#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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AGTPBP1	23287	genome.wustl.edu	37	9	88211299	88211299	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:88211299C>A	ENST00000357081.3	-	18	2545	c.2401G>T	c.(2401-2403)Ggg>Tgg	p.G801W	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.G761W|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.G813W|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	801					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATGTCAGTCCCCATACGAATC	0.343																																						dbGAP											0													62.0	61.0	62.0					9																	88211299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2401G>T	9.37:g.88211299C>A	ENSP00000349592:p.Gly801Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.G813W	ENST00000357081.3	37	c.2437		9	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645582	0.87859	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.25250	1.81;1.82;1.81	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.77975	-0.2385	10	0.87932	D	0	-14.8498	19.7839	0.96430	0.0:1.0:0.0:0.0	.	813;801;761	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	W	801;761;813	ENSP00000349592:G801W;ENSP00000365251:G761W;ENSP00000365277:G813W	ENSP00000349592:G801W	G	-	1	0	AGTPBP1	87401119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.486000	0.81215	2.756000	0.94617	0.655000	0.94253	GGG	AGTPBP1	-	NULL	ENSG00000135049		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	339	0.29	1	C	NM_015239		88211299	88211299	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	missense	203	12.88	30	SNP	1.000	A
ATL3	25923	genome.wustl.edu	37	11	63398771	63398771	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:63398771T>G	ENST00000398868.3	-	12	1556	c.1280A>C	c.(1279-1281)aAc>aCc	p.N427T	ATL3_ENST00000538786.1_Missense_Mutation_p.N409T|ATL3_ENST00000332645.4_Missense_Mutation_p.N454T	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	427					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CTTGCAGAAGTTCTCATATAA	0.488																																						dbGAP											0													130.0	128.0	129.0					11																	63398771		1922	4143	6065	-	-	-	SO:0001583	missense	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1280A>C	11.37:g.63398771T>G	ENSP00000381844:p.Asn427Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.N454T	ENST00000398868.3	37	c.1361	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	T	8.048	0.765312	0.15914	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.56444	0.46;0.46;0.46	5.51	2.96	0.34315	Guanylate-binding protein, C-terminal (3);	0.400169	0.29846	N	0.011048	T	0.45357	0.1338	L	0.60957	1.885	0.35743	D	0.818851	B	0.15719	0.014	B	0.25614	0.062	T	0.46679	-0.9174	10	0.54805	T	0.06	-10.1146	4.6348	0.12520	0.0:0.187:0.1607:0.6522	.	427	Q6DD88	ATLA3_HUMAN	T	427;454;409	ENSP00000381844:N427T;ENSP00000329034:N454T;ENSP00000437593:N409T	ENSP00000329034:N454T	N	-	2	0	ATL3	63155347	1.000000	0.71417	0.368000	0.25939	0.142000	0.21351	3.209000	0.51122	0.305000	0.22832	0.533000	0.62120	AAC	ATL3	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000184743		0.488	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1	224	0.44	1	T	NM_015459		63398771	63398771	-1	no_errors	ENST00000332645	ensembl	human	known	69_37n	missense	175	15.46	32	SNP	0.337	G
C9	735	genome.wustl.edu	37	5	39289024	39289024	+	Silent	SNP	C	C	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:39289024C>A	ENST00000263408.4	-	10	1541	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	482	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTTCATTTTCACTGGAACCA	0.323																																						dbGAP											0													84.0	83.0	84.0					5																	39289024		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1446G>T	5.37:g.39289024C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.V482	ENST00000263408.4	37	c.1446	CCDS3929.1	5																																																																																			C9	-	pfam_MACPF,smart_MACPF	ENSG00000113600		0.323	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	342	0.00	0	C			39289024	39289024	-1	no_errors	ENST00000263408	ensembl	human	known	69_37n	silent	261	14.98	46	SNP	0.958	A
CACNA1D	776	genome.wustl.edu	37	3	53844164	53844164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr3:53844164C>T	ENST00000350061.5	+	47	6542	c.6031C>T	c.(6031-6033)Cag>Tag	p.Q2011*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1987*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.Q2031*|CACNA1D_ENST00000544977.1_3'UTR	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2011					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCCTGGACCAGGTGAACGG	0.662																																						dbGAP											0													53.0	51.0	52.0					3																	53844164		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6031C>T	3.37:g.53844164C>T	ENSP00000288133:p.Gln2011*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.Q2031*	ENST00000350061.5	37	c.6091	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	46	12.920139	0.99706	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.34	5.34	0.76211	.	0.610444	0.16286	N	0.221115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0183	0.53329	0.0:0.92:0.0:0.08	.	.	.	.	X	2011;2031;1987;1704	.	ENSP00000288139:Q2031X	Q	+	1	0	CACNA1D	53819204	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.124000	0.64709	2.672000	0.90937	0.557000	0.71058	CAG	CACNA1D	-	NULL	ENSG00000157388		0.662	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	50	0.00	0	C	NM_000720		53844164	53844164	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	nonsense	20	20.00	5	SNP	1.000	T
