#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
ARPC2	10109	genome.wustl.edu	37	2	219114602	219114602	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr2:219114602G>A	ENST00000295685.10	+	9	1097	c.836G>A	c.(835-837)cGc>cAc	p.R279H	ARPC2_ENST00000315717.5_Missense_Mutation_p.R279H|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	279					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GTGCTGAACCGCGCACGCCCA	0.507																																						dbGAP											0													102.0	90.0	94.0					2																	219114602		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.836G>A	2.37:g.219114602G>A	ENSP00000295685:p.Arg279His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92801|Q9P1D4	Missense_Mutation	SNP	pfam_P34-arc	p.R279H	ENST00000295685.10	37	c.836	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.783788	0.96937	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	H	0.95402	3.665	0.80722	D	1	D	0.61080	0.989	P	0.49047	0.599	D	0.87671	0.2541	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	279	O15144	ARPC2_HUMAN	H	279;279;94	.	ENSP00000295685:R279H	R	+	2	0	ARPC2	218822847	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.945000	0.63568	2.941000	0.99782	0.655000	0.94253	CGC	ARPC2	-	pfam_P34-arc	ENSG00000163466		0.507	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	185	0.00	0	G	NM_005731		219114602	219114602	+1	no_errors	ENST00000295685	ensembl	human	known	69_37n	missense	151	12.57	22	SNP	1.000	A
ATP13A1	57130	genome.wustl.edu	37	19	19762519	19762519	+	Silent	SNP	G	G	A			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr19:19762519G>A	ENST00000357324.6	-	17	2340	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L	ATP13A1_ENST00000291503.5_Silent_p.L654L|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	772						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L772L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAGGCTGCAGGATCAGCGTG	0.607																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	dbGAP											1	Substitution - coding silent(1)	lung(1)											119.0	95.0	103.0					19																	19762519		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2314C>T	19.37:g.19762519G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.L772	ENST00000357324.6	37	c.2314	CCDS32970.2	19																																																																																			ATP13A1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000105726		0.607	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	146	0.00	0	G	NM_020410		19762519	19762519	-1	no_errors	ENST00000357324	ensembl	human	known	69_37n	silent	165	19.81	41	SNP	1.000	A
BCL2L1	598	genome.wustl.edu	37	20	30309575	30309575	+	Silent	SNP	T	T	A	rs201719152		TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr20:30309575T>A	ENST00000307677.4	-	2	857	c.447A>T	c.(445-447)gcA>gcT	p.A149A	BCL2L1_ENST00000420653.1_Silent_p.A149A|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Silent_p.A149A	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	149					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CCACGCACAGTGCCCCGCCGA	0.537																																					Colon(51;693 1004 1401 20431 21026)	dbGAP											0													191.0	189.0	190.0					20																	30309575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.447A>T	20.37:g.30309575T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5L6|Q5CZ89|Q5TE65|Q92976	Silent	SNP	pfam_Bcl2_BH,pfam_Bcl2_BH4,smart_Bcl2_BH4,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,pfscan_Bcl2_BH4,prints_Apop_reg_BclX,prints_Bcl2_BH,tigrfam_Bcl2_reg	p.A149	ENST00000307677.4	37	c.447	CCDS13189.1	20																																																																																			BCL2L1	-	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH,tigrfam_Bcl2_reg	ENSG00000171552		0.537	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCL2L1	HGNC	protein_coding	OTTHUMT00000078575.1	106	0.00	0	T	NM_138578		30309575	30309575	-1	no_errors	ENST00000307677	ensembl	human	known	69_37n	silent	129	11.49	17	SNP	0.937	A
CCND3	896	genome.wustl.edu	37	6	41908208	41908208	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr6:41908208A>T	ENST00000372991.4	-	2	512	c.314T>A	c.(313-315)gTc>gAc	p.V105D	CCND3_ENST00000372987.4_Missense_Mutation_p.V55D|CCND3_ENST00000510503.1_Missense_Mutation_p.V24D|CCND3_ENST00000511642.1_Missense_Mutation_p.V24D|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.V24D	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	105	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCATGCAGACCGCACCCAG	0.627			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p21	896	cyclin D3		L	0													108.0	100.0	102.0					6																	41908208		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.314T>A	6.37:g.41908208A>T	ENSP00000362082:p.Val105Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.V105D	ENST00000372991.4	37	c.314	CCDS4863.