHUMT00000158492.2		0.00	9	0	0	NM_006983		1569849	+1			no_errors	ENST00000356026	ensembl	human	known	74_37	frame_shift_ins	50.00	4	4	INS	0.997:1.000	CT
MOCS1	4337	genome.wustl.edu	37	6	39880077	39880077	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:39880077G>C	ENST00000340692.5	-	8	915	c.912C>G	c.(910-912)atC>atG	p.I304M	MOCS1_ENST00000432280.2_Missense_Mutation_p.I275M|MOCS1_ENST00000425303.2_Missense_Mutation_p.I304M|MOCS1_ENST00000308559.7_Missense_Mutation_p.I304M|MOCS1_ENST00000373188.2_Missense_Mutation_p.I304M|MOCS1_ENST00000373175.4_Missense_Mutation_p.I275M|MOCS1_ENST00000373186.4_Missense_Mutation_p.I304M|MOCS1_ENST00000373195.3_Missense_Mutation_p.I217M			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	304	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACATGGATGTGATGAAGCTGA	0.577																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													138.0	129.0	132.0					6																	39880077		2203	4300	6503	SO:0001583	missense	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.912C>G	6.37:g.39880077G>C	ENSP00000344794:p.Ile304Met		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.I304M	ENST00000340692.5	37	c.912		6	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443178	0.63067	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000341481;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.16	4.28	0.50868	Molybdenum cofactor synthesis C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	H	0.99980	5.19	0.53688	D	0.999972	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.995;0.999;0.998;0.995	D	0.98288	1.0512	9	.	.	.	-26.7806	13.7137	0.62682	0.0772:0.0:0.9228:0.0	.	304;304;304;304;304	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	M	304;304;275;304;217;56;304;304;275	ENSP00000362282:I304M;ENSP00000309843:I304M;ENSP00000362270:I275M;ENSP00000362284:I304M;ENSP00000362291:I217M;ENSP00000344794:I304M;ENSP00000416478:I304M;ENSP00000410809:I275M	.	I	-	3	3	MOCS1	39988055	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.411000	0.44600	2.407000	0.81776	0.491000	0.48974	ATC	MOCS1	-	pfam_Mob_synth_C,tigrfam_MoaA	ENSG00000124615		0.577	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	-	0.00	65	0	G	NM_005943		39880077	-1	tier1	-	no_errors	ENST00000340692	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	C
MOSPD2	158747	genome.wustl.edu	37	X	14891844	14891844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:14891844G>T	ENST00000380492.3	+	2	131	c.43G>T	c.(43-45)Gag>Tag	p.E15*	MOSPD2_ENST00000497603.2_Nonsense_Mutation_p.E15*|MOSPD2_ENST00000482354.1_Nonsense_Mutation_p.E15*|FANCB_ENST00000398334.1_5'Flank|FANCB_ENST00000324138.3_5'Flank	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	15						integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GCTCATCTCTGAGACCCGGAG	0.522																																																	0													192.0	179.0	183.0					X																	14891844		2203	4300	6503	SO:0001587	stop_gained	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.43G>T	X.37:g.14891844G>T	ENSP00000369860:p.Glu15*		Q8N3H2|Q8NA83	Nonsense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.E15*	ENST00000380492.3	37	c.43	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.391092	0.95988	.	.	ENSG00000130150	ENST00000380492	.	.	.	4.93	4.93	0.64822	.	0.056723	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.0563	0.64772	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000369860:E15X	E	+	1	0	MOSPD2	14801765	1.000000	0.71417	0.984000	0.44739	0.636000	0.38137	4.787000	0.62432	2.427000	0.82271	0.600000	0.82982	GAG	MOSPD2	-	superfamily_CRAL/TRIO_N_dom	ENSG00000130150		0.522	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	-	0.00	33	0	G	NM_152581		14891844	+1	tier1	-	no_errors	ENST00000380492	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	0.998	T
MPG	4350	genome.wustl.edu	37	16	135445	135445	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:135445G>A	ENST00000219431.4	+	5	797	c.566G>A	c.(565-567)gGt>gAt	p.G189D	NPRL3_ENST00000405960.3_5'Flank|MPG_ENST00000397817.1_Missense_Mutation_p.G172D	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	189					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCCCTGGAAGGTCTGGAGACC	0.657								Base excision repair (BER), DNA glycosylases																																									0													76.0	79.0	78.0					16																	135445		2203	4300	6503	SO:0001583	missense	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.566G>A	16.37:g.135445G>A	ENSP00000219431:p.Gly189Asp		G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	p.G189D	ENST00000219431.4	37	c.566	CCDS32346.1	16	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357271	0.61293	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.09	4.13	0.48395	Formyl transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66622	-0.5877	10	0.72032	D	0.01	-14.8777	12.5604	0.56277	0.0807:0.0:0.9193:0.0	.	184;189	Q5J9I4;P29372	.;3MG_HUMAN	D	172;172;184;189	ENSP00000388097:G172D;ENSP00000380918:G172D;ENSP00000348809:G184D;ENSP00000219431:G189D	ENSP00000219431:G189D	G	+	2	0	MPG	75445	1.000000	0.71417	0.855000	0.33649	0.440000	0.31957	9.711000	0.98735	1.142000	0.42291	0.462000	0.41574	GGT	MPG	-	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	ENSG00000103152		0.657	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	HGNC	protein_coding	OTTHUMT00000109121.4	-	0.00	66	0	G			135445	+1	tier1	-	no_errors	ENST00000219431	ensembl	human	known	74_37	missense	53.85	24	28	SNP	1.000	A
MRPS5	64969	genome.wustl.edu	37	2	95780886	95780886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:95780886G>A	ENST00000272418.2	-	3	410	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MRPS5_ENST00000475040.1_5'UTR	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	68					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATTGTGTCTGCAGTGCACGG	0.463											OREG0014795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													166.0	149.0	155.0					2																	95780886		2203	4300	6503	SO:0001587	stop_gained	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.202C>T	2.37:g.95780886G>A	ENSP00000272418:p.Gln68*	1315	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Nonsense_Mutation	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.Q68*	ENST00000272418.2	37	c.202	CCDS2010.1	2	.	.	.	.	.	.	.	.	.	.	G	7.121	0.578010	0.13686	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	5.08	0.68730	.	0.065803	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.1657	14.1533	0.65401	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	ENSP00000272418:Q68X	Q	-	1	0	MRPS5	95144613	1.000000	0.71417	0.947000	0.38551	0.027000	0.11550	4.987000	0.63857	2.786000	0.95864	0.563000	0.77884	CAG	MRPS5	-	NULL	ENSG00000144029		0.463	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	-	0.00	42	0	G	NM_031902		95780886	-1	tier1	-	no_errors	ENST00000272418	ensembl	human	known	74_37	nonsense	6.06	61	4	SNP	0.971	A
MSH3	4437	genome.wustl.edu	37	5	79968645	79968645	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:79968645C>T	ENST00000265081.6	+	6	1075	c.995C>T	c.(994-996)gCc>gTc	p.A332V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	332					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AAATTGACTGCCCTTTATACA	0.383								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													112.0	114.0	113.0					5																	79968645		2203	4300	6503	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.995C>T	5.37:g.79968645C>T	ENSP00000265081:p.Ala332Val		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.A332V	ENST00000265081.6	37	c.995	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681698	0.88542	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.89343	-2.5	5.43	5.43	0.79202	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.059314	0.64402	D	0.000004	D	0.94231	0.8148	M	0.74647	2.275	0.47341	D	0.999397	D	0.89917	1.0	D	0.79784	0.993	D	0.93720	0.7032	9	.	.	.	-20.2349	18.856	0.92252	0.0:1.0:0.0:0.0	.	332	P20585	MSH3_HUMAN	V	332;323	ENSP00000265081:A332V	.	A	+	2	0	MSH3	80004401	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.355000	0.59424	2.548000	0.85928	0.591000	0.81541	GCC	MSH3	-	pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N	ENSG00000113318		0.383	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	-	0.00	70	0	C	NM_002439		79968645	+1	tier1	-	no_errors	ENST00000265081	ensembl	human	known	74_37	missense	89.36	5	42	SNP	1.000	T
MSTN	2660	genome.wustl.edu	37	2	190927070	190927070	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:190927070G>A	ENST00000260950.4	-	1	385	c.253C>T	c.(253-255)Cct>Tct	p.P85S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	85					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CGGAGTGGAGGAGCTTTGGGT	0.423																																																	0													143.0	131.0	135.0					2																	190927070		2203	4300	6503	SO:0001583	missense	0			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.253C>T	2.37:g.190927070G>A	ENSP00000260950:p.Pro85Ser		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.P85S	ENST00000260950.4	37	c.253	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610525	0.87258	.	.	ENSG00000138379	ENST00000260950	T	0.67171	-0.25	5.34	5.34	0.76211	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82976	0.5154	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84472	0.0600	10	0.87932	D	0	-10.212	19.238	0.93869	0.0:0.0:1.0:0.0	.	85	O14793	GDF8_HUMAN	S	85	ENSP00000260950:P85S	ENSP00000260950:P85S	P	-	1	0	MSTN	190635315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.785000	0.95823	0.650000	0.86243	CCT	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.423	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2	-	0.00	64	0	G	NM_005259		190927070	-1	tier1	-	no_errors	ENST00000260950	ensembl	human	known	74_37	missense	47.62	33	30	SNP	1.000	A
MT-ND5	4540	genome.wustl.edu	37	M	13957	13957	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrM:13957G>A	ENST00000361567.2	+	1	1621	c.1621G>A	c.(1621-1623)Ggc>Agc	p.G541S	MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	541					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCCCCTATCTAGGCCTTCTTA	0.423																																																	0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1621G>A	M.37:g.13957G>A	ENSP00000354813:p.Gly541Ser		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.G541S	ENST00000361567.2	37	c.1621		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C	ENSG00000198786		0.423	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		-	0.00	14	0	G	YP_003024036		13957	+1	tier1	-	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	97.37	0	37	SNP	NULL	A
MTMR3	8897	genome.wustl.edu	37	22	30414045	30414045	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:30414045G>T	ENST00000401950.2	+	16	2146	c.1804G>T	c.(1804-1806)Gat>Tat	p.D602Y	MTMR3_ENST00000406629.1_Missense_Mutation_p.D602Y|MTMR3_ENST00000351488.3_Missense_Mutation_p.D602Y|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.D602Y|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.D466Y	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	602					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CAGCCCTGATGATCCCCCCCT	0.632																																																	0													78.0	61.0	66.0					22																	30414045		2203	4300	6503	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1804G>T	22.37:g.30414045G>T	ENSP00000384651:p.Asp602Tyr		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.D602Y	ENST00000401950.2	37	c.1804	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467926	0.84533	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94232	-3.16;-3.15;-3.38;-3.2;-3.15	5.93	5.93	0.95920	.	0.444833	0.25106	N	0.033098	D	0.94785	0.8316	L	0.51422	1.61	0.80722	D	1	P;P;P	0.50617	0.937;0.897;0.937	P;P;P	0.55222	0.771;0.492;0.771	D	0.94739	0.7917	10	0.72032	D	0.01	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	602;602;602	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	Y	602;602;466;602;602	ENSP00000384651:D602Y;ENSP00000331649:D602Y;ENSP00000318070:D466Y;ENSP00000307271:D602Y;ENSP00000384077:D602Y	ENSP00000318070:D466Y	D	+	1	0	MTMR3	28744045	1.000000	0.71417	0.991000	0.47740	0.750000	0.42670	9.214000	0.95140	2.818000	0.97014	0.591000	0.81541	GAT	MTMR3	-	NULL	ENSG00000100330		0.632	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0.00	39	0	G	NM_021090		30414045	+1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	missense	32.56	58	28	SNP	1.000	T
MTR	4548	genome.wustl.edu	37	1	237025632	237025632	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:237025632G>A	ENST00000366577.5	+	21	2687	c.2293G>A	c.(2293-2295)Gta>Ata	p.V765I	MTR_ENST00000535889.1_Missense_Mutation_p.V714I	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	765					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TAACGGCACAGTAGAAGAAGA	0.488																																																	0													117.0	119.0	118.0					1																	237025632		2203	4300	6503	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2293G>A	1.37:g.237025632G>A	ENSP00000355536:p.Val765Ile		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.V765I	ENST00000366577.5	37	c.2293	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850862	0.17034	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;D	0.83075	-0.31;-0.3;-1.68	5.23	-1.5	0.08691	.	0.984500	0.08309	N	0.965693	T	0.74935	0.3782	M	0.62723	1.935	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56691	-0.7937	10	0.33141	T	0.24	-1.2282	1.7186	0.02907	0.3861:0.0977:0.3175:0.1987	.	765;714;765	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	I	619;765;714;319	ENSP00000355536:V765I;ENSP00000441845:V714I;ENSP00000355535:V319I	ENSP00000355535:V319I	V	+	1	0	MTR	235092255	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.135000	0.10420	-0.458000	0.07023	-0.961000	0.02630	GTA	MTR	-	pirsf_MetH,tigrfam_MetH	ENSG00000116984		0.488	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0.00	84	0	G	NM_000254		237025632	+1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	A
MTR	4548	genome.wustl.edu	37	1	237026804	237026804	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:237026804C>T	ENST00000366577.5	+	22	2749	c.2355C>T	c.(2353-2355)caC>caT	p.H785H	MTR_ENST00000535889.1_Silent_p.H734H	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	785	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCGACGTGCACGACATAGGCA	0.488																																																	0													128.0	97.0	108.0					1																	237026804		2203	4300	6503	SO:0001819	synonymous_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2355C>T	1.37:g.237026804C>T			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.H785	ENST00000366577.5	37	c.2355	CCDS1614.1	1																																																																																			MTR	-	pfam_Cobalamin-bd,superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH	ENSG00000116984		0.488	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0.00	85	0	C	NM_000254		237026804	+1			no_errors	ENST00000366577	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.111	T
MUC6	4588	genome.wustl.edu	37	11	1030955	1030955	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:1030955C>G	ENST00000421673.2	-	6	726	c.676G>C	c.(676-678)Gcc>Ccc	p.A226P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	226	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTGCTGGGCCTGCCGGACG	0.657																																																	0													28.0	35.0	33.0					11																	1030955		1987	4146	6133	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.676G>C	11.37:g.1030955C>G	ENSP00000406861:p.Ala226Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.A226P	ENST00000421673.2	37	c.676	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	c	12.16	1.854890	0.32791	.	.	ENSG00000184956	ENST00000421673	T	0.20332	2.08	2.98	0.285	0.15705	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (1);	1.021600	0.07906	U	0.973405	T	0.17323	0.0416	L	0.36672	1.1	0.09310	N	1	P	0.43885	0.82	B	0.42163	0.378	T	0.23119	-1.0197	10	0.62326	D	0.03	.	5.2081	0.15302	0.0:0.3196:0.0:0.6804	.	226	Q6W4X9	MUC6_HUMAN	P	226	ENSP00000406861:A226P	ENSP00000406861:A226P	A	-	1	0	MUC6	1020955	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	0.357000	0.20199	0.240000	0.21263	0.197000	0.17608	GCC	MUC6	-	smart_Unchr_dom_Cys-rich	ENSG00000184956		0.657	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0.00	84	0	C	XM_290540		1030955	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	61.54	5	8	SNP	0.011	G
MYCT1	80177	genome.wustl.edu	37	6	153042927	153042927	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:153042927G>A	ENST00000367245.5	+	2	255	c.247G>A	c.(247-249)Gga>Aga	p.G83R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	83						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GCTGGTACTTGGAGGATTTAT	0.408																																																	0													157.0	142.0	147.0					6																	153042927		2203	4300	6503	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.247G>A	6.37:g.153042927G>A	ENSP00000356214:p.Gly83Arg		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.G83R	ENST00000367245.5	37	c.247	CCDS5239.1	6	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950953	0.92660	.	.	ENSG00000120279	ENST00000367245	T	0.63913	-0.07	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.77592	0.4153	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78917	-0.2015	10	0.87932	D	0	-21.3901	19.99	0.97362	0.0:0.0:1.0:0.0	.	35;83	D6Q1S4;Q8N699	.;MYCT1_HUMAN	R	83	ENSP00000356214:G83R	ENSP00000356214:G83R	G	+	1	0	MYCT1	153084620	1.000000	0.71417	0.958000	0.39756	0.968000	0.65278	6.281000	0.72632	2.723000	0.93209	0.573000	0.79308	GGA	MYCT1	-	NULL	ENSG00000120279		0.408	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2	-	0.00	54	0	G	NM_025107		153042927	+1	tier1	-	no_errors	ENST00000367245	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A
MYH1	4619	genome.wustl.edu	37	17	10404047	10404047	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:10404047C>T	ENST00000226207.5	-	28	3855	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1254					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCTAGAGCGCGGCACATCTT	0.448																																																	0													141.0	126.0	131.0					17																	10404047		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3761G>A	17.37:g.10404047C>T	ENSP00000226207:p.Arg1254His		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1254H	ENST00000226207.5	37	c.3761	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196174	0.78902	.	.	ENSG00000109061	ENST00000226207	T	0.78924	-1.22	5.45	5.45	0.79879	Myosin tail (1);	0.000000	0.43110	U	0.000603	T	0.81959	0.4933	M	0.78916	2.43	0.80722	D	1	B	0.27140	0.169	B	0.33890	0.172	T	0.80598	-0.1311	10	0.59425	D	0.04	.	19.6413	0.95758	0.0:1.0:0.0:0.0	.	1254	P12882	MYH1_HUMAN	H	1254	ENSP00000226207:R1254H	ENSP00000226207:R1254H	R	-	2	0	MYH1	10344772	1.000000	0.71417	0.969000	0.41365	0.802000	0.45316	4.950000	0.63603	2.716000	0.92895	0.650000	0.86243	CGC	MYH1	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000109061		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0.00	67	0	C	NM_005963		10404047	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	44.93	38	31	SNP	1.000	T
MYPN	84665	genome.wustl.edu	37	10	69881862	69881862	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:69881862G>T	ENST00000358913.5	+	2	1155	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	MYPN_ENST00000373675.3_Nonsense_Mutation_p.E223*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E223*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	223	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGGGATAATGAAGTGAATCA	0.537																																																	0													51.0	49.0	50.0					10																	69881862		2203	4300	6503	SO:0001587	stop_gained	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.667G>T	10.37:g.69881862G>T	ENSP00000351790:p.Glu223*		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E223*	ENST00000358913.5	37	c.667	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.883907	0.98990	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	.	.	.	5.74	5.74	0.90152	.	0.252865	0.39615	N	0.001311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5147	0.27593	0.196:0.0:0.804:0.0	.	.	.	.	X	223	.	.	E	+	1	0	MYPN	69551868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.773000	0.55333	2.683000	0.91414	0.655000	0.94253	GAA	MYPN	-	NULL	ENSG00000138347		0.537	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1		0.00	34	0	G	NM_032578		69881862	+1			no_errors	ENST00000358913	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T
NASP	4678	genome.wustl.edu	37	1	46073323	46073323	+	Missense_Mutation	SNP	G	G	A	rs201683842		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:46073323G>A	ENST00000350030.3	+	6	827	c.740G>A	c.(739-741)gGa>gAa	p.G247E	NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.G249E|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.G183E	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	247	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.G249E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TCAGTTTCTGGAACTGATGTC	0.473																																																	1	Substitution - Missense(1)	lung(1)											43.0	46.0	45.0					1																	46073323		2203	4300	6503	SO:0001583	missense	0			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.740G>A	1.37:g.46073323G>A	ENSP00000255120:p.Gly247Glu		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G249E	ENST00000350030.3	37	c.746	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.126170	0.01770	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.19	-1.08	0.09936	.	0.955842	0.08790	N	0.893395	D	0.86657	0.5985	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.10296	0.001;0.001;0.003;0.001;0.001	B;B;B;B;B	0.09377	0.002;0.002;0.004;0.001;0.003	T	0.73990	-0.3808	9	.	.	.	-2.703	1.0065	0.01488	0.3429:0.1482:0.3567:0.1523	.	183;247;147;247;249	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	E	183;249;147;247;210	ENSP00000438871:G183E;ENSP00000384529:G249E;ENSP00000255120:G247E;ENSP00000436924:G210E	.	G	+	2	0	NASP	45845910	0.026000	0.19158	0.163000	0.22734	0.251000	0.25915	0.266000	0.18534	-0.078000	0.12730	-0.157000	0.13467	GGA	NASP	-	NULL	ENSG00000132780		0.473	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2		0.00	52	0	G	NM_002482		46073323	+1			no_errors	ENST00000402363	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.008	A
NCOR1	9611	genome.wustl.edu	37	17	16040727	16040727	+	Splice_Site	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:16040727C>A	ENST00000268712.3	-	14	1665		c.e14-1		RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000395848.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGAACACTCTGTAAGAAAT	0.299																																																	0													46.0	44.0	45.0					17																	16040727		2203	4299	6502	SO:0001630	splice_region_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1408-1G>T	17.37:g.16040727C>A			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	-	e13-1	ENST00000268712.3	37	c.1408-1	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750372	0.69533	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8687	0.88804	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15981452	1.000000	0.71417	0.976000	0.42696	0.840000	0.47671	7.403000	0.79983	2.528000	0.85240	0.650000	0.86243	.	NCOR1	-	-	ENSG00000141027		0.299	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5		0.00	30	0	C	NM_006311	Intron	16040727	-1			no_errors	ENST00000268712	ensembl	human	known	74_37	splice_site	10.71	25	3	SNP	1.000	A
NCR1	9437	genome.wustl.edu	37	19	55424098	55424098	+	Silent	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:55424098G>T	ENST00000291890.4	+	7	812	c.774G>T	c.(772-774)cgG>cgT	p.R258R	NCR1_ENST00000598576.1_Silent_p.R245R|NCR1_ENST00000447255.1_Silent_p.R257R|NCR1_ENST00000357397.5_Silent_p.R151R|NCR1_ENST00000594765.1_Silent_p.R257R|NCR1_ENST00000338835.5_Silent_p.R241R|NCR1_ENST00000350790.5_Silent_p.R163R	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	258					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ATCTCCTTCGGATGGGCCTGG	0.547																																																	0													131.0	90.0	104.0					19																	55424098		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.774G>T	19.37:g.55424098G>T			B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	smart_Ig_sub	p.R258	ENST00000291890.4	37	c.774	CCDS12911.1	19																																																																																			NCR1	-	NULL	ENSG00000189430		0.547	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	-	0.00	55	0	G			55424098	+1	tier1	-	no_errors	ENST00000291890	ensembl	human	known	74_37	silent	88.10	5	37	SNP	0.000	T
NEIL2	252969	genome.wustl.edu	37	8	11640908	11640908	+	Splice_Site	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:11640908G>A	ENST00000284503.6	+	4	1287	c.688G>A	c.(688-690)Ggg>Agg	p.G230R	NEIL2_ENST00000436750.3_Splice_Site_p.G230R|NEIL2_ENST00000528323.1_Splice_Site_p.G114R|NEIL2_ENST00000403422.3_Splice_Site_p.G169R|NEIL2_ENST00000455213.2_Splice_Site_p.G230R	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	230					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CTCAGGGCTAGGTATGACTCA	0.537								Base excision repair (BER), DNA glycosylases																																									0													74.0	63.0	67.0					8																	11640908		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.688+1G>A	8.37:g.11640908G>A			B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.G230R	ENST00000284503.6	37	c.688	CCDS5984.1	8	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484810	0.63962	.	.	ENSG00000154328	ENST00000455213;ENST00000403422;ENST00000528323;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	4.67	3.78	0.43462	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.000000	0.85682	D	0.000000	D	0.87954	0.6308	H	0.97852	4.09	0.50039	D	0.999841	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92138	0.5718	10	0.87932	D	0	-18.7094	14.2107	0.65762	0.0:0.1507:0.8493:0.0	.	114;230	B4DFR7;Q969S2	.;NEIL2_HUMAN	R	230;169;114;230;230;215	ENSP00000397538:G230R;ENSP00000384070:G169R;ENSP00000435657:G114R;ENSP00000394023:G230R;ENSP00000284503:G230R	ENSP00000284503:G230R	G	+	1	0	NEIL2	11678317	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.344000	0.59354	1.279000	0.44446	0.561000	0.74099	GGG	NEIL2	-	pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH	ENSG00000154328		0.537	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL2	HGNC	protein_coding	OTTHUMT00000207583.3	-	0.00	21	0	G	NM_145043	Missense_Mutation	11640908	+1	tier1	-	no_errors	ENST00000284503	ensembl	human	known	74_37	missense	66.67	4	8	SNP	1.000	A