CCDC155	147872	genome.wustl.edu	37	19	49920669	49920669	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr19:49920669C>A	ENST00000447857.3	+	20	1796	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	531	Poly-Leu.					chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CCTGGGCctgctgctgctgct	0.657																																						dbGAP											0													47.0	53.0	51.0					19																	49920669		2128	4212	6340	-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1591C>A	19.37:g.49920669C>A	ENSP00000404220:p.Leu531Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MC3	Missense_Mutation	SNP	NULL	p.L531M	ENST00000447857.3	37	c.1591	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	c	16.87	3.241274	0.58995	.	.	ENSG00000161609	ENST00000447857	T	0.59502	0.26	3.79	1.48	0.22813	.	0.000000	0.45867	D	0.000329	T	0.67458	0.2895	M	0.67953	2.075	0.24403	N	0.994699	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.54543	-0.8278	10	0.87932	D	0	-16.9385	5.6012	0.17355	0.2138:0.5465:0.2397:0.0	.	531;531	C9JGW3;Q8N6L0	.;CC155_HUMAN	M	531	ENSP00000404220:L531M	ENSP00000404220:L531M	L	+	1	2	CCDC155	54612481	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	0.833000	0.27504	0.877000	0.35895	0.450000	0.29827	CTG	CCDC155	-	NULL	ENSG00000161609		0.657	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	181	0.55	1	C	NM_144688		49920669	49920669	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	96	23.81	30	SNP	0.999	A
CDH10	1008	genome.wustl.edu	37	5	24491905	24491906	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:24491905_24491906insT	ENST00000264463.4	-	11	2162_2163	c.1655_1656insA	c.(1654-1656)aatfs	p.N552fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATTGAATCCATTTTTTCTGGT	0.356										HNSCC(23;0.051)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1656dupA	5.37:g.24491911_24491911dupT	ENSP00000264463:p.Asn552fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULB3	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N552fs	ENST00000264463.4	37	c.1656_1655	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.356	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	258	0.00	0	-	NM_006727		24491905	24491906	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	frame_shift_ins	203	17.14	42	INS	1.000:1.000	T
CDH24	64403	genome.wustl.edu	37	14	23519130	23519130	+	Silent	SNP	G	G	A	rs572219131		TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr14:23519130G>A	ENST00000267383.5	-	9	1592	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.R462R|CDH24_ENST00000487137.2_Silent_p.R462R|CDH24_ENST00000397359.3_Silent_p.R500R			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	500	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCACTTGCACGCGCGAGGCCT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		23033	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													87.0	74.0	78.0					14																	23519130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1500C>T	14.37:g.23519130G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS44|Q86UP1|Q9NT84	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R500	ENST00000267383.5	37	c.1500	CCDS9585.1	14																																																																																			CDH24	-	smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000139880		0.542	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	HGNC	protein_coding	OTTHUMT00000257241.2	50	0.00	0	G	NM_022478		23519130	23519130	-1	no_errors	ENST00000267383	ensembl	human	known	69_37n	silent	19	17.39	4	SNP	0.002	A
DCHS2	54798	genome.wustl.edu	37	4	155412464	155412464	+	Missense_Mutation	SNP	C	C	T	rs13149269	byFrequency	TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr4:155412464C>T	ENST00000339452.1	-	1	404	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	DCHS2_ENST00000456341.2_Missense_Mutation_p.R8Q|DCHS2_ENST00000443500.1_Missense_Mutation_p.R15Q	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	491					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGGAGCCCGCCGCTGCTGACG	0.672													C|||	1867	0.372804	0.3502	0.4885	5008	,	,		16047	0.1647		0.4612	False		,,,				2504	0.4448					dbGAP											0													7.0	14.0	12.0					4																	155412464		678	1559	2237	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.44G>A	4.37:g.155412464C>T	ENSP00000345062:p.Arg15Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R15Q	ENST00000339452.1	37	c.44	CCDS47150.1	4	785	0.35943223443223443	177	0.3597560975609756	173	0.47790055248618785	82	0.14335664335664336	353	0.4656992084432718	C	10.79	1.450518	0.26074	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.58506	0.33;0.38;0.39	5.35	-10.7	0.00240	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B;B	0.17268	0.021;0.021	B;B	0.08055	0.003;0.003	T	0.04607	-1.0939	7	0.18710	T	0.47	.	5.0984	0.14747	0.3583:0.1213:0.4102:0.1103	rs13149269;rs17373888	15;15	E9PG03;E9PC11	.;.	Q	15;15;8;15	ENSP00000345062:R15Q;ENSP00000408543:R8Q;ENSP00000395539:R15Q	ENSP00000345062:R15Q	R	-	2	0	DCHS2	155631914	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.236000	0.00268	-4.157000	0.00069	-2.548000	0.00178	CGG	DCHS2	-	NULL	ENSG00000197410		0.672	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	10	0.00	0	C	NM_001142552		155412464	155412464	-1	no_errors	ENST00000339452	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.000	T