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	22.4|22.4	4.289937|4.289937	0.80914|0.80914	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000512426|ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064;ENST00000502771	.|T;T;T;T;T;T;T	.|0.18502	.|2.21;2.21;2.21;2.21;2.21;2.21;2.21	4.26|4.26	4.26|4.26	0.50523|0.50523	.|Cyclin, N-terminal (1);Cyclin-like (3);	.|0.140377	.|0.31884	.|N	.|0.006914	T|T	0.35008|0.35008	0.0917|0.0917	M|M	0.87900|0.87900	2.915|2.915	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.996;0.997;0.993	.|D;D;P	.|0.66602	.|0.945;0.914;0.876	T|T	0.42531|0.42531	-0.9446|-0.9446	5|10	.|0.87932	.|D	.|0	.|.	13.1703|13.1703	0.59593|0.59593	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|24;105;55	.|B4E0N5;P30281;Q5T8J1	.|.;CCND3_HUMAN;.	T|D	40|105;24;55;24;24;24;24	.|ENSP00000362082:V105D;ENSP00000426212:V24D;ENSP00000362078:V55D;ENSP00000362079:V24D;ENSP00000425986:V24D;ENSP00000425830:V24D;ENSP00000425334:V24D	.|ENSP00000362078:V55D	S|V	-|-	1|2	0|0	CCND3|CCND3	42016186|42016186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.242000|4.242000	0.58714|0.58714	1.784000|1.784000	0.52394|0.52394	0.379000|0.379000	0.24179|0.24179	TCT|GTC	CCND3	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000112576		0.627	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND3	HGNC	protein_coding	OTTHUMT00000040540.2	82	0.00	0	A	NM_001760		41908208	41908208	-1	no_errors	ENST00000372991	ensembl	human	known	69_37n	missense	71	11.25	9	SNP	1.000	T
CECR2	27443	genome.wustl.edu	37	22	18022239	18022239	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr22:18022239C>T	ENST00000400585.2	+	16	2356	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	CECR2_ENST00000400573.5_Missense_Mutation_p.R781C|CECR2_ENST00000262608.8_Missense_Mutation_p.R782C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	823					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCACCAGCCTCGCACTCTCGG	0.592																																						dbGAP											0													58.0	63.0	62.0					22																	18022239		2023	4168	6191	-	-	-	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1918C>T	22.37:g.18022239C>T	ENSP00000383428:p.Arg640Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R781C	ENST00000400585.2	37	c.2341		22	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706723	0.48412	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.30714	1.62;1.62;1.52	5.29	4.27	0.50696	.	0.303339	0.25324	N	0.031487	T	0.42539	0.1207	M	0.62723	1.935	0.42441	D	0.992716	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.53185	0.549;0.72;0.72	T	0.40534	-0.9558	10	0.51188	T	0.08	-3.3087	12.5221	0.56065	0.0:0.923:0.0:0.077	.	823;640;781	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	C	640;781;782	ENSP00000383428:R640C;ENSP00000383417:R781C;ENSP00000262608:R782C	ENSP00000262608:R782C	R	+	1	0	CECR2	16402239	0.984000	0.35163	0.360000	0.25837	0.258000	0.26162	2.806000	0.47947	1.469000	0.48083	-0.291000	0.09656	CGC	CECR2	-	NULL	ENSG00000099954		0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	50	0.00	0	C	NM_031413		18022239	18022239	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	missense	44	31.25	20	SNP	0.850	T
CEP170	9859	genome.wustl.edu	37	1	243319545	243319545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr1:243319545delC	ENST00000366542.1	-	14	3940	c.3889delG	c.(3889-3891)gctfs	p.A1297fs	CEP170_ENST00000490813.1_Frame_Shift_Del_p.A23fs|CEP170_ENST00000481987.1_Frame_Shift_Del_p.A23fs|CEP170_ENST00000366544.1_Frame_Shift_Del_p.A1199fs|CEP170_ENST00000366543.1_Frame_Shift_Del_p.A1163fs	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1297	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCTCGATGAGCAGTCCAATCT	0.408																																						dbGAP											0													20.0	19.0	19.0					1																	243319545		1805	4069	5874	-	-	-	SO:0001589	frameshift_variant	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3889delG	1.37:g.243319545delC	ENSP00000355500:p.Ala1297fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Frame_Shift_Del	DEL	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.A1297fs	ENST00000366542.1	37	c.3889	CCDS44339.1	1																																																																																			CEP170	-	NULL	ENSG00000143702		0.408	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	80	0.00	0	C	NM_014812		243319545	243319545	-1	no_errors	ENST00000366542	ensembl	human	known	69_37n	frame_shift_del	72	21.28	20	DEL	1.000	-
