#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
RAET1K	646024	genome.wustl.edu	37	6	150322199	150322199	+	RNA	SNP	A	A	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr6:150322199A>T	ENST00000533735.1	-	0	677					NR_024045.1				retinoic acid early transcript 1K pseudogene																		AGGAACTGCCAAGATCCTCTG	0.498																																																	0								ENSG00000218358																																			RAET1K			0			-	HGNC	AF425244		6q25.1	2012-01-10			ENSG00000218358	ENSG00000218358			16797	pseudogene	pseudogene						11827464	Standard	NR_024045		Approved		uc003qnq.3		OTTHUMG00000015815		6.37:g.150322199A>T		Somatic	0	32	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000533735.1	37	NULL		6																																																																																			-	-		0.498	RAET1K-002	KNOWN	basic	processed_transcript	RAET1K	pseudogene	OTTHUMT00000390882.1	A		-		150322199	-1	no_errors	ENST00000533735	ensembl	human	known	74_37	rna	SNP	0.068	T
CYLC2	1539	genome.wustl.edu	37	9	105767654	105767654	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr9:105767654delA	ENST00000374798.3	+	5	811	c.741delA	c.(739-741)ggafs	p.G247fs	CYLC2_ENST00000487798.1_Frame_Shift_Del_p.G247fs	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	247	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATGAGGATGGAAAAAAAGATG	0.363																																																	0								ENSG00000155833						111.0	106.0	108.0					9																	105767654		2203	4300	6503	CYLC2	SO:0001589	frameshift_variant	0				HGNC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.741delA	9.37:g.105767654delA	ENSP00000420256:p.Gly247fs	Somatic	0	29	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B2R8F4|Q5VVJ9	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.D250fs	ENST00000374798.3	37	c.741	CCDS35085.1	9																																																																																			-	NULL		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	protein_coding	OTTHUMT00000053463.3	A	NM_001340			105767654	+1	no_errors	ENST00000374798	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
TM4SF1	4071	genome.wustl.edu	37	3	149093481	149093482	+	Frame_Shift_Del	DEL	CA	CA	-	rs145699705		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr3:149093481_149093482delCA	ENST00000305366.3	-	2	569_570	c.252_253delTG	c.(250-255)tgtggcfs	p.CG84fs	TM4SF1_ENST00000472441.1_5'UTR|TM4SF1-AS1_ENST00000484046.1_RNA|TM4SF1-AS1_ENST00000496491.1_RNA	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	84						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CATCGTTTGCCACAGTTTTCAT	0.515																																																	0								ENSG00000169908																																			TM4SF1	SO:0001589	frameshift_variant	0				HGNC	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.252_253delTG	3.37:g.149093483_149093484delCA	ENSP00000304277:p.Cys84fs	Somatic	0	32	0.00		0.4955629421895401	14	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	10	64.29	Q6IB51	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_L6_membrane	p.C84fs	ENST00000305366.3	37	c.253_252	CCDS3143.1	3																																																																																			-	pfam_L6_membrane		0.515	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF1	protein_coding	OTTHUMT00000356368.1	CA				149093482	-1	no_errors	ENST00000305366	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:0.919	-
ANKRD42	338699	genome.wustl.edu	37	11	82921150	82921151	+	Intron	INS	-	-	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:82921150_82921151insA	ENST00000393392.2	+	4	408				ANKRD42_ENST00000531895.1_Intron|ANKRD42_ENST00000533342.1_Intron|ANKRD42_ENST00000393389.3_Intron|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000526731.1_Intron|ANKRD42_ENST00000260047.6_Intron|ANKRD42_ENST00000528722.1_Intron	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42						positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTTTGTAATCTAAAAAAAAAAA	0.277																																																	0								ENSG00000254551																																			RP11-727A23.7	SO:0001627	intron_variant	0				Clone_based_vega_gene	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.247-191->A	11.37:g.82921161_82921161dupA		Somatic	0	33	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04	Q49A49	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000393392.2	37	c.NULL	CCDS8265.1	11																																																																																			-	-		0.277	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ENSG00000254551	protein_coding	OTTHUMT00000392934.1	-	NM_182603			82921151	-1	no_errors	ENST00000531869	ensembl	human	known	74_37	splice_site_ins	INS	0.001:0.000	A
PLEKHA7	144100	genome.wustl.edu	37	11	16863266	16863266	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:16863266C>T	ENST00000355661.3	-	9	710	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	PLEKHA7_ENST00000532079.1_Intron|RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.V234M|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.V234M			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	234	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCCGTGTGCACAGCCTGTAGC	0.537																																																	0								ENSG00000166689						51.0	44.0	47.0					11																	16863266		2200	4294	6494	PLEKHA7	SO:0001583	missense	0			-	HGNC	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.700G>A	11.37:g.16863266C>T	ENSP00000347883:p.Val234Met	Somatic	0	32	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.V234M	ENST00000355661.3	37	c.700	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903584	0.72754	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.13657	2.57;2.57;2.57	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.516858	0.22386	N	0.060755	T	0.34279	0.0892	M	0.62723	1.935	0.36905	D	0.890603	P;D	0.67145	0.942;0.996	P;P	0.62014	0.772;0.897	T	0.08391	-1.0724	10	0.51188	T	0.08	-19.7327	19.2366	0.93862	0.0:1.0:0.0:0.0	.	234;234	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	M	234	ENSP00000435389:V234M;ENSP00000347883:V234M;ENSP00000416895:V234M	ENSP00000347883:V234M	V	-	1	0	PLEKHA7	16819842	1.000000	0.71417	0.994000	0.49952	0.926000	0.56050	3.959000	0.56744	2.857000	0.98124	0.650000	0.86243	GTG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.537	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	protein_coding	OTTHUMT00000387242.2	C	NM_175058	-		16863266	-1	no_errors	ENST00000448080	ensembl	human	known	74_37	missense	SNP	0.998	T
CA8	767	genome.wustl.edu	37	8	61178601	61178601	+	Silent	SNP	C	C	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr8:61178601C>T	ENST00000317995.4	-	3	564	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	100			S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation). {ECO:0000269|PubMed:19461874}.		one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	ATGGTCCTCCCGAAAGAACTG	0.388																																																	0								ENSG00000178538						60.0	58.0	58.0					8																	61178601		2203	4300	6503	CA8	SO:0001819	synonymous_variant	0			-	HGNC	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.300G>A	8.37:g.61178601C>T		Somatic	0	145	0.00		0.4955629421895401	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	130	9.09	A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.S100	ENST00000317995.4	37	c.300	CCDS6174.1	8																																																																																			-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.388	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	protein_coding	OTTHUMT00000383445.1	C		-		61178601	-1	no_errors	ENST00000317995	ensembl	human	known	74_37	silent	SNP	0.091	T
SPDYC	387778	genome.wustl.edu	37	11	64943049	64943050	+	IGR	INS	-	-	T	rs529153118|rs185303412		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:64943049_64943050insT	ENST00000377185.2	+	0	991				AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						cgcccggctaattttttttttg	0.525																																																	0								ENSG00000255200																																			AP003068.18	SO:0001628	intergenic_variant	0				Clone_based_vega_gene	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611		11.37:g.64943059_64943059dupT		Somatic	0	9	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000377185.2	37	NULL	CCDS31606.1	11																																																																																			-	-		0.525	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255200	protein_coding	OTTHUMT00000385299.1	-	NM_001008778			64943050	-1	no_errors	ENST00000534819	ensembl	human	known	74_37	rna	INS	0.991:0.969	T