DPEP1	1800	genome.wustl.edu	37	16	89702958	89702958	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr16:89702958C>T	ENST00000393092.3	+	5	679	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	DPEP1_ENST00000261615.4_Missense_Mutation_p.R130W|DPEP1_ENST00000421184.1_Missense_Mutation_p.R130W	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	130					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCAGGCCTTCCGGGAAGGGAA	0.657																																						dbGAP											0													46.0	45.0	45.0					16																	89702958		2190	4293	6483	-	-	-	SO:0001583	missense	0				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.388C>T	16.37:g.89702958C>T	ENSP00000376807:p.Arg130Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX80|Q96AK2	Missense_Mutation	SNP	pfam_Peptidase_M19	p.R130W	ENST00000393092.3	37	c.388	CCDS10982.1	16	.	.	.	.	.	.	.	.	.	.	c	16.39	3.110581	0.56398	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.24350	1.86;1.86;1.86	5.27	4.32	0.51571	.	0.848343	0.10907	N	0.620987	T	0.50137	0.1598	M	0.87682	2.9	0.30860	N	0.733617	D	0.67145	0.996	P	0.58620	0.842	T	0.55179	-0.8181	10	0.87932	D	0	-11.5838	8.9528	0.35799	0.0:0.7667:0.1505:0.0829	.	130	P16444	DPEP1_HUMAN	W	130	ENSP00000397313:R130W;ENSP00000376807:R130W;ENSP00000261615:R130W	ENSP00000261615:R130W	R	+	1	2	DPEP1	88230459	0.001000	0.12720	0.785000	0.31869	0.430000	0.31655	0.058000	0.14301	1.229000	0.43630	0.550000	0.68814	CGG	DPEP1	-	pfam_Peptidase_M19	ENSG00000015413		0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1	48	0.00	0	C	NM_001128141		89702958	89702958	+1	no_errors	ENST00000261615	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	0.746	T
GPR98	84059	genome.wustl.edu	37	5	90052933	90052933	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:90052933A>C	ENST00000405460.2	+	57	11991	c.11895A>C	c.(11893-11895)gaA>gaC	p.E3965D		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3965	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGGCCTGGAAGACTTTAAAC	0.428																																						dbGAP											0													88.0	89.0	89.0					5																	90052933		1878	4106	5984	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11895A>C	5.37:g.90052933A>C	ENSP00000384582:p.Glu3965Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E3965D	ENST00000405460.2	37	c.11895	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.90|14.90	2.674125|2.674125	0.47781|0.47781	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.28454|.	1.61|.	5.08|5.08	2.6|2.6	0.31112|0.31112	Na-Ca exchanger/integrin-beta4 (2);|.	0.250469|.	0.46758|.	D|.	0.000272|.	T|T	0.61198|0.61198	0.2328|0.2328	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	B;B|.	0.29232|.	0.153;0.238|.	B;B|.	0.31101|.	0.124;0.085|.	T|T	0.55289|0.55289	-0.8164|-0.8164	10|5	0.27082|.	T|.	0.32|.	.|.	8.8327|8.8327	0.35093|0.35093	0.7801:0.0:0.2199:0.0|0.7801:0.0:0.2199:0.0	.|.	3965;3965|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	D|T	3965|1531	ENSP00000384582:E3965D|.	ENSP00000296619:E3965D|.	E|K	+|+	3|2	2|0	GPR98|GPR98	90088689|90088689	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.952000|0.952000	0.60782|0.60782	1.051000|1.051000	0.30417|0.30417	0.329000|0.329000	0.23460|0.23460	0.383000|0.383000	0.25322|0.25322	GAA|AAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	344	0.29	1	A	NM_032119		90052933	90052933	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	209	16.73	42	SNP	1.000	C
GTPBP4	23560	genome.wustl.edu	37	10	1038429	1038429	+	Splice_Site	SNP	G	G	T			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr10:1038429G>T	ENST00000360803.4	+	2	131	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000545048.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	17					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TTAATTGCAGGACTTCATAGA	0.318																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.49-1G>T	10.37:g.1038429G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.D17Y	ENST00000360803.4	37	c.49	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137262	0.56936	.	.	ENSG00000107937	ENST00000360803	T	0.39997	1.05	5.59	4.68	0.58851	.	0.094047	0.64402	D	0.000001	T	0.69548	0.3123	M	0.89785	3.06	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	T	0.77887	-0.2420	9	.	.	.	-13.1654	16.8282	0.85937	0.0:0.1288:0.8712:0.0	.	17	Q9BZE4	NOG1_HUMAN	Y	17	ENSP00000354040:D17Y	.	D	+	1	0	GTPBP4	1028429	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	9.445000	0.97587	1.482000	0.48325	-0.182000	0.12963	GAC	GTPBP4	-	NULL	ENSG00000107937		0.318	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	359	0.00	0	G	NM_012341	Missense_Mutation	1038429	1038429	+1	no_errors	ENST00000360803	ensembl	human	known	69_37n	missense	314	19.02	74	SNP	1.000	T
MGAT5B	146664	genome.wustl.edu	37	17	74902269	74902269	+	Splice_Site	SNP	G	G	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr17:74902269G>A	ENST00000569840.2	+	8	1599	c.1025G>A	c.(1024-1026)aGt>aAt	p.S342N	MGAT5B_ENST00000301618.4_Splice_Site_p.S342N|MGAT5B_ENST00000428789.2_Splice_Site_p.S353N|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	342					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCTGCAGAGGTGAGTGCTG	0.647																																						dbGAP											0													48.0	42.0	44.0					17																	74902269		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1025+1G>A	17.37:g.74902269G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.S353N	ENST00000569840.2	37	c.1058	CCDS59299.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.71|16.71	3.198443|3.198443	0.58126|0.58126	.|.	.|.	ENSG00000167889|ENSG00000167889	ENST00000374998|ENST00000301618;ENST00000428789	.|T;T	.|0.47869	.|0.84;0.83	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.101556	.|0.64402	.|D	.|0.000001	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999987|0.999987	.|P;P	.|0.44816	.|0.844;0.728	.|B;B	.|0.41764	.|0.366;0.366	T|T	0.47699|0.47699	-0.9097|-0.9097	6|10	0.23302|0.38643	T|T	0.38|0.18	-2.5536|-2.5536	17.8862|17.8862	0.88855|0.88855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|353;342	.|Q3V5L5-2;Q3V5L5-5	.|.;.	K|N	342|342;353	.|ENSP00000301618:S342N;ENSP00000391227:S353N	ENSP00000364137:R342K|ENSP00000301618:S342N	R|S	+|+	2|2	0|0	MGAT5B|MGAT5B	72413864|72413864	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.643000|9.643000	0.98464|0.98464	2.464000|2.464000	0.83262|0.83262	0.455000|0.455000	0.32223|0.32223	AGG|AGT	MGAT5B	-	NULL	ENSG00000167889		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	51	0.00	0	G	NM_144677	Missense_Mutation	74902269	74902269	+1	no_errors	ENST00000428789	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	1.000	A