CHD9	80205	genome.wustl.edu	37	16	53243700	53243700	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr16:53243700A>G	ENST00000398510.3	+	2	1846	c.1759A>G	c.(1759-1761)Aag>Gag	p.K587E	CHD9_ENST00000564845.1_Missense_Mutation_p.K587E|CHD9_ENST00000566029.1_Missense_Mutation_p.K587E|CHD9_ENST00000447540.1_Missense_Mutation_p.K587E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	587	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AACATGTTCTAAGTTAAAAGA	0.323																																						dbGAP											0													20.0	19.0	19.0					16																	53243700		1810	4077	5887	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1759A>G	16.37:g.53243700A>G	ENSP00000381522:p.Lys587Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K587E	ENST00000398510.3	37	c.1759		16	.	.	.	.	.	.	.	.	.	.	A	11.08	1.533378	0.27387	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.74209	-0.82;-0.82	5.76	5.76	0.90799	.	0.093010	0.45867	D	0.000324	T	0.63593	0.2524	L	0.35414	1.06	0.48975	D	0.99973	B;B;B;B;B	0.27068	0.001;0.045;0.022;0.167;0.037	B;B;B;B;B	0.33750	0.001;0.039;0.011;0.169;0.024	T	0.57969	-0.7719	10	0.13108	T	0.6	-13.0073	10.4282	0.44391	0.9276:0.0:0.0724:0.0	.	113;587;587;587;587	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	E	587;587;113	ENSP00000396345:K587E;ENSP00000381522:K587E	ENSP00000219084:K113E	K	+	1	0	CHD9	51801201	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	6.766000	0.74970	2.202000	0.70862	0.533000	0.62120	AAG	CHD9	-	NULL	ENSG00000177200		0.323	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	36	0.00	0	A	NM_025134		53243700	53243700	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	1.000	G
CX3CR1	1524	genome.wustl.edu	37	3	39307802	39307802	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr3:39307802C>G	ENST00000541347.1	-	2	438	c.199G>C	c.(199-201)Gac>Cac	p.D67H	CX3CR1_ENST00000358309.3_Missense_Mutation_p.D99H|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D67H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.D67H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	67					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGGTAAATGTCGGTGACACTC	0.483																																						dbGAP											0													161.0	162.0	162.0					3																	39307802		2014	4176	6190	-	-	-	SO:0001583	missense	0			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.199G>C	3.37:g.39307802C>G	ENSP00000439140:p.Asp67His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_fractalkine_CX3CR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.D99H	ENST00000541347.1	37	c.295	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049973	0.75846	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290;ENST00000412814	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.39	5.39	0.77823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.65320	2	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.57487	-0.7803	10	0.87932	D	0	.	11.2351	0.48936	0.0:0.9155:0.0:0.0845	.	67	P49238	CX3C1_HUMAN	H	67;75;99;67;67;67;67	ENSP00000382166:D67H;ENSP00000351059:D99H;ENSP00000439140:D67H;ENSP00000444928:D67H;ENSP00000394960:D67H;ENSP00000408835:D67H	ENSP00000351059:D99H	D	-	1	0	CX3CR1	39282806	1.000000	0.71417	0.970000	0.41538	0.948000	0.59901	5.999000	0.70665	2.538000	0.85594	0.655000	0.94253	GAC	CX3CR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	ENSG00000168329		0.483	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1	227	0.00	0	C	NM_001337		39307802	39307802	-1	no_errors	ENST00000358309	ensembl	human	known	69_37n	missense	196	17.30	41	SNP	0.998	G
DNAH1	25981	genome.wustl.edu	37	3	52420266	52420266	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr3:52420266G>A	ENST00000420323.2	+	55	8977	c.8716G>A	c.(8716-8718)Gct>Act	p.A2906T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2906	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAAGCTATTGCTGACGATGC	0.597																																						dbGAP											0													59.0	68.0	65.0					3																	52420266		2146	4249	6395	-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8716G>A	3.37:g.52420266G>A	ENSP00000401514:p.Ala2906Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.A2906T	ENST00000420323.2	37	c.8716	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286046	0.80803	.	.	ENSG00000114841	ENST00000420323	T	0.75260	-0.92	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000019	D	0.88724	0.6514	M	0.91920	3.255	0.50171	D	0.999858	D	0.71674	0.998	D	0.70227	0.968	D	0.90811	0.4701	10	0.54805	T	0.06	.	17.7664	0.88478	0.0:0.0:1.0:0.0	.	2906	C9JXH6	.	T	2906	ENSP00000401514:A2906T	ENSP00000401514:A2906T	A	+	1	0	DNAH1	52395306	1.000000	0.71417	0.903000	0.35520	0.572000	0.35998	4.715000	0.61909	2.415000	0.81967	0.563000	0.77884	GCT	DNAH1	-	NULL	ENSG00000114841		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	60	0.00	0	G	NM_015512		52420266	52420266	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	52	18.46	12	SNP	1.000	A
