#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA1	19	genome.wustl.edu	37	9	107581011	107581011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr9:107581011delT	ENST00000374736.3	-	23	3789	c.3395delA	c.(3394-3396)aagfs	p.K1133fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1133					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CACATCTTTCTTGACCAAGGT	0.522																																						dbGAP											0													141.0	125.0	130.0					9																	107581011		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3395delA	9.37:g.107581011delT	ENSP00000363868:p.Lys1133fs		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K1132fs	ENST00000374736.3	37	c.3395	CCDS6762.1	9																																																																																			ABCA1	-	NULL	ENSG00000165029		0.522	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	123	0.00	0	T	NM_005502		107581011	107581011	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	frame_shift_del	103	19.53	25	DEL	1.000	-
ABCA1	19	genome.wustl.edu	37	9	107581011	107581011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr9:107581011delT	ENST00000374736.3	-	23	3789	c.3395delA	c.(3394-3396)aagfs	p.K1133fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1133					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CACATCTTTCTTGACCAAGGT	0.522																																						dbGAP											0													141.0	125.0	130.0					9																	107581011		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3395delA	9.37:g.107581011delT	ENSP00000363868:p.Lys1133fs		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K1132fs	ENST00000374736.3	37	c.3395	CCDS6762.1	9																																																																																			ABCA1	-	NULL	ENSG00000165029		0.522	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	92	0.00	0	T	NM_005502		107581011	107581011	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	frame_shift_del	103	19.53	25	DEL	1.000	-
AFTPH	54812	genome.wustl.edu	37	2	64780391	64780391	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr2:64780391G>A	ENST00000422803.1	+	2	2097	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	AFTPH_ENST00000238856.4_Missense_Mutation_p.E595K|AFTPH_ENST00000238855.7_Missense_Mutation_p.E595K|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Missense_Mutation_p.E226K|AFTPH_ENST00000409933.1_Missense_Mutation_p.E595K			Q6ULP2	AFTIN_HUMAN	aftiphilin	595					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCAGGCTACTGAATCTCATCA	0.453																																						dbGAP											0													67.0	66.0	66.0					2																	64780391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1783G>A	2.37:g.64780391G>A	ENSP00000397726:p.Glu595Lys		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.E595K	ENST00000422803.1	37	c.1783		2	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312547	0.60414	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.48201	1.79;1.8;1.8;1.8;0.82	6.01	6.01	0.97437	.	0.244141	0.38164	N	0.001794	T	0.65091	0.2658	L	0.57536	1.79	0.45515	D	0.998477	D;D;D;D	0.71674	0.997;0.997;0.998;0.998	D;D;D;D	0.78314	0.942;0.942;0.986;0.991	T	0.61292	-0.7092	10	0.42905	T	0.14	-15.0431	15.9414	0.79756	0.0:0.1341:0.8659:0.0	.	595;595;595;595	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	595;595;595;595;226	ENSP00000238856:E595K;ENSP00000397726:E595K;ENSP00000238855:E595K;ENSP00000387071:E595K;ENSP00000386913:E226K	ENSP00000238855:E595K	E	+	1	0	AFTPH	64633895	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.565000	0.45939	2.861000	0.98227	0.650000	0.86243	GAA	AFTPH	-	NULL	ENSG00000119844		0.453	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		128	0.78	1	G	NM_017657		64780391	64780391	+1	no_errors	ENST00000422803	ensembl	human	known	69_37n	missense	144	16.67	29	SNP	0.977	A