MYLK2	85366	genome.wustl.edu	37	20	30414482	30414482	+	Silent	SNP	C	C	T			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr20:30414482C>T	ENST00000375994.2	+	6	1320	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	MYLK2_ENST00000375985.4_Silent_p.I349I			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGCAGCCATCGAGACTCCGC	0.572																																						dbGAP											0													122.0	97.0	106.0					20																	30414482		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1047C>T	20.37:g.30414482C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q569L1|Q96I84	Silent	SNP	pfam_Prot_kinase_cat_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_cat_dom	p.I349	ENST00000375994.2	37	c.1047	CCDS13191.1	20																																																																																			MYLK2	-	pfam_Prot_kinase_cat_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_cat_dom	ENSG00000101306		0.572	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	159	0.00	0	C	NM_033118		30414482	30414482	+1	no_errors	ENST00000375985	ensembl	human	known	69_37n	silent	159	14.97	28	SNP	0.840	T
NBPF22P	285622	genome.wustl.edu	37	5	85582741	85582741	+	RNA	SNP	G	G	C			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr5:85582741G>C	ENST00000590707.1	+	0	733					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		AGAGGAGGTAGAAGACCAAAG	0.413																																						dbGAP											0																																										-	-	-			0			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85582741G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-	ENSG00000205449		0.413	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	746	0.00	0	G	XM_208333		85582741	85582741	+1	no_errors	ENST00000590707	ensembl	human	known	69_37n	rna	313	37.94	192	SNP	0.000	C
NHSL2	340527	genome.wustl.edu	37	X	71359966	71359968	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chrX:71359966_71359968delAGA	ENST00000373677.1	+	2	2732_2734	c.1470_1472delAGA	c.(1468-1473)gcagaa>gca	p.E492del	NHSL2_ENST00000510661.1_In_Frame_Del_p.E627del|NHSL2_ENST00000540800.1_In_Frame_Del_p.E858del|NHSL2_ENST00000535692.1_In_Frame_Del_p.E492del			Q5HYW2	NHSL2_HUMAN	NHS-like 2	492										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AACCCAGAGCAGAAGAAGTCTTC	0.557																																						dbGAP											0										0,3721		0,0,0,1592,537						3.7	0.2			53	2,6482		0,1,1,2356,1769	no	coding	NHSL2	NM_001013627.2		0,1,1,3948,2306	A1A1,A1R,A1,RR,R		0.0308,0.0,0.0196				2,10203				-	-	-	SO:0001651	inframe_deletion	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1470_1472delAGA	X.37:g.71359969_71359971delAGA	ENSP00000362781:p.Glu492del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN94	In_Frame_Del	DEL	NULL	p.E858in_frame_del	ENST00000373677.1	37	c.2568_2570		X																																																																																			NHSL2	-	NULL	ENSG00000204131		0.557	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	200	0.00	0	AGA	NM_001013627		71359966	71359968	+1	no_errors	ENST00000540800	ensembl	human	known	69_37n	in_frame_del	150	12.79	22	DEL	0.005:0.010:0.004	-
NPAS4	266743	genome.wustl.edu	37	11	66192244	66192244	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:66192244A>G	ENST00000311034.2	+	7	2059	c.1883A>G	c.(1882-1884)gAg>gGg	p.E628G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	628					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTGAAAAGGAGCAGAATGAG	0.582																																						dbGAP											0													114.0	117.0	116.0					11																	66192244		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1883A>G	11.37:g.66192244A>G	ENSP00000311196:p.Glu628Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.E628G	ENST00000311034.2	37	c.1883	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	A	10.74	1.434337	0.25813	.	.	ENSG00000174576	ENST00000311034	T	0.63744	-0.06	4.39	3.21	0.36854	.	0.349677	0.24693	N	0.036370	T	0.47911	0.1471	L	0.29908	0.895	0.42153	D	0.991569	B	0.26635	0.155	B	0.25405	0.06	T	0.47548	-0.9109	10	0.72032	D	0.01	-2.0052	9.2769	0.37705	0.818:0.182:0.0:0.0	.	628	Q8IUM7	NPAS4_HUMAN	G	628	ENSP00000311196:E628G	ENSP00000311196:E628G	E	+	2	0	NPAS4	65948820	1.000000	0.71417	0.996000	0.52242	0.619000	0.37552	5.808000	0.69165	0.783000	0.33636	0.533000	0.62120	GAG	NPAS4	-	NULL	ENSG00000174576		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	37	0.00	0	A	NM_178864		66192244	66192244	+1	no_errors	ENST00000311034	ensembl	human	known	69_37n	missense	46	46.51	40	SNP	1.000	G
OR14C36	127066	genome.wustl.edu	37	1	248512348	248512348	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr1:248512348C>A	ENST00000317861.1	+	1	272	c.272C>A	c.(271-273)tCt>tAt	p.S91Y		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ACCACCATTTCTAAGGCGGGA	0.463																																						dbGAP											0													111.0	97.0	102.0					1																	248512348		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.272C>A	1.37:g.248512348C>A	ENSP00000324534:p.Ser91Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S91Y	ENST00000317861.1	37	c.272	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543442	0.65198	.	.	ENSG00000177174	ENST00000317861	T	0.01347	4.99	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	N	0.001102	T	0.12220	0.0297	H	0.96015	3.755	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08722	-1.0708	10	0.87932	D	0	.	9.6898	0.40120	0.0:0.9008:0.0:0.0992	.	91	Q8NHC7	O14CZ_HUMAN	Y	91	ENSP00000324534:S91Y	ENSP00000324534:S91Y	S	+	2	0	OR14C36	246578971	0.001000	0.12720	0.164000	0.22755	0.684000	0.39900	1.273000	0.33121	2.054000	0.61138	0.395000	0.25975	TCT	OR14C36	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177174		0.463	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	212	0.00	0	C	NM_001001918		248512348	248512348	+1	no_errors	ENST00000317861	ensembl	human	known	69_37n	missense	234	14.60	40	SNP	0.310	A