FAM131B	9715	genome.wustl.edu	37	7	143056847	143056847	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr7:143056847T>C	ENST00000409408.1	-	2	1776	c.68A>G	c.(67-69)gAt>gGt	p.D23G	FAM131B_ENST00000443739.2_Missense_Mutation_p.D51G|FAM131B_ENST00000409346.1_Missense_Mutation_p.D23G|FAM131B_ENST00000409578.1_Intron|FAM131B_ENST00000409222.3_Missense_Mutation_p.D23G			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	23										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCAGGAGAAATCAGTTCGAGT	0.582																																																	0								ENSG00000159784						69.0	53.0	58.0					7																	143056847		2199	4297	6496	FAM131B	SO:0001583	missense	0			-	HGNC	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.68A>G	7.37:g.143056847T>C	ENSP00000387017:p.Asp23Gly	Somatic	0	52	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D51G	ENST00000409408.1	37	c.152	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	T	16.09	3.025625	0.54683	.	.	ENSG00000159784	ENST00000443739;ENST00000409346;ENST00000409408;ENST00000409222	T;T;T;T	0.29917	1.94;1.55;1.55;1.55	4.98	4.98	0.66077	.	0.352416	0.25143	N	0.032811	T	0.27454	0.0674	L	0.46157	1.445	0.40291	D	0.978501	B	0.25609	0.13	B	0.20955	0.032	T	0.11012	-1.0605	10	0.66056	D	0.02	-9.5855	10.7805	0.46376	0.0:0.0:0.1589:0.8411	.	23	Q86XD5	F131B_HUMAN	G	51;23;23;23	ENSP00000410603:D51G;ENSP00000386984:D23G;ENSP00000387017:D23G;ENSP00000387147:D23G	ENSP00000387147:D23G	D	-	2	0	FAM131B	142766969	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	5.123000	0.64703	1.855000	0.53841	0.383000	0.25322	GAT	-	NULL		0.582	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	protein_coding	OTTHUMT00000328057.1	T	NM_014690	-		143056847	-1	no_errors	ENST00000443739	ensembl	human	known	74_37	missense	SNP	1.000	C
CENPF	1063	genome.wustl.edu	37	1	214815232	214815232	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:214815232A>G	ENST00000366955.3	+	12	3719	c.3551A>G	c.(3550-3552)gAg>gGg	p.E1184G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGAGAGTGAGAGAAATCAA	0.338																																					Colon(80;575 1284 11000 14801 43496)												0								ENSG00000117724						47.0	53.0	51.0					1																	214815232		2201	4296	6497	CENPF	SO:0001583	missense	0			-	HGNC	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3551A>G	1.37:g.214815232A>G	ENSP00000355922:p.Glu1184Gly	Somatic	0	39	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.E1184G	ENST00000366955.3	37	c.3551	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584359	0.65992	.	.	ENSG00000117724	ENST00000366955	T	0.04156	3.69	5.31	2.89	0.33648	.	0.200392	0.24769	N	0.035750	T	0.17492	0.0420	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02202	-1.1196	9	0.72032	D	0.01	.	11.0085	0.47649	0.701:0.2989:0.0:0.0	.	1184	P49454	CENPF_HUMAN	G	1184	ENSP00000355922:E1184G	ENSP00000355922:E1184G	E	+	2	0	CENPF	212881855	0.954000	0.32549	0.011000	0.14972	0.375000	0.29983	3.113000	0.50376	0.292000	0.22492	0.496000	0.49642	GAG	-	NULL		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	A	NM_016343	-		214815232	+1	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	SNP	0.046	G
OAS2	4939	genome.wustl.edu	37	12	113425106	113425106	+	Silent	SNP	C	C	T	rs369863340	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr12:113425106C>T	ENST00000342315.4	+	2	655	c.441C>T	c.(439-441)aaC>aaT	p.N147N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.N147N|OAS2_ENST00000449768.2_Silent_p.N147N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	147	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGCCTTCAACGCTCTGAGTA	0.493													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19067	0.0		0.0	False		,,,				2504	0.001				Pancreas(199;709 2232 18410 33584 35052)												0								ENSG00000111335	C	,,	0,4406		0,0,2203	48.0	51.0	50.0		441,441,441	-6.3	0.1	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	147/173,147/688,147/720	113425106	1,13005	2203	4300	6503	OAS2	SO:0001819	synonymous_variant	0			-	HGNC	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.441C>T	12.37:g.113425106C>T		Somatic	0	45	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	36	41.94	A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.N147	ENST00000342315.4	37	c.441	CCDS31906.1	12																																																																																			-	NULL		0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	protein_coding	OTTHUMT00000405937.1	C		-		113425106	+1	no_errors	ENST00000342315	ensembl	human	known	74_37	silent	SNP	0.389	T
PPP1R26	9858	genome.wustl.edu	37	9	138377272	138377272	+	Missense_Mutation	SNP	A	A	G	rs141353268		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr9:138377272A>G	ENST00000356818.2	+	4	1465	c.916A>G	c.(916-918)Agg>Ggg	p.R306G	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R306G|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R306G|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R306G|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R306G	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	306					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAAGCCTCAGGTCCAAGGT	0.597																																																	0								ENSG00000196422																																			PPP1R26	SO:0001583	missense	0			-	HGNC	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.916A>G	9.37:g.138377272A>G	ENSP00000349274:p.Arg306Gly	Somatic	0	42	0.00		0.4955629421895401	10	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R306G	ENST00000356818.2	37	c.916	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868993	0.32977	.	.	ENSG00000196422	ENST00000356818	T	0.11712	2.75	5.37	1.34	0.21922	.	0.472484	0.19213	N	0.119862	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	1	B	0.18461	0.028	B	0.17433	0.018	T	0.28459	-1.0043	10	0.48119	T	0.1	-10.8744	8.2536	0.31741	0.4295:0.4928:0.0777:0.0	.	306	Q5T8A7	PPR26_HUMAN	G	306	ENSP00000349274:R306G	ENSP00000349274:R306G	R	+	1	2	KIAA0649	137517093	0.491000	0.26019	0.000000	0.03702	0.117000	0.20001	0.925000	0.28791	-0.034000	0.13713	0.533000	0.62120	AGG	-	NULL		0.597	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	protein_coding	OTTHUMT00000054987.1	A	NM_014811	rs141353268		138377272	+1	no_errors	ENST00000356818	ensembl	human	known	74_37	missense	SNP	0.000	G
NLRP9	338321	genome.wustl.edu	37	19	56223940	56223940	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr19:56223940G>T	ENST00000332836.2	-	7	2545	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	840						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGGAAGTAAGGAAACAGCCC	0.423																																																	0								ENSG00000185792						78.0	72.0	74.0					19																	56223940		2200	4291	6491	NLRP9	SO:0001583	missense	0			-	HGNC	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2518C>A	19.37:g.56223940G>T	ENSP00000331857:p.Leu840Ile	Somatic	0	46	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	B2RN12|Q86W27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L840I	ENST00000332836.2	37	c.2518	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046056	0.19748	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.53423	0.62	4.0	-0.935	0.10423	.	.	.	.	.	T	0.31263	0.0791	L	0.53561	1.675	0.09310	N	1	B	0.31931	0.347	B	0.32393	0.145	T	0.29366	-1.0014	9	0.05620	T	0.96	.	3.2488	0.06807	0.2064:0.0:0.4336:0.36	.	840	Q7RTR0	NALP9_HUMAN	I	840	ENSP00000331857:L840I	ENSP00000331857:L840I	L	-	1	0	NLRP9	60915752	0.076000	0.21285	0.001000	0.08648	0.005000	0.04900	-0.080000	0.11339	-0.105000	0.12132	0.638000	0.83543	CTT	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.423	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	protein_coding	OTTHUMT00000453653.1	G	NM_176820	-		56223940	-1	no_errors	ENST00000332836	ensembl	human	known	74_37	missense	SNP	0.001	T