JAK1	3716	genome.wustl.edu	37	1	65330610	65330611	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr1:65330610_65330611insT	ENST00000342505.4	-	8	1283_1284	c.1035_1036insA	c.(1033-1038)aaactgfs	p.L346fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	346	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTATTTTCCAGTTTTTTCCGCT	0.342			Mis		ALL																																	dbGAP		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1036dupA	1.37:g.65330616_65330616dupT	ENSP00000343204:p.Leu346fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GQ2|Q9UD26	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.L345fs	ENST00000342505.4	37	c.1036_1035	CCDS41346.1	1																																																																																			JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain	ENSG00000162434		0.342	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	348	0.00	0	-	NM_002227		65330610	65330611	-1	no_errors	ENST00000342505	ensembl	human	known	69_37n	frame_shift_ins	267	16.04	51	INS	0.650:0.696	T
KCNJ10	3766	genome.wustl.edu	37	1	160012273	160012273	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr1:160012273C>G	ENST00000368089.3	-	2	276	c.50G>C	c.(49-51)aGc>aCc	p.S17T	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	17					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	TAGGGGCCGGCTTTCTGTCTG	0.537																																					GBM(167;1368 2014 14817 36425 43215)	dbGAP											0													75.0	69.0	71.0					1																	160012273		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.50G>C	1.37:g.160012273C>G	ENSP00000357068:p.Ser17Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	p.S17T	ENST00000368089.3	37	c.50	CCDS1193.1	1	.	.	.	.	.	.	.	.	.	.	C	9.508	1.105029	0.20632	.	.	ENSG00000177807	ENST00000368089	D	0.87966	-2.32	5.17	4.25	0.50352	.	0.806182	0.11769	N	0.531333	T	0.59797	0.2220	N	0.08118	0	0.37878	D	0.930288	B	0.11235	0.004	B	0.06405	0.002	T	0.46148	-0.9212	10	0.14656	T	0.56	.	13.512	0.61517	0.0:0.8421:0.1579:0.0	.	17	P78508	IRK10_HUMAN	T	17	ENSP00000357068:S17T	ENSP00000357068:S17T	S	-	2	0	KCNJ10	158278897	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.391000	0.52530	1.399000	0.46721	0.591000	0.81541	AGC	KCNJ10	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2	ENSG00000177807		0.537	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ10	HGNC	protein_coding	OTTHUMT00000060629.1	103	0.00	0	C	NM_002241		160012273	160012273	-1	no_errors	ENST00000368089	ensembl	human	known	69_37n	missense	71	20.88	19	SNP	1.000	G
FMO2	2327	genome.wustl.edu	37	1	171154975	171154975	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr1:171154975G>C	ENST00000209929.7	+	2	281	c.123G>C	c.(121-123)tgG>tgC	p.W41C	FMO2_ENST00000529935.1_Intron|FMO2_ENST00000441535.1_Missense_Mutation_p.W41C			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	41					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGGAGTGTGGAGGTTCAAAG	0.428																																						dbGAP											0													238.0	231.0	233.0					1																	171154975		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.123G>C	1.37:g.171154975G>C	ENSP00000209929:p.Trp41Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.W41C	ENST00000209929.7	37	c.123	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466039	0.84425	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.66280	-0.2;-0.2	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92538	0.6039	10	0.87932	D	0	-9.4679	18.5129	0.90923	0.0:0.0:1.0:0.0	.	41	Q99518	FMO2_HUMAN	C	41	ENSP00000209929:W41C;ENSP00000405905:W41C	ENSP00000209929:W41C	W	+	3	0	FMO2	169421599	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.347000	0.97059	2.656000	0.90262	0.655000	0.94253	TGG	FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase	ENSG00000094963		0.428	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	310	0.00	0	G	NM_001460		171154975	171154975	+1	no_errors	ENST00000209929	ensembl	human	known	69_37n	missense	214	25.77	75	SNP	1.000	C
LAMA3	3909	genome.wustl.edu	37	18	21485570	21485570	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr18:21485570C>A	ENST00000313654.9	+	52	6941	c.6700C>A	c.(6700-6702)Caa>Aaa	p.Q2234K	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2178K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q569K|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q625K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2234	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAAGATGACACAAAAGAAGCT	0.453																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6700C>A	18.37:g.21485570C>A	ENSP00000324532:p.Gln2234Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q2234K	ENST00000313654.9	37	c.6700	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498780	0.26861	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.21543	2.25;2.22;2.0	5.0	3.16	0.36331	.	.	.	.	.	T	0.24353	0.0590	M	0.72894	2.215	0.31917	N	0.613911	B;B;B;B	0.14012	0.001;0.004;0.005;0.009	B;B;B;B	0.12837	0.002;0.004;0.004;0.008	T	0.13764	-1.0497	9	0.41790	T	0.15	.	10.297	0.43629	0.2454:0.5167:0.2379:0.0	.	569;625;2178;2234	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	2234;2178;625	ENSP00000324532:Q2234K;ENSP00000382432:Q2178K;ENSP00000269217:Q625K	ENSP00000269217:Q625K	Q	+	1	0	LAMA3	19739568	0.111000	0.22076	0.904000	0.35570	0.812000	0.45895	0.373000	0.20484	0.587000	0.29643	0.655000	0.94253	CAA	LAMA3	-	NULL	ENSG00000053747		0.453	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	92	0.00	0	C	NM_000227, NM_198129		21485570	21485570	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	64	20.99	17	SNP	0.511	A