PDHB	5162	genome.wustl.edu	37	3	58413894	58413894	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr3:58413894T>G	ENST00000302746.6	-	10	989	c.947A>C	c.(946-948)aAt>aCt	p.N316T	PDHB_ENST00000474765.1_Missense_Mutation_p.Q338H|RP11-802O23.3_ENST00000607214.1_RNA|PDHB_ENST00000485460.1_Missense_Mutation_p.N298T	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	316					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	ATCCAGGAAATTGAACGCAGG	0.512																																						dbGAP											0													62.0	57.0	59.0					3																	58413894		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.947A>C	3.37:g.58413894T>G	ENSP00000307241:p.Asn316Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.N316T	ENST00000302746.6	37	c.947	CCDS2890.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.96|17.96	3.515208|3.515208	0.64634|0.64634	.|.	.|.	ENSG00000168291|ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460|ENST00000474765	D;D;D|D	0.90133|0.96396	-2.62;-2.62;-2.62|-4.0	6.16|6.16	4.99|4.99	0.66335|0.66335	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);|.	0.079288|.	0.85682|.	D|.	0.000000|.	D|D	0.94843|0.94843	0.8334|0.8334	L|L	0.31207|0.31207	0.915|0.915	0.30048|0.30048	N|N	0.812015|0.812015	B;B;B|D	0.31174|0.56521	0.001;0.004;0.311|0.976	B;B;B|P	0.34385|0.51016	0.01;0.01;0.181|0.656	D|D	0.91885|0.91885	0.5519|0.5519	10|9	0.87932|0.56958	D|D	0|0.05	-17.8642|-17.8642	13.6588|13.6588	0.62354|0.62354	0.0:0.0:0.1291:0.8709|0.0:0.0:0.1291:0.8709	.|.	298;298;316|338	B4DDD7;P11177-2;P11177|C9J634	.;.;ODPB_HUMAN|.	T|H	316;298;298|338	ENSP00000307241:N316T;ENSP00000373220:N298T;ENSP00000417267:N298T|ENSP00000418448:Q338H	ENSP00000307241:N316T|ENSP00000418448:Q338H	N|Q	-|-	2|3	0|2	PDHB|PDHB	58388934|58388934	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	7.665000|7.665000	0.83852|0.83852	1.127000|1.127000	0.42034|0.42034	0.528000|0.528000	0.53228|0.53228	AAT|CAA	PDHB	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred	ENSG00000168291		0.512	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHB	HGNC	protein_coding	OTTHUMT00000353558.1	144	0.00	0	T			58413894	58413894	-1	no_errors	ENST00000302746	ensembl	human	known	69_37n	missense	90	31.82	42	SNP	1.000	G
PPP2R5B	5526	genome.wustl.edu	37	11	64699064	64699064	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:64699064A>G	ENST00000164133.2	+	10	1601	c.979A>G	c.(979-981)Acc>Gcc	p.T327A		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	327					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTGGCCAAAAACCTGCACCCA	0.587																																						dbGAP											0													40.0	38.0	39.0					11																	64699064		2201	4297	6498	-	-	-	SO:0001583	missense	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.979A>G	11.37:g.64699064A>G	ENSP00000164133:p.Thr327Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.T327A	ENST00000164133.2	37	c.979	CCDS8085.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.503680|4.503680	0.85176|0.85176	.|.	.|.	ENSG00000068971|ENSG00000068971	ENST00000359279|ENST00000164133;ENST00000527441	.|.	.|.	.|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79161|0.79161	0.4399|0.4399	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|P	.|0.51653	.|0.947	.|P	.|0.59171	.|0.853	D|D	0.83661|0.83661	0.0161|0.0161	6|9	0.46703|0.87932	T|D	0.11|0	-27.8238|-27.8238	12.1357|12.1357	0.53970|0.53970	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|327	.|Q15173	.|2A5B_HUMAN	S|A	352|327	.|.	ENSP00000352225:N352S|ENSP00000164133:T327A	N|T	+|+	2|1	0|0	PPP2R5B|PPP2R5B	64455640|64455640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.647000|8.647000	0.91057|0.91057	2.030000|2.030000	0.59900|0.59900	0.379000|0.379000	0.24179|0.24179	AAC|ACC	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.587	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	85	0.00	0	A	NM_006244		64699064	64699064	+1	no_errors	ENST00000164133	ensembl	human	known	69_37n	missense	85	11.00	11	SNP	1.000	G
PTPRD	5789	genome.wustl.edu	37	9	8500901	8500901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:8500901C>A	ENST00000381196.4	-	21	2524	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*	PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E648*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E648*|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E661*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E661*|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	661	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCAAAATCTCGTGAGGCTTG	0.463										TSP Lung(15;0.13)																												dbGAP											0													244.0	233.0	237.0					9																	8500901		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1981G>T	9.37:g.8500901C>A	ENSP00000370593:p.Glu661*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.E661*	ENST00000381196.4	37	c.1981	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.526181	0.98850	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	.	.	.	5.64	5.64	0.86602	.	0.110860	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7063	0.96072	0.0:1.0:0.0:0.0	.	.	.	.	X	661;661;648;648;661	.	.	E	-	1	0	PTPRD	8490901	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.849000	0.48286	2.644000	0.89710	0.561000	0.74099	GAG	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	586	0.00	0	C			8500901	8500901	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	nonsense	337	19.38	81	SNP	1.000	A