PRIM2	5558	genome.wustl.edu	37	6	57512787	57512788	+	3'UTR	INS	-	-	CACCAAGGC	rs373452397|rs376103961|rs386701662|rs79832250		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr6:57512787_57512788insCACCAAGGC	ENST00000389488.2	+	0	1702_1703				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttgcactctgttgtgtaattgt	0.431																																																	0								ENSG00000146143																																			PRIM2	SO:0001624	3_prime_UTR_variant	0				HGNC		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1700->CACCAAGGC	6.37:g.57512787_57512788insCACCAAGGC		Somatic	NA	NA	NA		0.4955629421895401	3	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			-	-		0.431	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	protein_coding	OTTHUMT00000043468.3	-	NM_000947			57512788	+1	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	INS	0.057:0.034	CACCAAGGC
PNLIPRP2	5408	genome.wustl.edu	37	10	118401628	118401628	+	RNA	SNP	G	G	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr10:118401628G>A	ENST00000298771.7	+	0	1206				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ATTTTCAGAGGATCCCTCAAA	0.348																																																	0								ENSG00000165862						43.0	42.0	43.0					10																	118401628		1868	4088	5956	PNLIPRP2			0			-	HGNC	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118401628G>A		Somatic	0	93	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	48	37.66	A8K627|Q6IB55	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom	p.G393E	ENST00000298771.7	37	c.1178		10	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632132	0.67015	.	.	ENSG00000165862	ENST00000537242	T	0.49432	0.78	5.7	5.7	0.88788	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.56097	D	0.000038	T	0.50103	0.1596	.	.	.	0.33503	D	0.590124	D	0.53745	0.962	P	0.54856	0.762	T	0.48151	-0.9060	9	0.09084	T	0.74	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	394	P54317	LIPR2_HUMAN	E	393	ENSP00000446346:G393E	ENSP00000446346:G393E	G	+	2	0	PNLIPRP2	118391618	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.190000	0.50973	2.706000	0.92434	0.557000	0.71058	GGA	-	pirsf_Lipoprotein_lipase_LIPH,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom		0.348	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	polymorphic_pseudogene	OTTHUMT00000050546.6	G	NM_005396	-		118401628	+1	no_errors	ENST00000537242	ensembl	human	known	74_37	missense	SNP	1.000	A
FCGR1A	2209	genome.wustl.edu	37	1	149764430	149764434	+	IGR	DEL	CGAGT	CGAGT	-	rs371458276	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	CGAGT	CGAGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:149764430_149764434delCGAGT	ENST00000369168.4	+	0	2180				HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)						antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCATTCGCCCGAGTCAAGGGGCGG	0.634														1193	0.238219	0.3411	0.1744	5008	,	,		12350	0.3571		0.0497	False		,,,				2504	0.2157																0								ENSG00000233030																																			RP11-196G18.3	SO:0001628	intergenic_variant	0				Clone_based_vega_gene	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089		1.37:g.149764430_149764434delCGAGT		Somatic	NA	NA	NA		0.4955629421895401	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	P12315|Q5QNW7|Q92495|Q92663	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000369168.4	37	NULL	CCDS933.1	1																																																																																			-	-		0.634	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233030	protein_coding	OTTHUMT00000033446.1	CGAGT	NM_000566			149764434	-1	no_errors	ENST00000428289	ensembl	human	known	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000	-
DPP3	10072	genome.wustl.edu	37	11	66249827	66249862	+	In_Frame_Del	DEL	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	-	rs114567543|rs34243583|rs375779987	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:66249827_66249862delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	ENST00000360510.2	+	2	221_256	c.156_191delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	c.(154-192)acctcccctgaggccccctacatctatgctctgctcagc>acc	p.SPEAPYIYALLS53del	DPP3_ENST00000453114.1_In_Frame_Del_p.SPEAPYIYALLS53del|CTD-3074O7.5_ENST00000525142.1_RNA|DPP3_ENST00000532677.1_In_Frame_Del_p.SPEAPYIYALLS72del|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000541961.1_In_Frame_Del_p.SPEAPYIYALLS53del|DPP3_ENST00000530165.1_In_Frame_Del_p.SPEAPYIYALLS53del|DPP3_ENST00000531863.1_In_Frame_Del_p.SPEAPYIYALLS73del|CTD-3074O7.5_ENST00000533502.1_RNA			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	53					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGCTTCAGACCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAGCCGCCTCTTC	0.653																																																	0								ENSG00000254986																																			DPP3	SO:0001651	inframe_deletion	0				HGNC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.156_191delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	11.37:g.66249827_66249862delCTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG	ENSP00000353701:p.Ser53_Ser64del	Somatic	NA	NA	NA		0.4955629421895401	7	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pirsf_Dipeptidyl-peptase3	p.SPEAPYIYALLS53in_frame_del	ENST00000360510.2	37	c.156_191	CCDS8141.1	11																																																																																			-	pirsf_Dipeptidyl-peptase3		0.653	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	CTCCCCTGAGGCCCCCTACATCTATGCTCTGCTCAG				66249862	+1	no_errors	ENST00000360510	ensembl	human	known	74_37	in_frame_del	DEL	0.253:0.995:0.998:0.972:0.992:0.976:0.006:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.854:0.865:0.996:1.000:1.000:1.000:1.000:1.000:0.999:0.962:0.999:1.000:0.997:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
ETFB	2109	genome.wustl.edu	37	19	51857627	51857627	+	Intron	SNP	G	G	A	rs143544475	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr19:51857627G>A	ENST00000309244.4	-	2	149				CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_Intron|ETFB_ENST00000354232.4_Missense_Mutation_p.A89V	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		GGGCCTCAGCGccaaccctct	0.632																																																	0								ENSG00000105379	G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	53.0	52.0	52.0		266,	-9.0	0.0	19	dbSNP_134	52	0,8600		0,0,4300	no	missense,intron	ETFB	NM_001014763.1,NM_001985.2	64,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,	89/347,	51857627	2,13004	2203	4300	6503	ETFB	SO:0001627	intron_variant	0			-	HGNC	X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-65C>T	19.37:g.51857627G>A		Somatic	0	46	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	54	14.29	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.A89V	ENST00000309244.4	37	c.266	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	g	5.385	0.256283	0.10185	4.54E-4	0.0	ENSG00000105379	ENST00000354232	D	0.83914	-1.78	4.49	-8.98	0.00754	.	.	.	.	.	T	0.63450	0.2512	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47560	-0.9108	7	.	.	.	.	8.449	0.32860	0.5027:0.3795:0.1179:0.0	.	89	P38117-2	.	V	89	ENSP00000346173:A89V	.	A	-	2	0	ETFB	56549439	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.673000	0.01951	-1.511000	0.01794	-1.634000	0.00779	GCG	-	NULL		0.632	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	protein_coding	OTTHUMT00000464273.1	G		rs143544475		51857627	-1	no_errors	ENST00000354232	ensembl	human	known	74_37	missense	SNP	0.000	A
DNAH12	201625	genome.wustl.edu	37	3	57431127	57431127	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr3:57431127G>A	ENST00000351747.2	-	28	4310	c.4130C>T	c.(4129-4131)gCt>gTt	p.A1377V		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1377	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AACCATCATAGCCACTGTTCT	0.343																																																	0								ENSG00000174844						48.0	43.0	44.0					3																	57431127		692	1591	2283	DNAH12	SO:0001583	missense	0			-	HGNC	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.4130C>T	3.37:g.57431127G>A	ENSP00000295937:p.Ala1377Val	Somatic	0	59	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A1377V	ENST00000351747.2	37	c.4130		3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502735	0.85176	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.14022	2.54;2.54	5.82	5.82	0.92795	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.46483	0.1395	M	0.90019	3.08	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	T	0.54302	-0.8314	9	0.87932	D	0	.	20.0951	0.97834	0.0:0.0:1.0:0.0	.	1377	Q6ZR08	DYH12_HUMAN	V	1377;1400	ENSP00000295937:A1377V;ENSP00000418137:A1400V	ENSP00000295937:A1377V	A	-	2	0	DNAH12	57406167	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.607000	0.98328	2.753000	0.94483	0.467000	0.42956	GCT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.343	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	protein_coding		G	NM_178504	-		57431127	-1	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	SNP	1.000	A