NEUROG1	4762	genome.wustl.edu	37	5	134871157	134871157	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:134871157C>T	ENST00000314744.4	-	1	482	c.224G>A	c.(223-225)cGc>cAc	p.R75H		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	75					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTCCGGCCGCGGCGCCGCCG	0.751																																																	0													4.0	7.0	6.0					5																	134871157		1849	3721	5570	SO:0001583	missense	0			U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.224G>A	5.37:g.134871157C>T	ENSP00000317580:p.Arg75His		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R75H	ENST00000314744.4	37	c.224	CCDS4187.1	5	.	.	.	.	.	.	.	.	.	.	c	17.96	3.516021	0.64634	.	.	ENSG00000181965	ENST00000314744	D	0.96334	-3.98	4.69	4.69	0.59074	.	0.000000	0.64402	U	0.000001	D	0.96420	0.8832	L	0.29908	0.895	0.43457	D	0.995654	D	0.89917	1.0	D	0.68621	0.959	D	0.96998	0.9727	10	0.51188	T	0.08	-0.613	17.5986	0.88020	0.0:1.0:0.0:0.0	.	75	Q92886	NGN1_HUMAN	H	75	ENSP00000317580:R75H	ENSP00000317580:R75H	R	-	2	0	NEUROG1	134899056	0.175000	0.23083	0.957000	0.39632	0.837000	0.47467	3.610000	0.54125	2.160000	0.67779	0.556000	0.70494	CGC	NEUROG1	-	NULL	ENSG00000181965		0.751	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG1	HGNC	protein_coding	OTTHUMT00000251192.1	-	0.00	23	0	C	NM_006161		134871157	-1	tier1	-	no_errors	ENST00000314744	ensembl	human	known	74_37	missense	100.00	0	19	SNP	0.573	T
NLRP12	91662	genome.wustl.edu	37	19	54307316	54307316	+	Silent	SNP	G	G	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:54307316G>C	ENST00000324134.6	-	6	2643	c.2475C>G	c.(2473-2475)acC>acG	p.T825T	NLRP12_ENST00000391773.1_Silent_p.T826T|NLRP12_ENST00000351894.4_Silent_p.T825T|NLRP12_ENST00000535162.1_Silent_p.T825T|NLRP12_ENST00000391775.3_Silent_p.T825T|NLRP12_ENST00000391772.1_Silent_p.T826T|NLRP12_ENST00000354278.3_Silent_p.T825T|NLRP12_ENST00000345770.5_Silent_p.T826T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	825					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GATGTGGGTTGGTGCCGAGCA	0.567																																																	0													83.0	73.0	76.0					19																	54307316		2203	4300	6503	SO:0001819	synonymous_variant	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2475C>G	19.37:g.54307316G>C			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T825	ENST00000324134.6	37	c.2475	CCDS12864.1	19																																																																																			NLRP12	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000142405		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0.00	27	0	G	NM_144687		54307316	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.962	C
NMD3	51068	genome.wustl.edu	37	3	160956549	160956549	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:160956549G>T	ENST00000460469.1	+	8	1143	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	NMD3_ENST00000351193.2_Missense_Mutation_p.D230Y|NMD3_ENST00000472947.1_Missense_Mutation_p.D230Y			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	230					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GATCTCTCAAGATATCCATAG	0.294																																																	0													101.0	100.0	101.0					3																	160956549		2201	4297	6498	SO:0001583	missense	0			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.688G>T	3.37:g.160956549G>T	ENSP00000419004:p.Asp230Tyr		D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.D230Y	ENST00000460469.1	37	c.688	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298997	0.81025	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.63913	-0.0;-0.07;-0.0	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.985	D	0.91214	0.5001	10	0.87932	D	0	-38.3077	17.0305	0.86459	0.0:0.0:1.0:0.0	.	230;230;230	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	Y	230;230;230;110	ENSP00000307525:D230Y;ENSP00000417559:D230Y;ENSP00000419004:D230Y	ENSP00000307525:D230Y	D	+	1	0	NMD3	162439243	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.012000	0.93624	2.336000	0.79503	0.591000	0.81541	GAT	NMD3	-	pfam_NMD3	ENSG00000169251		0.294	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	-	0.00	55	0	G	NM_015938		160956549	+1	tier1	-	no_errors	ENST00000351193	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
NRD1	4898	genome.wustl.edu	37	1	52344164	52344164	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:52344164C>T	ENST00000354831.7	-	1	313	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.A42T	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	42					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAGGGTCTGGCAGCAGCAGAG	0.627																																																	0													48.0	47.0	47.0					1																	52344164		2203	4300	6503	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.124G>A	1.37:g.52344164C>T	ENSP00000346890:p.Ala42Thr		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A42T	ENST00000354831.7	37	c.124	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.338002	0.60963	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000546169	T;T	0.31769	1.52;1.48	3.73	0.732	0.18283	.	1.052400	0.07564	N	0.917434	T	0.18964	0.0455	N	0.22421	0.69	0.23144	N	0.998221	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30534	-0.9975	10	0.62326	D	0.03	.	3.1319	0.06426	0.2085:0.5581:0.0:0.2334	.	42;42;42	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	T	42	ENSP00000262679:A42T;ENSP00000346890:A42T	ENSP00000262679:A42T	A	-	1	0	NRD1	52116752	0.000000	0.05858	0.799000	0.32177	0.863000	0.49368	-1.258000	0.02863	-0.019000	0.14055	0.650000	0.86243	GCC	NRD1	-	NULL	ENSG00000078618		0.627	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1		0.00	51	0	C	NM_002525		52344164	-1			no_errors	ENST00000354831	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.293	T
NRXN1	9378	genome.wustl.edu	37	2	50463983	50463983	+	Missense_Mutation	SNP	C	C	T	rs201881725		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:50463983C>T	ENST00000406316.2	-	18	4966	c.3490G>A	c.(3490-3492)Gta>Ata	p.V1164I	NRXN1_ENST00000406859.3_Missense_Mutation_p.V1164I|NRXN1_ENST00000401710.1_Missense_Mutation_p.V182I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V1164I|NRXN1_ENST00000405472.3_Missense_Mutation_p.V1156I|NRXN1_ENST00000402717.3_Missense_Mutation_p.V1156I|NRXN1_ENST00000404971.1_Missense_Mutation_p.V1204I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000342183.5_Missense_Mutation_p.V129I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1164	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCACCAATACGGCTTCTTTC	0.443																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	118.0	106.0	110.0		385,3490,3610	4.8	0.2	2		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NRXN1	NM_138735.2,NM_004801.4,NM_001135659.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	129/443,1164/1478,1204/1548	50463983	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3490G>A	2.37:g.50463983C>T	ENSP00000384311:p.Val1164Ile		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	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.V1156I	ENST00000406316.2	37	c.3466	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	7.445	0.641410	0.14451	0.0	1.16E-4	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.80738	-1.28;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.68	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.104388	0.37483	U	0.002066	T	0.64505	0.2604	N	0.12182	0.205	0.31958	N	0.608806	B;B;B;B	0.27286	0.056;0.174;0.024;0.04	B;B;B;B	0.20384	0.005;0.015;0.007;0.029	T	0.64437	-0.6408	10	0.23302	T	0.38	.	14.4042	0.67071	0.0:0.9294:0.0:0.0706	.	1204;129;1164;1156	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	I	129;83;182;1204;1164;1156;1164;1205;1156;1164	ENSP00000341184:V129I;ENSP00000385580:V182I;ENSP00000385142:V1204I;ENSP00000384311:V1164I;ENSP00000434015:V1156I;ENSP00000385017:V1164I;ENSP00000385434:V1156I;ENSP00000385681:V1164I	ENSP00000341184:V129I	V	-	1	0	NRXN1	50317487	0.804000	0.28969	0.181000	0.23098	0.266000	0.26442	1.623000	0.37008	1.403000	0.46800	0.650000	0.86243	GTA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	60	0	C			50463983	-1	tier1	rs201881725	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	40.00	30	20	SNP	0.867	T
NTRK3	4916	genome.wustl.edu	37	15	88726700	88726700	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:88726700A>G	ENST00000360948.2	-	4	505	c.344T>C	c.(343-345)cTt>cCt	p.L115P	NTRK3_ENST00000357724.2_Missense_Mutation_p.L115P|NTRK3_ENST00000558676.1_Missense_Mutation_p.L115P|NTRK3_ENST00000540489.2_Missense_Mutation_p.L115P|NTRK3_ENST00000542733.2_Missense_Mutation_p.L17P|NTRK3_ENST00000317501.3_Missense_Mutation_p.L115P|NTRK3_ENST00000355254.2_Missense_Mutation_p.L115P|NTRK3_ENST00000394480.2_Missense_Mutation_p.L115P|NTRK3_ENST00000557856.1_Missense_Mutation_p.L115P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	115					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATGCTCCGAAGTCCTGAGTT	0.547			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													123.0	123.0	123.0					15																	88726700		2201	4299	6500	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.344T>C	15.37:g.88726700A>G	ENSP00000354207:p.Leu115Pro		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L115P	ENST00000360948.2	37	c.344	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079591	0.76528	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	H	0.97918	4.105	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.996;1.0	D;D;D;D;P;D	0.91635	0.999;0.999;0.998;0.974;0.885;0.999	D	0.92271	0.5825	10	0.87932	D	0	.	11.7404	0.51790	1.0:0.0:0.0:0.0	.	17;115;115;115;115;115	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	P	115;115;115;115;17;115;115	ENSP00000377990:L115P;ENSP00000354207:L115P;ENSP00000350356:L115P;ENSP00000347397:L115P;ENSP00000437773:L17P;ENSP00000444673:L115P;ENSP00000318328:L115P	ENSP00000318328:L115P	L	-	2	0	NTRK3	86527704	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.797000	0.75150	2.018000	0.59344	0.533000	0.62120	CTT	NTRK3	-	prints_Tyr_kinase_NGF_rcpt	ENSG00000140538		0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0.00	49	0	A			88726700	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	missense	64.81	19	35	SNP	0.999	G
NUDCD1	84955	genome.wustl.edu	37	8	110346185	110346185	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:110346185G>T	ENST00000239690.4	-	1	429	c.55C>A	c.(55-57)Cgc>Agc	p.R19S	ENY2_ENST00000521662.1_5'Flank|ENY2_ENST00000520147.1_5'Flank|ENY2_ENST00000521688.1_5'Flank	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCCTCGAAGCGGGGATCCAAC	0.572																																																	0													72.0	73.0	73.0					8																	110346185		2203	4300	6503	SO:0001583	missense	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.55C>A	8.37:g.110346185G>T	ENSP00000239690:p.Arg19Ser			Missense_Mutation	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.R19S	ENST00000239690.4	37	c.55	CCDS6312.1	8	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035469	0.54896	.	.	ENSG00000120526	ENST00000239690	T	0.16743	2.32	5.65	5.65	0.86999	.	0.371038	0.27088	N	0.020984	T	0.10465	0.0256	N	0.12182	0.205	0.80722	D	1	B	0.18013	0.025	B	0.13407	0.009	T	0.13229	-1.0517	10	0.39692	T	0.17	-5.5149	11.9289	0.52835	0.0:0.0:0.741:0.259	.	19	Q96RS6	NUDC1_HUMAN	S	19	ENSP00000239690:R19S	ENSP00000239690:R19S	R	-	1	0	NUDCD1	110415361	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.213000	0.51153	2.941000	0.99782	0.655000	0.94253	CGC	NUDCD1	-	NULL	ENSG00000120526		0.572	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1	-	0.00	39	0	G	NM_032869		110346185	-1	tier1	-	no_errors	ENST00000239690	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
NUP205	23165	genome.wustl.edu	37	7	135255911	135255911	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:135255911G>T	ENST00000285968.6	+	2	113	c.87G>T	c.(85-87)tgG>tgT	p.W29C	NUP205_ENST00000489493.1_3'UTR|NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	29					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATGCTCTTTGGAGAAGACAAC	0.353																																																	0													87.0	89.0	88.0					7																	135255911		2203	4300	6503	SO:0001583	missense	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.87G>T	7.37:g.135255911G>T	ENSP00000285968:p.Trp29Cys		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_Nup186/Nup192/Nup205	p.W29C	ENST00000285968.6	37	c.87	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982526	0.53827	.	.	ENSG00000155561	ENST00000285968	T	0.29397	1.57	5.44	4.56	0.56223	.	0.322196	0.35739	N	0.003007	T	0.32793	0.0841	L	0.36672	1.1	0.80722	D	1	P	0.50066	0.931	P	0.47864	0.559	T	0.03807	-1.1002	10	0.38643	T	0.18	-25.6679	15.6853	0.77405	0.0:0.0:0.8619:0.1381	.	29	Q92621	NU205_HUMAN	C	29	ENSP00000285968:W29C	ENSP00000285968:W29C	W	+	3	0	NUP205	134906451	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.412000	0.73303	1.297000	0.44761	-0.238000	0.12139	TGG	NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.353	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	-	0.00	56	0	G			135255911	+1	tier1	-	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
NWD1	284434	genome.wustl.edu	37	19	16902312	16902312	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:16902312C>T	ENST00000552788.1	+	12	3092	c.3092C>T	c.(3091-3093)aCg>aTg	p.T1031M	NWD1_ENST00000339803.6_Missense_Mutation_p.T896M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1031M|NWD1_ENST00000524140.2_Missense_Mutation_p.T1031M|NWD1_ENST00000523826.1_Missense_Mutation_p.T825M|NWD1_ENST00000549814.1_Missense_Mutation_p.T1031M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1031							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTCAGCTACGGGAAAACTT	0.542																																																	0													104.0	85.0	91.0					19																	16902312		2203	4300	6503	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3092C>T	19.37:g.16902312C>T	ENSP00000447224:p.Thr1031Met		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1031M	ENST00000552788.1	37	c.3092		19	.	.	.	.	.	.	.	.	.	.	C	9.850	1.193418	0.22037	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.53423	1.35;0.62;1.35;3.06;0.99;3.06	5.34	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.246709	0.38720	N	0.001584	T	0.26231	0.0640	N	0.19112	0.55	0.09310	N	1	P;P;D	0.53151	0.822;0.939;0.958	B;B;B	0.38378	0.074;0.272;0.194	T	0.14531	-1.0469	10	0.51188	T	0.08	-5.7544	7.2985	0.26408	0.0:0.7234:0.0:0.2766	.	1031;1031;896	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	896;1031;1031;1031;825;1031;896	ENSP00000428579:T1031M;ENSP00000447548:T1031M;ENSP00000369136:T1031M;ENSP00000428955:T825M;ENSP00000447224:T1031M;ENSP00000340159:T896M	ENSP00000340159:T896M	T	+	2	0	NWD1	16763312	0.268000	0.24133	0.321000	0.25320	0.001000	0.01503	1.741000	0.38238	0.252000	0.21531	-0.768000	0.03414	ACG	NWD1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000188039		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1		0.00	40	0	C	NM_001007525		16902312	+1			no_errors	ENST00000379808	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.038	T
OAT	4942	genome.wustl.edu	37	10	126090410	126090410	+	Splice_Site	SNP	T	T	C	rs386833619		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:126090410T>C	ENST00000368845.5	-	8	993		c.e8-2		OAT_ENST00000539214.1_Splice_Site|OAT_ENST00000467675.1_Splice_Site	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TGCAGACACCTGAAAGACAGT	0.522																																																	0			GRCh37	CS921157	OAT	S							97.0	75.0	82.0					10																	126090410		2203	4300	6503	SO:0001630	splice_region_variant	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.901-2A>G	10.37:g.126090410T>C			D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Splice_Site	SNP	-	e7-2	ENST00000368845.5	37	c.901-2	CCDS7639.1	10	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041041	0.35989	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.137	0.72576	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OAT	126080400	1.000000	0.71417	0.994000	0.49952	0.155000	0.21991	7.625000	0.83145	2.126000	0.65437	0.533000	0.62120	.	OAT	-	-	ENSG00000065154		0.522	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0.00	38	0	T	NM_000274	Intron	126090410	-1	tier1	-	no_errors	ENST00000368845	ensembl	human	known	74_37	splice_site	8.33	44	4	SNP	1.000	C
OR2C3	81472	genome.wustl.edu	37	1	247695139	247695139	+	Silent	SNP	G	G	A	rs149975458		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:247695139G>A	ENST00000366487.3	-	2	1036	c.675C>T	c.(673-675)gcC>gcT	p.A225A	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTTCAACACGGCCCGGGCAA	0.537																																																	0								G		0,4406		0,0,2203	98.0	94.0	95.0		675	-1.4	0.2	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2C3	NM_198074.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		225/321	247695139	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.675C>T	1.37:g.247695139G>A			Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A225	ENST00000366487.3	37	c.675	CCDS1634.2	1																																																																																			OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196242		0.537	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	-	0.00	40	0	G	NM_198074		247695139	-1	tier1	rs149975458	no_errors	ENST00000366487	ensembl	human	known	74_37	silent	27.03	27	10	SNP	0.347	A
OR2T8	343172	genome.wustl.edu	37	1	248084898	248084898	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:248084898C>T	ENST00000319968.4	+	1	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F193F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTCAGTCTTCGAAAACGCCA	0.537																																																	1	Substitution - coding silent(1)	lung(1)											5.0	3.0	4.0					1																	248084898		1775	3446	5221	SO:0001819	synonymous_variant	0				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.579C>T	1.37:g.248084898C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F193	ENST00000319968.4	37	c.579	CCDS31100.1	1																																																																																			OR2T8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177462		0.537	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	-	0.00	29	0	C	NM_001005522		248084898	+1	tier1	-	no_errors	ENST00000319968	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.000	T
OR2T33	391195	genome.wustl.edu	37	1	248436538	248436538	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:248436538G>A	ENST00000318021.2	-	1	600	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGCGTTTTCGAAGACTGAAG	0.527																																																	0													24.0	27.0	26.0					1																	248436538		2193	4274	6467	SO:0001819	synonymous_variant	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.579C>T	1.37:g.248436538G>A			B2RNN0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F193	ENST00000318021.2	37	c.579	CCDS31109.1	1																																																																																			OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177212		0.527	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0.00	36	0	G	NM_001004695		248436538	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	silent	24.14	44	14	SNP	0.000	A
OR5M3	219482	genome.wustl.edu	37	11	56237202	56237202	+	Missense_Mutation	SNP	G	G	C	rs148918177		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:56237202G>C	ENST00000312240.2	-	1	812	c.772C>G	c.(772-774)Ctc>Gtc	p.L258V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GGACGTCTGAGATACATGAAG	0.498																																																	0								G	VAL/LEU	1,4399	2.1+/-5.4	0,1,2199	34.0	34.0	34.0		772	1.9	0.8	11	dbSNP_134	34	0,8590		0,0,4295	no	missense	OR5M3	NM_001004742.2	32	0,1,6494	CC,CG,GG		0.0,0.0227,0.0077	possibly-damaging	258/308	56237202	1,12989	2200	4295	6495	SO:0001583	missense	0			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.772C>G	11.37:g.56237202G>C	ENSP00000312208:p.Leu258Val		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L258V	ENST00000312240.2	37	c.772	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384837	0.25031	2.27E-4	0.0	ENSG00000174937	ENST00000312240	T	0.39787	1.06	5.08	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.198137	0.25076	N	0.033332	T	0.36386	0.0965	L	0.39898	1.24	0.09310	N	1	P	0.46142	0.873	P	0.51453	0.67	T	0.12344	-1.0551	10	0.37606	T	0.19	-13.0039	1.7997	0.03068	0.1972:0.1542:0.4905:0.1582	.	258	Q8NGP4	OR5M3_HUMAN	V	258	ENSP00000312208:L258V	ENSP00000312208:L258V	L	-	1	0	OR5M3	55993778	0.000000	0.05858	0.849000	0.33467	0.599000	0.36880	-0.959000	0.03853	0.417000	0.25871	0.549000	0.68633	CTC	OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174937		0.498	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	-	0.00	42	0	G	NM_001004742		56237202	-1	tier1	rs148918177	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	91.43	3	32	SNP	0.039	C
OS9	10956	genome.wustl.edu	37	12	58111997	58111997	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:58111997G>T	ENST00000315970.7	+	11	1244	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	OS9_ENST00000413095.2_Missense_Mutation_p.E195D|OS9_ENST00000389146.6_Missense_Mutation_p.E401D|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.E401D|OS9_ENST00000257966.8_Missense_Mutation_p.E402D|OS9_ENST00000389142.5_Missense_Mutation_p.E401D|OS9_ENST00000439210.2_Missense_Mutation_p.E342D|OS9_ENST00000435406.2_Missense_Mutation_p.E349D|OS9_ENST00000551035.1_Missense_Mutation_p.E369D	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	401					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAACCAGAGAAGGAAAGGG	0.537																																																	0													166.0	147.0	153.0					12																	58111997		2203	4300	6503	SO:0001583	missense	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1203G>T	12.37:g.58111997G>T	ENSP00000318165:p.Glu401Asp		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E401D	ENST00000315970.7	37	c.1203	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	12.67	2.009024	0.35415	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.77;1.78;1.37;1.37;1.37;1.37;1.37;1.37	5.54	-1.13	0.09775	.	2.151960	0.01644	N	0.024194	T	0.29976	0.0750	L	0.29908	0.895	0.09310	N	1	B;B;P;B;B;B;B;B	0.41784	0.023;0.066;0.762;0.014;0.039;0.008;0.062;0.062	B;B;B;B;B;B;B;B	0.42462	0.019;0.043;0.388;0.026;0.014;0.012;0.04;0.024	T	0.21348	-1.0248	10	0.39692	T	0.17	.	6.1041	0.20063	0.3595:0.3824:0.2582:0.0	.	342;369;195;402;401;401;401;401	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	D	401;401;342;401;195;369;402;349;401	ENSP00000450010:E401D;ENSP00000318165:E401D;ENSP00000407360:E342D;ENSP00000373798:E401D;ENSP00000413112:E195D;ENSP00000447866:E369D;ENSP00000257966:E402D;ENSP00000389632:E349D;ENSP00000373794:E401D	ENSP00000257966:E402D	E	+	3	2	OS9	56398264	0.021000	0.18746	0.056000	0.19401	0.085000	0.17905	-0.016000	0.12613	-0.071000	0.12886	-0.892000	0.02923	GAG	OS9	-	NULL	ENSG00000135506		0.537	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1		0.00	24	0	G	NM_006812		58111997	+1			no_errors	ENST00000315970	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.006	T
PAPPA	5069	genome.wustl.edu	37	9	119109306	119109306	+	Splice_Site	SNP	C	C	T	rs538031087		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:119109306C>T	ENST00000328252.3	+	15	4151	c.3782C>T	c.(3781-3783)aCg>aTg	p.T1261M	PAPPA_ENST00000534838.1_Splice_Site_p.T299M	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1261	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCCTTTCAGACGGGACCCAGC	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21320	0.0		0.0	False		,,,				2504	0.0																0													88.0	71.0	76.0					9																	119109306		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3781-1C>T	9.37:g.119109306C>T			B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.T1261M	ENST00000328252.3	37	c.3782	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650770	0.29336	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.76316	-1.01;-1.01	5.76	-5.32	0.02722	Complement control module (2);Sushi/SCR/CCP (2);	1.102140	0.06615	N	0.756414	T	0.61602	0.2360	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.002;0.004	T	0.43294	-0.9400	10	0.32370	T	0.25	9.0166	15.5507	0.76148	0.0:0.363:0.0:0.637	.	299;1261	F5GZ19;Q13219	.;PAPP1_HUMAN	M	1261;299	ENSP00000330658:T1261M;ENSP00000441461:T299M	ENSP00000330658:T1261M	T	+	2	0	PAPPA	118149127	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.552000	0.06020	-1.225000	0.02578	-1.306000	0.01317	ACG	PAPPA	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000182752		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	-	0.00	51	0	C	NM_002581	Missense_Mutation	119109306	+1	tier1	-	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	76.00	12	38	SNP	0.000	T