NRROS	375387	genome.wustl.edu	37	3	196387275	196387275	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr3:196387275C>T	ENST00000328557.4	+	3	964	c.761C>T	c.(760-762)aCg>aTg	p.T254M		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	254					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T254M(1)									GAGCTGGAGACGCTGGACCTG	0.632																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											71.0	72.0	72.0					3																	196387275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.761C>T	3.37:g.196387275C>T	ENSP00000328625:p.Thr254Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T254M	ENST00000328557.4	37	c.761	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406983	0.11754	.	.	ENSG00000174004	ENST00000328557	T	0.01034	5.42	5.95	-0.893	0.10567	.	0.540943	0.21192	N	0.078628	T	0.01287	0.0042	L	0.61218	1.895	0.24949	N	0.991804	B	0.26775	0.159	B	0.20955	0.032	T	0.39921	-0.9590	10	0.30854	T	0.27	.	12.5769	0.56369	0.0:0.3686:0.0:0.6314	.	254	Q86YC3	LRC33_HUMAN	M	254	ENSP00000328625:T254M	ENSP00000328625:T254M	T	+	2	0	LRRC33	197871672	0.005000	0.15991	0.034000	0.17996	0.754000	0.42855	0.186000	0.16978	-0.508000	0.06540	-0.137000	0.14449	ACG	LRRC33	-	NULL	ENSG00000174004		0.632	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC33	HGNC	protein_coding	OTTHUMT00000340676.1	50	0.00	0	C	NM_198565		196387275	196387275	+1	no_errors	ENST00000328557	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	0.074	T
MAPK4	5596	genome.wustl.edu	37	18	48256050	48256050	+	Silent	SNP	C	C	T	rs556808142	byFrequency	TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr18:48256050C>T	ENST00000400384.2	+	6	2626	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.D319D	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	530					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ccccggTGGACGGCGGCGCCA	0.736																																						dbGAP											0													9.0	10.0	9.0					18																	48256050		1784	3857	5641	-	-	-	SO:0001819	synonymous_variant	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1590C>T	18.37:g.48256050C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4C4|Q0VG04	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,prints_MAPK_ERK3/4	p.D530	ENST00000400384.2	37	c.1590	CCDS42437.1	18																																																																																			MAPK4	-	NULL	ENSG00000141639		0.736	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	13	0.00	0	C	NM_002747		48256050	48256050	+1	no_errors	ENST00000400384	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	0.048	T
MCC	4163	genome.wustl.edu	37	5	112363013	112363013	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr5:112363013C>T	ENST00000302475.4	-	17	3039	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	MCC_ENST00000408903.3_Missense_Mutation_p.E1016K|MCC_ENST00000515367.2_Missense_Mutation_p.E763K|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	826					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E1016Q(1)|p.E826Q(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGCGAAGTTTCATTGGTGTGT	0.532																																						dbGAP											2	Substitution - Missense(2)	lung(2)											224.0	199.0	208.0					5																	112363013		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2476G>A	5.37:g.112363013C>T	ENSP00000305617:p.Glu826Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.E826K	ENST00000302475.4	37	c.2476	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690824	0.88735	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.56941	1.56;1.57;0.43	5.83	5.83	0.93111	.	0.000000	0.41396	U	0.000882	T	0.62913	0.2467	N	0.24115	0.695	0.80722	D	1	D;P	0.61697	0.99;0.956	D;P	0.72982	0.979;0.899	T	0.66118	-0.6003	10	0.87932	D	0	-13.3238	20.1374	0.98035	0.0:1.0:0.0:0.0	.	1016;826	P23508-2;P23508	.;CRCM_HUMAN	K	826;763;1016	ENSP00000305617:E826K;ENSP00000421615:E763K;ENSP00000386227:E1016K	ENSP00000305617:E826K	E	-	1	0	MCC	112390912	1.000000	0.71417	0.970000	0.41538	0.837000	0.47467	5.942000	0.70203	2.763000	0.94921	0.563000	0.77884	GAA	MCC	-	NULL	ENSG00000171444		0.532	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	343	0.00	0	C	NM_001085377		112363013	112363013	-1	no_errors	ENST00000302475	ensembl	human	known	69_37n	missense	288	20.60	75	SNP	1.000	T