FAN1	22909	genome.wustl.edu	37	15	31217365	31217365	+	Silent	SNP	G	G	A	rs141117593		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr15:31217365G>A	ENST00000362065.4	+	9	2499	c.2208G>A	c.(2206-2208)ccG>ccA	p.P736P	RP11-540B6.6_ENST00000602886.1_RNA|FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	736					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGCGGATCCGGAAGTCAGAA	0.552								Direct reversal of damage																																									0								ENSG00000198690	A		1,4403	2.1+/-5.4	0,1,2201	46.0	48.0	47.0		2208	-11.4	0.0	15	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	FAN1	NM_014967.4		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		736/1018	31217365	1,13003	2202	4300	6502	FAN1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2208G>A	15.37:g.31217365G>A		Somatic	0	67	0.00		0.4955629421895401	11	8.33	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	75	8.43	A8K4M2|Q86WU8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VRR_NUC,smart_Znf_Rad18_put	p.P736	ENST00000362065.4	37	c.2208	CCDS32186.1	15																																																																																			-	NULL		0.552	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	protein_coding	OTTHUMT00000430740.1	G	NM_014967	rs141117593		31217365	+1	no_errors	ENST00000362065	ensembl	human	known	74_37	silent	SNP	0.000	A
SORCS3	22986	genome.wustl.edu	37	10	106927044	106927044	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr10:106927044T>A	ENST00000369701.3	+	13	2065	c.1838T>A	c.(1837-1839)tTc>tAc	p.F613Y		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	613					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AATGTCTGGTTCCTAGACTGG	0.443																																					NSCLC(116;1497 1690 7108 13108 14106)												0								ENSG00000156395						133.0	116.0	122.0					10																	106927044		2203	4300	6503	SORCS3	SO:0001583	missense	0			-	HGNC	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1838T>A	10.37:g.106927044T>A	ENSP00000358715:p.Phe613Tyr	Somatic	0	42	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.F613Y	ENST00000369701.3	37	c.1838	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716459	0.15306	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.31247	1.5;1.5	5.76	5.76	0.90799	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.28400	0.85	0.44395	D	0.997305	B	0.20052	0.041	B	0.28011	0.085	T	0.09122	-1.0689	9	.	.	.	.	11.188	0.48669	0.1371:0.0:0.0:0.8629	.	613	Q9UPU3	SORC3_HUMAN	Y	613;58	ENSP00000358715:F613Y;ENSP00000376876:F58Y	.	F	+	2	0	SORCS3	106917034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.037000	0.41174	2.197000	0.70478	0.533000	0.62120	TTC	-	smart_VPS10		0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	T	NM_014978	-		106927044	+1	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	SNP	1.000	A
MGAT5	4249	genome.wustl.edu	37	2	135160626	135160626	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr2:135160626G>A	ENST00000409645.1	+	12	1700	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N	MGAT5_ENST00000281923.2_Missense_Mutation_p.S483N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	483					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TATGGCTCCAGCACAAAGAAT	0.408																																																	0								ENSG00000152127						99.0	98.0	98.0					2																	135160626		2203	4300	6503	MGAT5	SO:0001583	missense	0			-	HGNC	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1448G>A	2.37:g.135160626G>A	ENSP00000386377:p.Ser483Asn	Somatic	0	35	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	D3DP70	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S483N	ENST00000409645.1	37	c.1448	CCDS2171.1	2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279710	0.59758	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.69	5.69	0.88448	.	0.122515	0.85682	D	0.000000	T	0.55337	0.1914	L	0.36672	1.1	0.80722	D	1	B	0.30281	0.275	B	0.30782	0.12	T	0.49485	-0.8935	9	0.21540	T	0.41	-22.8441	19.8275	0.96624	0.0:0.0:1.0:0.0	.	483	Q09328	MGT5A_HUMAN	N	483	.	ENSP00000281923:S483N	S	+	2	0	MGAT5	134877096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	AGC	-	NULL		0.408	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	protein_coding	OTTHUMT00000254584.3	G	NM_002410	-		135160626	+1	no_errors	ENST00000281923	ensembl	human	known	74_37	missense	SNP	1.000	A
KRIT1	889	genome.wustl.edu	37	7	91829672	91829672	+	3'UTR	DEL	T	T	-			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr7:91829672delT	ENST00000340022.2	-	0	3607				Y_RNA_ENST00000363899.1_RNA|KRIT1_ENST00000412043.2_3'UTR|KRIT1_ENST00000394507.1_3'UTR|KRIT1_ENST00000394505.2_3'UTR|AC000120.7_ENST00000414227.1_RNA	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing						angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGAAAGTAAttttttttttt	0.378																																																	0								ENSG00000243107																																			AC000120.7	SO:0001624	3_prime_UTR_variant	0				Clone_based_vega_gene	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.*378A>-	7.37:g.91829672delT		Somatic	0	30	0.00		0.4955629421895401	65	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000340022.2	37	NULL	CCDS5624.1	7																																																																																			-	-		0.378	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000243107	protein_coding	OTTHUMT00000253910.1	T				91829672	-1	no_errors	ENST00000414227	ensembl	human	known	74_37	rna	DEL	0.076	-
TERF1	7013	genome.wustl.edu	37	8	73921283	73921284	+	In_Frame_Ins	INS	-	-	GAGGAG	rs375837075|rs149294115|rs3832552	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr8:73921283_73921284insGAGGAG	ENST00000276603.5	+	1	185_186	c.162_163insGAGGAG	c.(163-165)gag>GAGGAGgag	p.55_55E>EEE	TERF1_ENST00000276602.6_In_Frame_Ins_p.55_55E>EEE	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	55	Asp/Glu-rich (acidic).|Poly-Glu.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TGGGGGCCCCCgaggaggagga	0.653														22	0.00439297	0.0008	0.0303	5008	,	,		13580	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000147601																																			TERF1	SO:0001652	inframe_insertion	0				HGNC	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.181_186dupGAGGAG	8.37:g.73921284_73921289dupGAGGAG	ENSP00000276603:p.GluGlu61dup	Somatic	NA	NA	NA		0.4955629421895401	3	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.58in_frame_insEE	ENST00000276603.5	37	c.162_163	CCDS6211.1	8																																																																																			-	pirsf_Telomere_repeat-bd-1/2		0.653	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	protein_coding	OTTHUMT00000379093.1	-	NM_017489			73921284	+1	no_errors	ENST00000276603	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.121	GAGGAG
MYO15B	80022	genome.wustl.edu	37	17	73586255	73586255	+	3'UTR	SNP	C	C	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr17:73586255C>T	ENST00000578382.2	+	0	2117					NR_003587.2		Q96JP2	MY15B_HUMAN	myosin XVB pseudogene							cytoplasm (GO:0005737)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)										GAGGCGCCACCCTTCCCCGGT	0.706																																																	0								ENSG00000266714																																			MYO15B	SO:0001624	3_prime_UTR_variant	0			-	HGNC			17q25.1	2014-07-16			ENSG00000266714	ENSG00000266714		"""Myosins / Myosin superfamily : Class XV"""	14083	pseudogene	pseudogene						11294886	Standard	NR_003587		Approved	MYO15BP	uc002jon.1	Q96JP2	OTTHUMG00000179794	ENST00000578382.2:c.*2114C>T	17.37:g.73586255C>T		Somatic	0	38	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000578382.2	37	NULL		17																																																																																			-	-		0.706	MYO15B-001	KNOWN	sequence_error|basic	processed_transcript	MYO15B	protein_coding	OTTHUMT00000448172.2	C	NR_003587	-		73586255	+1	no_errors	ENST00000578382	ensembl	human	known	74_37	rna	SNP	0.019	T