PATZ1	23598	genome.wustl.edu	37	22	31724828	31724828	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:31724828C>G	ENST00000266269.5	-	4	2219	c.1590G>C	c.(1588-1590)gaG>gaC	p.E530D	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.A509P|PATZ1_ENST00000351933.4_Intron	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	530					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TCAGGATGGGCTCCTGGTGCC	0.552																																																	0													77.0	64.0	68.0					22																	31724828		2203	4300	6503	SO:0001583	missense	0			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1590G>C	22.37:g.31724828C>G	ENSP00000266269:p.Glu530Asp		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E530D	ENST00000266269.5	37	c.1590	CCDS13894.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.811664|2.811664	0.50527|0.50527	.|.	.|.	ENSG00000100105|ENSG00000100105	ENST00000405309|ENST00000266269	T|T	0.10288|0.10099	2.89|2.91	4.91|4.91	3.88|3.88	0.44766|0.44766	.|.	.|0.499234	.|0.19316	.|N	.|0.117277	T|T	0.09024|0.09024	0.0223|0.0223	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|P	0.02656|0.38535	0.0|0.635	B|B	0.04013|0.30179	0.001|0.112	T|T	0.11060|0.11060	-1.0603|-1.0603	8|9	0.27082|0.87932	T|D	0.32|0	-18.2621|-18.2621	10.1853|10.1853	0.42993|0.42993	0.0:0.8278:0.0:0.1722|0.0:0.8278:0.0:0.1722	.|.	509|530	Q9HBE1-2|Q9HBE1	.|PATZ1_HUMAN	P|D	509|530	ENSP00000384173:A509P|ENSP00000266269:E530D	ENSP00000384173:A509P|ENSP00000266269:E530D	A|E	-|-	1|3	0|2	PATZ1|PATZ1	30054828|30054828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.797000|1.797000	0.38804|0.38804	1.178000|1.178000	0.42870|0.42870	0.462000|0.462000	0.41574|0.41574	GCC|GAG	PATZ1	-	NULL	ENSG00000100105		0.552	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	-	0.00	48	0	C	NM_032052		31724828	-1	tier1	-	no_errors	ENST00000266269	ensembl	human	known	74_37	missense	15.15	54	10	SNP	1.000	G
PCDH10	57575	genome.wustl.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																																	0																																										SO:0001651	inframe_deletion	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del		Q4W5F6|Q96SF0	In_Frame_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C762in_frame_del	ENST00000264360.5	37	c.2274_2276	CCDS34063.1	4																																																																																			PCDH10	-	NULL	ENSG00000138650		0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2		0.00	50	0	CTG	NM_032961		134073571	+1	tier1		no_errors	ENST00000264360	ensembl	human	known	74_37	in_frame_del	15.79	32	6	DEL	0.999:1.000:1.000	-
PCDHA11	56138	genome.wustl.edu	37	5	140250534	140250534	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:140250534G>A	ENST00000398640.2	+	1	1846	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGGGCGGCTCGCGCAT	0.667																																																	0													42.0	51.0	48.0					5																	140250534		2202	4299	6501	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1846G>A	5.37:g.140250534G>A	ENSP00000381636:p.Gly616Ser		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G616S	ENST00000398640.2	37	c.1846	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.517379	0.00975	.	.	ENSG00000249158	ENST00000398640	T	0.52057	0.68	4.78	1.88	0.25563	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23054	0.0557	N	0.11255	0.115	0.09310	N	1	B;B	0.26258	0.145;0.046	B;B	0.20767	0.031;0.025	T	0.23655	-1.0182	9	0.12430	T	0.62	.	7.11	0.25384	0.3967:0.0:0.6033:0.0	.	616;616	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	616	ENSP00000381636:G616S	ENSP00000381636:G616S	G	+	1	0	PCDHA11	140230718	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	1.160000	0.31761	0.073000	0.16731	-1.189000	0.01698	GGC	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0.00	138	0	G	NM_018902		140250534	+1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	41.50	85	61	SNP	0.000	A
PCDHGB7	56099	genome.wustl.edu	37	5	140798649	140798649	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:140798649A>C	ENST00000398594.2	+	1	1223	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAACAGATGAGGCCCTGGAT	0.488																																																	0													43.0	47.0	46.0					5																	140798649		2052	4178	6230	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1223A>C	5.37:g.140798649A>C	ENSP00000381594:p.Glu408Ala		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E408A	ENST00000398594.2	37	c.1223	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	a	3.744	-0.052959	0.07362	.	.	ENSG00000254122	ENST00000398594	T	0.52295	0.67	5.31	3.54	0.40534	Cadherin (4);Cadherin-like (1);	1.044460	0.07741	U	0.946986	T	0.27594	0.0678	N	0.03967	-0.31	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20773	-1.0265	10	0.31617	T	0.26	.	11.5918	0.50949	0.1435:0.0:0.8565:0.0	.	408;408	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	A	408	ENSP00000381594:E408A	ENSP00000381594:E408A	E	+	2	0	PCDHGB7	140778833	0.000000	0.05858	0.190000	0.23270	0.982000	0.71751	0.212000	0.17497	0.833000	0.34828	-0.232000	0.12228	GAG	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.488	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0.00	25	0	A	NM_018927		140798649	+1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.358	C
PCID2	55795	genome.wustl.edu	37	13	113834524	113834525	+	In_Frame_Ins	INS	-	-	TTC	rs185589684		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:113834524_113834525insTTC	ENST00000337344.4	-	11	883_884	c.807_808insGAA	c.(805-810)gagctc>gagGAActc	p.269_270insE	PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375459.1_In_Frame_Ins_p.267_268insE|PCID2_ENST00000375457.2_In_Frame_Ins_p.267_268insE|PCID2_ENST00000246505.5_In_Frame_Ins_p.323_324insE|PCID2_ENST00000375477.1_In_Frame_Ins_p.269_270insE|PCID2_ENST00000375479.2_In_Frame_Ins_p.269_270insE	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	269					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TTTTTCAGGAGCTCCACAGTGG	0.396																																																	0																																										SO:0001652	inframe_insertion	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.807_808insGAA	13.37:g.113834524_113834525insTTC	ENSP00000337405:p.Glu269_Glu269dup		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	In_Frame_Ins	INS	pfam_PCI_dom,smart_PAM	p.323in_frame_insE	ENST00000337344.4	37	c.970_969	CCDS9532.2	13																																																																																			PCID2	-	smart_PAM	ENSG00000126226		0.396	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1		0.00	56	0	-	NM_018386		113834525	-1	tier1		no_errors	ENST00000246505	ensembl	human	known	74_37	in_frame_ins	19.48	62	15	INS	1.000:1.000	TTC
PCLO	27445	genome.wustl.edu	37	7	82546042	82546042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:82546042delT	ENST00000333891.9	-	7	11597	c.11260delA	c.(11260-11262)accfs	p.T3754fs	PCLO_ENST00000437081.1_Frame_Shift_Del_p.T474fs|PCLO_ENST00000423517.2_Frame_Shift_Del_p.T3754fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTGTGTTGGTTCTGCAGATC	0.468																																																	0													125.0	112.0	116.0					7																	82546042		1896	4148	6044	SO:0001589	frameshift_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11260delA	7.37:g.82546042delT	ENSP00000334319:p.Thr3754fs			Frame_Shift_Del	DEL	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.T3754fs	ENST00000333891.9	37	c.11260	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.468	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0.00	66	0	T	NM_014510		82546042	-1	tier1		no_errors	ENST00000333891	ensembl	human	known	74_37	frame_shift_del	55.10	22	27	DEL	1.000	-
PDE4DIP	9659	genome.wustl.edu	37	1	144921977	144921977	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:144921977C>T	ENST00000369354.3	-	9	1241	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S351N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S351N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S417N|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S138N|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S514N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S488N|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S514N|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S351N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S488N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	351					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCAAGTTGGCTGCAGAATAA	0.473			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													217.0	231.0	226.0					1																	144921977		2203	4296	6499	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1052G>A	1.37:g.144921977C>T	ENSP00000358360:p.Ser351Asn		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S351N	ENST00000369354.3	37	c.1052	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927836	0.73327	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408;ENST00000532801	T;T;T;T;T;T;T;T;T;T;T	0.53857	4.68;4.77;4.75;4.77;4.77;3.78;3.78;2.71;2.71;2.69;0.6	5.82	5.82	0.92795	.	.	.	.	.	T	0.59662	0.2210	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.988;0.983;0.993;0.997	P;P;P;P;D	0.67900	0.718;0.844;0.798;0.86;0.954	T	0.60752	-0.7201	9	0.52906	T	0.07	.	13.2163	0.59863	0.0:0.8404:0.1596:0.0	.	514;351;514;417;351	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	N	417;351;351;514;488;488;351;351;514;514;138;80	ENSP00000327209:S417N;ENSP00000358360:S351N;ENSP00000358363:S351N;ENSP00000435654:S488N;ENSP00000358366:S488N;ENSP00000358357:S351N;ENSP00000358355:S351N;ENSP00000316434:S514N;ENSP00000433392:S514N;ENSP00000436791:S138N;ENSP00000436751:S80N	ENSP00000327209:S417N	S	-	2	0	PDE4DIP	143633334	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.360000	0.44151	2.754000	0.94517	0.650000	0.86243	AGC	PDE4DIP	-	NULL	ENSG00000178104		0.473	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0.00	112	0	C	NM_022359		144921977	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
PHKG2	5261	genome.wustl.edu	37	16	30764777	30764777	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:30764777G>T	ENST00000563588.1	+	6	694	c.455G>T	c.(454-456)cGa>cTa	p.R152L	PHKG2_ENST00000328273.7_Missense_Mutation_p.R152L|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.R152L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ATTGTGCATCGAGATCTGAAG	0.542																																																	0													72.0	70.0	70.0					16																	30764777		2197	4300	6497	SO:0001583	missense	0			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.455G>T	16.37:g.30764777G>T	ENSP00000455607:p.Arg152Leu		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R152L	ENST00000563588.1	37	c.455	CCDS10690.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.454977	0.96223	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.60171	0.21;0.21	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38381	N	0.001704	T	0.79323	0.4426	M	0.87381	2.88	0.80722	D	1	D;D	0.56287	0.965;0.975	D;P	0.65233	0.933;0.889	T	0.82594	-0.0380	10	0.87932	D	0	-3.6489	18.4328	0.90632	0.0:0.0:1.0:0.0	.	152;152	P15735;P15735-2	PHKG2_HUMAN;.	L	152	ENSP00000329968:R152L;ENSP00000388571:R152L	ENSP00000329968:R152L	R	+	2	0	PHKG2	30672278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.633000	0.89246	0.655000	0.94253	CGA	PHKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000156873		0.542	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2		0.00	46	0	G	NM_000294		30764777	+1			no_errors	ENST00000563588	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
PHLDB2	90102	genome.wustl.edu	37	3	111688671	111688671	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:111688671C>T	ENST00000431670.2	+	16	3861	c.3450C>T	c.(3448-3450)ctC>ctT	p.L1150L	PHLDB2_ENST00000495180.1_Silent_p.L641L|PHLDB2_ENST00000481953.1_Silent_p.L1107L|PHLDB2_ENST00000412622.1_Silent_p.L1107L|PHLDB2_ENST00000393925.3_Silent_p.L1150L|PHLDB2_ENST00000393923.3_Silent_p.L1134L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.L1107L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGGATTCCTCATCAAAATGG	0.418																																																	1	Substitution - coding silent(1)	breast(1)											135.0	138.0	137.0					3																	111688671		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3450C>T	3.37:g.111688671C>T			A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1150	ENST00000431670.2	37	c.3450	CCDS46886.1	3																																																																																			PHLDB2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000144824		0.418	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1		0.00	47	0	C	NM_145753		111688671	+1			no_errors	ENST00000393925	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.995	T
PKD1	5310	genome.wustl.edu	37	16	2161095	2161095	+	Missense_Mutation	SNP	G	G	A	rs376991027		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:2161095G>A	ENST00000262304.4	-	15	4281	c.4073C>T	c.(4072-4074)gCg>gTg	p.A1358V	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.A1358V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1358	PKD 8. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCACCAGCGCCAGGGGGAA	0.647																																																	0								G	VAL/ALA,VAL/ALA	0,4384		0,0,2192	34.0	36.0	35.0		4073,4073	-6.2	0.0	16		35	3,8589	3.0+/-9.4	0,3,4293	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	64,64	0,3,6485	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	1358/4303,1358/4304	2161095	3,12973	2192	4296	6488	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4073C>T	16.37:g.2161095G>A	ENSP00000262304:p.Ala1358Val		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A1358V	ENST00000262304.4	37	c.4073	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	g	10.53	1.377359	0.24944	0.0	3.49E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.60920	0.15;0.15	5.58	-6.23	0.02052	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.497642	0.22829	N	0.055140	T	0.36690	0.0976	N	0.22421	0.69	0.19300	N	0.99998	B;B	0.17852	0.02;0.024	B;B	0.20767	0.019;0.031	T	0.06899	-1.0801	10	0.34782	T	0.22	.	13.4112	0.60944	0.5853:0.0:0.4147:0.0	.	1358;1358	P98161-3;P98161	.;PKD1_HUMAN	V	1358;1358;1039	ENSP00000262304:A1358V;ENSP00000399501:A1358V	ENSP00000262304:A1358V	A	-	2	0	PKD1	2101096	0.937000	0.31787	0.000000	0.03702	0.002000	0.02628	1.754000	0.38369	-1.344000	0.02216	-0.401000	0.06369	GCG	PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.647	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	111	0	G			2161095	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	39.05	64	41	SNP	0.189	A
PKD1L1	168507	genome.wustl.edu	37	7	47969077	47969077	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:47969077C>T	ENST00000289672.2	-	7	834	c.784G>A	c.(784-786)Gca>Aca	p.A262T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	262					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GACTGCGATGCCGTGAAGCTG	0.557																																																	0													61.0	64.0	63.0					7																	47969077		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.784G>A	7.37:g.47969077C>T	ENSP00000289672:p.Ala262Thr		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.A262T	ENST00000289672.2	37	c.784	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	5.949	0.359155	0.11239	.	.	ENSG00000158683	ENST00000289672	T	0.26810	1.71	3.98	2.15	0.27550	.	28.230500	0.00481	U	0.000137	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.26363	0.147	B	0.19148	0.024	T	0.21109	-1.0255	10	0.59425	D	0.04	-1.3225	6.2346	0.20756	0.0:0.7655:0.0:0.2345	.	262	Q8TDX9	PK1L1_HUMAN	T	262	ENSP00000289672:A262T	ENSP00000289672:A262T	A	-	1	0	PKD1L1	47935602	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.738000	0.04871	0.459000	0.27016	-0.225000	0.12378	GCA	PKD1L1	-	NULL	ENSG00000158683		0.557	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0.00	31	0	C	NM_138295		47969077	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T
PKLR	5313	genome.wustl.edu	37	1	155270054	155270054	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:155270054G>A	ENST00000342741.4	-	2	156	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	PKLR_ENST00000392414.3_Missense_Mutation_p.R9W	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	40			R -> W (in PKRD). {ECO:0000269|PubMed:19085939}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTGGCCCGCCGCAGATACCCC	0.627																																																	0													17.0	18.0	18.0					1																	155270054		2201	4294	6495	SO:0001583	missense	0			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.118C>T	1.37:g.155270054G>A	ENSP00000339933:p.Arg40Trp		O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.R40W	ENST00000342741.4	37	c.118	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476230	0.44044	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741	D;D	0.99748	-6.52;-6.62	4.61	-4.62	0.03370	.	0.236433	0.35151	N	0.003415	D	0.98289	0.9433	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;0.999	P;P	0.56434	0.798;0.798	D	0.98310	1.0523	10	0.87932	D	0	-6.9573	10.5989	0.45354	0.0:0.1154:0.214:0.6705	.	40;31	P30613;B1AVT1	KPYR_HUMAN;.	W	65;9;40	ENSP00000376214:R9W;ENSP00000339933:R40W	ENSP00000339933:R40W	R	-	1	2	PKLR	153536678	0.031000	0.19500	0.120000	0.21714	0.418000	0.31294	0.695000	0.25527	-1.226000	0.02574	-0.302000	0.09304	CGG	PKLR	-	NULL	ENSG00000143627		0.627	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2		0.00	24	0	G	NM_000298		155270054	-1			no_errors	ENST00000342741	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.009	A
PLCG2	5336	genome.wustl.edu	37	16	81934352	81934352	+	Silent	SNP	G	G	T	rs369281824		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:81934352G>T	ENST00000359376.3	+	14	1543	c.1329G>T	c.(1327-1329)tcG>tcT	p.S443S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	443	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCCCTCGCCCAGCCAGC	0.637																																																	0													37.0	42.0	40.0					16																	81934352		2122	4235	6357	SO:0001819	synonymous_variant	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1329G>T	16.37:g.81934352G>T			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.S443	ENST00000359376.3	37	c.1329	CCDS42204.1	16																																																																																			PLCG2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000197943		0.637	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1		0.00	50	0	G			81934352	+1			no_errors	ENST00000359376	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.047	T
PLD1	5337	genome.wustl.edu	37	3	171455451	171455452	+	Splice_Site	INS	-	-	A	rs545683379|rs71178233		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:171455451_171455452insA	ENST00000351298.4	-	3	287		c.e3-2		PLD1_ENST00000340989.4_Splice_Site|PLD1_ENST00000342215.6_Splice_Site|PLD1_ENST00000356327.5_Splice_Site	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific						chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGATATACACTAAAAAAAAAAG	0.327																																					NSCLC(149;2174 3517 34058)												0																																										SO:0001630	splice_region_variant	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.161-2->T	3.37:g.171455461_171455461dupA				Splice_Site	INS	-	e2-2	ENST00000351298.4	37	c.161-3_161-2	CCDS3216.1	3																																																																																			PLD1	-	-	ENSG00000075651		0.327	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2		0.00	22	0	-	NM_002662	Intron	171455452	-1	tier1		no_errors	ENST00000351298	ensembl	human	known	74_37	splice_site_ins	10.34	26	3	INS	0.999:0.901	A
PLEKHN1	84069	genome.wustl.edu	37	1	908701	908701	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:908701A>G	ENST00000379409.2	+	11	1474	c.1444A>G	c.(1444-1446)Acc>Gcc	p.T482A	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.T430A|PLEKHN1_ENST00000379407.3_Intron			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	482										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCTGGACCTGACCCAGGTGGG	0.701																																																	0													9.0	10.0	10.0					1																	908701		2162	4252	6414	SO:0001583	missense	0			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1444A>G	1.37:g.908701A>G	ENSP00000368719:p.Thr482Ala		Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.T482A	ENST00000379409.2	37	c.1444		1	.	.	.	.	.	.	.	.	.	.	A	8.172	0.791891	0.16258	.	.	ENSG00000187583	ENST00000379410;ENST00000379409	T;T	0.48836	0.81;0.8	4.4	3.27	0.37495	.	0.477328	0.21939	N	0.066912	T	0.30293	0.0760	L	0.32530	0.975	0.30037	N	0.812928	B;B	0.28350	0.208;0.005	B;B	0.22152	0.038;0.007	T	0.24190	-1.0167	10	0.51188	T	0.08	.	3.6159	0.08077	0.7027:0.0:0.1045:0.1927	.	482;430	Q494U1;Q494U1-2	PKHN1_HUMAN;.	A	430;482	ENSP00000368720:T430A;ENSP00000368719:T482A	ENSP00000368719:T482A	T	+	1	0	PLEKHN1	898564	0.032000	0.19561	1.000000	0.80357	0.567000	0.35839	0.575000	0.23729	0.735000	0.32537	0.386000	0.25728	ACC	PLEKHN1	-	NULL	ENSG00000187583		0.701	PLEKHN1-005	KNOWN	basic	protein_coding	PLEKHN1	HGNC	protein_coding	OTTHUMT00000473256.1	-	0.00	78	0	A	NM_032129		908701	+1	tier1	-	no_errors	ENST00000379409	ensembl	human	known	74_37	missense	48.39	32	30	SNP	0.994	G
PLXNB2	23654	genome.wustl.edu	37	22	50716391	50716391	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:50716391C>T	ENST00000449103.1	-	32	5079	c.4939G>A	c.(4939-4941)Ggg>Agg	p.G1647R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.G1647R			O15031	PLXB2_HUMAN	plexin B2	1647					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCGCGTGCCCAGGCGCCAGC	0.617																																																	0													46.0	54.0	51.0					22																	50716391		2161	4271	6432	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4939G>A	22.37:g.50716391C>T	ENSP00000409171:p.Gly1647Arg		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1647R	ENST00000449103.1	37	c.4939	CCDS43035.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.725|8.725	0.915310|0.915310	0.17907|0.17907	.|.	.|.	ENSG00000196576|ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000411680|ENST00000399964	T;T;T|.	0.11930|.	2.73;2.73;2.73|.	4.08|4.08	0.344|0.344	0.16006|0.16006	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);|.	0.393509|.	0.24564|.	N|.	0.037454|.	T|.	0.31606|.	0.0802|.	L|L	0.52759|0.52759	1.655|1.655	0.09310|0.09310	N|N	1|1	B|.	0.29212|.	0.237|.	B|.	0.30105|.	0.111|.	T|.	0.26744|.	-1.0094|.	10|.	0.13470|0.13470	T|T	0.59|0.59	.|.	3.1893|3.1893	0.06612|0.06612	0.0:0.2908:0.2244:0.4848|0.0:0.2908:0.2244:0.4848	.|.	1647|.	O15031|.	PLXB2_HUMAN|.	R|X	1647;1647;199|277	ENSP00000409171:G1647R;ENSP00000352288:G1647R;ENSP00000400679:G199R|.	ENSP00000352288:G1647R|ENSP00000382845:W277X	G|W	-|-	1|2	0|0	PLXNB2|PLXNB2	49058518|49058518	0.633000|0.633000	0.27181|0.27181	0.002000|0.002000	0.10522|0.10522	0.013000|0.013000	0.08279|0.08279	1.965000|1.965000	0.40471|0.40471	0.296000|0.296000	0.22592|0.22592	0.491000|0.491000	0.48974|0.48974	GGG|TGG	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0.00	44	0	C	NM_012401		50716391	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	19.30	46	11	SNP	0.034	T
PNLIPRP3	119548	genome.wustl.edu	37	10	118236283	118236283	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:118236283A>C	ENST00000369230.3	+	11	1438	c.1292A>C	c.(1291-1293)aAg>aCg	p.K431T		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	431	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303																																																	0													95.0	99.0	97.0					10																	118236283		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1292A>C	10.37:g.118236283A>C	ENSP00000358232:p.Lys431Thr			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.K431T	ENST00000369230.3	37	c.1292	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356734	0.24598	.	.	ENSG00000203837	ENST00000369230	T	0.65549	-0.16	4.13	1.42	0.22433	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.581864	0.14711	N	0.302929	T	0.47192	0.1432	L	0.33137	0.985	0.21064	N	0.999796	P	0.37370	0.592	B	0.37091	0.241	T	0.28267	-1.0049	10	0.33141	T	0.24	.	8.7727	0.34742	0.6344:0.3656:0.0:0.0	.	431	Q17RR3	LIPR3_HUMAN	T	431	ENSP00000358232:K431T	ENSP00000358232:K431T	K	+	2	0	PNLIPRP3	118226273	0.572000	0.26668	0.480000	0.27341	0.476000	0.33039	0.250000	0.18235	0.670000	0.31165	0.533000	0.62120	AAG	PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.303	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0.00	61	0	A	XM_058404		118236283	+1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	63.86	30	53	SNP	0.620	C
POM121L9P	29774	genome.wustl.edu	37	22	24659950	24659950	+	RNA	DEL	C	C	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:24659950delC	ENST00000414583.2	+	0	3475					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GCGGCCAGAACCCCTGCGAAT	0.572																																																	0																																												0			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659950delC				RNA	DEL	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-	ENSG00000128262		0.572	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1		0.00	19	0	C	NM_014549		24659950	+1	tier1		no_errors	ENST00000414583	ensembl	human	known	74_37	rna	12.00	22	3	DEL	0.000	-
PPP4C	5531	genome.wustl.edu	37	16	30087741	30087741	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:30087741C>T	ENST00000279387.7	+	2	211	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	PPP4C_ENST00000561610.1_Missense_Mutation_p.R15C	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	15					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CGAGCAGCTGCGTCGCTGCGA	0.716																																																	0													29.0	26.0	27.0					16																	30087741		2196	4300	6496	SO:0001583	missense	0				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.43C>T	16.37:g.30087741C>T	ENSP00000279387:p.Arg15Cys		P33172	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.R15C	ENST00000279387.7	37	c.43	CCDS10669.1	16	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864492	0.71949	.	.	ENSG00000149923	ENST00000279387	T	0.06142	3.34	6.16	4.14	0.48551	.	0.050764	0.85682	D	0.000000	T	0.14743	0.0356	M	0.85462	2.755	0.80722	D	1	P	0.52316	0.952	P	0.44561	0.453	T	0.07083	-1.0791	10	0.59425	D	0.04	-14.8776	13.724	0.62748	0.3967:0.6033:0.0:0.0	.	15	P60510	PP4C_HUMAN	C	15	ENSP00000279387:R15C	ENSP00000279387:R15C	R	+	1	0	PPP4C	29995242	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.721000	0.25911	1.598000	0.50083	0.650000	0.86243	CGT	PPP4C	-	NULL	ENSG00000149923		0.716	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4C	HGNC	protein_coding	OTTHUMT00000255155.2	-	0.00	73	0	C	NM_002720		30087741	+1	tier1	-	no_errors	ENST00000279387	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.998	T