MVK	4598	genome.wustl.edu	37	12	110034358	110034358	+	Silent	SNP	C	C	G			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr12:110034358C>G	ENST00000228510.3	+	11	1243	c.1167C>G	c.(1165-1167)gtC>gtG	p.V389V	MVK_ENST00000539575.1_Silent_p.V337V|MVK_ENST00000539696.1_Silent_p.V108V|MVK_ENST00000392727.3_Silent_p.V337V|MVK_ENST00000541384.1_Silent_p.V195V	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	389					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						ACAGCCGAGTCCAGCAAGCCC	0.627																																						dbGAP											0													45.0	48.0	47.0					12																	110034358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.1167C>G	12.37:g.110034358C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	p.V389	ENST00000228510.3	37	c.1167	CCDS9132.1	12																																																																																			MVK	-	NULL	ENSG00000110921		0.627	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1	56	0.00	0	C	NM_000431		110034358	110034358	+1	no_errors	ENST00000228510	ensembl	human	known	69_37n	silent	42	10.42	5	SNP	0.072	G
NEB	4703	genome.wustl.edu	37	2	152425880	152425880	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr2:152425880A>C	ENST00000172853.10	-	82	12481	c.12334T>G	c.(12334-12336)Tac>Gac	p.Y4112D	NEB_ENST00000604864.1_Missense_Mutation_p.Y5813D|NEB_ENST00000409198.1_Missense_Mutation_p.Y4112D|NEB_ENST00000397345.3_Missense_Mutation_p.Y5813D|NEB_ENST00000427231.2_Missense_Mutation_p.Y5813D|NEB_ENST00000603639.1_Missense_Mutation_p.Y5813D			P20929	NEBU_HUMAN	nebulin	4112					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAGCCTTGTAAACATTCTGT	0.468																																						dbGAP											0													91.0	90.0	90.0					2																	152425880		2009	4171	6180	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12334T>G	2.37:g.152425880A>C	ENSP00000172853:p.Tyr4112Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.Y5813D	ENST00000172853.10	37	c.17437		2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589596	0.86851	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	D;D;D;D;D	0.99958	-9.03;-9.03;-9.03;-9.03;-9.03	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.95693	0.8742	10	0.87932	D	0	.	16.1237	0.81377	1.0:0.0:0.0:0.0	.	4112;543	P20929;Q14215	NEBU_HUMAN;.	D	4112;5813;5813;161;543;4112	ENSP00000386259:Y4112D;ENSP00000380505:Y5813D;ENSP00000416578:Y5813D;ENSP00000410961:Y543D;ENSP00000172853:Y4112D	ENSP00000172853:Y4112D	Y	-	1	0	NEB	152134126	1.000000	0.71417	0.990000	0.47175	0.834000	0.47266	9.061000	0.93913	2.289000	0.77006	0.533000	0.62120	TAC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.468	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		140	0.00	0	A	NM_004543		152425880	152425880	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	110	21.99	31	SNP	1.000	C
NUP155	9631	genome.wustl.edu	37	5	37327737	37327737	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr5:37327737A>T	ENST00000231498.3	-	18	2221	c.2018T>A	c.(2017-2019)aTc>aAc	p.I673N	RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000381843.2_Missense_Mutation_p.I614N|NUP155_ENST00000513532.1_Missense_Mutation_p.I673N	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	673					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTACCCCATGATCCGAGAAAA	0.373																																						dbGAP											0													84.0	77.0	80.0					5																	37327737		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2018T>A	5.37:g.37327737A>T	ENSP00000231498:p.Ile673Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.I673N	ENST00000231498.3	37	c.2018	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351986	0.82132	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.80566	-1.38;-1.39;-1.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74674	0.984;0.979	D	0.89983	0.4102	10	0.87932	D	0	.	15.2939	0.73888	1.0:0.0:0.0:0.0	.	673;673	E9PF10;O75694	.;NU155_HUMAN	N	673;614;635;673	ENSP00000231498:I673N;ENSP00000371265:I614N;ENSP00000422019:I673N	ENSP00000231498:I673N	I	-	2	0	NUP155	37363494	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.210000	0.89753	2.083000	0.62718	0.528000	0.53228	ATC	NUP155	-	NULL	ENSG00000113569		0.373	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	63	0.00	0	A	NM_153485, NM_004298		37327737	37327737	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	missense	57	15.94	11	SNP	1.000	T