ARHGAP29	9411	genome.wustl.edu	37	1	94643144	94643144	+	Intron	DEL	T	T	-	rs563927860	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:94643144delT	ENST00000260526.6	-	22	3088				ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29						positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AGCAAACATATTTTTTTTTTA	0.378													|||unknown(HR)	41	0.0081869	0.0166	0.0014	5008	,	,		16588	0.0069		0.0	False		,,,				2504	0.0112																0								ENSG00000137962			80,4186		3,74,2056	74.0	70.0	71.0			-1.3	0.0	1		73	148,8102		6,136,3983	no	intron	ARHGAP29	NM_004815.3		9,210,6039	A1A1,A1R,RR		1.7939,1.8753,1.8217			94643144	228,12288	2203	4298	6501	ARHGAP29	SO:0001627	intron_variant	0				HGNC		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2905+23A>-	1.37:g.94643144delT		Somatic	0	33	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000260526.6	37	NULL	CCDS748.1	1																																																																																			-	-		0.378	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	protein_coding	OTTHUMT00000029376.2	T	NM_004815			94643144	-1	no_errors	ENST00000482481	ensembl	human	known	74_37	rna	DEL	0.000	-
PTPRK	5796	genome.wustl.edu	37	6	128505867	128505867	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr6:128505867G>A	ENST00000368215.3	-	7	871	c.872C>T	c.(871-873)cCg>cTg	p.P291L	PTPRK_ENST00000532331.1_Missense_Mutation_p.P291L|PTPRK_ENST00000368207.3_Missense_Mutation_p.P291L|PTPRK_ENST00000368210.3_Missense_Mutation_p.P291L|PTPRK_ENST00000368226.4_Missense_Mutation_p.P291L|PTPRK_ENST00000368227.3_Missense_Mutation_p.P291L|PTPRK_ENST00000368213.5_Missense_Mutation_p.P291L|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	291					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGTCTTGGCGGTTCTAGGAG	0.393																																																	0								ENSG00000152894						57.0	54.0	55.0					6																	128505867		2203	4299	6502	PTPRK	SO:0001583	missense	0			-	HGNC	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.872C>T	6.37:g.128505867G>A	ENSP00000357198:p.Pro291Leu	Somatic	0	73	0.00		0.4955629421895401	2	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	78	8.24	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P291L	ENST00000368215.3	37	c.872		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.084153|4.084153	0.76642|0.76642	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676|ENST00000490332	T;T;T;T;T;T;T|.	0.32023|.	1.47;1.47;1.47;1.47;1.47;1.47;1.47|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73830|0.73830	0.3637|0.3637	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;1.0;0.999;0.999|.	T|T	0.73534|0.73534	-0.3952|-0.3952	10|5	0.52906|.	T|.	0.07|.	.|.	19.4299|19.4299	0.94759|0.94759	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	291;291;291;148;291;291|.	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2|.	.;.;.;.;PTPRK_HUMAN;.|.	L|C	291;291;291;291;291;291;291;148|108	ENSP00000357209:P291L;ENSP00000357210:P291L;ENSP00000432973:P291L;ENSP00000357196:P291L;ENSP00000357193:P291L;ENSP00000357198:P291L;ENSP00000357190:P291L|.	ENSP00000357190:P291L|.	P|R	-|-	2|1	0|0	PTPRK|PTPRK	128547560|128547560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	9.869000|9.869000	0.99810|0.99810	2.585000|2.585000	0.87301|0.87301	0.563000|0.563000	0.77884|0.77884	CCG|CGC	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	protein_coding	OTTHUMT00000042163.1	G		-		128505867	-1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	SNP	1.000	A
TPRKB	51002	genome.wustl.edu	37	2	73957880	73957881	+	Intron	INS	-	-	AA	rs373860849		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr2:73957880_73957881insAA	ENST00000272424.5	-	4	371				TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000318190.7_Intron|TPRKB_ENST00000409716.2_Intron	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						GAAAAAAAATGAAAAAAAAAAC	0.327																																																	0								ENSG00000144034																																			TPRKB	SO:0001627	intron_variant	0				HGNC	AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.265-17->TT	2.37:g.73957889_73957890dupAA		Somatic	0	18	0.00		0.4955629421895401	11	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000272424.5	37	NULL	CCDS1927.1	2																																																																																			-	-		0.327	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRKB	protein_coding	OTTHUMT00000252046.2	-	NM_016058			73957881	-1	no_errors	ENST00000485758	ensembl	human	putative	74_37	rna	INS	0.000:0.004	AA
ANKFY1	51479	genome.wustl.edu	37	17	4088163	4088163	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr17:4088163G>A	ENST00000341657.4	-	12	1684	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A550V|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A592V|Y_RNA_ENST00000516003.1_RNA	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	550					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATAGGCGATCGCCATGTGCAG	0.557																																																	0								ENSG00000185722						87.0	94.0	92.0					17																	4088163		2160	4253	6413	ANKFY1	SO:0001583	missense	0			-	HGNC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1649C>T	17.37:g.4088163G>A	ENSP00000343362:p.Ala550Val	Somatic	0	61	0.00		0.4955629421895401	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.A592V	ENST00000341657.4	37	c.1775		17	.	.	.	.	.	.	.	.	.	.	G	36	5.689510	0.96784	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.73897	-0.79	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	H	0.95114	3.625	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.949;0.915;0.915	D	0.92924	0.6358	10	0.87932	D	0	-14.8437	18.9587	0.92670	0.0:0.0:1.0:0.0	.	491;550;550;592	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	V	550;491	ENSP00000343362:A550V	ENSP00000343362:A550V	A	-	2	0	ANKFY1	4034912	1.000000	0.71417	0.971000	0.41717	0.801000	0.45260	9.835000	0.99442	2.728000	0.93425	0.655000	0.94253	GCG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.557	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	protein_coding	OTTHUMT00000438702.1	G	NM_016376	-		4088163	-1	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	SNP	1.000	A
OR1I1	126370	genome.wustl.edu	37	19	15198749	15198749	+	Silent	SNP	C	C	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr19:15198749C>T	ENST00000209540.2	+	1	959	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TTATCTACAGCATACGGAACA	0.537																																																	0								ENSG00000094661						113.0	98.0	103.0					19																	15198749		2203	4300	6503	OR1I1	SO:0001819	synonymous_variant	0			-	HGNC	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.873C>T	19.37:g.15198749C>T		Somatic	0	45	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	Q96R92	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S291	ENST00000209540.2	37	c.873	CCDS32937.1	19																																																																																			-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.537	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1I1	protein_coding	OTTHUMT00000465665.1	C		-		15198749	+1	no_errors	ENST00000209540	ensembl	human	known	74_37	silent	SNP	1.000	T
AP2M1	1173	genome.wustl.edu	37	3	183901569	183901569	+	3'UTR	SNP	G	G	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr3:183901569G>T	ENST00000292807.5	+	0	1621				ABCF3_ENST00000292808.5_5'Flank|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_3'UTR|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_3'UTR|ABCF3_ENST00000429586.2_5'Flank	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGTGGGACCGGTGGAGCAGC	0.617																																																	0								ENSG00000161203																																			AP2M1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.*165G>T	3.37:g.183901569G>T		Somatic	0	32	0.00		0.4955629421895401	1189	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	A6NE12|D3DNT1|P20172|P53679	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000292807.5	37	NULL	CCDS43177.1	3																																																																																			-	-		0.617	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	protein_coding	OTTHUMT00000346013.1	G	NM_004068	-		183901569	+1	no_errors	ENST00000461733	ensembl	human	known	74_37	rna	SNP	0.001	T