PRRC2B	84726	genome.wustl.edu	37	9	134362560	134362560	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:134362560G>A	ENST00000357304.4	+	26	5918	c.5863G>A	c.(5863-5865)Gct>Act	p.A1955T	PRRC2B_ENST00000458550.1_Missense_Mutation_p.A1261T|PRRC2B_ENST00000372249.1_Missense_Mutation_p.A52T|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A1261T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1955	Poly-Ala.						poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACAGGCCGCCGCTGCCCAGCA	0.632																																						dbGAP											0													37.0	41.0	40.0					9																	134362560		2042	4184	6226	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5863G>A	9.37:g.134362560G>A	ENSP00000349856:p.Ala1955Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.A1955T	ENST00000357304.4	37	c.5863	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864267	0.51482	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	T;T;T	0.04083	3.71;4.09;3.71	5.18	4.27	0.50696	.	0.192350	0.24318	N	0.039564	T	0.05502	0.0145	L	0.48642	1.525	0.47094	D	0.999316	B;B	0.29188	0.032;0.236	B;B	0.20767	0.015;0.031	T	0.36672	-0.9738	10	0.35671	T	0.21	-19.3793	11.9297	0.52839	0.0854:0.0:0.9146:0.0	.	1261;1955	Q5JSZ5-5;Q5JSZ5	.;PRC2B_HUMAN	T	1261;1955;1261;52	ENSP00000384606:A1261T;ENSP00000349856:A1955T;ENSP00000398853:A1261T	ENSP00000349856:A1955T	A	+	1	0	PRRC2B	133352381	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.079000	0.64431	1.145000	0.42336	0.561000	0.74099	GCT	PRRC2B	-	NULL	ENSG00000130723		0.632	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		66	0.00	0	G			134362560	134362560	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	36	28.00	14	SNP	0.995	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220359016	220359016	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr1:220359016A>G	ENST00000358951.2	-	18	1963	c.1847T>C	c.(1846-1848)tTa>tCa	p.L616S		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	616					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGTGTCCATTAAAGTCTGAGT	0.333																																						dbGAP											0													104.0	100.0	101.0					1																	220359016		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1847T>C	1.37:g.220359016A>G	ENSP00000351832:p.Leu616Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L616S	ENST00000358951.2	37	c.1847	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904599	0.52333	.	.	ENSG00000118873	ENST00000358951	T	0.37584	1.19	5.75	4.6	0.57074	.	0.227158	0.34932	N	0.003561	T	0.34542	0.0901	L	0.50333	1.59	0.39077	D	0.960827	B	0.13594	0.008	B	0.21546	0.035	T	0.16364	-1.0405	10	0.52906	T	0.07	.	11.9787	0.53107	0.9317:0.0:0.0683:0.0	.	616	Q9H2M9	RBGPR_HUMAN	S	616	ENSP00000351832:L616S	ENSP00000351832:L616S	L	-	2	0	RAB3GAP2	218425639	0.943000	0.32029	0.707000	0.30419	0.998000	0.95712	6.139000	0.71728	0.960000	0.38005	0.528000	0.53228	TTA	RAB3GAP2	-	NULL	ENSG00000118873		0.333	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	499	0.00	0	A	NM_012414		220359016	220359016	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	416	16.93	85	SNP	0.560	G
SCAI	286205	genome.wustl.edu	37	9	127781175	127781175	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr9:127781175C>T	ENST00000336505.6	-	9	822	c.764G>A	c.(763-765)cGc>cAc	p.R255H	SCAI_ENST00000373549.4_Missense_Mutation_p.R278H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	255					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCAGCAAGGCGATTCGATGT	0.403																																						dbGAP											0													101.0	98.0	99.0					9																	127781175		1955	4143	6098	-	-	-	SO:0001583	missense	0			AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.764G>A	9.37:g.127781175C>T	ENSP00000336756:p.Arg255His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	pfam_DUF3550,pirsf_UCP013022	p.R278H	ENST00000336505.6	37	c.833	CCDS48017.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.266925	0.95399	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.48201	0.82;0.82	5.31	5.31	0.75309	.	0.226264	0.45126	D	0.000385	T	0.70561	0.3238	M	0.78049	2.395	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.989	T	0.74362	-0.3690	10	0.72032	D	0.01	-6.6849	17.9627	0.89090	0.0:1.0:0.0:0.0	.	255;278	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	H	255;278	ENSP00000336756:R255H;ENSP00000362650:R278H	ENSP00000336756:R255H	R	-	2	0	SCAI	126820996	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.398000	0.79919	2.489000	0.83994	0.561000	0.74099	CGC	SCAI	-	pfam_DUF3550,pirsf_UCP013022	ENSG00000173611		0.403	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAI	HGNC	protein_coding	OTTHUMT00000054055.3	328	0.00	0	C	NM_173690		127781175	127781175	-1	no_errors	ENST00000373549	ensembl	human	known	69_37n	missense	126	40.57	86	SNP	1.000	T
SCN1A	6323	genome.wustl.edu	37	2	166854657	166854657	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr2:166854657C>T	ENST00000303395.4	-	23	4366	c.4367G>A	c.(4366-4368)aGt>aAt	p.S1456N	SCN1A_ENST00000409050.1_Missense_Mutation_p.S1428N|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1456N|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1445N|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1456					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTACAGACTTTCTTCATA	0.358																																						dbGAP											0													89.0	81.0	83.0					2																	166854657		2203	4294	6497	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4367G>A	2.37:g.166854657C>T	ENSP00000303540:p.Ser1456Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.S1456N	ENST00000303395.4	37	c.4367	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	7.458	0.644152	0.14451	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.29	4.29	0.51040	Ion transport (1);	0.053637	0.64402	D	0.000002	D	0.88183	0.6368	N	0.01405	-0.89	0.40537	D	0.980987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.001	D	0.83602	0.0129	10	0.02654	T	1	.	3.4514	0.07499	0.0:0.6229:0.0:0.3771	.	1445;1428;1456	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	1456;1456;1445;1428	ENSP00000407030:S1456N;ENSP00000303540:S1456N;ENSP00000364554:S1445N;ENSP00000386312:S1428N	ENSP00000303540:S1456N	S	-	2	0	SCN1A	166562903	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.047000	0.64232	2.461000	0.83175	0.460000	0.39030	AGT	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	387	0.00	0	C	NM_006920		166854657	166854657	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	251	30.66	111	SNP	1.000	T