AFTPH	54812	genome.wustl.edu	37	2	64780391	64780391	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr2:64780391G>A	ENST00000422803.1	+	2	2097	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	AFTPH_ENST00000238856.4_Missense_Mutation_p.E595K|AFTPH_ENST00000238855.7_Missense_Mutation_p.E595K|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Missense_Mutation_p.E226K|AFTPH_ENST00000409933.1_Missense_Mutation_p.E595K			Q6ULP2	AFTIN_HUMAN	aftiphilin	595					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCAGGCTACTGAATCTCATCA	0.453																																						dbGAP											0													67.0	66.0	66.0					2																	64780391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1783G>A	2.37:g.64780391G>A	ENSP00000397726:p.Glu595Lys		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.E595K	ENST00000422803.1	37	c.1783		2	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312547	0.60414	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.48201	1.79;1.8;1.8;1.8;0.82	6.01	6.01	0.97437	.	0.244141	0.38164	N	0.001794	T	0.65091	0.2658	L	0.57536	1.79	0.45515	D	0.998477	D;D;D;D	0.71674	0.997;0.997;0.998;0.998	D;D;D;D	0.78314	0.942;0.942;0.986;0.991	T	0.61292	-0.7092	10	0.42905	T	0.14	-15.0431	15.9414	0.79756	0.0:0.1341:0.8659:0.0	.	595;595;595;595	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	K	595;595;595;595;226	ENSP00000238856:E595K;ENSP00000397726:E595K;ENSP00000238855:E595K;ENSP00000387071:E595K;ENSP00000386913:E226K	ENSP00000238855:E595K	E	+	1	0	AFTPH	64633895	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.565000	0.45939	2.861000	0.98227	0.650000	0.86243	GAA	AFTPH	-	NULL	ENSG00000119844		0.453	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		206	0.00	0	G	NM_017657		64780391	64780391	+1	no_errors	ENST00000422803	ensembl	human	known	69_37n	missense	144	16.67	29	SNP	0.977	A
C1orf198	84886	genome.wustl.edu	37	1	230979500	230979500	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr1:230979500A>G	ENST00000366663.5	-	3	667	c.527T>C	c.(526-528)cTg>cCg	p.L176P	C1orf198_ENST00000470540.1_Missense_Mutation_p.L138P|C1orf198_ENST00000523410.1_Missense_Mutation_p.L46P|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	176						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CAGGGCGTCCAGGCTGGAGGA	0.672																																						dbGAP											0													80.0	89.0	86.0					1																	230979500		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.527T>C	1.37:g.230979500A>G	ENSP00000355623:p.Leu176Pro		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.L176P	ENST00000366663.5	37	c.527	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472526	0.26423	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.33216	1.48;1.48;1.42	4.82	0.998	0.19857	.	0.597927	0.15118	N	0.279573	T	0.22742	0.0549	L	0.51422	1.61	0.34254	D	0.679135	B	0.11235	0.004	B	0.11329	0.006	T	0.15122	-1.0448	10	0.29301	T	0.29	-5.4265	4.5559	0.12136	0.3823:0.1935:0.4242:0.0	.	176	Q9H425	CA198_HUMAN	P	176;138;46;133	ENSP00000355623:L176P;ENSP00000428172:L138P;ENSP00000430967:L46P	ENSP00000355623:L176P	L	-	2	0	C1orf198	229046123	1.000000	0.71417	0.950000	0.38849	0.866000	0.49608	2.039000	0.41193	0.225000	0.20959	0.379000	0.24179	CTG	C1orf198	-	NULL	ENSG00000119280		0.672	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	181	0.00	0	A	NM_032800		230979500	230979500	-1	no_errors	ENST00000366663	ensembl	human	known	69_37n	missense	196	23.26	60	SNP	0.131	G
C1orf198	84886	genome.wustl.edu	37	1	230979500	230979500	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr1:230979500A>G	ENST00000366663.5	-	3	667	c.527T>C	c.(526-528)cTg>cCg	p.L176P	C1orf198_ENST00000470540.1_Missense_Mutation_p.L138P|C1orf198_ENST00000523410.1_Missense_Mutation_p.L46P|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	176						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CAGGGCGTCCAGGCTGGAGGA	0.672																																						dbGAP											0													80.0	89.0	86.0					1																	230979500		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.527T>C	1.37:g.230979500A>G	ENSP00000355623:p.Leu176Pro		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.L176P	ENST00000366663.5	37	c.527	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.472526	0.26423	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.33216	1.48;1.48;1.42	4.82	0.998	0.19857	.	0.597927	0.15118	N	0.279573	T	0.22742	0.0549	L	0.51422	1.61	0.34254	D	0.679135	B	0.11235	0.004	B	0.11329	0.006	T	0.15122	-1.0448	10	0.29301	T	0.29	-5.4265	4.5559	0.12136	0.3823:0.1935:0.4242:0.0	.	176	Q9H425	CA198_HUMAN	P	176;138;46;133	ENSP00000355623:L176P;ENSP00000428172:L138P;ENSP00000430967:L46P	ENSP00000355623:L176P	L	-	2	0	C1orf198	229046123	1.000000	0.71417	0.950000	0.38849	0.866000	0.49608	2.039000	0.41193	0.225000	0.20959	0.379000	0.24179	CTG	C1orf198	-	NULL	ENSG00000119280		0.672	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	125	0.00	0	A	NM_032800		230979500	230979500	-1	no_errors	ENST00000366663	ensembl	human	known	69_37n	missense	196	23.26	60	SNP	0.131	G