CSMD2	114784	genome.wustl.edu	37	1	34191064	34191064	+	Missense_Mutation	SNP	C	C	T	rs200072338		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:34191064C>T	ENST00000373381.4	-	17	2757	c.2581G>A	c.(2581-2583)Gtt>Att	p.V861I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	821						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGTGGTAAACCCCGATCAAG	0.537																																																	0								ENSG00000121904						114.0	114.0	114.0					1																	34191064		2203	4300	6503	CSMD2	SO:0001583	missense	0			-	HGNC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2581G>A	1.37:g.34191064C>T	ENSP00000362479:p.Val861Ile	Somatic	0	61	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	57	38.71	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V861I	ENST00000373381.4	37	c.2581		1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431673	0.25813	.	.	ENSG00000121904	ENST00000373381	T	0.59906	0.23	5.89	4.97	0.65823	CUB (5);	0.119417	0.56097	D	0.000026	T	0.47691	0.1459	N	0.17379	0.485	0.80722	D	1	P;B	0.40083	0.702;0.084	B;B	0.43623	0.425;0.232	T	0.47355	-0.9124	10	0.36615	T	0.2	.	15.5007	0.75698	0.1395:0.8605:0.0:0.0	.	821;861	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	861	ENSP00000362479:V861I	ENSP00000241312:V821I	V	-	1	0	CSMD2	33963651	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	4.467000	0.60155	1.480000	0.48289	-0.181000	0.13052	GTT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		C	NM_052896	-		34191064	-1	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	SNP	0.994	T
LRBA	987	genome.wustl.edu	37	4	151560934	151560943	+	Intron	DEL	TGTGTGTGTG	TGTGTGTGTG	-	rs13148325|rs57540184|rs57210930|rs72005085		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	TGTGTGTGTG	TGTGTGTGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr4:151560934_151560943delTGTGTGTGTG	ENST00000357115.3	-	38	6165				AC110813.1_ENST00000408308.1_RNA|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					tatatatatatgtgtgtgtgtatatatata	0.195																																																	0								ENSG00000221235																																			AC110813.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5922-40651CACACACACA>-	4.37:g.151560934_151560943delTGTGTGTGTG		Somatic	NA	NA	NA		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000357115.3	37	NULL	CCDS3773.1	4																																																																																			-	-		0.195	LRBA-002	KNOWN	basic|CCDS	protein_coding	ENSG00000221235	protein_coding	OTTHUMT00000364939.1	TGTGTGTGTG				151560943	-1	no_errors	ENST00000408308	ensembl	human	novel	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
GPR114	221188	genome.wustl.edu	37	16	57602029	57602029	+	Silent	SNP	A	A	G			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr16:57602029A>G	ENST00000340339.4	+	9	1606	c.1083A>G	c.(1081-1083)ctA>ctG	p.L361L	GPR114_ENST00000349457.3_Silent_p.L361L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	361					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						TTGGTGTGCTAGGCTGGGGTA	0.552																																																	0								ENSG00000159618						120.0	92.0	101.0					16																	57602029		2198	4300	6498	GPR114	SO:0001819	synonymous_variant	0			-	HGNC	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1083A>G	16.37:g.57602029A>G		Somatic	0	32	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.L361	ENST00000340339.4	37	c.1083	CCDS10785.1	16																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.552	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	protein_coding	OTTHUMT00000257336.3	A	NM_153837	-		57602029	+1	no_errors	ENST00000340339	ensembl	human	known	74_37	silent	SNP	0.994	G
RP11-435B5.5	0	genome.wustl.edu	37	1	143378564	143378564	+	lincRNA	SNP	G	G	A	rs138693387		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:143378564G>A	ENST00000428624.1	+	0	1284				RP11-435B5.4_ENST00000423249.1_lincRNA|RP11-435B5.3_ENST00000430699.1_lincRNA																							AAAGTCATTGGCTTTAGAAAC	0.328																																																	0								ENSG00000238261																																			RP11-435B5.5			0			-	Clone_based_vega_gene																													1.37:g.143378564G>A		Somatic	0	9	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			-	-		0.328	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	lincRNA	OTTHUMT00000037971.1	G		rs138693387		143378564	+1	no_errors	ENST00000428624	ensembl	human	known	74_37	rna	SNP	0.013	A
HMCN1	83872	genome.wustl.edu	37	1	185834938	185834938	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:185834938A>C	ENST00000271588.4	+	4	793	c.564A>C	c.(562-564)gaA>gaC	p.E188D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E188D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	188	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTATGAAGAAATTGCCTCTA	0.348																																																	0								ENSG00000143341						86.0	91.0	89.0					1																	185834938		2203	4300	6503	HMCN1	SO:0001583	missense	0			-	HGNC	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.564A>C	1.37:g.185834938A>C	ENSP00000271588:p.Glu188Asp	Somatic	0	129	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	168	11.11	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.E188D	ENST00000271588.4	37	c.564	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243643	0.79912	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97752	-4.52;-4.52	5.65	4.51	0.55191	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	N	0.17631	0.505	0.50467	D	0.999877	D	0.89917	1.0	D	0.87578	0.998	D	0.95376	0.8469	10	0.42905	T	0.14	.	9.0609	0.36433	0.858:0.0:0.142:0.0	.	188	Q96RW7	HMCN1_HUMAN	D	188	ENSP00000271588:E188D;ENSP00000356462:E188D	ENSP00000271588:E188D	E	+	3	2	HMCN1	184101561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.274000	0.51631	2.135000	0.66039	0.533000	0.62120	GAA	-	NULL		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	A	NM_031935	-		185834938	+1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	SNP	1.000	C
DENND4C	55667	genome.wustl.edu	37	9	19296118	19296118	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr9:19296118A>G	ENST00000380432.2	+	2	239	c.206A>G	c.(205-207)aAa>aGa	p.K69R	DENND4C_ENST00000434457.2_Missense_Mutation_p.K305R|DENND4C_ENST00000602925.1_Missense_Mutation_p.K305R			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	69					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGTCTCCAAATCCATCAAT	0.383																																																	0								ENSG00000137145						157.0	147.0	150.0					9																	19296118		1857	4097	5954	DENND4C	SO:0001583	missense	0			-	HGNC	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.206A>G	9.37:g.19296118A>G	ENSP00000369797:p.Lys69Arg	Somatic	0	83	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	66	21.43	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K305R	ENST00000380432.2	37	c.914		9	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818868	0.32145	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.88	3.74	0.42951	.	0.106321	0.64402	N	0.000006	T	0.38506	0.1043	N	0.21282	0.65	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.11641	-1.0579	9	0.10377	T	0.69	-15.5586	10.5893	0.45300	0.924:0.0:0.076:0.0	.	69	Q5VZ89	DEN4C_HUMAN	R	69	.	ENSP00000369802:K69R	K	+	2	0	DENND4C	19286118	1.000000	0.71417	0.886000	0.34754	0.640000	0.38277	2.155000	0.42301	0.880000	0.35969	0.482000	0.46254	AAA	-	NULL		0.383	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	protein_coding		A	NM_017925	-		19296118	+1	no_errors	ENST00000602925	ensembl	human	known	74_37	missense	SNP	1.000	G