PRDM15	63977	genome.wustl.edu	37	21	43259831	43259831	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr21:43259831C>A	ENST00000269844.3	-	14	1980	c.1870G>T	c.(1870-1872)Gcc>Tcc	p.A624S	PRDM15_ENST00000538201.1_Missense_Mutation_p.A258S|PRDM15_ENST00000447207.2_Missense_Mutation_p.A258S|PRDM15_ENST00000422911.1_Missense_Mutation_p.A295S|PRDM15_ENST00000398548.1_Missense_Mutation_p.A295S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	624					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCTTTGGTGGCAACATTCTCG	0.582																																																	0													148.0	153.0	151.0					21																	43259831		2203	4300	6503	SO:0001583	missense	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1870G>T	21.37:g.43259831C>A	ENSP00000269844:p.Ala624Ser		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A624S	ENST00000269844.3	37	c.1870	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996408	0.35226	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.07688	3.22;3.21;3.23;3.2;3.17	1.83	-3.03	0.05429	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P;B;B	0.38504	0.634;0.18;0.361	B;B;B	0.35607	0.206;0.055;0.024	T	0.30208	-0.9986	9	0.39692	T	0.17	.	0.1048	0.00051	0.2396:0.2454:0.2388:0.2762	.	624;295;295	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	295;295;258;258;624;258	ENSP00000408592:A295S;ENSP00000381556:A295S;ENSP00000444044:A258S;ENSP00000390245:A258S;ENSP00000269844:A624S	ENSP00000269844:A624S	A	-	1	0	PRDM15	42132900	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-0.379000	0.07437	-0.866000	0.04068	0.655000	0.94253	GCC	PRDM15	-	NULL	ENSG00000141956		0.582	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0.00	60	0	C	NM_022115		43259831	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	6.90	53	4	SNP	0.000	A
PRIM2	5558	genome.wustl.edu	37	6	57498976	57498976	+	3'UTR	SNP	T	T	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:57498976T>G	ENST00000389488.2	+	0	1327				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GATTTTGGATTTAGTAAAGGG	0.289																																																	0													77.0	70.0	73.0					6																	57498976		1833	4083	5916	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1324T>G	6.37:g.57498976T>G			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.289	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0.00	141	0	T	NM_000947		57498976	+1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	10.86	156	19	SNP	0.965	G
PRKDC	5591	genome.wustl.edu	37	8	48744396	48744396	+	Silent	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:48744396A>G	ENST00000314191.2	-	61	8297	c.8241T>C	c.(8239-8241)gtT>gtC	p.V2747V	PRKDC_ENST00000338368.3_Silent_p.V2747V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2748	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTGCTCAGCAACGCCTTTTC	0.512								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													169.0	175.0	173.0					8																	48744396		2011	4179	6190	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8241T>C	8.37:g.48744396A>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V2747	ENST00000314191.2	37	c.8241		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.512	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	79	0	A	NM_001081640		48744396	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	53.52	33	38	SNP	0.004	G
PROKR2	128674	genome.wustl.edu	37	20	5294626	5294626	+	Silent	SNP	G	G	A	rs144778137	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:5294626G>A	ENST00000217270.3	-	1	389	c.390C>T	c.(388-390)tcC>tcT	p.S130S	PROKR2_ENST00000546004.1_Silent_p.S130S	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	130					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGTAGTTGACGGAGGCACAGA	0.612										HNSCC(71;0.22)																																							0								G		1,4405	2.1+/-5.4	0,1,2202	122.0	92.0	102.0		390	-10.2	0.4	20	dbSNP_134	102	6,8594	5.7+/-21.5	0,6,4294	no	coding-synonymous	PROKR2	NM_144773.2		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		130/385	5294626	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	0			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.390C>T	20.37:g.5294626G>A			A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S130	ENST00000217270.3	37	c.390	CCDS13089.1	20																																																																																			PROKR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000101292		0.612	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	-	0.00	58	0	G	NM_144773		5294626	-1	tier1	rs144778137	no_errors	ENST00000217270	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.410	A
FZD4	8322	genome.wustl.edu	37	11	86662289	86662289	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:86662289C>T	ENST00000531380.1	-	2	1814	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_Missense_Mutation_p.R80C	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	503					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTTCTGCCACGTGTGAAGAG	0.438																																																	0													114.0	114.0	114.0					11																	86662289		2201	4299	6500	SO:0001819	synonymous_variant	0			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1509G>A	11.37:g.86662289C>T			A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	NULL	p.R80C	ENST00000531380.1	37	c.238	CCDS8279.1	11	.	.	.	.	.	.	.	.	.	.	C	5.764	0.325301	0.10900	.	.	ENSG00000150687	ENST00000533902	.	.	.	6.17	-4.6	0.03390	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32903	-0.9889	4	.	.	.	.	2.9867	0.05970	0.0888:0.2516:0.2614:0.3983	.	.	.	.	C	80	.	.	R	+	1	0	PRSS23	86339937	0.000000	0.05858	0.663000	0.29738	0.988000	0.76386	-3.471000	0.00460	-1.321000	0.02281	-0.793000	0.03317	CGT	PRSS23	-	NULL	ENSG00000150687		0.438	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PRSS23	HGNC	protein_coding	OTTHUMT00000393818.2		0.00	74	0	C	NM_012193		86662289	+1			no_errors	ENST00000533902	ensembl	human	putative	74_37	missense	7.50	37	3	SNP	0.205	T
PSMC4	5704	genome.wustl.edu	37	19	40486024	40486024	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:40486024G>T	ENST00000157812.2	+	8	1087	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266Y	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAATCAGATGGATGGATTTGA	0.552																																					Colon(105;1478 1543 4034 6132 38638)												0													163.0	158.0	159.0					19																	40486024		2203	4300	6503	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.889G>T	19.37:g.40486024G>T	ENSP00000157812:p.Asp297Tyr		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.D297Y	ENST00000157812.2	37	c.889	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	g	18.31	3.596470	0.66332	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.96168	-3.93;-3.93	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99331	1.0909	10	0.87932	D	0	-21.9217	18.1147	0.89549	0.0:0.0:1.0:0.0	.	266;297	P43686-2;P43686	.;PRS6B_HUMAN	Y	297;266	ENSP00000157812:D297Y;ENSP00000413869:D266Y	ENSP00000157812:D297Y	D	+	1	0	PSMC4	45177864	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.736000	0.84948	2.882000	0.98803	0.655000	0.94253	GAT	PSMC4	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.552	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	-	0.00	60	0	G	NM_006503		40486024	+1	tier1	-	no_errors	ENST00000157812	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
PTCHD2	57540	genome.wustl.edu	37	1	11589626	11589626	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:11589626G>A	ENST00000294484.6	+	14	2950	c.2812G>A	c.(2812-2814)Gcc>Acc	p.A938T	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A938T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	938					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCTGTACTTCGCCCAGTCCCA	0.647																																																	0													56.0	62.0	60.0					1																	11589626		2023	4178	6201	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2812G>A	1.37:g.11589626G>A	ENSP00000294484:p.Ala938Thr		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.A938T	ENST00000294484.6	37	c.2812	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744683	0.69418	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.92299	-3.0;-3.01	4.92	4.92	0.64577	.	0.070383	0.56097	D	0.000035	D	0.87382	0.6163	L	0.27053	0.805	0.41956	D	0.990681	D	0.58268	0.982	P	0.44921	0.464	D	0.88668	0.3193	10	0.59425	D	0.04	-14.4108	12.2501	0.54593	0.0:0.0:0.8302:0.1698	.	938	Q9P2K9	PTHD2_HUMAN	T	938	ENSP00000294484:A938T;ENSP00000374226:A938T	ENSP00000294484:A938T	A	+	1	0	PTCHD2	11512213	1.000000	0.71417	0.890000	0.34922	0.593000	0.36681	6.982000	0.76173	2.256000	0.74724	0.561000	0.74099	GCC	PTCHD2	-	NULL	ENSG00000204624		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0.00	55	0	G	XM_052561		11589626	+1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	37.84	23	14	SNP	1.000	A
PTPLA	9200	genome.wustl.edu	37	10	17646048	17646049	+	Splice_Site	INS	-	-	A	rs76004443		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:17646048_17646049insA	ENST00000361271.3	-	2	295		c.e2-2			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ACCAACCACCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	0			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.258-2->T	10.37:g.17646059_17646059dupA			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	INS	-	e2-2	ENST00000361271.3	37	c.258-3_258-2	CCDS7121.1	10																																																																																			PTPLA	-	-	ENSG00000165996		0.297	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1		0.00	21	0	-	NM_014241	Intron	17646049	-1	tier1		no_errors	ENST00000361271	ensembl	human	known	74_37	splice_site_ins	5.88	32	2	INS	1.000:0.005	A
RAB40C	57799	genome.wustl.edu	37	16	675941	675941	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:675941C>T	ENST00000248139.3	+	5	588	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	RAB40C_ENST00000539661.1_Missense_Mutation_p.H129Y|RAB40C_ENST00000538492.1_Missense_Mutation_p.H129Y|RAB40C_ENST00000535977.1_Missense_Mutation_p.H129Y	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	129					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				AAACCGGCTGCACCTGGCCTT	0.637																																					Melanoma(123;1631 1690 28262 44104 44957)												0													38.0	41.0	40.0					16																	675941		2198	4300	6498	SO:0001583	missense	0			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.385C>T	16.37:g.675941C>T	ENSP00000248139:p.His129Tyr		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H129Y	ENST00000248139.3	37	c.385	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.227236	0.95173	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.22	5.22	0.72569	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87526	0.2449	10	0.72032	D	0.01	.	17.7582	0.88456	0.0:1.0:0.0:0.0	.	129	Q96S21	RB40C_HUMAN	Y	129	ENSP00000438492:H129Y;ENSP00000445050:H129Y;ENSP00000438382:H129Y;ENSP00000248139:H129Y	ENSP00000248139:H129Y	H	+	1	0	RAB40C	615942	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	7.725000	0.84808	2.438000	0.82558	0.561000	0.74099	CAC	RAB40C	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000197562		0.637	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4		0.00	66	0	C	NM_021168		675941	+1			no_errors	ENST00000248139	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
RAD51AP2	729475	genome.wustl.edu	37	2	17699667	17699667	+	Missense_Mutation	SNP	G	G	A	rs192386910		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:17699667G>A	ENST00000399080.2	-	1	39	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	6										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCGGCGTGGGCTGAGGGAGA	0.617																																																	0													63.0	69.0	67.0					2																	17699667		1966	4154	6120	SO:0001583	missense	0			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.16C>T	2.37:g.17699667G>A	ENSP00000382030:p.Pro6Ser			Missense_Mutation	SNP	NULL	p.P6S	ENST00000399080.2	37	c.16	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	G	3.146	-0.175259	0.06421	.	.	ENSG00000214842	ENST00000399080	T	0.29917	1.55	3.58	1.75	0.24633	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	1	P	0.42518	0.782	B	0.40534	0.332	T	0.09751	-1.0660	9	0.10636	T	0.68	4.8569	4.9962	0.14240	0.1193:0.2165:0.6642:0.0	.	6	Q09MP3	R51A2_HUMAN	S	6	ENSP00000382030:P6S	ENSP00000382030:P6S	P	-	1	0	RAD51AP2	17563148	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.704000	0.25661	0.505000	0.28104	0.591000	0.81541	CCC	RAD51AP2	-	NULL	ENSG00000214842		0.617	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3		0.00	73	0	G	NM_001099218		17699667	-1			no_errors	ENST00000399080	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A
RAD52	5893	genome.wustl.edu	37	12	1025712	1025712	+	Intron	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:1025712A>G	ENST00000358495.3	-	9	864				RAD52_ENST00000430095.2_Intron|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Intron	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)						DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTGGGAGGACACGCACGGCTG	0.697								Homologous recombination																																									0																																										SO:0001627	intron_variant	0				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.726-63T>C	12.37:g.1025712A>G			Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	RNA	SNP	-	NULL	ENST00000358495.3	37	NULL	CCDS8507.2	12																																																																																			RAD52	-	-	ENSG00000002016		0.697	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD52	HGNC	protein_coding	OTTHUMT00000206733.2	-	0.00	84	0	A	NM_134424		1025712	-1	tier1	-	no_errors	ENST00000535376	ensembl	human	known	74_37	rna	5.88	64	4	SNP	0.000	G
RADIL	55698	genome.wustl.edu	37	7	4841406	4841406	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:4841406C>A	ENST00000399583.3	-	12	2907	c.2720G>T	c.(2719-2721)aGc>aTc	p.S907I	RADIL_ENST00000538469.1_Missense_Mutation_p.S667I|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	907	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AAGTGGAGTGCTGGGAGGCGT	0.716																																																	0													8.0	11.0	10.0					7																	4841406		1878	4070	5948	SO:0001583	missense	0			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2720G>T	7.37:g.4841406C>A	ENSP00000382492:p.Ser907Ile		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S907I	ENST00000399583.3	37	c.2720	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830212	0.32329	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000538469	T;T	0.07021	3.32;3.23	5.08	2.93	0.34026	.	0.382448	0.28006	N	0.016976	T	0.08670	0.0215	L	0.44542	1.39	0.80722	D	1	B;D	0.57257	0.363;0.979	B;P	0.46110	0.11;0.504	T	0.16928	-1.0386	10	0.45353	T	0.12	-8.7894	6.0199	0.19623	0.0:0.6639:0.2003:0.1357	.	907;215	Q96JH8;Q75LH2	RADIL_HUMAN;.	I	907;878;667	ENSP00000382492:S907I;ENSP00000442966:S667I	ENSP00000320946:S878I	S	-	2	0	RADIL	4807932	1.000000	0.71417	0.959000	0.39883	0.255000	0.26057	1.028000	0.30128	1.092000	0.41356	0.563000	0.77884	AGC	RADIL	-	NULL	ENSG00000157927		0.716	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2		0.00	11	0	C	NM_018059		4841406	-1			no_errors	ENST00000399583	ensembl	human	known	74_37	missense	6.52	42	3	SNP	1.000	A
RADIL	55698	genome.wustl.edu	37	7	4917593	4917593	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:4917593A>G	ENST00000399583.3	-	2	365	c.178T>C	c.(178-180)Tcg>Ccg	p.S60P	RADIL_ENST00000536091.1_Missense_Mutation_p.S60P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	60					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCAGGGGCCGACAGCTGGGTG	0.657																																																	0													19.0	24.0	22.0					7																	4917593		1994	4153	6147	SO:0001583	missense	0			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.178T>C	7.37:g.4917593A>G	ENSP00000382492:p.Ser60Pro		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S60P	ENST00000399583.3	37	c.178	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887467	0.72410	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T	0.27256	3.08;1.68	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	M	0.63843	1.955	0.45366	D	0.998353	D	0.76494	0.999	D	0.70227	0.968	T	0.41698	-0.9494	10	0.59425	D	0.04	-16.8841	10.6124	0.45429	0.8567:0.0:0.0:0.1433	.	60	Q96JH8	RADIL_HUMAN	P	60;34;60;60	ENSP00000382492:S60P;ENSP00000442533:S60P	ENSP00000320946:S34P	S	-	1	0	RADIL	4884119	1.000000	0.71417	0.963000	0.40424	0.777000	0.43975	6.982000	0.76173	2.235000	0.73313	0.459000	0.35465	TCG	RADIL	-	NULL	ENSG00000157927		0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	-	0.00	41	0	A	NM_018059		4917593	-1	tier1	-	no_errors	ENST00000399583	ensembl	human	known	74_37	missense	55.88	30	38	SNP	0.919	G
RANBP17	64901	genome.wustl.edu	37	5	170345828	170345828	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:170345828A>G	ENST00000523189.1	+	10	1230	c.1066A>G	c.(1066-1068)Aga>Gga	p.R356G		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	356					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAAGTTATTAGATTGATTGC	0.323			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													111.0	112.0	112.0					5																	170345828		2202	4298	6500	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1066A>G	5.37:g.170345828A>G	ENSP00000427975:p.Arg356Gly		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R356G	ENST00000523189.1	37	c.1066	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	a	11.58	1.681824	0.29872	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.39406	1.08	5.74	4.59	0.56863	Armadillo-type fold (1);	0.084348	0.51477	N	0.000083	T	0.32346	0.0826	L	0.47190	1.495	0.32458	N	0.544474	B	0.02656	0.0	B	0.01281	0.0	T	0.35126	-0.9801	10	0.23891	T	0.37	-7.231	7.5625	0.27860	0.7816:0.142:0.0764:0.0	.	356	Q9H2T7	RBP17_HUMAN	G	356;252	ENSP00000427975:R356G	ENSP00000373770:R356G	R	+	1	2	RANBP17	170278433	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	1.875000	0.39578	1.017000	0.39495	0.402000	0.26972	AGA	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.323	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0.00	56	0	A	NM_022897		170345828	+1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G
RAP1A	5906	genome.wustl.edu	37	1	112233987	112233987	+	Missense_Mutation	SNP	G	G	A	rs375728545		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:112233987G>A	ENST00000369709.3	+	2	184	c.5G>A	c.(4-6)cGt>cAt	p.R2H	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000356415.1_Missense_Mutation_p.R2H|RAP1A_ENST00000545460.1_Missense_Mutation_p.R2H|RAP1A_ENST00000436150.2_Missense_Mutation_p.R2H	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	2					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CACATCATGCGTGAGTACAAG	0.363																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	131.0	118.0	122.0		5,5	4.6	1.0	1		122	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RAP1A	NM_002884.2,NM_001010935.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2/185,2/185	112233987	1,13005	2203	4300	6503	SO:0001583	missense	0			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.5G>A	1.37:g.112233987G>A	ENSP00000358723:p.Arg2His		P10113	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R2H	ENST00000369709.3	37	c.5	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846055	0.71603	0.0	1.16E-4	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.52364	1.645	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.61412	-0.7068	10	0.72032	D	0.01	.	16.6054	0.84827	0.0:0.0:1.0:0.0	.	2	P62834	RAP1A_HUMAN	H	2	ENSP00000348786:R2H;ENSP00000396741:R2H;ENSP00000358723:R2H;ENSP00000394318:R2H;ENSP00000443009:R2H	ENSP00000348786:R2H	R	+	2	0	RAP1A	112035510	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.955000	0.93058	2.258000	0.74832	0.455000	0.32223	CGT	RAP1A	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom	ENSG00000116473		0.363	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1A	HGNC	protein_coding	OTTHUMT00000033071.1	-	0.00	72	0	G	NM_002884		112233987	+1	tier1	-	no_errors	ENST00000356415	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	A
RAPGEF4	11069	genome.wustl.edu	37	2	173885435	173885435	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:173885435G>A	ENST00000397081.3	+	23	2388	c.2245G>A	c.(2245-2247)Gat>Aat	p.D749N	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.D596N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.D578N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.D605N|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.D748N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.D749N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.D529N|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.D596N	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	749					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGAGCAATTCGATTCACTGGT	0.463																																																	0													150.0	137.0	141.0					2																	173885435		1899	4123	6022	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2245G>A	2.37:g.173885435G>A	ENSP00000380271:p.Asp749Asn		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.D749N	ENST00000397081.3	37	c.2245	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673221	0.67928	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.67171	0.04;0.04;-0.25;-0.07;-0.06;0.05;0.05;-0.15	5.77	5.77	0.91146	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	M	0.69823	2.125	0.80722	D	1	B;B	0.27286	0.174;0.118	B;B	0.23852	0.046;0.049	T	0.66760	-0.5842	10	0.51188	T	0.08	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	605;749	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	N	748;749;749;605;578;596;596;529	ENSP00000264111:D748N;ENSP00000380271:D749N;ENSP00000387104:D749N;ENSP00000380276:D605N;ENSP00000440135:D578N;ENSP00000440250:D596N;ENSP00000437384:D596N;ENSP00000438011:D529N	ENSP00000264111:D748N	D	+	1	0	RAPGEF4	173593681	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.632000	0.83247	2.723000	0.93209	0.655000	0.94253	GAT	RAPGEF4	-	superfamily_Ras_GEF_dom	ENSG00000091428		0.463	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0.00	43	0	G	NM_007023		173885435	+1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	A
RARRES3	5920	genome.wustl.edu	37	11	63313709	63313709	+	Frame_Shift_Del	DEL	A	A	-	rs547099153		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:63313709delA	ENST00000255688.3	+	4	524	c.476delA	c.(475-477)caafs	p.Q159fs	RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	159					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AGGAGATACCAAAAAAAAGCG	0.537																																																	0													111.0	127.0	122.0					11																	63313709		1948	4123	6071	SO:0001589	frameshift_variant	0				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.476delA	11.37:g.63313709delA	ENSP00000255688:p.Gln159fs		B2R599|B4DDW2|E7ENZ7|O95200	Frame_Shift_Del	DEL	pfam_LRAT-like_dom	p.A162fs	ENST00000255688.3	37	c.476	CCDS41662.1	11																																																																																			RARRES3	-	NULL	ENSG00000133321		0.537	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARRES3	HGNC	protein_coding	OTTHUMT00000396629.1		0.00	46	0	A			63313709	+1	tier1		no_errors	ENST00000255688	ensembl	human	known	74_37	frame_shift_del	8.33	44	4	DEL	0.001	-
EIF2D	1939	genome.wustl.edu	37	1	206762282	206762283	+	IGR	INS	-	-	A	rs11539427		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:206762282_206762283insA	ENST00000271764.2	-	0	2094				RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D						formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTTGAGAAGGAAAAAAAAAGT	0.351																																																	0																																										SO:0001628	intergenic_variant	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619		1.37:g.206762291_206762291dupA			Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	RNA	INS	-	NULL	ENST00000271764.2	37	NULL	CCDS1465.1	1																																																																																			RASSF5	-	-	ENSG00000136653		0.351	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088475.1		0.00	44	0	-	NM_006893		206762283	+1	tier1		no_errors	ENST00000481486	ensembl	human	putative	74_37	rna	6.67	28	2	INS	0.620:0.673	A
RBM20	282996	genome.wustl.edu	37	10	112572521	112572521	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr10:112572521G>T	ENST00000369519.3	+	9	2424	c.2366G>T	c.(2365-2367)aGg>aTg	p.R789M		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	789					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						GACGAGGCCAGGCTGCGGGAA	0.622																																																	0													50.0	52.0	51.0					10																	112572521		692	1591	2283	SO:0001583	missense	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.2366G>T	10.37:g.112572521G>T	ENSP00000358532:p.Arg789Met		A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.R789M	ENST00000369519.3	37	c.2366	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775686	0.49786	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	T	0.77229	-1.08	5.68	5.68	0.88126	.	0.185870	0.33938	N	0.004420	T	0.81437	0.4822	L	0.50333	1.59	0.37881	D	0.930382	D	0.69078	0.997	D	0.64042	0.921	D	0.83814	0.0243	10	0.72032	D	0.01	-25.8757	7.4313	0.27128	0.1983:0.0:0.8017:0.0	.	789	Q5T481	RBM20_HUMAN	M	789	ENSP00000358532:R789M	ENSP00000358532:R789M	R	+	2	0	RBM20	112562511	0.996000	0.38824	1.000000	0.80357	0.533000	0.34776	3.856000	0.55964	2.677000	0.91161	0.563000	0.77884	AGG	RBM20	-	NULL	ENSG00000203867		0.622	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	-	0.00	57	0	G	NM_001134363		112572521	+1	tier1	-	no_errors	ENST00000369519	ensembl	human	known	74_37	missense	6.15	60	4	SNP	1.000	T