OR8H1	219469	genome.wustl.edu	37	11	56058345	56058345	+	Missense_Mutation	SNP	T	T	C	rs374183508		TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr11:56058345T>C	ENST00000313022.2	-	1	221	c.194A>G	c.(193-195)cAc>cGc	p.H65R		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAATGACAAGTGAGTAAGGAA	0.423																																						dbGAP											0													264.0	252.0	256.0					11																	56058345		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.194A>G	11.37:g.56058345T>C	ENSP00000323595:p.His65Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H65R	ENST00000313022.2	37	c.194	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	T	8.837	0.941254	0.18281	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.02916	4.11	3.94	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.230003	0.31233	N	0.008008	T	0.08891	0.0220	M	0.89030	3	0.09310	N	1	P	0.44776	0.843	P	0.47981	0.563	T	0.04767	-1.0928	10	0.87932	D	0	.	7.3536	0.26706	0.0:0.1774:0.0:0.8226	.	65	Q8NGG4	OR8H1_HUMAN	R	65;61	ENSP00000323595:H65R	ENSP00000323595:H65R	H	-	2	0	OR8H1	55814921	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.631000	0.24568	1.744000	0.51775	0.445000	0.29226	CAC	OR8H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181693		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	350	0.28	1	T	NM_001005199		56058345	56058345	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	missense	312	10.26	36	SNP	0.001	C
PHF8	23133	genome.wustl.edu	37	X	54028588	54028588	+	Splice_Site	SNP	C	C	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chrX:54028588C>T	ENST00000357988.5	-	10	1607	c.1249G>A	c.(1249-1251)Ggt>Agt	p.G417S	PHF8_ENST00000338946.6_Splice_Site_p.G381S|PHF8_ENST00000338154.6_Splice_Site_p.G381S|PHF8_ENST00000322659.8_Splice_Site_p.G381S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	417					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGCTCCATACCGCGAAAGATG	0.478																																						dbGAP											0													143.0	114.0	124.0					X																	54028588		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1249+1G>A	X.37:g.54028588C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.G417S	ENST00000357988.5	37	c.1249	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.399785|4.399785	0.83120|0.83120	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|T	0.40756|0.43688	1.02;1.02;1.02;1.02|0.94	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;P|.	0.91635|.	0.999;0.996;0.998;0.855|.	T|T	0.49826|0.49826	-0.8898|-0.8898	9|6	.|.	.|.	.|.	-14.179|-14.179	15.4561|15.4561	0.75314|0.75314	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	381;381;417;417|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	S|Q	417;381;381;411;381|144	ENSP00000350676:G417S;ENSP00000338868:G381S;ENSP00000340051:G381S;ENSP00000319473:G381S|ENSP00000397129:R144Q	.|.	G|R	-|-	1|2	0|0	PHF8|PHF8	54045313|54045313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.779000|0.779000	0.44077|0.44077	7.308000|7.308000	0.78929|0.78929	2.358000|2.358000	0.79984|0.79984	0.513000|0.513000	0.50165|0.50165	GGT|CGG	PHF8	-	NULL	ENSG00000172943		0.478	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	198	0.00	0	C	NM_015107	Missense_Mutation	54028588	54028588	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	193	16.38	38	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78264525	78264525	+	Silent	SNP	C	C	T			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr17:78264525C>T	ENST00000582970.1	+	7	1412	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	RNF213_ENST00000508628.2_Silent_p.T472T|RNF213_ENST00000319921.4_Silent_p.T423T|RNF213_ENST00000456466.1_Silent_p.T423T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	423					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCACTACACCAGGTGAGCGT	0.443																																						dbGAP											0													85.0	62.0	70.0					17																	78264525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1269C>T	17.37:g.78264525C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.T423	ENST00000582970.1	37	c.1269	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.443	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	146	0.00	0	C	NM_020914		78264525	78264525	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	124	16.78	25	SNP	0.161	T
SATL1	340562	genome.wustl.edu	37	X	84348197	84348197	+	Silent	SNP	T	T	C			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chrX:84348197T>C	ENST00000395409.3	-	5	1910	c.1350A>G	c.(1348-1350)ctA>ctG	p.L450L	SATL1_ENST00000332921.5_Intron|SATL1_ENST00000509231.1_Intron			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	450	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ATACCTGACTTAGCCTCTTCA	0.294																																						dbGAP											0													88.0	67.0	73.0					X																	84348197		692	1583	2275	-	-	-	SO:0001819	synonymous_variant	0			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1350A>G	X.37:g.84348197T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK7|E9PB72|Q5H8V9	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.L450	ENST00000395409.3	37	c.1350		X																																																																																			SATL1	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000184788		0.294	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		112	0.00	0	T	XM_291339		84348197	84348197	-1	no_errors	ENST00000395409	ensembl	human	known	69_37n	silent	114	12.78	17	SNP	0.974	C