NXT2	55916	genome.wustl.edu	37	X	108781279	108781279	+	Missense_Mutation	SNP	T	T	A	rs34213752		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chrX:108781279T>A	ENST00000372106.1	+	2	152	c.21T>A	c.(19-21)ttT>ttA	p.F7L	NXT2_ENST00000372103.1_5'UTR|NXT2_ENST00000218004.1_Missense_Mutation_p.F62L|NXT2_ENST00000372107.1_5'UTR	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	7					mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TGTAGGATTTTAAAACTTATG	0.363																																																	0								ENSG00000101888						111.0	110.0	110.0					X																	108781279		2203	4300	6503	NXT2	SO:0001583	missense	0			-	HGNC	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.21T>A	X.37:g.108781279T>A	ENSP00000361178:p.Phe7Leu	Somatic	0	86	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	63	64	49.61	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.F62L	ENST00000372106.1	37	c.186	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637768	0.29157	.	.	ENSG00000101888	ENST00000218004;ENST00000372106	.	.	.	4.75	3.58	0.41010	.	0.098140	0.64402	D	0.000001	T	0.48021	0.1477	L	0.28458	0.855	0.80722	D	1	D;P	0.55800	0.973;0.767	P;B	0.56278	0.795;0.398	T	0.36089	-0.9762	9	0.25106	T	0.35	.	5.9762	0.19379	0.0:0.2182:0.0:0.7818	.	7;62	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	L	62;7	.	ENSP00000218004:F62L	F	+	3	2	NXT2	108667935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.815000	0.55651	0.719000	0.32188	0.486000	0.48141	TTT	-	NULL		0.363	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	protein_coding	OTTHUMT00000057886.1	T	NM_018698	-		108781279	+1	no_errors	ENST00000218004	ensembl	human	known	74_37	missense	SNP	1.000	A
IL27	246778	genome.wustl.edu	37	16	28515297	28515297	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr16:28515297G>A	ENST00000356897.1	-	2	128	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CTCAGCTGGGGCCTCCCTGGG	0.642																																																	0								ENSG00000197272						33.0	37.0	35.0					16																	28515297		2197	4300	6497	IL27	SO:0001583	missense	0			-	HGNC	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.106C>T	16.37:g.28515297G>A	ENSP00000349365:p.Pro36Ser	Somatic	0	98	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	72	14.29	B1AM69	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_4_helix_cytokine-like_core	p.P36S	ENST00000356897.1	37	c.106	CCDS10633.1	16	.	.	.	.	.	.	.	.	.	.	G	8.600	0.886568	0.17540	.	.	ENSG00000197272	ENST00000356897	T	0.33654	1.4	3.31	-0.043	0.13861	.	0.424701	0.17329	N	0.178218	T	0.15565	0.0375	N	0.16903	0.455	0.22330	N	0.999197	B	0.25563	0.129	B	0.18263	0.021	T	0.18053	-1.0349	10	0.19590	T	0.45	.	3.3114	0.07017	0.2273:0.0:0.5697:0.203	.	36	Q8NEV9	IL27A_HUMAN	S	36	ENSP00000349365:P36S	ENSP00000349365:P36S	P	-	1	0	IL27	28422798	0.001000	0.12720	0.965000	0.40720	0.938000	0.57974	0.160000	0.16462	-0.371000	0.08004	0.306000	0.20318	CCC	-	NULL		0.642	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27	protein_coding	OTTHUMT00000214114.1	G	NM_145659	-		28515297	-1	no_errors	ENST00000356897	ensembl	human	known	74_37	missense	SNP	0.951	A
CTB-25J19.1	0	genome.wustl.edu	37	19	7019354	7019354	+	lincRNA	SNP	G	G	A			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr19:7019354G>A	ENST00000358469.4	-	0	466																											GCTGGAAACCGCCCAGGGGTG	0.637																																																	0								ENSG00000196589																																			CTB-25J19.1			0			-	Clone_based_vega_gene																													19.37:g.7019354G>A		Somatic	0	31	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000358469.4	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	8.613	0.889658	0.17540	.	.	ENSG00000196589	ENST00000358469	.	.	.	2.25	1.14	0.20703	.	1.300580	0.05899	N	0.629589	T	0.40743	0.1129	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44802	-0.9304	6	0.87932	D	0	-6.5201	5.9507	0.19245	0.0:0.0:0.6904:0.3095	.	.	.	.	W	145	.	ENSP00000351254:R145W	R	-	1	2	AC010606.1	6970354	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.994000	0.29693	0.510000	0.28216	0.313000	0.20887	CGG	-	-		0.637	CTB-25J19.1-001	KNOWN	basic	lincRNA	ENSG00000196589	lincRNA	OTTHUMT00000458496.1	G		-		7019354	-1	no_errors	ENST00000358469	ensembl	human	known	74_37	rna	SNP	0.000	A
PHC3	80012	genome.wustl.edu	37	3	169846633	169846633	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr3:169846633G>T	ENST00000494943.1	-	8	1659	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	PHC3_ENST00000495893.2_Missense_Mutation_p.L543M|PHC3_ENST00000467570.1_Missense_Mutation_p.L490M			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	531	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CCCTGGGACAGAATTTCAGGC	0.512																																																	0								ENSG00000173889						128.0	131.0	130.0					3																	169846633		1950	4142	6092	PHC3	SO:0001583	missense	0			-	HGNC		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1591C>A	3.37:g.169846633G>T	ENSP00000420271:p.Leu531Met	Somatic	0	56	0.00		0.4955629421895401	4	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	34	8.11	A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.L543M	ENST00000494943.1	37	c.1627		3	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706524	0.48412	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.35048	1.36;1.33	5.69	5.69	0.88448	.	0.000000	0.51477	D	0.000098	T	0.48554	0.1506	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.995;0.999	D;D;D;D	0.87578	0.986;0.998;0.979;0.998	T	0.33111	-0.9881	10	0.33141	T	0.24	-11.3471	10.2726	0.43491	0.1467:0.0:0.8533:0.0	.	490;490;531;543	B4E2T1;E7EX82;Q8NDX5;Q8NDX5-7	.;.;PHC3_HUMAN;.	M	531;543;490	ENSP00000420271:L531M;ENSP00000420294:L543M	ENSP00000419089:L490M	L	-	1	2	PHC3	171329327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.083000	0.57643	2.670000	0.90874	0.563000	0.77884	CTG	-	NULL		0.512	PHC3-004	KNOWN	basic	protein_coding	PHC3	protein_coding	OTTHUMT00000352182.3	G	NM_024947	-		169846633	-1	no_errors	ENST00000495893	ensembl	human	known	74_37	missense	SNP	1.000	T
LPHN3	23284	genome.wustl.edu	37	4	62363037	62363037	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr4:62363037T>C	ENST00000514591.1	+	3	355	c.26T>C	c.(25-27)tTc>tCc	p.F9S	LPHN3_ENST00000512091.2_Missense_Mutation_p.F9S|LPHN3_ENST00000508946.1_Missense_Mutation_p.F9S|LPHN3_ENST00000514996.1_Missense_Mutation_p.F9S|LPHN3_ENST00000511324.1_Missense_Mutation_p.F9S|LPHN3_ENST00000504896.1_Missense_Mutation_p.F9S|LPHN3_ENST00000514157.1_Missense_Mutation_p.F9S|LPHN3_ENST00000506720.1_Missense_Mutation_p.F9S|LPHN3_ENST00000545650.1_Missense_Mutation_p.F9S|LPHN3_ENST00000506700.1_Missense_Mutation_p.F9S|LPHN3_ENST00000507164.1_Missense_Mutation_p.F9S|LPHN3_ENST00000508693.1_Missense_Mutation_p.F9S|LPHN3_ENST00000507625.1_Missense_Mutation_p.F9S|LPHN3_ENST00000509896.1_Missense_Mutation_p.F9S|LPHN3_ENST00000506746.1_Missense_Mutation_p.F9S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	9					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTAATTTTCATGATGCTC	0.363																																																	0								ENSG00000150471						158.0	148.0	151.0					4																	62363037		1852	4111	5963	LPHN3	SO:0001583	missense	0			-	HGNC	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.26T>C	4.37:g.62363037T>C	ENSP00000422533:p.Phe9Ser	Somatic	0	59	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.F9S	ENST00000514591.1	37	c.26	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	T	6.738	0.505031	0.12822	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70045	-0.43;-0.42;-0.45;-0.45;-0.43;-0.42;-0.45;-0.45;-0.42;-0.43;-0.42;-0.42;-0.42;-0.42;-0.42	4.91	2.41	0.29592	.	.	.	.	.	T	0.44477	0.1295	N	0.19112	0.55	0.21220	N	0.999752	B;B;B	0.27765	0.013;0.188;0.009	B;B;B	0.17979	0.012;0.02;0.01	T	0.20107	-1.0285	9	0.22109	T	0.4	.	5.9427	0.19201	0.0:0.0859:0.1657:0.7484	.	9;9;9	E9PE04;E7EN28;Q9HAR2-2	.;.;.	S	9	ENSP00000423388:F9S;ENSP00000422533:F9S;ENSP00000423787:F9S;ENSP00000425033:F9S;ENSP00000424120:F9S;ENSP00000439831:F9S;ENSP00000421476:F9S;ENSP00000424030:F9S;ENSP00000421372:F9S;ENSP00000425201:F9S;ENSP00000423434:F9S;ENSP00000421627:F9S;ENSP00000420931:F9S;ENSP00000425884:F9S;ENSP00000424258:F9S	ENSP00000280009:F9S	F	+	2	0	LPHN3	62045632	1.000000	0.71417	0.631000	0.29282	0.019000	0.09904	2.391000	0.44424	0.223000	0.20920	-0.379000	0.06801	TTC	-	NULL		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	protein_coding	OTTHUMT00000361765.1	T		-		62363037	+1	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	SNP	0.999	C