RFNG	5986	genome.wustl.edu	37	17	80007652	80007652	+	Silent	SNP	G	G	A	rs375305235		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:80007652G>A	ENST00000310496.4	-	6	736	c.729C>T	c.(727-729)atC>atT	p.I243I	GPS1_ENST00000320548.4_5'Flank|GPS1_ENST00000306823.6_5'Flank|RFNG_ENST00000584838.1_5'UTR|GPS1_ENST00000578552.1_5'Flank|GPS1_ENST00000355130.2_5'Flank|RFNG_ENST00000429557.3_Silent_p.I117I|GPS1_ENST00000392358.2_5'Flank	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	243					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCCCCTCCACGATGTAGCCAA	0.672																																																	0								G		1,4401		0,1,2200	21.0	26.0	24.0		729	1.7	1.0	17		24	0,8598		0,0,4299	no	coding-synonymous	RFNG	NM_002917.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		243/332	80007652	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			BC069034	CCDS32773.1	17q25.3	2013-02-19	2006-11-13		ENSG00000169733	ENSG00000169733	2.4.1.222	"""Beta 3-glycosyltransferases"""	9974	protein-coding gene	gene with protein product		602578	"""radical fringe (Drosophila) homolog"", ""radical fringe homolog (Drosophila)"""			9187150	Standard	NM_002917		Approved		uc002kdj.3	Q9Y644	OTTHUMG00000178512	ENST00000310496.4:c.729C>T	17.37:g.80007652G>A			O00588	Silent	SNP	pfam_Fringe-like,pirsf_Fringe	p.I243	ENST00000310496.4	37	c.729	CCDS32773.1	17																																																																																			RFNG	-	pfam_Fringe-like,pirsf_Fringe	ENSG00000169733		0.672	RFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFNG	HGNC	protein_coding	OTTHUMT00000442263.1		0.00	20	0	G	NM_002917		80007652	-1			no_errors	ENST00000310496	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	A
RFXAP	5994	genome.wustl.edu	37	13	37393677	37393678	+	Frame_Shift_Ins	INS	-	-	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:37393677_37393678insG	ENST00000255476.2	+	1	317_318	c.183_184insG	c.(184-186)gggfs	p.G62fs		NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	62					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		CTGCGGCCCCCGGGGGCAGCGT	0.703																																																	0																																										SO:0001589	frameshift_variant	0			Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.188dupG	13.37:g.37393682_37393682dupG	ENSP00000255476:p.Gly62fs		B2R9T8|Q5VZM6|Q8TC40	Frame_Shift_Ins	INS	NULL	p.S63fs	ENST00000255476.2	37	c.183_184	CCDS9359.1	13																																																																																			RFXAP	-	NULL	ENSG00000133111		0.703	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFXAP	HGNC	protein_coding	OTTHUMT00000044521.1		0.00	40	0	-	NM_000538		37393678	+1	tier1		no_errors	ENST00000255476	ensembl	human	known	74_37	frame_shift_ins	23.33	23	7	INS	0.000:0.010	G
RNF170	81790	genome.wustl.edu	37	8	42720613	42720613	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:42720613G>A	ENST00000534961.1	-	5	818	c.342C>T	c.(340-342)taC>taT	p.Y114Y	RNF170_ENST00000319073.4_Intron|RNF170_ENST00000319104.3_Silent_p.Y114Y|RNF170_ENST00000527424.1_Silent_p.Y114Y|RNF170_ENST00000526349.1_Silent_p.Y30Y	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	114					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CATATCGCCAGTAAGCAATAA	0.353																																																	0													131.0	124.0	126.0					8																	42720613		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.342C>T	8.37:g.42720613G>A			D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Silent	SNP	pfam_DUF1232,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Y114	ENST00000534961.1	37	c.342	CCDS6138.1	8																																																																																			RNF170	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000120925		0.353	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF170	HGNC	protein_coding	OTTHUMT00000383166.1		0.00	19	0	G	NM_030954		42720613	-1			no_errors	ENST00000527424	ensembl	human	known	74_37	silent	12.50	14	2	SNP	1.000	A
RORB	6096	genome.wustl.edu	37	9	77257546	77257546	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:77257546A>G	ENST00000396204.2	+	4	485	c.485A>G	c.(484-486)aAg>aGg	p.K162R	RORB_ENST00000376896.3_Missense_Mutation_p.K151R			Q92753	RORB_HUMAN	RAR-related orphan receptor B	162	Hinge. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GACCTGCCCAAGTCTGAGGGT	0.517																																																	0													112.0	92.0	99.0					9																	77257546		2203	4300	6503	SO:0001583	missense	0			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.485A>G	9.37:g.77257546A>G	ENSP00000379507:p.Lys162Arg		Q8WX73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt	p.K162R	ENST00000396204.2	37	c.485		9	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621298	0.66787	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.93811	-3.29;-3.29	5.95	5.95	0.96441	.	0.545328	0.22031	N	0.065594	D	0.94328	0.8177	M	0.74258	2.255	0.80722	D	1	P;B	0.51449	0.945;0.016	P;B	0.50082	0.63;0.009	D	0.92806	0.6260	10	0.20519	T	0.43	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	162;151	Q92753;Q58EY0	RORB_HUMAN;.	R	151;162	ENSP00000366093:K151R;ENSP00000379507:K162R	ENSP00000366093:K151R	K	+	2	0	RORB	76447366	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.907000	0.75724	2.279000	0.76181	0.533000	0.62120	AAG	RORB	-	NULL	ENSG00000198963		0.517	RORB-201	KNOWN	basic	protein_coding	RORB	HGNC	protein_coding		-	0.00	49	0	A			77257546	+1	tier1	-	no_errors	ENST00000396204	ensembl	human	known	74_37	missense	92.86	2	26	SNP	1.000	G
RPS6KA5	9252	genome.wustl.edu	37	14	91386650	91386650	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:91386650C>T	ENST00000261991.3	-	7	879	c.706G>A	c.(706-708)Gtt>Att	p.V236I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V157I|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.V236I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	236	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CACCAGTCAACTGCCTATAAA	0.289																																																	0													83.0	89.0	87.0					14																	91386650		2203	4299	6502	SO:0001583	missense	0			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.706G>A	14.37:g.91386650C>T	ENSP00000261991:p.Val236Ile		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.V236I	ENST00000261991.3	37	c.706	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870202	0.91587	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.26660	1.72;1.72;1.72	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	N	0.25992	0.78	0.80722	D	1	P;D	0.76494	0.805;0.999	P;D	0.66497	0.455;0.944	T	0.30679	-0.9970	10	0.72032	D	0.01	.	18.9634	0.92685	0.0:1.0:0.0:0.0	.	236;236	O75582-2;O75582	.;KS6A5_HUMAN	I	236;157;236	ENSP00000261991:V236I;ENSP00000442803:V157I;ENSP00000402787:V236I	ENSP00000261991:V236I	V	-	1	0	RPS6KA5	90456403	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.096000	0.76960	2.469000	0.83416	0.650000	0.86243	GTT	RPS6KA5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000100784		0.289	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2		0.00	30	0	C	NM_004755		91386650	-1			no_errors	ENST00000261991	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
RPS8	6202	genome.wustl.edu	37	1	45242355	45242355	+	Silent	SNP	C	C	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:45242355C>G	ENST00000396651.3	+	3	280	c.120C>G	c.(118-120)ccC>ccG	p.P40P	SNORD46_ENST00000364043.1_RNA|RPS8_ENST00000372209.3_Silent_p.P40P|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000485390.1_3'UTR|SNORD38A_ENST00000365161.1_RNA|SNORD55_ENST00000581525.1_RNA|SNORD38B_ENST00000384690.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	40					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGATTGGCCCCCGCCGCATCC	0.572																																																	0													51.0	45.0	47.0					1																	45242355		2203	4300	6503	SO:0001819	synonymous_variant	0			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.120C>G	1.37:g.45242355C>G			P09058|Q6IRL7	Silent	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e	p.P40	ENST00000396651.3	37	c.120	CCDS513.1	1																																																																																			RPS8	-	pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e	ENSG00000142937		0.572	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS8	HGNC	protein_coding	OTTHUMT00000023439.1		0.00	65	0	C	NM_001012		45242355	+1			no_errors	ENST00000396651	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.995	G
RS1	6247	genome.wustl.edu	37	X	18662688	18662690	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:18662688_18662690delCTT	ENST00000379984.3	-	5	422_424	c.382_384delAAG	c.(382-384)aagdel	p.K128del	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	128	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CTTTGATCTCCTTCAGATCTATC	0.552																																																	0																																										SO:0001651	inframe_deletion	0			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.382_384delAAG	X.37:g.18662688_18662690delCTT	ENSP00000369320:p.Lys128del		Q0QD39	In_Frame_Del	DEL	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.K128in_frame_del	ENST00000379984.3	37	c.384_382	CCDS14187.1	X																																																																																			RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000102104		0.552	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1		0.00	23	0	CTT			18662690	-1	tier1		no_errors	ENST00000379984	ensembl	human	known	74_37	in_frame_del	50.00	19	19	DEL	1.000:1.000:1.000	-
RSRC2	65117	genome.wustl.edu	37	12	122992874	122992874	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr12:122992874T>A	ENST00000331738.7	-	8	1071	c.926A>T	c.(925-927)gAg>gTg	p.E309V	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.E261V	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	309							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TATTCCTGTCTCTGCCAAAGC	0.468																																																	0													92.0	90.0	91.0					12																	122992874		2203	4300	6503	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.926A>T	12.37:g.122992874T>A	ENSP00000330188:p.Glu309Val		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.E309V	ENST00000331738.7	37	c.926	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	T	28.2	4.895692	0.91962	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773	T;T	0.49139	1.3;0.79	5.15	5.15	0.70609	.	0.044427	0.85682	D	0.000000	T	0.58595	0.2133	L	0.39633	1.23	0.80722	D	1	D;D;D;D	0.71674	0.989;0.998;0.998;0.968	D;D;D;P	0.72625	0.978;0.917;0.917;0.895	T	0.55003	-0.8208	10	0.30854	T	0.27	.	15.2826	0.73797	0.0:0.0:0.0:1.0	.	310;261;309;78	F5GXM2;Q7L4I2-2;Q7L4I2;B3KMH4	.;.;RSRC2_HUMAN;.	V	309;261;310	ENSP00000330188:E309V;ENSP00000346678:E261V	ENSP00000330188:E309V	E	-	2	0	RSRC2	121558827	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.693000	0.84214	2.059000	0.61396	0.533000	0.62120	GAG	RSRC2	-	NULL	ENSG00000111011		0.468	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	-	0.00	38	0	T	NM_023012		122992874	-1	tier1	-	no_errors	ENST00000331738	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A
RXFP3	51289	genome.wustl.edu	37	5	33937727	33937727	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:33937727C>T	ENST00000330120.3	+	1	1237	c.882C>T	c.(880-882)atC>atT	p.I294I		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	294					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGCGCTTCATCGCCGACCGCC	0.667																																																	0													32.0	24.0	27.0					5																	33937727		2189	4274	6463	SO:0001819	synonymous_variant	0			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.882C>T	5.37:g.33937727C>T			Q14DA5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.I294	ENST00000330120.3	37	c.882	CCDS3900.1	5																																																																																			RXFP3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182631		0.667	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	-	0.00	21	0	C	NM_016568		33937727	+1	tier1	-	no_errors	ENST00000330120	ensembl	human	known	74_37	silent	100.00	0	25	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	33952417	33952417	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:33952417C>T	ENST00000389232.4	+	34	4485	c.4415C>T	c.(4414-4416)gCg>gTg	p.A1472V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1472V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1472	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCCTGTCAGCGGCCATATTC	0.562																																																	0													36.0	38.0	37.0					15																	33952417		2062	4124	6186	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4415C>T	15.37:g.33952417C>T	ENSP00000373884:p.Ala1472Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A1472V	ENST00000389232.4	37	c.4415	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586565	0.66105	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97352	-4.35;-4.35	4.84	4.84	0.62591	.	0.072060	0.56097	D	0.000021	D	0.97586	0.9209	M	0.82323	2.585	0.53005	D	0.999968	P;P	0.52061	0.623;0.95	B;P	0.49477	0.185;0.612	D	0.98581	1.0650	10	0.87932	D	0	.	18.1471	0.89661	0.0:1.0:0.0:0.0	.	1472;1472	Q15413-2;Q15413	.;RYR3_HUMAN	V	1472	ENSP00000373884:A1472V;ENSP00000399610:A1472V	ENSP00000354735:A1472V	A	+	2	0	RYR3	31739709	1.000000	0.71417	0.458000	0.27068	0.646000	0.38490	7.609000	0.82925	2.515000	0.84797	0.655000	0.94253	GCG	RYR3	-	NULL	ENSG00000198838		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	46	0	C			33952417	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	59.46	15	22	SNP	0.997	T
S1PR1	1901	genome.wustl.edu	37	1	101704505	101704505	+	5'UTR	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:101704505G>A	ENST00000305352.6	+	0	340				S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1						actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CTGGAGTAGCGCCACCCCGGC	0.612											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11.0	12.0	11.0					1																	101704505		2192	4297	6489	SO:0001623	5_prime_UTR_variant	0			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.-36G>A	1.37:g.101704505G>A		1360	D3DT66|Q9BYY4|Q9NYN8	RNA	SNP	-	NULL	ENST00000305352.6	37	NULL	CCDS777.1	1																																																																																			S1PR1	-	-	ENSG00000170989		0.612	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	-	0.00	18	0	G	NM_001400		101704505	+1	tier1	-	no_errors	ENST00000475289	ensembl	human	known	74_37	rna	50.00	3	3	SNP	0.000	A
SCN11A	11280	genome.wustl.edu	37	3	38888452	38888452	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:38888452C>A	ENST00000302328.3	-	26	5307	c.5109G>T	c.(5107-5109)atG>atT	p.M1703I	SCN11A_ENST00000450244.1_Missense_Mutation_p.M1703I|SCN11A_ENST00000456224.3_Missense_Mutation_p.M1665I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1703					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATTGCTTTCATACTATCTA	0.483																																																	0													164.0	160.0	161.0					3																	38888452		2203	4300	6503	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.5109G>T	3.37:g.38888452C>A	ENSP00000307599:p.Met1703Ile		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.M1703I	ENST00000302328.3	37	c.5109	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463787	0.26335	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.95821	-3.82;-3.82;-3.76	5.46	3.52	0.40303	.	266.135000	0.00496	N	0.000154	D	0.90693	0.7080	N	0.26092	0.79	0.30564	N	0.764161	B	0.30406	0.278	B	0.21360	0.034	D	0.83615	0.0136	10	0.41790	T	0.15	.	5.0824	0.14663	0.1904:0.61:0.1151:0.0845	.	1703	Q9UI33	SCNBA_HUMAN	I	1703;1703;1665	ENSP00000307599:M1703I;ENSP00000400945:M1703I;ENSP00000416757:M1665I	ENSP00000307599:M1703I	M	-	3	0	SCN11A	38863456	0.001000	0.12720	1.000000	0.80357	0.742000	0.42306	-0.114000	0.10757	2.544000	0.85801	0.650000	0.86243	ATG	SCN11A	-	NULL	ENSG00000168356		0.483	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0.00	47	0	C	NM_014139		38888452	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.584	A
SCN7A	6332	genome.wustl.edu	37	2	167334126	167334126	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:167334126T>A	ENST00000409855.1	-	2	207	c.81A>T	c.(79-81)aaA>aaT	p.K27N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	27					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CATTATGTGTTTTAGCAATAT	0.368																																																	0													65.0	60.0	61.0					2																	167334126		1820	4076	5896	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.81A>T	2.37:g.167334126T>A	ENSP00000386796:p.Lys27Asn			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.K27N	ENST00000409855.1	37	c.81	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066807	0.36470	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98313	-4.22;-4.24;-4.86	4.63	0.746	0.18365	.	0.210688	0.33309	N	0.005045	D	0.97688	0.9242	M	0.64404	1.975	0.19575	N	0.999969	D	0.76494	0.999	D	0.78314	0.991	D	0.92135	0.5715	10	0.87932	D	0	.	1.5338	0.02541	0.1394:0.1726:0.1433:0.5447	.	27	Q01118	SCN7A_HUMAN	N	27	ENSP00000386796:K27N;ENSP00000413699:K27N;ENSP00000403846:K27N	ENSP00000259060:K27N	K	-	3	2	SCN7A	167042372	0.583000	0.26757	0.865000	0.33974	0.230000	0.25150	0.081000	0.14823	0.386000	0.24997	-0.250000	0.11733	AAA	SCN7A	-	NULL	ENSG00000136546		0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0.00	43	0	T			167334126	-1			no_errors	ENST00000409855	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.103	A
SCRT2	85508	genome.wustl.edu	37	20	656119	656119	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:656119delC	ENST00000246104.6	-	1	704	c.127delG	c.(127-129)gacfs	p.D43fs	RP5-850E9.3_ENST00000488788.2_Frame_Shift_Del_p.D43fs	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	43					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						TCACCGTTGTCCCCGGGAGGC	0.741																																																	0													4.0	6.0	6.0					20																	656119		2072	4103	6175	SO:0001589	frameshift_variant	0				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"""Zinc fingers, C2H2-type"""	15952	protein-coding gene	gene with protein product			"""scratch (drosophila homolog) 2, zinc finger protein"", ""scratch homolog 2, zinc finger protein (Drosophila)"""			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.127delG	20.37:g.656119delC	ENSP00000246104:p.Asp43fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D43fs	ENST00000246104.6	37	c.127	CCDS13006.1	20																																																																																			SCRT2	-	NULL	ENSG00000215397		0.741	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT2	HGNC	protein_coding	OTTHUMT00000253383.2		0.00	17	0	C	NM_033129		656119	-1	tier1		no_errors	ENST00000246104	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-
SEC24B	10427	genome.wustl.edu	37	4	110448579	110448579	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:110448579G>A	ENST00000265175.5	+	18	3122	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T	SEC24B_ENST00000504968.2_Missense_Mutation_p.A1053T|SEC24B_ENST00000399100.2_Missense_Mutation_p.A988T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1023					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGCCTTCTGGCAAACATGGG	0.438																																																	0													115.0	107.0	110.0					4																	110448579		1891	4116	6007	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3067G>A	4.37:g.110448579G>A	ENSP00000265175:p.Ala1023Thr		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.A1023T	ENST00000265175.5	37	c.3067	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.303767	0.95601	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.92099	-2.97;-2.97;-2.97	5.4	5.4	0.78164	Sec23/Sec24, helical domain (2);	0.102804	0.64402	D	0.000003	D	0.95121	0.8419	L	0.57130	1.785	0.80722	D	1	P;D;D;D;D	0.64830	0.921;0.994;0.994;0.993;0.994	P;P;D;P;D	0.65443	0.731;0.833;0.935;0.892;0.935	D	0.95247	0.8356	10	0.87932	D	0	-22.627	19.5642	0.95386	0.0:0.0:1.0:0.0	.	937;622;1053;988;1023	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	T	1053;988;1023	ENSP00000428564:A1053T;ENSP00000382051:A988T;ENSP00000265175:A1023T	ENSP00000265175:A1023T	A	+	1	0	SEC24B	110668028	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.717000	0.92951	0.655000	0.94253	GCA	SEC24B	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom	ENSG00000138802		0.438	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0.00	48	0	G			110448579	+1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
SEMA4D	10507	genome.wustl.edu	37	9	91991861	91991861	+	3'UTR	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:91991861G>A	ENST00000450295.1	-	0	5123				SEMA4D_ENST00000343780.4_Missense_Mutation_p.S590L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S590L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S590L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S590L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCCCGCACCCGAGGCTGGCCA	0.667																																																	0													12.0	16.0	15.0					9																	91991861		689	1588	2277	SO:0001624	3_prime_UTR_variant	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.*1758C>T	9.37:g.91991861G>A			B2RPM6|Q7Z5S4|Q8N8B0	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.S590L	ENST00000450295.1	37	c.1769	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	8.225	0.803328	0.16397	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.47	0.0803	0.14420	.	.	.	.	.	T	0.17109	0.0411	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.23691	-1.0181	8	0.48119	T	0.1	.	7.7284	0.28773	0.6883:0.0:0.3117:0.0	.	590	Q92854-2	.	L	590	ENSP00000344923:S590L;ENSP00000391733:S590L;ENSP00000411981:S590L;ENSP00000343418:S590L	ENSP00000344923:S590L	S	-	2	0	SEMA4D	91181681	0.716000	0.27956	0.007000	0.13788	0.041000	0.13682	1.022000	0.30052	0.135000	0.18707	0.555000	0.69702	TCG	SEMA4D	-	NULL	ENSG00000187764		0.667	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	-	0.00	65	0	G	NM_006378		91991861	-1	tier1	-	no_errors	ENST00000343780	ensembl	human	known	74_37	missense	90.32	6	56	SNP	0.000	A
SGK1	6446	genome.wustl.edu	37	6	134493863	134493863	+	Missense_Mutation	SNP	C	C	G	rs368296582		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:134493863C>G	ENST00000237305.7	-	7	687	c.599G>C	c.(598-600)cGt>cCt	p.R200P	SGK1_ENST00000475719.2_Missense_Mutation_p.R156P|SGK1_ENST00000528577.1_Missense_Mutation_p.R228P|SGK1_ENST00000367857.5_Missense_Mutation_p.R190P|SGK1_ENST00000413996.3_Missense_Mutation_p.R214P|SGK1_ENST00000367858.5_Missense_Mutation_p.R295P|SGK1_ENST00000489458.2_5'UTR	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AGCATAGAAACGAGCCCGTGG	0.468																																																	0													75.0	66.0	69.0					6																	134493863		2203	4300	6503	SO:0001583	missense	0			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.599G>C	6.37:g.134493863C>G	ENSP00000237305:p.Arg200Pro		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.R295P	ENST00000237305.7	37	c.884	CCDS5170.1	6	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014368	0.93404	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.27256	2.99;2.99;2.99;2.99;2.99;1.68	6.03	5.16	0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045168	0.85682	D	0.000000	T	0.46347	0.1388	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.99;1.0;0.992;0.982;0.996;0.997	T	0.56884	-0.7905	10	0.87932	D	0	.	15.1765	0.72916	0.0:0.9327:0.0:0.0673	.	228;214;156;190;295;200	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	P	295;214;200;190;228;156	ENSP00000356832:R295P;ENSP00000396242:R214P;ENSP00000237305:R200P;ENSP00000356831:R190P;ENSP00000434450:R228P;ENSP00000434302:R156P	ENSP00000237305:R200P	R	-	2	0	SGK1	134535556	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.818000	0.86416	1.547000	0.49401	0.655000	0.94253	CGT	SGK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000118515		0.468	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	-	0.00	37	0	C			134493863	-1	tier1	-	no_errors	ENST00000367858	ensembl	human	known	74_37	missense	57.89	16	22	SNP	1.000	G
SHANK3	85358	genome.wustl.edu	37	22	51135698	51135698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr22:51135698delG	ENST00000262795.3	+	11	1332	c.1332delG	c.(1330-1332)gtgfs	p.V444fs	SHANK3_ENST00000414786.2_Intron|SHANK3_ENST00000445220.2_Intron	NM_033517.1	NP_277052.1	Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	435					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGGAGGGGTGGGGGGGGCGC	0.751																																																	0										30,25,2219		9,0,12,5,15,1096	2.0	3.0	3.0			-5.0	0.0	22		3	86,68,5176		18,1,49,10,47,2540	no	codingComplex	SHANK3	NM_001080420.1		27,1,61,15,62,3636	A1A1,A1A2,A1R,A2A2,A2R,RR		2.8893,2.4186,2.7486			51135698	116,93,7395	1375	3209	4584	SO:0001589	frameshift_variant	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000262795.3:c.1332delG	22.37:g.51135698delG	ENSP00000442518:p.Val444fs		D7UT47|Q8TET3	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A447fs	ENST00000262795.3	37	c.1332		22																																																																																			SHANK3	-	NULL	ENSG00000251322		0.751	SHANK3-201	KNOWN	basic|appris_candidate_longest	protein_coding	SHANK3	HGNC	protein_coding			0.00	20	0	G	NM_001080420		51135698	+1	tier1		no_errors	ENST00000262795	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	0.002	-