SEC24B	10427	genome.wustl.edu	37	4	110454805	110454805	+	Silent	SNP	T	T	G			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr4:110454805T>G	ENST00000265175.5	+	22	3607	c.3552T>G	c.(3550-3552)ctT>ctG	p.L1184L	SEC24B_ENST00000399100.2_Silent_p.L1149L|SEC24B_ENST00000504968.2_Silent_p.L1214L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1184					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGGATGTGCTTGGATATACTA	0.289																																						dbGAP											0													186.0	170.0	175.0					4																	110454805		1813	4069	5882	-	-	-	SO:0001819	synonymous_variant	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3552T>G	4.37:g.110454805T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.L1184	ENST00000265175.5	37	c.3552	CCDS47124.1	4																																																																																			SEC24B	-	pfam_Gelsolin_dom	ENSG00000138802		0.289	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	287	0.00	0	T			110454805	110454805	+1	no_errors	ENST00000265175	ensembl	human	known	69_37n	silent	274	12.18	38	SNP	0.788	G
TSHZ2	128553	genome.wustl.edu	37	20	51870353	51870353	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr20:51870353A>G	ENST00000371497.5	+	2	1243	c.356A>G	c.(355-357)cAc>cGc	p.H119R	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H116R|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H116R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	119					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AACGAAGCACACAATTGCATG	0.527																																						dbGAP											0													82.0	71.0	75.0					20																	51870353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.356A>G	20.37:g.51870353A>G	ENSP00000360552:p.His119Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.H119R	ENST00000371497.5	37	c.356	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	A	6.620	0.482873	0.12581	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.13420	2.59;2.59	5.7	5.7	0.88788	.	0.203583	0.53938	D	0.000059	T	0.17789	0.0427	L	0.54323	1.7	0.50813	D	0.99989	P	0.48764	0.915	B	0.42062	0.374	T	0.00950	-1.1503	10	0.52906	T	0.07	-29.6415	15.957	0.79893	1.0:0.0:0.0:0.0	.	119	Q9NRE2	TSH2_HUMAN	R	119;116	ENSP00000360552:H119R;ENSP00000333114:H116R	ENSP00000333114:H116R	H	+	2	0	TSHZ2	51303760	1.000000	0.71417	0.995000	0.50966	0.338000	0.28826	3.860000	0.55995	2.168000	0.68352	0.523000	0.50628	CAC	TSHZ2	-	NULL	ENSG00000182463		0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	73	0.00	0	A	NM_173485		51870353	51870353	+1	no_errors	ENST00000371497	ensembl	human	known	69_37n	missense	63	36.36	36	SNP	0.998	G
WWC3	55841	genome.wustl.edu	37	X	10035453	10035453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chrX:10035453delA	ENST00000380861.4	+	3	534	c.143delA	c.(142-144)cagfs	p.Q48fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.Q48fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	48					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ATTAAGCAGCAGCGGTTCGAG	0.498																																						dbGAP											0													59.0	50.0	53.0					X																	10035453		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.143delA	X.37:g.10035453delA	ENSP00000370242:p.Gln48fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Del	DEL	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.Q48fs	ENST00000380861.4	37	c.143	CCDS14136.1	X																																																																																			WWC3	-	NULL	ENSG00000047644		0.498	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	81	0.00	0	A	NM_015691		10035453	10035453	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	frame_shift_del	79	17.17	17	DEL	1.000	-
XKR5	389610	genome.wustl.edu	37	8	6668927	6668927	+	RNA	SNP	C	C	A			TCGA-D8-A145-01A-11D-A10Y-09	TCGA-D8-A145-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	af6ca646-499a-4e0a-a194-cacf72e5810b	dd892454-5f5c-492b-88ae-eb5a4c3bdb56	g.chr8:6668927C>A	ENST00000518724.1	-	0	2004							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GAGGGTTCTTCCAGGGAAGCC	0.602																																						dbGAP											0													46.0	42.0	43.0					8																	6668927		692	1591	2283	-	-	-			0			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6668927C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-	ENSG00000186530		0.602	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	86	0.00	0	C	NM_207411		6668927	6668927	-1	no_errors	ENST00000405979	ensembl	human	known	69_37n	rna	60	13.04	9	SNP	0.000	A