SLC37A1	54020	genome.wustl.edu	37	21	43984830	43984831	+	Frame_Shift_Ins	INS	-	-	AG	rs138613912	byFrequency	TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr21:43984830_43984831insAG	ENST00000352133.2	+	14	2130_2131	c.1148_1149insAG	c.(1147-1152)gcaggtfs	p.G384fs	AP001625.6_ENST00000442605.1_RNA|SLC37A1_ENST00000398341.3_Frame_Shift_Ins_p.G384fs			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	384					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGGATCCTGGCAGGTGTGATCT	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1149_1150dupAG	21.37:g.43984831_43984832dupAG	ENSP00000344648:p.Gly384fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSJ7|Q9HAQ1	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G384fs	ENST00000352133.2	37	c.1148_1149	CCDS13689.1	21																																																																																			SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000160190		0.673	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	68	0.00	0	-			43984830	43984831	+1	no_errors	ENST00000352133	ensembl	human	known	69_37n	frame_shift_ins	35	12.50	5	INS	1.000:0.864	AG
TBC1D8B	54885	genome.wustl.edu	37	X	106069421	106069421	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chrX:106069421C>A	ENST00000357242.5	+	6	1163	c.989C>A	c.(988-990)gCt>gAt	p.A330D	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.A330D|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.A330D|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A330D	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	330	GRAM 2.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCTGCTTTGCTAGCCAAGAT	0.353																																						dbGAP											0													102.0	97.0	98.0					X																	106069421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.989C>A	X.37:g.106069421C>A	ENSP00000349781:p.Ala330Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.A330D	ENST00000357242.5	37	c.989	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384653	0.82792	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.81	5.81	0.92471	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.92734	0.7690	M	0.71296	2.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;0.999	D	0.91288	0.5057	10	0.31617	T	0.26	-5.2762	17.4268	0.87528	0.0:1.0:0.0:0.0	.	330;330;330	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	D	330	ENSP00000349781:A330D;ENSP00000310675:A330D;ENSP00000421375:A330D;ENSP00000276175:A330D	ENSP00000276175:A330D	A	+	2	0	TBC1D8B	105956077	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.434000	0.82447	0.513000	0.50165	GCT	TBC1D8B	-	pfam_GRAM,smart_GRAM	ENSG00000133138		0.353	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	261	0.37	1	C	NM_017752		106069421	106069421	+1	no_errors	ENST00000357242	ensembl	human	known	69_37n	missense	187	14.80	33	SNP	1.000	A
TREM1	54210	genome.wustl.edu	37	6	41243963	41243963	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr6:41243963G>A	ENST00000244709.4	-	4	668	c.605C>T	c.(604-606)cCg>cTg	p.P202L	TREM1_ENST00000589614.1_Intron|TREM1_ENST00000334475.6_Missense_Mutation_p.R138W	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	202					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GTTGAACACCGGAACCCTGCG	0.527																																						dbGAP											0													136.0	114.0	122.0					6																	41243963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.605C>T	6.37:g.41243963G>A	ENSP00000244709:p.Pro202Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub	p.P202L	ENST00000244709.4	37	c.605	CCDS4854.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.11|12.11	1.840028|1.840028	0.32513|0.32513	.|.	.|.	ENSG00000124731|ENSG00000124731	ENST00000244709|ENST00000334475	T|T	0.08370|0.12984	3.1|2.63	4.86|4.86	3.98|3.98	0.46160|0.46160	.|.	0.811288|.	0.10454|.	N|.	0.672746|.	T|T	0.04182|0.04182	0.0116|0.0116	.|.	.|.	.|.	0.21355|0.21355	N|N	0.999711|0.999711	D|B	0.53619|0.28291	0.961|0.206	B|B	0.42771|0.14023	0.397|0.01	T|T	0.30736|0.30736	-0.9968|-0.9968	9|8	0.66056|0.66056	D|D	0.02|0.02	-0.6257|-0.6257	11.4729|11.4729	0.50280|0.50280	0.0:0.1804:0.8196:0.0|0.0:0.1804:0.8196:0.0	.|.	202|138	Q9NP99|Q9NP99-2	TREM1_HUMAN|.	L|W	202|138	ENSP00000244709:P202L|ENSP00000334284:R138W	ENSP00000244709:P202L|ENSP00000334284:R138W	P|R	-|-	2|1	0|2	TREM1|TREM1	41351941|41351941	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.076000|0.076000	0.17211|0.17211	0.979000|0.979000	0.29500|0.29500	1.380000|1.380000	0.46344|0.46344	0.655000|0.655000	0.94253|0.94253	CCG|CGG	TREM1	-	NULL	ENSG00000124731		0.527	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM1	HGNC	protein_coding	OTTHUMT00000040505.2	310	0.00	0	G	NM_018643		41243963	41243963	-1	no_errors	ENST00000244709	ensembl	human	known	69_37n	missense	233	14.96	41	SNP	0.003	A