SLC25A26	115286	genome.wustl.edu	37	3	66313792	66313792	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:66313792G>T	ENST00000413054.1	+	3	252	c.178G>T	c.(178-180)Gtt>Ttt	p.V60F	SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000336733.6_Missense_Mutation_p.V60F|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000354883.6_Missense_Mutation_p.V148F			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	148					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TAAAAGCACAGTTTTAAGAGA	0.348																																																	0													113.0	112.0	112.0					3																	66313792		2203	4300	6503	SO:0001583	missense	0			AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"""Solute carriers"""	20661	protein-coding gene	gene with protein product		611037	"""solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"""			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.178G>T	3.37:g.66313792G>T	ENSP00000415304:p.Val60Phe		A8K758|B3KRZ7|Q7Z786|Q96E68	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.V148F	ENST00000413054.1	37	c.442		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.910654|4.910654	0.92107|0.92107	.|.	.|.	ENSG00000144741|ENSG00000144741	ENST00000413054|ENST00000354883;ENST00000336733	.|T;T	.|0.80653	.|-1.4;-1.4	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Mitochondrial carrier domain (2);	.|0.118373	.|0.56097	.|D	.|0.000028	D|D	0.88837|0.88837	0.6545|0.6545	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.993	.|D;D	.|0.74348	.|0.981;0.983	D|D	0.89249|0.89249	0.3589|0.3589	5|10	.|0.72032	.|D	.|0.01	-22.5985|-22.5985	19.4905|19.4905	0.95048|0.95048	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|148;148	.|F8WAB8;Q70HW3	.|.;SAMC_HUMAN	H|F	84|148;60	.|ENSP00000346955:V148F;ENSP00000336801:V60F	.|ENSP00000336801:V60F	Q|V	+|+	3|1	2|0	SLC25A26|SLC25A26	66396482|66396482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.912000|6.912000	0.75753|0.75753	2.601000|2.601000	0.87937|0.87937	0.585000|0.585000	0.79938|0.79938	CAG|GTT	SLC25A26	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000144741		0.348	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	SLC25A26	HGNC	protein_coding	OTTHUMT00000313895.2	-	0.00	49	0	G	NM_173471		66313792	+1	tier1	-	no_errors	ENST00000354883	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
SLC2A9	56606	genome.wustl.edu	37	4	10027509	10027510	+	Intron	INS	-	-	A	rs61256984	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:10027509_10027510insA	ENST00000506583.1	-	3	281				SLC2A9_ENST00000309065.3_Intron			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9						glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AAGGGAGACAGAAAAAAAAAAG	0.455																																																	0																																										SO:0001627	intron_variant	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.63+17->T	4.37:g.10027519_10027519dupA			Q0VGC4|Q4W5D1|Q8WV30|Q96P00	RNA	INS	-	NULL	ENST00000506583.1	37	NULL	CCDS3406.1	4																																																																																			SLC2A9	-	-	ENSG00000109667		0.455	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207054.2		0.00	30	0	-			10027510	-1	tier1		no_errors	ENST00000509214	ensembl	human	known	74_37	rna	13.51	32	5	INS	0.000:0.000	A
SLC39A10	57181	genome.wustl.edu	37	2	196573445	196573445	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:196573445A>C	ENST00000409086.3	+	5	1727	c.1452A>C	c.(1450-1452)gaA>gaC	p.E484D	SLC39A10_ENST00000359634.5_Missense_Mutation_p.E484D|SLC39A10_ENST00000541054.1_Missense_Mutation_p.E34D	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	484					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATGGACATGAATCTAACAAGT	0.358																																																	0													123.0	112.0	116.0					2																	196573445		2203	4300	6503	SO:0001583	missense	0				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1452A>C	2.37:g.196573445A>C	ENSP00000386766:p.Glu484Asp		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	pfam_ZIP	p.E484D	ENST00000409086.3	37	c.1452	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565814	0.27915	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.70516	-0.2;-0.2;-0.49	5.17	0.165	0.14995	.	0.377530	0.27126	N	0.020810	T	0.55081	0.1898	L	0.37897	1.145	0.09310	N	1	P	0.34837	0.472	B	0.36959	0.237	T	0.45948	-0.9226	10	0.13470	T	0.59	.	9.671	0.40013	0.6465:0.0:0.3535:0.0	.	484	Q9ULF5	S39AA_HUMAN	D	484;484;34	ENSP00000386766:E484D;ENSP00000352655:E484D;ENSP00000437787:E34D	ENSP00000352655:E484D	E	+	3	2	SLC39A10	196281690	0.000000	0.05858	0.045000	0.18777	0.871000	0.50021	-0.233000	0.09041	-0.104000	0.12154	-0.256000	0.11100	GAA	SLC39A10	-	pfam_ZIP	ENSG00000196950		0.358	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	-	0.00	42	0	A	XM_047707		196573445	+1	tier1	-	no_errors	ENST00000359634	ensembl	human	known	74_37	missense	87.23	6	41	SNP	0.003	C
SLC4A4	8671	genome.wustl.edu	37	4	72222742	72222742	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:72222742C>A	ENST00000264485.5	+	6	685	c.568C>A	c.(568-570)Cag>Aag	p.Q190K	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.Q146K|SLC4A4_ENST00000340595.3_Missense_Mutation_p.Q146K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.Q190K|SLC4A4_ENST00000425175.1_Missense_Mutation_p.Q190K	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	190					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGTTGACCATCAGATTGAGAC	0.393																																																	0													114.0	117.0	116.0					4																	72222742		2203	4300	6503	SO:0001583	missense	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.568C>A	4.37:g.72222742C>A	ENSP00000264485:p.Gln190Lys		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.Q190K	ENST00000264485.5	37	c.568	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485907	0.84854	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.77	5.77	0.91146	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.049440	0.85682	D	0.000000	D	0.84170	0.5413	M	0.86343	2.81	0.80722	D	1	P;D;D;P;P;P	0.67145	0.868;0.996;0.963;0.915;0.755;0.863	P;D;P;P;P;P	0.67900	0.794;0.954;0.836;0.574;0.689;0.845	D	0.84034	0.0361	10	0.42905	T	0.14	.	19.9854	0.97342	0.0:1.0:0.0:0.0	.	190;190;146;146;170;190	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	K	190;190;190;146;146	ENSP00000264485:Q190K;ENSP00000393557:Q190K;ENSP00000307349:Q190K;ENSP00000422400:Q146K;ENSP00000344272:Q146K	ENSP00000264485:Q190K	Q	+	1	0	SLC4A4	72441606	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.716000	0.92895	0.655000	0.94253	CAG	SLC4A4	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.393	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1		0.00	52	0	C	NM_003759		72222742	+1			no_errors	ENST00000425175	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A
SLC8A2	6543	genome.wustl.edu	37	19	47969480	47969480	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:47969480C>T	ENST00000236877.6	-	2	576	c.181G>A	c.(181-183)Gac>Aac	p.D61N	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	61					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GACGGGTCGTCGGGCTCCCAC	0.667																																																	0													32.0	27.0	29.0					19																	47969480		2203	4300	6503	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.181G>A	19.37:g.47969480C>T	ENSP00000236877:p.Asp61Asn		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.D61N	ENST00000236877.6	37	c.181	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098251	0.56183	.	.	ENSG00000118160	ENST00000236877	T	0.32753	1.44	4.25	4.25	0.50352	.	0.615065	0.16385	N	0.216709	T	0.19248	0.0462	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.04013	0.001	T	0.04737	-1.0930	10	0.48119	T	0.1	.	11.6091	0.51049	0.0:0.8193:0.1807:0.0	.	61	Q9UPR5	NAC2_HUMAN	N	61	ENSP00000236877:D61N	ENSP00000236877:D61N	D	-	1	0	SLC8A2	52661292	0.000000	0.05858	0.997000	0.53966	0.940000	0.58332	-0.184000	0.09698	2.210000	0.71456	0.462000	0.41574	GAC	SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.667	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	-	0.00	22	0	C			47969480	-1	tier1	-	no_errors	ENST00000236877	ensembl	human	known	74_37	missense	80.00	3	12	SNP	0.843	T
SLFN12	55106	genome.wustl.edu	37	17	33749083	33749083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:33749083C>T	ENST00000394562.1	-	4	1488	c.965G>A	c.(964-966)tGg>tAg	p.W322*	SLFN12_ENST00000304905.5_Nonsense_Mutation_p.W322*|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000452764.3_Nonsense_Mutation_p.W322*			Q8IYM2	SLN12_HUMAN	schlafen family member 12	322							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTCACATGCCAGGAATCAGG	0.488																																																	0													95.0	89.0	91.0					17																	33749083		2203	4300	6503	SO:0001587	stop_gained	0			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.965G>A	17.37:g.33749083C>T	ENSP00000378063:p.Trp322*		A8K711|Q9NP47	Nonsense_Mutation	SNP	pfam_ATPase_AAA-4	p.W322*	ENST00000394562.1	37	c.965	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.694051	0.96793	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	.	.	.	3.49	0.191	0.15130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0942	0.06303	0.2091:0.5497:0.0:0.2412	.	.	.	.	X	322	.	ENSP00000302077:W322X	W	-	2	0	SLFN12	30773196	1.000000	0.71417	0.007000	0.13788	0.311000	0.27955	1.848000	0.39309	-0.018000	0.14079	0.436000	0.28706	TGG	SLFN12	-	pfam_ATPase_AAA-4	ENSG00000172123		0.488	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	-	0.00	45	0	C	NM_018042		33749083	-1	tier1	-	no_errors	ENST00000304905	ensembl	human	known	74_37	nonsense	67.65	22	46	SNP	0.046	T
SMAD4	4089	genome.wustl.edu	37	18	48591854	48591854	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr18:48591854T>A	ENST00000342988.3	+	9	1555	c.1017T>A	c.(1015-1017)ttT>ttA	p.F339L	SMAD4_ENST00000588745.1_Missense_Mutation_p.F243L|SMAD4_ENST00000398417.2_Missense_Mutation_p.F339L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	339	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.F339_S343del(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAGAGACATTTAAGGTTCCTT	0.438																																																	40	Whole gene deletion(36)|Deletion - In frame(2)|Unknown(2)	pancreas(26)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											267.0	229.0	242.0					18																	48591854		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1017T>A	18.37:g.48591854T>A	ENSP00000341551:p.Phe339Leu		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.F339L	ENST00000342988.3	37	c.1017	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389544	0.82902	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97553	-4.43;-4.43	5.86	4.69	0.59074	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.045571	0.85682	N	0.000000	D	0.98229	0.9414	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98183	1.0458	10	0.87932	D	0	.	8.3831	0.32483	0.0:0.1659:0.0:0.8341	.	339	Q13485	SMAD4_HUMAN	L	339	ENSP00000341551:F339L;ENSP00000381452:F339L	ENSP00000341551:F339L	F	+	3	2	SMAD4	46845852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.552000	0.23376	1.020000	0.39573	0.460000	0.39030	TTT	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0.00	68	0	T	NM_005359		48591854	+1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	80.00	5	20	SNP	1.000	A
SMAD4	4089	genome.wustl.edu	37	18	48604654	48604656	+	In_Frame_Del	DEL	TGA	TGA	-	rs377767368|rs121912578		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr18:48604654_48604656delTGA	ENST00000342988.3	+	12	2014_2016	c.1476_1478delTGA	c.(1474-1479)gttgat>gtt	p.D494del	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_In_Frame_Del_p.D398del|SMAD4_ENST00000398417.2_In_Frame_Del_p.D494del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	494	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.D493N(2)|p.D493A(1)|p.D493H(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAATTGGTGTTGATGACCTTCGT	0.458																																																	42	Whole gene deletion(36)|Substitution - Missense(4)|Unknown(2)	pancreas(28)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)																																								SO:0001651	inframe_deletion	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1476_1478delTGA	18.37:g.48604657_48604659delTGA	ENSP00000341551:p.Asp494del		A8K405	In_Frame_Del	DEL	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.D494in_frame_del	ENST00000342988.3	37	c.1476_1478	CCDS11950.1	18																																																																																			SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0.00	58	0	TGA	NM_005359		48604656	+1	tier1		no_errors	ENST00000342988	ensembl	human	known	74_37	in_frame_del	73.91	6	17	DEL	0.988:1.000:1.000	-
SNRNP200	23020	genome.wustl.edu	37	2	96947598	96947598	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:96947598G>A	ENST00000323853.5	-	35	5055	c.4978C>T	c.(4978-4980)Ctg>Ttg	p.L1660L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1660	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATGATTACCAGGTGGGCAGCC	0.552																																																	0													103.0	92.0	96.0					2																	96947598		2203	4300	6503	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4978C>T	2.37:g.96947598G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1660	ENST00000323853.5	37	c.4978	CCDS2020.1	2																																																																																			SNRNP200	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000144028		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	-	0.00	43	0	G	NM_014014		96947598	-1	tier1	-	no_errors	ENST00000323853	ensembl	human	known	74_37	silent	25.45	41	14	SNP	1.000	A
SNX11	29916	genome.wustl.edu	37	17	46190696	46190696	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:46190696T>C	ENST00000393405.2	+	5	517	c.163T>C	c.(163-165)Tgt>Cgt	p.C55R	SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000439357.2_Intron|SNX11_ENST00000359238.2_Missense_Mutation_p.C55R|SNX11_ENST00000582104.1_Missense_Mutation_p.C47R|SNX11_ENST00000580219.1_Missense_Mutation_p.C47R|SNX11_ENST00000452859.2_5'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	55	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CAAGACTTCCTGTGTGCGGCG	0.473																																																	0													192.0	186.0	188.0					17																	46190696		2203	4300	6503	SO:0001583	missense	0			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.163T>C	17.37:g.46190696T>C	ENSP00000377059:p.Cys55Arg		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.C55R	ENST00000393405.2	37	c.163	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137384	0.77775	.	.	ENSG00000002919	ENST00000393405;ENST00000359238	T;T	0.38077	1.16;1.16	5.38	5.38	0.77491	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51647	-0.8679	10	0.56958	D	0.05	-0.7331	14.3782	0.66892	0.0:0.0:0.0:1.0	.	47;55	B4DPY5;Q9Y5W9	.;SNX11_HUMAN	R	55	ENSP00000377059:C55R;ENSP00000352175:C55R	ENSP00000352175:C55R	C	+	1	0	SNX11	43545695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.410000	0.80065	2.046000	0.60703	0.455000	0.32223	TGT	SNX11	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000002919		0.473	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	-	0.00	46	0	T			46190696	+1	tier1	-	no_errors	ENST00000359238	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	C
SOBP	55084	genome.wustl.edu	37	6	107955278	107955278	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:107955278C>T	ENST00000317357.5	+	6	1889	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCGCCCGCCCTTCATCCGCG	0.701																																																	0													57.0	67.0	64.0					6																	107955278		2006	4169	6175	SO:0001819	synonymous_variant	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1230C>T	6.37:g.107955278C>T				Silent	SNP	NULL	p.P410	ENST00000317357.5	37	c.1230	CCDS43488.1	6																																																																																			SOBP	-	NULL	ENSG00000112320		0.701	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0.00	40	0	C	NM_018013		107955278	+1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	silent	50.00	12	12	SNP	1.000	T
SOX17	64321	genome.wustl.edu	37	8	55372161	55372161	+	Missense_Mutation	SNP	C	C	T	rs200451706		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:55372161C>T	ENST00000297316.4	+	2	1055	c.851C>T	c.(850-852)cCg>cTg	p.P284L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	284	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCCTCGATTCCGGGCCTCCTG	0.746																																																	0													2.0	2.0	2.0					8																	55372161		1454	3113	4567	SO:0001583	missense	0			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.851C>T	8.37:g.55372161C>T	ENSP00000297316:p.Pro284Leu			Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P284L	ENST00000297316.4	37	c.851	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505882	0.44558	.	.	ENSG00000164736	ENST00000297316	D	0.96967	-4.19	4.56	1.07	0.20283	.	0.267588	0.37053	N	0.002280	D	0.92883	0.7736	M	0.63843	1.955	0.49130	D	0.999751	B	0.06786	0.001	B	0.04013	0.001	D	0.85236	0.1035	10	0.20519	T	0.43	.	7.8626	0.29517	0.5278:0.3843:0.0:0.0879	.	284	Q9H6I2	SOX17_HUMAN	L	284	ENSP00000297316:P284L	ENSP00000297316:P284L	P	+	2	0	SOX17	55534714	0.000000	0.05858	0.934000	0.37439	0.225000	0.24961	-0.266000	0.08631	0.294000	0.22547	0.455000	0.32223	CCG	SOX17	-	pfam_Sox_C_TAD	ENSG00000164736		0.746	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	-	0.00	12	0	C			55372161	+1	tier1	rs200451706	no_errors	ENST00000297316	ensembl	human	known	74_37	missense	52.17	11	12	SNP	0.971	T
SPATA31E1	286234	genome.wustl.edu	37	9	90503384	90503384	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:90503384G>T	ENST00000325643.5	+	4	4048	c.3982G>T	c.(3982-3984)Gtg>Ttg	p.V1328L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1328					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAAATCCTGGTGGACAAACT	0.577																																																	0													74.0	72.0	73.0					9																	90503384		2203	4300	6503	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3982G>T	9.37:g.90503384G>T	ENSP00000322640:p.Val1328Leu		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.V1328L	ENST00000325643.5	37	c.3982	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	g	6.034	0.374615	0.11409	.	.	ENSG00000177992	ENST00000325643	T	0.03801	3.8	2.47	-1.72	0.08107	.	2.586540	0.01648	N	0.024411	T	0.04048	0.0113	L	0.34521	1.04	0.09310	N	1	B	0.29432	0.244	B	0.22753	0.041	T	0.35226	-0.9797	10	0.30854	T	0.27	.	3.1533	0.06495	0.4156:0.2217:0.3627:0.0	.	1328	Q6ZUB1	CI079_HUMAN	L	1328	ENSP00000322640:V1328L	ENSP00000322640:V1328L	V	+	1	0	C9orf79	89693204	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.260000	0.08708	-0.435000	0.07264	0.655000	0.94253	GTG	SPATA31E1	-	NULL	ENSG00000177992		0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0.00	34	0	G	NM_178828		90503384	+1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.000	T
SPEF2	79925	genome.wustl.edu	37	5	35646850	35646850	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr5:35646850A>C	ENST00000356031.3	+	5	821	c.667A>C	c.(667-669)Aat>Cat	p.N223H	SPEF2_ENST00000282469.6_Missense_Mutation_p.N223H|SPEF2_ENST00000509059.1_Missense_Mutation_p.N223H|SPEF2_ENST00000440995.2_Missense_Mutation_p.N223H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	223					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCTGCATCAAATCGTACTTT	0.333																																																	0													94.0	99.0	97.0					5																	35646850		2203	4300	6503	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.667A>C	5.37:g.35646850A>C	ENSP00000348314:p.Asn223His		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.N223H	ENST00000356031.3	37	c.667	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089593	0.55968	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.32515	2.29;3.26;2.29;1.45;3.26	5.76	5.76	0.90799	.	0.610009	0.18122	N	0.151014	T	0.50990	0.1648	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.993	D;D;P	0.85130	0.997;0.941;0.878	T	0.44205	-0.9343	10	0.45353	T	0.12	.	12.5695	0.56328	0.8614:0.1386:0.0:0.0	.	223;223;223	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	H	223;223;223;166;223	ENSP00000282469:N223H;ENSP00000348314:N223H;ENSP00000421593:N223H;ENSP00000426259:N166H;ENSP00000412125:N223H	ENSP00000282469:N223H	N	+	1	0	SPEF2	35682607	0.582000	0.26749	0.998000	0.56505	0.547000	0.35210	3.928000	0.56506	2.209000	0.71365	0.533000	0.62120	AAT	SPEF2	-	NULL	ENSG00000152582		0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0.00	35	0	A	NM_144722		35646850	+1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.828	C
SPO11	23626	genome.wustl.edu	37	20	55908291	55908291	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:55908291G>T	ENST00000371263.3	+	3	402	c.293G>T	c.(292-294)aGa>aTa	p.R98I	SPO11_ENST00000371260.4_Missense_Mutation_p.R60I|SPO11_ENST00000345868.4_Missense_Mutation_p.R60I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	98					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TGCACCACCAGAAAGATCAAA	0.313								Editing and processing nucleases																																									0													79.0	84.0	82.0					20																	55908291		2203	4299	6502	SO:0001583	missense	0			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.293G>T	20.37:g.55908291G>T	ENSP00000360310:p.Arg98Ile		Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A	p.R98I	ENST00000371263.3	37	c.293	CCDS13456.1	20	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626344	0.28978	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.20332	2.08;2.19;2.18;2.08	5.39	3.41	0.39046	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.301114	0.39083	N	0.001473	T	0.15392	0.0371	L	0.38531	1.155	0.51482	D	0.999924	B;B	0.16166	0.016;0.005	B;B	0.14023	0.01;0.004	T	0.06041	-1.0849	10	0.29301	T	0.29	-23.9077	9.4479	0.38708	0.2345:0.0:0.7655:0.0	.	60;98	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	I	98;60;60;76	ENSP00000360310:R98I;ENSP00000316034:R60I;ENSP00000360307:R60I;ENSP00000413185:R76I	ENSP00000316034:R60I	R	+	2	0	SPO11	55341698	1.000000	0.71417	0.993000	0.49108	0.632000	0.37999	1.724000	0.38064	1.422000	0.47177	0.591000	0.81541	AGA	SPO11	-	prints_Meiotic_Spo11	ENSG00000054796		0.313	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPO11	HGNC	protein_coding	OTTHUMT00000079836.2	-	0.00	66	0	G	NM_012444		55908291	+1	tier1	-	no_errors	ENST00000371263	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.996	T
SSFA2	6744	genome.wustl.edu	37	2	182780039	182780039	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr2:182780039G>A	ENST00000431877.2	+	11	1851	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T	SSFA2_ENST00000409136.1_Missense_Mutation_p.A67T|SSFA2_ENST00000409001.1_Missense_Mutation_p.A558T|SSFA2_ENST00000320370.7_Missense_Mutation_p.A558T|SSFA2_ENST00000428267.2_Missense_Mutation_p.A405T	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	558						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CACACCAACAGCACAAGACCA	0.478																																																	0													92.0	83.0	86.0					2																	182780039		2203	4300	6503	SO:0001583	missense	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1672G>A	2.37:g.182780039G>A	ENSP00000388731:p.Ala558Thr		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.A558T	ENST00000431877.2	37	c.1672	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871806	0.51695	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.22743	2.22;1.98;2.2;2.22;1.94	5.81	4.93	0.64822	.	0.173016	0.50627	D	0.000112	T	0.25754	0.0627	M	0.71581	2.175	0.35050	D	0.760566	B;B;B;B;B	0.27351	0.176;0.103;0.026;0.015;0.061	B;B;B;B;B	0.19391	0.025;0.025;0.025;0.025;0.025	T	0.28396	-1.0045	10	0.44086	T	0.13	-1.3283	14.6673	0.68918	0.0693:0.0:0.9307:0.0	.	405;67;558;558;558	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	T	558;558;558;405;67	ENSP00000388731:A558T;ENSP00000314669:A558T;ENSP00000387319:A558T;ENSP00000409867:A405T;ENSP00000386916:A67T	ENSP00000314669:A558T	A	+	1	0	SSFA2	182488284	0.129000	0.22400	0.681000	0.30009	0.857000	0.48899	2.288000	0.43514	1.468000	0.48064	0.555000	0.69702	GCA	SSFA2	-	NULL	ENSG00000138434		0.478	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	-	0.00	44	0	G	NM_006751		182780039	+1	tier1	-	no_errors	ENST00000431877	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.353	A
SSPO	23145	genome.wustl.edu	37	7	149516919	149516920	+	RNA	INS	-	-	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:149516919_149516920insC	ENST00000378016.2	+	0	12121_12122							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAACGGGGGAGCCCCCTGTGCT	0.644																																																	0										2,3640		0,2,1819						3.1	0.9			15	0,7756		0,0,3878	no	frameshift	SSPO	NM_198455.2		0,2,5697	A1A1,A1R,RR		0.0,0.0549,0.0175				2,11396						0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516924_149516924dupC			Q76B61	RNA	INS	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.644	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0.00	67	0	-			149516920	+1	tier1		no_errors	ENST00000378016	ensembl	human	known	74_37	rna	44.62	72	58	INS	0.464:0.462	C
STAT5B	6777	genome.wustl.edu	37	17	40354821	40354821	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr17:40354821C>T	ENST00000293328.3	-	17	2251	c.2083G>A	c.(2083-2085)Gct>Act	p.A695T		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	695					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCATCAACAGCTTTAGCTGCC	0.448																																																	0													244.0	193.0	211.0					17																	40354821		2203	4300	6503	SO:0001583	missense	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.2083G>A	17.37:g.40354821C>T	ENSP00000293328:p.Ala695Thr		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.A695T	ENST00000293328.3	37	c.2083	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333129	0.41297	.	.	ENSG00000173757	ENST00000293328	D	0.96232	-3.95	4.48	4.48	0.54585	SH2 motif (2);	0.202030	0.23889	U	0.043562	D	0.92293	0.7555	L	0.40543	1.245	0.53688	D	0.99997	B	0.06786	0.001	B	0.10450	0.005	D	0.87741	0.2585	10	0.15952	T	0.53	-10.8209	10.914	0.47124	0.0:0.9137:0.0:0.0863	.	695	P51692	STA5B_HUMAN	T	695	ENSP00000293328:A695T	ENSP00000293328:A695T	A	-	1	0	STAT5B	37608347	1.000000	0.71417	0.994000	0.49952	0.606000	0.37113	4.605000	0.61119	2.323000	0.78572	0.561000	0.74099	GCT	STAT5B	-	smart_SH2	ENSG00000173757		0.448	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	-	0.00	61	0	C	NM_012448		40354821	-1	tier1	-	no_errors	ENST00000293328	ensembl	human	known	74_37	missense	46.96	60	54	SNP	1.000	T
SUGP2	10147	genome.wustl.edu	37	19	19130025	19130025	+	Silent	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:19130025T>C	ENST00000601879.1	-	4	2040	c.1743A>G	c.(1741-1743)cgA>cgG	p.R581R	SUGP2_ENST00000600377.1_Silent_p.R595R|SUGP2_ENST00000337018.6_Silent_p.R581R|SUGP2_ENST00000456085.2_Silent_p.R350R|SUGP2_ENST00000452918.2_Silent_p.R581R			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	581					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGTGATCTGCTCGCTGGGGGA	0.522																																																	0													79.0	66.0	70.0					19																	19130025		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1743A>G	19.37:g.19130025T>C			C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.R581	ENST00000601879.1	37	c.1743	CCDS12392.1	19																																																																																			SUGP2	-	superfamily_Surp	ENSG00000064607		0.522	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1		0.00	51	0	T	NM_001017392		19130025	-1			no_errors	ENST00000337018	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	C