CHD3	1107	genome.wustl.edu	37	17	7802799	7802799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr17:7802799G>T	ENST00000330494.7	+	15	2632	c.2482G>T	c.(2482-2484)Gag>Tag	p.E828*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.E887*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.E828*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	828	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCATTCGTGAGAATGAATT	0.483																																																	0								ENSG00000170004						131.0	128.0	129.0					17																	7802799		2203	4300	6503	CHD3	SO:0001587	stop_gained	0			-	HGNC	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2482G>T	17.37:g.7802799G>T	ENSP00000332628:p.Glu828*	Somatic	0	42	0.00		0.4955629421895401	15	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E828*	ENST00000330494.7	37	c.2482	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	40	7.919312	0.98560	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	5.1	5.1	0.69264	.	0.000000	0.46758	D	0.000279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-35.2494	19.0554	0.93062	0.0:0.0:1.0:0.0	.	.	.	.	X	887;828;828	.	ENSP00000332628:E828X	E	+	1	0	CHD3	7743524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	GAG	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.483	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	protein_coding	OTTHUMT00000318050.1	G	NM_001005273	-		7802799	+1	no_errors	ENST00000330494	ensembl	human	known	74_37	nonsense	SNP	1.000	T
ZDHHC8P1	150244	genome.wustl.edu	37	22	23733545	23733555	+	RNA	DEL	CCTTTTTTTTT	CCTTTTTTTTT	-	rs386820063|rs56329911|rs58808677|rs55990269|rs555973282|rs11326923	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	CCTTTTTTTTT	CCTTTTTTTTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr22:23733545_23733555delCCTTTTTTTTT	ENST00000255890.4	-	0	1619_1629									zinc finger, DHHC-type containing 8 pseudogene 1																		TCCCGTGAGGCCtttttttttttttttttga	0.545																																																	0								ENSG00000133519																																			ZDHHC8P1			0				HGNC			22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23733545_23733555delCCTTTTTTTTT		Somatic	NA	NA	NA		0.4955629421895401	6	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			-	-		0.545	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	pseudogene	OTTHUMT00000319397.1	CCTTTTTTTTT	NR_003950			23733555	-1	no_errors	ENST00000255890	ensembl	human	known	74_37	rna	DEL	0.009:0.003:0.003:0.002:0.001:0.001:0.001:0.000:0.000:0.012:0.011	-
TARDBP	23435	genome.wustl.edu	37	1	11084334	11084334	+	IGR	DEL	T	T	-	rs566657331	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr1:11084334delT	ENST00000240185.3	+	0	2748				TARDBP_ENST00000480464.1_3'UTR	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAAGTGAAAATTTTTTTTTTT	0.383																																																	0								ENSG00000120948																																			TARDBP	SO:0001628	intergenic_variant	0				HGNC	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120		1.37:g.11084334delT		Somatic	0	10	0.00		0.4955629421895401	25	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000240185.3	37	NULL	CCDS122.1	1																																																																																			-	-		0.383	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARDBP	protein_coding	OTTHUMT00000006063.1	T	NM_007375			11084334	+1	no_errors	ENST00000480464	ensembl	human	known	74_37	rna	DEL	0.289	-
RP11-725P16.2	0	genome.wustl.edu	37	2	133104171	133104172	+	lincRNA	INS	-	-	TT	rs398080609|rs397706501|rs564250029|rs59092614	byFrequency	TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr2:133104171_133104172insTT	ENST00000608279.1	-	0	698_699																											GGTTGCATCTGTTTTTTTTTGT	0.436																																																	0								ENSG00000272769																																			RP11-725P16.2			0				Clone_based_vega_gene																													2.37:g.133104178_133104179dupTT		Somatic	0	11	0.00		0.4955629421895401	10	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000608279.1	37	NULL		2																																																																																			-	-		0.436	RP11-725P16.2-001	KNOWN	basic	lincRNA	ENSG00000272769	lincRNA	OTTHUMT00000472122.1	-				133104172	-1	no_errors	ENST00000608279	ensembl	human	known	74_37	rna	INS	0.046:0.010	TT
CTAGE4	100128553	genome.wustl.edu	37	7	143882454	143882454	+	Missense_Mutation	SNP	A	A	G	rs199890465		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr7:143882454A>G	ENST00000486333.1	+	1	1896	c.1858A>G	c.(1858-1860)Act>Gct	p.T620A		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	620						integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TCCTGATTCAACTCTTCCTCC	0.453																																																	0								ENSG00000225932						0.0	1.0	1.0					7																	143882454		0	5	5	CTAGE4	SO:0001583	missense	0			-	HGNC	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 4"""	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1858A>G	7.37:g.143882454A>G	ENSP00000419539:p.Thr620Ala	Somatic	0	11	0.00		0.4955629421895401	0	100.00	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	A8K871|O95046	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_tRNA-bd_arm	p.T620A	ENST00000486333.1	37	c.1858	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	1.759	-0.487290	0.04352	.	.	ENSG00000225932	ENST00000486333	T	0.59638	0.25	.	.	.	.	.	.	.	.	T	0.11965	0.0291	N	0.00162	-1.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	7	0.02654	T	1	.	.	.	.	.	620	Q8IX94	CTGE4_HUMAN	A	620	ENSP00000419539:T620A	ENSP00000419539:T620A	T	+	1	0	CTAGE4	143513387	0.869000	0.29996	0.052000	0.19188	0.053000	0.15095	-0.081000	0.11321	-1.345000	0.02214	-1.352000	0.01234	ACT	-	NULL		0.453	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	protein_coding	OTTHUMT00000349970.1	A	NM_198495	rs199890465		143882454	+1	no_errors	ENST00000486333	ensembl	human	known	74_37	missense	SNP	0.063	G
DPP3	10072	genome.wustl.edu	37	11	66249858	66249859	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chr11:66249858_66249859insT	ENST00000360510.2	+	2	252_253	c.187_188insT	c.(187-189)ctcfs	p.L63fs	DPP3_ENST00000453114.1_Frame_Shift_Ins_p.L63fs|CTD-3074O7.5_ENST00000525142.1_RNA|DPP3_ENST00000532677.1_Frame_Shift_Ins_p.L82fs|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.L63fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.L63fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.L83fs|CTD-3074O7.5_ENST00000533502.1_RNA			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	63					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTATGCTCTGCTCAGCCGCCTC	0.644																																																	0								ENSG00000254986																																			DPP3	SO:0001589	frameshift_variant	0				HGNC	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.188dupT	11.37:g.66249859_66249859dupT	ENSP00000353701:p.Leu63fs	Somatic	0	39	0.00		0.4955629421895401	2	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pirsf_Dipeptidyl-peptase3	p.S64fs	ENST00000360510.2	37	c.187_188	CCDS8141.1	11																																																																																			-	pirsf_Dipeptidyl-peptase3		0.644	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	-				66249859	+1	no_errors	ENST00000360510	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	T
F8	2157	genome.wustl.edu	37	X	154158427	154158428	+	Frame_Shift_Ins	INS	-	-	T	rs387906450		TCGA-DX-A7EO-01A-11D-A36J-09	TCGA-DX-A7EO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47ab4d85-5769-476e-ac23-1784e08c7f9a	2ffcc5f0-8943-482f-ac54-c8491c0d4a0f	g.chrX:154158427_154158428insT	ENST00000360256.4	-	14	3837_3838	c.3637_3638insA	c.(3637-3639)attfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTCCTGAATTTTTTTTTCT	0.327																																																	0			GRCh37	CD930955|CI962274	F8	D|I		ENSG00000185010																																			F8	SO:0001589	frameshift_variant	0				HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3638dupA	X.37:g.154158436_154158436dupT	ENSP00000353393:p.Ile1213fs	Somatic	0	37	0.00		0.4955629421895401	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	Q14286|Q5HY69	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I1213fs	ENST00000360256.4	37	c.3638_3637	CCDS35457.1	X																																																																																			-	NULL		0.327	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	-				154158428	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	frame_shift_ins	INS	0.011:0.000	T