TUB	7275	genome.wustl.edu	37	11	8122413	8122413	+	Missense_Mutation	SNP	C	C	T	rs184649891	byFrequency	TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr11:8122413C>T	ENST00000299506.2	+	11	1405	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	TUB_ENST00000305253.4_Missense_Mutation_p.T474M|TUB_ENST00000534099.1_Missense_Mutation_p.T425M	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	419					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AATAAGAACACGGAGAGTATC	0.562													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20596	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													153.0	135.0	141.0					11																	8122413		2201	4296	6497	-	-	-	SO:0001583	missense	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1256C>T	11.37:g.8122413C>T	ENSP00000299506:p.Thr419Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.T474M	ENST00000299506.2	37	c.1421	CCDS7787.1	11	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	8.745	0.919871	0.17982	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96232	-3.95;-3.95;-3.95	5.19	5.19	0.71726	Tubby, C-terminal (3);	0.044394	0.85682	D	0.000000	D	0.89396	0.6703	N	0.04820	-0.15	0.80722	D	1	B;B;B	0.26120	0.104;0.093;0.142	B;B;B	0.22601	0.04;0.022;0.023	D	0.86477	0.1789	10	0.05620	T	0.96	-12.2626	19.0496	0.93038	0.0:1.0:0.0:0.0	.	425;419;474	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	M	425;474;419	ENSP00000434400:T425M;ENSP00000305426:T474M;ENSP00000299506:T419M	ENSP00000299506:T419M	T	+	2	0	TUB	8078989	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	4.039000	0.57325	2.593000	0.87608	0.655000	0.94253	ACG	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like	ENSG00000166402		0.562	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	165	0.00	0	C	NM_003320		8122413	8122413	+1	no_errors	ENST00000305253	ensembl	human	known	69_37n	missense	125	13.61	20	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54224848	54224848	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chrX:54224848G>A	ENST00000375159.2	-	23	5311	c.5312C>T	c.(5311-5313)tCt>tTt	p.S1771F	WNK3_ENST00000354646.2_Missense_Mutation_p.S1771F|WNK3_ENST00000375169.3_Missense_Mutation_p.S1714F			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1771					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGGTCCCCCAGATTGGGCGGG	0.493																																						dbGAP											0													85.0	71.0	76.0					X																	54224848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.5312C>T	X.37:g.54224848G>A	ENSP00000364301:p.Ser1771Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1771F	ENST00000375159.2	37	c.5312	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694379	0.48202	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.33865	1.39;1.39;1.39	5.45	4.58	0.56647	.	0.932048	0.09012	N	0.861371	T	0.35624	0.0938	N	0.24115	0.695	0.21675	N	0.999599	P;P	0.48016	0.904;0.845	P;B	0.51135	0.66;0.365	T	0.18429	-1.0337	10	0.72032	D	0.01	0.0155	7.8229	0.29298	0.0877:0.0:0.7538:0.1585	.	1714;1771	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	F	1714;1771;1771	ENSP00000364312:S1714F;ENSP00000346667:S1771F;ENSP00000364301:S1771F	ENSP00000346667:S1771F	S	-	2	0	WNK3	54241573	0.970000	0.33590	0.947000	0.38551	0.988000	0.76386	2.508000	0.45450	2.273000	0.75805	0.513000	0.50165	TCT	WNK3	-	NULL	ENSG00000196632		0.493	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	304	0.00	0	G	NM_020922		54224848	54224848	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	209	28.18	82	SNP	0.693	A
ZAK	51776	genome.wustl.edu	37	2	174131293	174131293	+	Missense_Mutation	SNP	C	C	T	rs56202258		TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr2:174131293C>T	ENST00000375213.3	+	20	2296	c.2218C>T	c.(2218-2220)Ccc>Tcc	p.P740S	MLTK_ENST00000409176.2_Missense_Mutation_p.P740S|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		740			P -> T (in dbSNP:rs56202258). {ECO:0000269|PubMed:17344846}.		activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CCTCCACCAACCCAACACCAT	0.527																																						dbGAP											0													59.0	63.0	62.0					2																	174131293		1936	4132	6068	-	-	-	SO:0001583	missense	0																														ENST00000375213.3:c.2218C>T	2.37:g.174131293C>T	ENSP00000364361:p.Pro740Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P740S	ENST00000375213.3	37	c.2218	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936797	0.34189	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74315	-0.83;-0.83	5.94	3.13	0.36017	.	0.111376	0.64402	N	0.000007	T	0.60340	0.2261	L	0.32530	0.975	0.80722	D	1	B	0.21071	0.051	B	0.16722	0.016	T	0.57183	-0.7855	10	0.62326	D	0.03	.	6.9201	0.24383	0.2451:0.6249:0.0:0.13	.	740	Q9NYL2	MLTK_HUMAN	S	740	ENSP00000387259:P740S;ENSP00000364361:P740S	ENSP00000364361:P740S	P	+	1	0	AC013461.1	173839539	0.653000	0.27358	0.505000	0.27651	0.561000	0.35649	1.805000	0.38883	0.827000	0.34685	0.591000	0.81541	CCC	AC013461.1	-	NULL	ENSG00000091436		0.527	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Clone_based_vega_gene	protein_coding	OTTHUMT00000255401.1	92	0.00	0	C			174131293	174131293	+1	no_errors	ENST00000375213	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	0.695	T
ZNF10	7556	genome.wustl.edu	37	12	133733175	133733175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E2-A15A-06A-11D-A12B-09	TCGA-E2-A15A-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9e666ddd-a365-48e4-950d-709a0ecc78a9	e33c2754-8dec-4bab-b626-1886a5756536	g.chr12:133733175delT	ENST00000248211.6	+	5	1565	c.1343delT	c.(1342-1344)cttfs	p.L448fs	ZNF10_ENST00000426665.2_Frame_Shift_Del_p.L448fs|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Frame_Shift_Del_p.L314fs|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	448					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(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGCTCTCACCTTTATTCACAT	0.413																																						dbGAP											0													104.0	110.0	108.0					12																	133733175		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1343delT	12.37:g.133733175delT	ENSP00000248211:p.Leu448fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS1|Q8TC91	Frame_Shift_Del	DEL	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.Y449fs	ENST00000248211.6	37	c.1343	CCDS9283.1	12																																																																																			ZNF10	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256223		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1	238	0.00	0	T	NM_015394		133733175	133733175	+1	no_errors	ENST00000248211	ensembl	human	known	69_37n	frame_shift_del	157	23.58	50	DEL	0.989	-