SVOPL	136306	genome.wustl.edu	37	7	138279224	138279224	+	IGR	SNP	C	C	T	rs112396955		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:138279224C>T	ENST00000419765.3	-	0	1523				SVOPL_ENST00000436657.1_3'UTR|SVOPL_ENST00000288513.5_3'UTR|SVOPL_ENST00000421622.1_3'UTR|SVOPL_ENST00000463557.1_5'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like							integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCATATATGCCTTTAAAAAAA	0.294																																																	0																																										SO:0001628	intergenic_variant	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870		7.37:g.138279224C>T				RNA	SNP	-	NULL	ENST00000419765.3	37	NULL	CCDS47721.1	7																																																																																			SVOPL	-	-	ENSG00000157703		0.294	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	0.00	42	0	C	NM_174959		138279224	-1	tier1	-	no_errors	ENST00000463557	ensembl	human	known	74_37	rna	48.94	24	23	SNP	0.006	T
TADA1	117143	genome.wustl.edu	37	1	166826666	166826666	+	3'UTR	SNP	A	A	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:166826666A>C	ENST00000367874.4	-	0	1239				TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AGCAACACAAAATGTACTCAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.*138T>G	1.37:g.166826666A>C			A8K4J9	RNA	SNP	-	NULL	ENST00000367874.4	37	NULL	CCDS1255.1	1																																																																																			TADA1	-	-	ENSG00000152382		0.348	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	-	0.00	18	0	A	NM_053053		166826666	-1	tier1	-	no_errors	ENST00000467021	ensembl	human	known	74_37	rna	70.00	6	14	SNP	0.818	C
TADA2B	93624	genome.wustl.edu	37	4	7055827	7055827	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:7055827C>T	ENST00000310074.7	+	2	498	c.309C>T	c.(307-309)ccC>ccT	p.P103P	TADA2B_ENST00000512388.1_Silent_p.P28P|TADA2B_ENST00000515646.1_Silent_p.P11P	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	103	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CCCGGACTCCCCAAGAGGTGA	0.572																																																	0													35.0	40.0	38.0					4																	7055827		2067	4180	6247	SO:0001819	synonymous_variant	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.309C>T	4.37:g.7055827C>T			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.P103	ENST00000310074.7	37	c.309	CCDS47007.1	4																																																																																			TADA2B	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom	ENSG00000173011		0.572	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0.00	64	0	C	NM_152293		7055827	+1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	silent	48.84	22	21	SNP	0.447	T
TARDBP	23435	genome.wustl.edu	37	1	11084334	11084334	+	IGR	DEL	T	T	-	rs566657331	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:11084334delT	ENST00000240185.3	+	0	2748				TARDBP_ENST00000480464.1_3'UTR	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAAGTGAAAATTTTTTTTTTT	0.383																																																	0																																										SO:0001628	intergenic_variant	0			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120		1.37:g.11084334delT			A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	RNA	DEL	-	NULL	ENST00000240185.3	37	NULL	CCDS122.1	1																																																																																			TARDBP	-	-	ENSG00000120948		0.383	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARDBP	HGNC	protein_coding	OTTHUMT00000006063.1		0.00	16	0	T	NM_007375		11084334	+1	tier1		no_errors	ENST00000480464	ensembl	human	known	74_37	rna	50.00	7	7	DEL	0.289	-
TARSL2	123283	genome.wustl.edu	37	15	102263299	102263299	+	Missense_Mutation	SNP	G	G	C	rs142596036	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:102263299G>C	ENST00000335968.3	-	2	582	c.366C>G	c.(364-366)agC>agG	p.S122R		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	122					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACTTACCTCGCTGTCAGCCT	0.328																																																	0													142.0	122.0	128.0					15																	102263299		2203	4300	6503	SO:0001583	missense	0			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.366C>G	15.37:g.102263299G>C	ENSP00000338093:p.Ser122Arg		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.S122R	ENST00000335968.3	37	c.366	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	.	0.235	-1.017980	0.02078	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	2.79	-1.05	0.10036	.	1.789500	0.02950	N	0.141569	T	0.13713	0.0332	N	0.02539	-0.55	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.12477	-1.0546	9	0.14252	T	0.57	-1.0461	3.0754	0.06245	0.453:0.2526:0.2944:0.0	.	122	A2RTX5	SYTC2_HUMAN	R	122	.	ENSP00000329291:S122R	S	-	3	2	TARSL2	100080822	0.001000	0.12720	0.003000	0.11579	0.063000	0.16089	-0.661000	0.05311	-0.217000	0.10033	-0.501000	0.04562	AGC	TARSL2	-	NULL	ENSG00000185418		0.328	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	-	0.00	61	0	G	NM_152334		102263299	-1	tier1	-	no_errors	ENST00000335968	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.004	C
TAS2R3	50831	genome.wustl.edu	37	7	141464471	141464471	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr7:141464471C>A	ENST00000247879.2	+	1	575	c.513C>A	c.(511-513)ttC>ttA	p.F171L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	171					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.F171F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CTGAACACTTCAGAAAGAAGA	0.458																																																	1	Substitution - coding silent(1)	breast(1)											152.0	136.0	141.0					7																	141464471		2203	4300	6503	SO:0001583	missense	0			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.513C>A	7.37:g.141464471C>A	ENSP00000247879:p.Phe171Leu		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.F171L	ENST00000247879.2	37	c.513	CCDS5867.1	7	.	.	.	.	.	.	.	.	.	.	C	9.975	1.226442	0.22542	.	.	ENSG00000127362	ENST00000247879	T	0.36340	1.26	6.04	2.97	0.34412	.	1.604040	0.03201	N	0.174839	T	0.30634	0.0771	L	0.39147	1.195	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.15954	-1.0419	10	0.28530	T	0.3	.	4.4942	0.11828	0.0:0.568:0.1846:0.2474	.	171	Q9NYW6	TA2R3_HUMAN	L	171	ENSP00000247879:F171L	ENSP00000247879:F171L	F	+	3	2	TAS2R3	141110940	0.000000	0.05858	0.002000	0.10522	0.339000	0.28857	-0.836000	0.04382	0.718000	0.32166	0.563000	0.77884	TTC	TAS2R3	-	pfam_TAS2_rcpt	ENSG00000127362		0.458	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R3	HGNC	protein_coding	OTTHUMT00000349288.1	-	0.00	47	0	C			141464471	+1	tier1	-	no_errors	ENST00000247879	ensembl	human	known	74_37	missense	25.35	53	18	SNP	0.003	A
TBL1X	6907	genome.wustl.edu	37	X	9622336	9622336	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chrX:9622336T>C	ENST00000217964.7	+	5	825	c.185T>C	c.(184-186)cTg>cCg	p.L62P	TBL1X_ENST00000380961.1_Missense_Mutation_p.L11P|TBL1X_ENST00000407597.2_Missense_Mutation_p.L62P|TBL1X_ENST00000424279.1_Missense_Mutation_p.L11P|TBL1X_ENST00000536365.1_Missense_Mutation_p.L11P	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	62	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GTGAACTTTCTGGTGTATCGG	0.468																																																	0													215.0	155.0	176.0					X																	9622336		2203	4300	6503	SO:0001583	missense	0			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.185T>C	X.37:g.9622336T>C	ENSP00000217964:p.Leu62Pro		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L62P	ENST00000217964.7	37	c.185	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855942	0.71834	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000415293;ENST00000217964;ENST00000422314;ENST00000452824	D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	4.89	4.89	0.63831	LisH dimerisation motif (2);LisH dimerisation motif, subgroup (1);	2.199050	0.03102	U	0.161215	D	0.94614	0.8264	M	0.86178	2.8	0.80722	D	1	D	0.61080	0.989	D	0.69142	0.962	D	0.83900	0.0289	9	.	.	.	.	11.5971	0.50979	0.0:0.0:0.0:1.0	.	62	O60907	TBL1X_HUMAN	P	62;11;11;11;11;62;11;62	ENSP00000385988:L62P;ENSP00000394097:L11P;ENSP00000445317:L11P;ENSP00000370348:L11P;ENSP00000407069:L11P;ENSP00000217964:L62P;ENSP00000415508:L11P;ENSP00000397878:L62P	.	L	+	2	0	TBL1X	9582336	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	5.224000	0.65288	1.638000	0.50547	0.425000	0.28330	CTG	TBL1X	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000101849		0.468	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1		0.00	47	0	T	NM_005647		9622336	+1			no_errors	ENST00000217964	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.997	C
TLL1	7092	genome.wustl.edu	37	4	166915537	166915537	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:166915537G>T	ENST00000061240.2	+	4	1013	c.366G>T	c.(364-366)ttG>ttT	p.L122F	TLL1_ENST00000507499.1_Missense_Mutation_p.L122F|TLL1_ENST00000513213.1_Missense_Mutation_p.L122F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	122					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)			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)		CTGCAGGCTTGGAGCAAAACA	0.378																																																	0													64.0	61.0	62.0					4																	166915537		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.366G>T	4.37:g.166915537G>T	ENSP00000061240:p.Leu122Phe		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.L122F	ENST00000061240.2	37	c.366	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267337	0.23136	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.78003	0.43;0.35;0.3;-1.14	5.31	3.22	0.36961	.	0.644830	0.13957	U	0.351087	T	0.54351	0.1853	N	0.14661	0.345	0.23249	N	0.998042	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37009	-0.9724	10	0.09590	T	0.72	.	4.6113	0.12404	0.2648:0.0:0.5303:0.2048	.	122;122	E9PD25;O43897	.;TLL1_HUMAN	F	122;122;122;22	ENSP00000061240:L122F;ENSP00000426082:L122F;ENSP00000422937:L122F;ENSP00000423748:L22F	ENSP00000061240:L122F	L	+	3	2	TLL1	167134987	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.396000	0.34531	1.222000	0.43521	0.655000	0.94253	TTG	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.378	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0.00	66	0	G			166915537	+1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.997	T
TMC3	342125	genome.wustl.edu	37	15	81638719	81638719	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:81638719C>T	ENST00000359440.5	-	12	1394	c.1259G>A	c.(1258-1260)aGc>aAc	p.S420N	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.S421N|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AATGCTCATGCTGTTAACTTT	0.532																																																	0													110.0	115.0	113.0					15																	81638719		2051	4211	6262	SO:0001583	missense	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1259G>A	15.37:g.81638719C>T	ENSP00000352413:p.Ser420Asn			Missense_Mutation	SNP	pfam_TMC	p.S420N	ENST00000359440.5	37	c.1259	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760746	0.31137	.	.	ENSG00000188869	ENST00000359440	T	0.56941	0.43	4.8	4.8	0.61643	.	0.317425	0.33916	N	0.004422	T	0.48277	0.1491	L	0.53249	1.67	0.52099	D	0.999943	B;B	0.22346	0.068;0.063	B;B	0.24974	0.048;0.057	T	0.41161	-0.9524	10	0.25106	T	0.35	-30.3105	14.0271	0.64592	0.1517:0.8483:0.0:0.0	.	420;420	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	N	420	ENSP00000352413:S420N	ENSP00000352413:S420N	S	-	2	0	TMC3	79425774	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.556000	0.36288	2.347000	0.79759	0.655000	0.94253	AGC	TMC3	-	NULL	ENSG00000188869		0.532	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	-	0.00	34	0	C	NM_181841		81638719	-1	tier1	-	no_errors	ENST00000359440	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
TMEM144	55314	genome.wustl.edu	37	4	159133982	159133983	+	Intron	INS	-	-	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:159133982_159133983insT	ENST00000296529.6	+	3	629				TMEM144_ENST00000509278.1_Frame_Shift_Ins_p.L55fs|TMEM144_ENST00000514558.1_Intron	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AATGAAGTTCCTTTTTTGGTCT	0.277																																																	0																																										SO:0001627	intron_variant	0			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.109+54->T	4.37:g.159133988_159133988dupT			D3DP24|Q49A05|Q9NUT3	Frame_Shift_Ins	INS	pfam_DUF1632_TMEM144	p.W57fs	ENST00000296529.6	37	c.163_164	CCDS3799.1	4																																																																																			TMEM144	-	NULL	ENSG00000164124		0.277	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM144	HGNC	protein_coding	OTTHUMT00000365597.1		0.00	40	0	-	NM_018342		159133983	+1	tier1		no_errors	ENST00000509278	ensembl	human	putative	74_37	frame_shift_ins	5.13	37	2	INS	0.000:0.000	T
TMEM63B	55362	genome.wustl.edu	37	6	44108077	44108077	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:44108077C>T	ENST00000259746.9	+	9	874	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.R231C			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	231					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.R231C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTCCAAGATGCGCTACAAGGA	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											115.0	83.0	94.0					6																	44108077		2202	4300	6502	SO:0001583	missense	0			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.691C>T	6.37:g.44108077C>T	ENSP00000259746:p.Arg231Cys		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.R231C	ENST00000259746.9	37	c.691	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644971	0.87859	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.37915	1.17;1.17	4.45	4.45	0.53987	.	0.053599	0.85682	D	0.000000	T	0.39708	0.1088	L	0.50333	1.59	0.80722	D	1	P;D;D	0.76494	0.917;0.998;0.999	P;P;P	0.56700	0.707;0.696;0.804	T	0.37079	-0.9721	10	0.72032	D	0.01	.	16.264	0.82565	0.0:1.0:0.0:0.0	.	231;231;231	Q5T3F8-3;Q5T3F8;Q5T3F8-2	.;TM63B_HUMAN;.	C	231	ENSP00000259746:R231C;ENSP00000327154:R231C	ENSP00000259746:R231C	R	+	1	0	TMEM63B	44216055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.650000	0.61440	2.317000	0.78254	0.561000	0.74099	CGC	TMEM63B	-	NULL	ENSG00000137216		0.587	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2		0.00	41	0	C	XM_166410		44108077	+1			no_errors	ENST00000259746	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T
TMPRSS13	84000	genome.wustl.edu	37	11	117779198	117779198	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr11:117779198G>C	ENST00000526090.1	-	9	1562	c.1411C>G	c.(1411-1413)Ctt>Gtt	p.L471V	TMPRSS13_ENST00000524993.1_Intron|TMPRSS13_ENST00000430170.2_Intron|TMPRSS13_ENST00000445164.2_Intron|TMPRSS13_ENST00000528626.1_Intron	NM_001206790.1	NP_001193719.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	0	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ggatctttaagagtctttGAC	0.473																																																	0																																										SO:0001583	missense	0			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000526090.1:c.1411C>G	11.37:g.117779198G>C	ENSP00000436502:p.Leu471Val		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L471V	ENST00000526090.1	37	c.1411	CCDS55789.1	11	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979323	0.18812	.	.	ENSG00000137747	ENST00000526090	D	0.89939	-2.59	2.75	-0.246	0.13022	.	.	.	.	.	T	0.80259	0.4590	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.13407	0.009	T	0.68047	-0.5512	8	0.72032	D	0.01	.	3.158	0.06510	0.2764:0.2289:0.4947:0.0	.	466	Q9BYE2-4	.	V	471	ENSP00000436502:L471V	ENSP00000436502:L471V	L	-	1	0	TMPRSS13	117284408	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.464000	0.21988	-0.040000	0.13580	-0.150000	0.13652	CTT	TMPRSS13	-	smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000137747		0.473	TMPRSS13-001	KNOWN	basic|CCDS	protein_coding	TMPRSS13	HGNC	protein_coding	OTTHUMT00000392320.1	-	0.00	46	0	G	NM_032046		117779198	-1	tier1	-	no_errors	ENST00000526090	ensembl	human	known	74_37	missense	90.62	3	29	SNP	0.000	C
TNFAIP8L3	388121	genome.wustl.edu	37	15	51350297	51350297	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr15:51350297G>A	ENST00000327536.5	-	3	759	c.660C>T	c.(658-660)aaC>aaT	p.N220N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	220										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGGAGAGCACGTTCCTATCGA	0.542																																																	0													98.0	82.0	88.0					15																	51350297		2196	4293	6489	SO:0001819	synonymous_variant	0			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.660C>T	15.37:g.51350297G>A			Q6ZWD1	Silent	SNP	pfam_DUF758	p.N220	ENST00000327536.5	37	c.660	CCDS32241.1	15																																																																																			TNFAIP8L3	-	pfam_DUF758	ENSG00000183578		0.542	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L3	HGNC	protein_coding	OTTHUMT00000418661.1	-	0.00	22	0	G	NM_207381		51350297	-1	tier1	-	no_errors	ENST00000327536	ensembl	human	known	74_37	silent	60.00	16	24	SNP	0.251	A
TNFRSF11B	4982	genome.wustl.edu	37	8	119945384	119945384	+	Silent	SNP	G	G	A	rs142201380	byFrequency	TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr8:119945384G>A	ENST00000297350.4	-	2	564	c.186C>T	c.(184-186)tgC>tgT	p.C62C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	62					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.C62C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GGCAAGGGGCGCACACGGTCT	0.517													G|||	15	0.00299521	0.0113	0.0	5008	,	,		20846	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)						G		46,4360	48.2+/-83.0	1,44,2158	290.0	258.0	269.0		186	-6.6	0.0	8	dbSNP_134	269	0,8600		0,0,4300	no	coding-synonymous	TNFRSF11B	NM_002546.3		1,44,6458	AA,AG,GG		0.0,1.044,0.3537		62/402	119945384	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	0			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.186C>T	8.37:g.119945384G>A			B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg	p.C62	ENST00000297350.4	37	c.186	CCDS6326.1	8																																																																																			TNFRSF11B	-	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg	ENSG00000164761		0.517	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	HGNC	protein_coding	OTTHUMT00000381220.1		0.00	53	0	G			119945384	-1			no_errors	ENST00000297350	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.001	A
TRANK1	9881	genome.wustl.edu	37	3	36874533	36874533	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:36874533G>A	ENST00000429976.2	-	21	6656	c.6409C>T	c.(6409-6411)Cgg>Tgg	p.R2137W	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1587W|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1587W	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2137							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCAGGCTCCGTGTGATCTGA	0.428																																																	0													64.0	61.0	62.0					3																	36874533		1884	4109	5993	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6409C>T	3.37:g.36874533G>A	ENSP00000416168:p.Arg2137Trp		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R2137W	ENST00000429976.2	37	c.6409	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	7.964	0.747704	0.15710	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.33654	1.4;1.82;1.4	5.34	2.5	0.30297	.	0.927212	0.09080	N	0.851453	T	0.24774	0.0601	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	B	0.40410	0.328	T	0.12218	-1.0556	10	0.72032	D	0.01	.	10.1912	0.43028	0.0:0.1324:0.486:0.3817	.	2137	O15050	TRNK1_HUMAN	W	1587;2137;1587	ENSP00000416826:R1587W;ENSP00000416168:R2137W;ENSP00000301807:R1587W	ENSP00000301807:R1587W	R	-	1	2	TRANK1	36849537	0.051000	0.20477	0.522000	0.27862	0.272000	0.26649	0.880000	0.28159	0.303000	0.22785	0.555000	0.69702	CGG	TRANK1	-	NULL	ENSG00000168016		0.428	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0.00	48	0	G	NM_014831		36874533	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.013	A
TRIM42	287015	genome.wustl.edu	37	3	140407024	140407024	+	Silent	SNP	A	A	G			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:140407024A>G	ENST00000286349.3	+	3	1691	c.1500A>G	c.(1498-1500)tcA>tcG	p.S500S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	500						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TACGCTCCTCAGGGGACTCCC	0.567																																																	0													78.0	76.0	77.0					3																	140407024		2203	4300	6503	SO:0001819	synonymous_variant	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1500A>G	3.37:g.140407024A>G			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S500	ENST00000286349.3	37	c.1500	CCDS3113.1	3																																																																																			TRIM42	-	NULL	ENSG00000155890		0.567	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0.00	34	0	A	NM_152616		140407024	+1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.233	G
TRMT13	54482	genome.wustl.edu	37	1	100606480	100606480	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:100606480G>A	ENST00000370141.2	+	7	580	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	192					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GTTTGGAGCGGGAAAGGGAAA	0.348																																																	0													131.0	127.0	128.0					1																	100606480		2203	4300	6503	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.574G>A	1.37:g.100606480G>A	ENSP00000359160:p.Gly192Arg		Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.G192R	ENST00000370141.2	37	c.574	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872626	0.91587	.	.	ENSG00000122435	ENST00000370141	D	0.86865	-2.18	5.62	5.62	0.85841	Methyltransferase TRM13 (1);	0.095484	0.64402	D	0.000001	D	0.95149	0.8428	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.95780	0.8816	10	0.87932	D	0	-15.0065	19.6541	0.95830	0.0:0.0:1.0:0.0	.	178;192	B4DQS9;Q9NUP7	.;TRM13_HUMAN	R	192	ENSP00000359160:G192R	ENSP00000359160:G192R	G	+	1	0	CCDC76	100379068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.756000	0.91651	2.638000	0.89438	0.563000	0.77884	GGA	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.348	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1	-	0.00	39	0	G	NM_019083		100606480	+1	tier1	-	no_errors	ENST00000370141	ensembl	human	known	74_37	missense	46.81	25	22	SNP	1.000	A
TSTD2	158427	genome.wustl.edu	37	9	100367120	100367120	+	Nonsense_Mutation	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:100367120T>A	ENST00000341170.4	-	9	1523	c.1141A>T	c.(1141-1143)Aag>Tag	p.K381*	TSTD2_ENST00000354801.2_Nonsense_Mutation_p.K121*	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	381	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.									large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						ATGCCACCCTTGAGCTGGAAC	0.478																																																	0													104.0	94.0	97.0					9																	100367120		2203	4300	6503	SO:0001587	stop_gained	0			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1141A>T	9.37:g.100367120T>A	ENSP00000342499:p.Lys381*		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Nonsense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.K381*	ENST00000341170.4	37	c.1141	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	T	42	9.694673	0.99241	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	.	.	.	4.3	4.3	0.51218	.	0.047561	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3458	13.5952	0.61984	0.0:0.0:0.0:1.0	.	.	.	.	X	155;381;121;121	.	ENSP00000342499:K381X	K	-	1	0	TSTD2	99406941	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.637000	0.67854	1.947000	0.56498	0.460000	0.39030	AAG	TSTD2	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000136925		0.478	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4	-	0.00	33	0	T	NM_139246		100367120	-1	tier1	-	no_errors	ENST00000341170	ensembl	human	known	74_37	nonsense	10.00	27	3	SNP	1.000	A
TTLL11	158135	genome.wustl.edu	37	9	124855629	124855629	+	Silent	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:124855629G>T	ENST00000373776.3	-	1	256	c.69C>A	c.(67-69)ctC>ctA	p.L23L	TTLL11_ENST00000474723.1_5'Flank|TTLL11_ENST00000321582.5_Silent_p.L23L	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	23					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						ATCGCCGGCCGAGCCCCAGCG	0.692																																																	0													9.0	10.0	10.0					9																	124855629		1661	3127	4788	SO:0001819	synonymous_variant	0			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.69C>A	9.37:g.124855629G>T				Silent	SNP	pfam_TTL/TTLL_fam	p.L23	ENST00000373776.3	37	c.69	CCDS6834.2	9																																																																																			TTLL11	-	NULL	ENSG00000175764		0.692	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	HGNC	protein_coding	OTTHUMT00000053907.1		0.00	14	0	G	XM_088486		124855629	-1			no_errors	ENST00000321582	ensembl	human	known	74_37	silent	14.29	12	2	SNP	0.000	T
BLOC1S5	63915	genome.wustl.edu	37	6	8026623	8026623	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:8026623G>T	ENST00000397457.2	-	4	398	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5-TXNDC5_ENST00000439343.2_Missense_Mutation_p.Q117K|BLOC1S5_ENST00000543936.1_Missense_Mutation_p.Q57K|TXNDC5_ENST00000539054.1_Missense_Mutation_p.N8K	NM_001199323.1|NM_201280.2	NP_001186252.1|NP_958437.1	Q8TDH9	BL1S5_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 5, muted	121					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)											TGTTCCCTCTGTTGGAGTCTA	0.373																																																	0													187.0	164.0	172.0					6																	8026623		2203	4300	6503	SO:0001583	missense	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.361C>A	6.37:g.8026623G>T	ENSP00000380598:p.Gln121Lys		B4DVM2|Q0VDJ6|Q0VDJ7|Q5THS1|Q68D56|Q8N5F9|Q9NU16	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.N8K	ENST00000397457.2	37	c.24	CCDS4506.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409375|3.409375	0.62399|0.62399	.|.	.|.	ENSG00000239264|ENSG00000188428	ENST00000539054|ENST00000397457;ENST00000543936	T|.	0.03413|.	3.94|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|.	.|.	.|.	.|.	T|T	0.51924|0.51924	0.1703|0.1703	.|.	.|.	.|.	0.42803|0.42803	D|D	0.99393|0.99393	B|P;D	0.17465|0.55605	0.022|0.587;0.972	B|B;P	0.11329|0.48840	0.006|0.104;0.592	T|T	0.55302|0.55302	-0.8162|-0.8162	7|7	.|0.46703	.|T	.|0.11	.|.	14.462|14.462	0.67456|0.67456	0.0:0.1577:0.8423:0.0|0.0:0.1577:0.8423:0.0	.|.	8|57;121	Q86UY0|Q0VDJ6;Q8TDH9	.|.;MUTED_HUMAN	K|K	8|121;57	ENSP00000442453:N8K|.	.|ENSP00000380598:Q121K	N|Q	-|-	3|1	2|0	TXNDC5|MUTED	7971622|7971622	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.966000|0.966000	0.64601|0.64601	2.755000|2.755000	0.47540|0.47540	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	AAC|CAG	TXNDC5	-	NULL	ENSG00000239264		0.373	BLOC1S5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039797.2	-	0.00	54	0	G	NM_201280		8026623	-1	tier1	-	no_errors	ENST00000539054	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.998	T
U2AF1	7307	genome.wustl.edu	37	21	44513332	44513332	+	Silent	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr21:44513332C>T	ENST00000291552.4	-	8	695	c.603G>A	c.(601-603)gaG>gaA	p.E201E	U2AF1_ENST00000398137.1_Silent_p.E128E|U2AF1_ENST00000459639.1_Silent_p.E128E|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Silent_p.E201E	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	201	Arg/Gly/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GAGAACGACGCTCCCGGGATC	0.617			Mis		"""CLL, MDS"""																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													45.0	50.0	48.0					21																	44513332		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.603G>A	21.37:g.44513332C>T			Q701P4|Q71RF1	Silent	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.E201	ENST00000291552.4	37	c.603	CCDS13694.1	21																																																																																			U2AF1	-	NULL	ENSG00000160201		0.617	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	-	0.00	82	0	C	NM_006758		44513332	-1	tier1	-	no_errors	ENST00000291552	ensembl	human	known	74_37	silent	91.67	5	55	SNP	0.999	T
UNC13A	23025	genome.wustl.edu	37	19	17738353	17738353	+	Silent	SNP	G	G	A	rs539091973		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:17738353G>A	ENST00000519716.2	-	33	3884	c.3885C>T	c.(3883-3885)aaC>aaT	p.N1295N	UNC13A_ENST00000550896.1_Silent_p.N1293N|UNC13A_ENST00000551649.1_Silent_p.N1295N|UNC13A_ENST00000252773.7_Silent_p.N1295N|UNC13A_ENST00000552293.1_Silent_p.N1295N|UNC13A_ENST00000428389.2_Silent_p.N1383N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1295					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.N1295N(1)|p.N1383N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATCCAAGACGTTATTGAGTT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19437	0.001		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	endometrium(2)											25.0	28.0	27.0					19																	17738353		1958	4145	6103	SO:0001819	synonymous_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3885C>T	19.37:g.17738353G>A			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.N1383	ENST00000519716.2	37	c.4149	CCDS46013.2	19																																																																																			UNC13A	-	NULL	ENSG00000130477		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0.00	22	0	G	XM_038604		17738353	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.996	A
UNC5C	8633	genome.wustl.edu	37	4	96091308	96091308	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr4:96091308T>A	ENST00000453304.1	-	15	2975	c.2627A>T	c.(2626-2628)gAc>gTc	p.D876V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	876	Death.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TACCCACCTGTCCAGGTTCAG	0.532																																																	0													92.0	95.0	94.0					4																	96091308		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2627A>T	4.37:g.96091308T>A	ENSP00000406022:p.Asp876Val		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.D876V	ENST00000453304.1	37	c.2627	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695930	0.88830	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	D	0.86562	-2.14	5.51	5.51	0.81932	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95044	0.8181	10	0.87932	D	0	.	15.79	0.78350	0.0:0.0:0.0:1.0	.	876	O95185	UNC5C_HUMAN	V	876;835	ENSP00000406022:D876V	ENSP00000328673:D835V	D	-	2	0	UNC5C	96310331	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.868000	0.87116	2.313000	0.78055	0.455000	0.32223	GAC	UNC5C	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain	ENSG00000182168		0.532	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0.00	65	0	T	NM_003728		96091308	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	40.82	28	20	SNP	1.000	A
UPK1A	11045	genome.wustl.edu	37	19	36159273	36159273	+	Intron	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:36159273G>A	ENST00000222275.2	+	2	84				UPK1A_ENST00000379013.2_Intron|UPK1A-AS1_ENST00000443196.1_RNA	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A						epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCCAAATGGGGAGGGAAC	0.622																																																	0																																										SO:0001627	intron_variant	0			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.85-83G>A	19.37:g.36159273G>A			Q3KNU5|Q3KNU6	RNA	SNP	-	NULL	ENST00000222275.2	37	NULL	CCDS12470.1	19																																																																																			UPK1A-AS1	-	-	ENSG00000226510		0.622	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A-AS1	HGNC	protein_coding	OTTHUMT00000109486.3	-	0.00	43	0	G			36159273	-1	tier1	-	no_errors	ENST00000443196	ensembl	human	known	74_37	rna	37.14	22	13	SNP	0.000	A
VILL	50853	genome.wustl.edu	37	3	38035810	38035810	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:38035810G>T	ENST00000283713.6	+	4	460	c.194G>T	c.(193-195)gGg>gTg	p.G65V	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.G65V			O15195	VILL_HUMAN	villin-like	65					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TACTGGGTCGGGAAGCAGGCG	0.697																																																	0													13.0	16.0	15.0					3																	38035810		2191	4289	6480	SO:0001583	missense	0				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.194G>T	3.37:g.38035810G>T	ENSP00000283713:p.Gly65Val		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.G65V	ENST00000283713.6	37	c.194	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	36	5.742016	0.96873	.	.	ENSG00000136059	ENST00000283713;ENST00000416303;ENST00000492491;ENST00000383759;ENST00000356246	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	3.89	3.89	0.44902	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95078	0.8210	10	0.87932	D	0	-24.6222	15.1658	0.72825	0.0:0.0:1.0:0.0	.	65	O15195	VILL_HUMAN	V	65	ENSP00000283713:G65V;ENSP00000393661:G65V;ENSP00000427355:G65V;ENSP00000373266:G65V	ENSP00000283713:G65V	G	+	2	0	VILL	38010814	1.000000	0.71417	0.136000	0.22124	0.781000	0.44180	9.347000	0.97059	2.179000	0.69175	0.563000	0.77884	GGG	VILL	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000136059		0.697	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3		0.00	32	0	G	NM_015873		38035810	+1			no_errors	ENST00000283713	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.995	T
YTHDF2	51441	genome.wustl.edu	37	1	29069108	29069108	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:29069108G>A	ENST00000373812.3	+	4	688	c.326G>A	c.(325-327)gGa>gAa	p.G109E	YTHDF2_ENST00000542507.1_Missense_Mutation_p.G109E|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.G59E	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	109	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAACCAGGAGCCCTAGGT	0.502																																																	0													180.0	174.0	176.0					1																	29069108		1947	4145	6092	SO:0001583	missense	0			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.326G>A	1.37:g.29069108G>A	ENSP00000362918:p.Gly109Glu		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.G109E	ENST00000373812.3	37	c.326	CCDS41296.1	1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763837	0.69878	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.36520	1.34;1.34;1.25	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.986	T	0.61589	-0.7032	10	0.87932	D	0	-20.6763	17.9052	0.88916	0.0:0.0:1.0:0.0	.	109;109	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	E	109;109;59;109	ENSP00000444660:G109E;ENSP00000362918:G109E;ENSP00000439394:G59E	ENSP00000362918:G109E	G	+	2	0	YTHDF2	28941695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.594000	0.87642	0.585000	0.79938	GGA	YTHDF2	-	NULL	ENSG00000198492		0.502	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1	-	0.00	65	0	G	NM_016258		29069108	+1	tier1	-	no_errors	ENST00000373812	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A
ZBP1	81030	genome.wustl.edu	37	20	56179776	56179776	+	Silent	SNP	A	A	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr20:56179776A>T	ENST00000371173.3	-	8	1320	c.1143T>A	c.(1141-1143)atT>atA	p.I381I	ZBP1_ENST00000340462.4_Silent_p.I358I|ZBP1_ENST00000395822.3_Silent_p.I306I	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	381					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGGGCTGACCAATGTCTCGAG	0.552																																																	0													174.0	134.0	148.0					20																	56179776		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.1143T>A	20.37:g.56179776A>T			A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.I381	ENST00000371173.3	37	c.1143	CCDS13461.1	20																																																																																			ZBP1	-	NULL	ENSG00000124256		0.552	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1		0.00	54	0	A	NM_030776		56179776	-1			no_errors	ENST00000371173	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.000	T
ZBTB22	9278	genome.wustl.edu	37	6	33284640	33284640	+	Silent	SNP	C	C	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:33284640C>A	ENST00000431845.2	-	2	205	c.54G>T	c.(52-54)tcG>tcT	p.S18S	TAPBP_ENST00000489157.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.S18S|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCGGAGCCAGCGACAGCGGCA	0.627																																																	0													27.0	31.0	30.0					6																	33284640		2203	4297	6500	SO:0001819	synonymous_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.54G>T	6.37:g.33284640C>A			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S18	ENST00000431845.2	37	c.54	CCDS4775.1	6																																																																																			ZBTB22	-	NULL	ENSG00000236104		0.627	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2	-	0.00	26	0	C			33284640	-1	tier1	-	no_errors	ENST00000418724	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.138	A
ZC3H13	23091	genome.wustl.edu	37	13	46562991	46562991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr13:46562991G>A	ENST00000242848.4	-	9	1534	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R396*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	396	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CCTTTCTCTCGCATTGGAGAG	0.458																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													148.0	127.0	134.0					13																	46562991		2203	4300	6503	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1186C>T	13.37:g.46562991G>A	ENSP00000242848:p.Arg396*		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R396*	ENST00000242848.4	37	c.1186		13	.	.	.	.	.	.	.	.	.	.	G	40	8.480922	0.98829	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.81	3.06	0.35304	.	0.000000	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8878	0.79264	0.0:0.0:0.3816:0.6184	.	.	.	.	X	396;396;212	.	ENSP00000242848:R396X	R	-	1	2	ZC3H13	45460992	0.942000	0.31987	1.000000	0.80357	0.999000	0.98932	0.800000	0.27042	0.321000	0.23259	0.655000	0.94253	CGA	ZC3H13	-	NULL	ENSG00000123200		0.458	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0.00	60	0	G	NM_015070		46562991	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	nonsense	23.64	41	13	SNP	0.994	A
ZFHX2	85446	genome.wustl.edu	37	14	23993643	23993643	+	Silent	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr14:23993643G>A	ENST00000419474.3	-	9	5863	c.5508C>T	c.(5506-5508)gaC>gaT	p.D1836D	RP11-66N24.4_ENST00000556354.1_RNA|ZFHX2_ENST00000606808.1_5'Flank|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1836					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						ACAAGCTGCCGTCCTCATGCT	0.627																																																	0																																										SO:0001819	synonymous_variant	0			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.5508C>T	14.37:g.23993643G>A			Q9UPU6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D1836	ENST00000419474.3	37	c.5508	CCDS55907.1	14																																																																																			ZFHX2	-	NULL	ENSG00000136367		0.627	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	-	0.00	26	0	G	NM_014894		23993643	-1	tier1	-	no_errors	ENST00000419474	ensembl	human	known	74_37	silent	61.29	12	19	SNP	0.189	A
ZIC4	84107	genome.wustl.edu	37	3	147105323	147105323	+	3'UTR	DEL	T	T	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr3:147105323delT	ENST00000383075.3	-	0	2840				ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_3'UTR|ZIC4-AS1_ENST00000462168.1_RNA|ZIC4_ENST00000525172.2_3'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CACTGTTTGATTTTTTTTTTC	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.*1323A>-	3.37:g.147105323delT			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	RNA	DEL	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			ZIC4	-	-	ENSG00000174963		0.368	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1		0.00	35	0	T			147105323	-1	tier1		no_errors	ENST00000472749	ensembl	human	known	74_37	rna	31.03	20	9	DEL	1.000	-
ZKSCAN3	80317	genome.wustl.edu	37	6	28334042	28334042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr6:28334042delA	ENST00000377255.3	+	7	1894	c.1597delA	c.(1597-1599)aaafs	p.K533fs	ZKSCAN3_ENST00000341464.5_Frame_Shift_Del_p.K385fs|ZKSCAN3_ENST00000252211.2_Frame_Shift_Del_p.K533fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	533					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CCATGTAGGGAAAAACATCCT	0.448																																																	0													105.0	104.0	104.0					6																	28334042		2203	4300	6503	SO:0001589	frameshift_variant	0			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1597delA	6.37:g.28334042delA	ENSP00000366465:p.Lys533fs		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Frame_Shift_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N534fs	ENST00000377255.3	37	c.1597	CCDS4650.1	6																																																																																			ZKSCAN3	-	pfscan_Znf_C2H2	ENSG00000189298		0.448	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3		0.00	30	0	A	NM_024493		28334042	+1	tier1		no_errors	ENST00000252211	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.206	-
ZMYM6	9204	genome.wustl.edu	37	1	35484911	35484912	+	Intron	INS	-	-	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr1:35484911_35484912insA	ENST00000357182.4	-	4	656				ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000317538.5_Frame_Shift_Ins_p.L157fs|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000373333.1_Frame_Shift_Ins_p.L157fs	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ATATACACACTAAAAAAAAGGT	0.342																																																	0																																										SO:0001627	intron_variant	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.428+41->T	1.37:g.35484919_35484919dupA			B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Frame_Shift_Ins	INS	pfam_Znf_MYM,smart_TRASH_dom	p.L157fs	ENST00000357182.4	37	c.471_470	CCDS387.2	1																																																																																			ZMYM6	-	NULL	ENSG00000163867		0.342	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1		0.00	53	0	-	NM_007167		35484912	-1	tier1		no_errors	ENST00000317538	ensembl	human	novel	74_37	frame_shift_ins	10.53	34	4	INS	0.005:0.001	A
ZNF423	23090	genome.wustl.edu	37	16	49670811	49670811	+	Missense_Mutation	SNP	C	C	T	rs143285873		TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:49670811C>T	ENST00000561648.1	-	4	2305	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H	ZNF423_ENST00000262383.2_Missense_Mutation_p.R751H|ZNF423_ENST00000562520.1_Missense_Mutation_p.R691H|ZNF423_ENST00000535559.1_Missense_Mutation_p.R634H|ZNF423_ENST00000567169.1_Missense_Mutation_p.R634H|ZNF423_ENST00000562871.1_Missense_Mutation_p.R691H|ZNF423_ENST00000563137.2_Missense_Mutation_p.R691H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	751					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCCGTGCAGCGGTACATCTT	0.592																																																	0								C	HIS/ARG	0,4396		0,0,2198	122.0	108.0	113.0		2252	5.1	1.0	16	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF423	NM_015069.2	29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	751/1285	49670811	1,12995	2198	4300	6498	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2252G>A	16.37:g.49670811C>T	ENSP00000455426:p.Arg751His		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R751H	ENST00000561648.1	37	c.2252	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220501	0.58560	0.0	1.16E-4	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10192	2.9;2.93	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.31526	0.94	0.51012	D	0.999908	D	0.55385	0.971	P	0.51833	0.681	T	0.03259	-1.1055	9	.	.	.	.	18.4141	0.90562	0.0:1.0:0.0:0.0	.	751	Q2M1K9	ZN423_HUMAN	H	751;634	ENSP00000262383:R751H;ENSP00000442321:R634H	.	R	-	2	0	ZNF423	48228312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.352000	0.79861	0.561000	0.74099	CGC	ZNF423	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102935		0.592	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0.00	23	0	C	NM_015069		49670811	-1	tier1	rs143285873	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	T
ZNF462	58499	genome.wustl.edu	37	9	109691105	109691105	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr9:109691105G>A	ENST00000277225.5	+	3	5201	c.4912G>A	c.(4912-4914)Gag>Aag	p.E1638K	ZNF462_ENST00000441147.2_Missense_Mutation_p.E483K|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1638K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1638					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACTGAGGAGGAGGTGGGAGA	0.587																																																	0													98.0	98.0	98.0					9																	109691105		2203	4300	6503	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4912G>A	9.37:g.109691105G>A	ENSP00000277225:p.Glu1638Lys		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1638K	ENST00000277225.5	37	c.4912	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765571	0.49574	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06687	3.27;3.63;3.81;3.82	5.92	5.92	0.95590	.	0.110451	0.64402	D	0.000012	T	0.07728	0.0194	N	0.17082	0.46	0.80722	D	1	P;B	0.52316	0.952;0.18	P;B	0.44811	0.461;0.037	T	0.13872	-1.0493	10	0.56958	D	0.05	.	13.1005	0.59218	0.0767:0.0:0.9233:0.0	.	1638;1638	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1638;1638;521;483	ENSP00000277225:E1638K;ENSP00000414570:E1638K;ENSP00000363818:E521K;ENSP00000397306:E483K	ENSP00000277225:E1638K	E	+	1	0	ZNF462	108730926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.078000	0.76821	2.804000	0.96469	0.655000	0.94253	GAG	ZNF462	-	NULL	ENSG00000148143		0.587	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	-	0.00	28	0	G	NM_021224		109691105	+1	tier1	-	no_errors	ENST00000457913	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A
ZNF567	163081	genome.wustl.edu	37	19	37211466	37211466	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:37211466G>A	ENST00000536254.2	+	6	2062	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	ZNF567_ENST00000588311.1_Intron|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.E583K|ZNF567_ENST00000585696.1_Missense_Mutation_p.E583K			Q8N184	ZN567_HUMAN	zinc finger protein 567	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACACAGGTGAGAAACCCTA	0.383																																																	0													55.0	59.0	57.0					19																	37211466		2203	4300	6503	SO:0001583	missense	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1840G>A	19.37:g.37211466G>A	ENSP00000441838:p.Glu614Lys		B3KX49|Q6N044	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.E614K	ENST00000536254.2	37	c.1840		19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096891	0.76870	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498	T;T	0.24350	1.86;1.86	5.12	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.151689	0.30584	N	0.009305	T	0.30293	0.0760	L	0.39020	1.185	0.80722	D	1	D	0.63046	0.992	P	0.53649	0.731	T	0.01378	-1.1370	10	0.72032	D	0.01	.	11.3897	0.49806	0.0894:0.0:0.9106:0.0	.	614	Q8N184	ZN567_HUMAN	K	614;558;583;613	ENSP00000441838:E614K;ENSP00000353957:E583K	ENSP00000353957:E583K	E	+	1	0	ZNF567	41903306	1.000000	0.71417	0.974000	0.42286	0.949000	0.60115	2.699000	0.47077	2.826000	0.97356	0.555000	0.69702	GAG	ZNF567	-	pfscan_Znf_C2H2	ENSG00000189042		0.383	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	-	0.00	46	0	G	NM_152603		37211466	+1	tier1	-	no_errors	ENST00000536254	ensembl	human	known	74_37	missense	95.56	2	43	SNP	0.996	A
ZNF850	342892	genome.wustl.edu	37	19	37241190	37241190	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:37241190C>T	ENST00000591344.1	-	5	910	c.752G>A	c.(751-753)aGa>aAa	p.R251K	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTCATGAGGTCTCTCATCTGT	0.388																																																	0																																										SO:0001583	missense	0			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.752G>A	19.37:g.37241190C>T	ENSP00000464976:p.Arg251Lys			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.R251K	ENST00000591344.1	37	c.752	CCDS59379.1	19																																																																																			ZNF850	-	pfscan_Znf_C2H2	ENSG00000267041		0.388	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	-	0.00	71	0	C	XM_001720258		37241190	-1	tier1	-	no_errors	ENST00000591344	ensembl	human	known	74_37	missense	50.00	23	23	SNP	0.319	T
ZNF628	89887	genome.wustl.edu	37	19	55992629	55992629	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr19:55992629G>T	ENST00000598519.1	+	3	622	c.69G>T	c.(67-69)gaG>gaT	p.E23D	ZNF628_ENST00000391718.2_Missense_Mutation_p.E19D			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	23					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GGGCCGGGGAGAAGCCAGGCC	0.716																																																	0													11.0	12.0	12.0					19																	55992629		2186	4262	6448	SO:0001583	missense	0			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.69G>T	19.37:g.55992629G>T	ENSP00000469591:p.Glu23Asp		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E23D	ENST00000598519.1	37	c.69	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	12.97	2.096832	0.37048	.	.	ENSG00000197483	ENST00000391718	T	0.07444	3.19	3.57	1.32	0.21799	.	0.430133	0.16450	U	0.213882	T	0.04137	0.0115	N	0.19112	0.55	0.23827	N	0.996737	B	0.32467	0.372	B	0.22880	0.042	T	0.37407	-0.9707	10	0.66056	D	0.02	-13.8775	3.8128	0.08804	0.2447:0.2021:0.5532:0.0	.	19	Q5EBL2	ZN628_HUMAN	D	19	ENSP00000375598:E19D	ENSP00000375598:E19D	E	+	3	2	ZNF628	60684441	0.801000	0.28930	0.976000	0.42696	0.630000	0.37929	0.973000	0.29422	0.302000	0.22762	0.472000	0.43445	GAG	ZNF628	-	NULL	ENSG00000197483		0.716	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	-	0.00	55	0	G	XM_058964		55992629	+1	tier1	-	no_errors	ENST00000598519	ensembl	human	known	74_37	missense	64.10	14	25	SNP	1.000	T
ZSCAN10	84891	genome.wustl.edu	37	16	3139484	3139484	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A8WC-01A-11D-A37C-09	TCGA-R6-A8WC-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	587f25b3-3dcd-4457-8960-99e298297900	2e955c1a-8b26-46fc-a05e-f2d7ac8eca8c	g.chr16:3139484G>A	ENST00000252463.2	-	5	1873	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R514C|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R257C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	596					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCTGGTGGCGCGCCAGGTGG	0.711																																																	0													19.0	21.0	20.0					16																	3139484		2196	4294	6490	SO:0001583	missense	0			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1786C>T	16.37:g.3139484G>A	ENSP00000252463:p.Arg596Cys		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R596C	ENST00000252463.2	37	c.1786	CCDS10493.1	16	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302875	0.40795	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.26660	1.72	5.34	5.34	0.76211	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000136	T	0.48390	0.1497	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.976	T	0.46176	-0.9210	10	0.56958	D	0.05	-50.4633	11.6059	0.51031	0.0:0.0:0.8221:0.1779	.	257;529;596	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	C	529;596	ENSP00000252463:R596C	ENSP00000252463:R596C	R	-	1	0	ZSCAN10	3079485	0.000000	0.05858	0.988000	0.46212	0.956000	0.61745	0.417000	0.21214	2.504000	0.84457	0.561000	0.74099	CGC	ZSCAN10	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130182		0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN10	HGNC	protein_coding	OTTHUMT00000437124.2	-	0.00	33	0	G	NM_032805		3139484	-1	tier1	-	no_errors	ENST00000252463	ensembl	human	known	74_37	missense	52.38	10	11	SNP	0.966	A