CLNK	116449	genome.wustl.edu	37	4	10566399	10566399	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr4:10566399T>C	ENST00000226951.6	-	7	534	c.295A>G	c.(295-297)Aca>Gca	p.T99A	CLNK_ENST00000507719.1_Missense_Mutation_p.T57A|CLNK_ENST00000442825.2_Missense_Mutation_p.T57A	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	99					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AAATAGTGTGTATCTATGCAA	0.418																																					GBM(87;402 1286 6949 13902 35851)	dbGAP											0													152.0	143.0	146.0					4																	10566399		1956	4147	6103	-	-	-	SO:0001583	missense	0			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.295A>G	4.37:g.10566399T>C	ENSP00000226951:p.Thr99Ala		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.T99A	ENST00000226951.6	37	c.295	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262432	0.23051	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.51325	1.75;0.71;0.71	5.39	5.39	0.77823	.	0.561230	0.16557	N	0.209235	T	0.41190	0.1148	L	0.34521	1.04	0.22835	N	0.998677	B;B	0.34181	0.44;0.089	B;B	0.38327	0.271;0.061	T	0.37267	-0.9713	10	0.41790	T	0.15	-7.1445	12.1529	0.54059	0.0:0.0:0.0:1.0	.	57;99	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	A	99;99;57;57	ENSP00000226951:T99A;ENSP00000390744:T57A;ENSP00000427208:T57A	ENSP00000226951:T99A	T	-	1	0	CLNK	10175497	0.987000	0.35691	0.558000	0.28319	0.029000	0.11900	3.448000	0.52943	2.186000	0.69663	0.524000	0.50904	ACA	CLNK	-	NULL	ENSG00000109684		0.418	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	64	0.00	0	T	NM_052964		10566399	10566399	-1	no_errors	ENST00000226951	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	0.623	C
CLNK	116449	genome.wustl.edu	37	4	10566399	10566399	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr4:10566399T>C	ENST00000226951.6	-	7	534	c.295A>G	c.(295-297)Aca>Gca	p.T99A	CLNK_ENST00000507719.1_Missense_Mutation_p.T57A|CLNK_ENST00000442825.2_Missense_Mutation_p.T57A	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	99					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AAATAGTGTGTATCTATGCAA	0.418																																					GBM(87;402 1286 6949 13902 35851)	dbGAP											0													152.0	143.0	146.0					4																	10566399		1956	4147	6103	-	-	-	SO:0001583	missense	0			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.295A>G	4.37:g.10566399T>C	ENSP00000226951:p.Thr99Ala		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.T99A	ENST00000226951.6	37	c.295	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262432	0.23051	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.51325	1.75;0.71;0.71	5.39	5.39	0.77823	.	0.561230	0.16557	N	0.209235	T	0.41190	0.1148	L	0.34521	1.04	0.22835	N	0.998677	B;B	0.34181	0.44;0.089	B;B	0.38327	0.271;0.061	T	0.37267	-0.9713	10	0.41790	T	0.15	-7.1445	12.1529	0.54059	0.0:0.0:0.0:1.0	.	57;99	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	A	99;99;57;57	ENSP00000226951:T99A;ENSP00000390744:T57A;ENSP00000427208:T57A	ENSP00000226951:T99A	T	-	1	0	CLNK	10175497	0.987000	0.35691	0.558000	0.28319	0.029000	0.11900	3.448000	0.52943	2.186000	0.69663	0.524000	0.50904	ACA	CLNK	-	NULL	ENSG00000109684		0.418	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	66	0.00	0	T	NM_052964		10566399	10566399	-1	no_errors	ENST00000226951	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	0.623	C
DDB1	1642	genome.wustl.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)gccfs	p.A229fs	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.49								Nucleotide excision repair (NER)																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.686dupG	11.37:g.61093166_61093166dupC	ENSP00000301764:p.Ala229fs		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Frame_Shift_Ins	INS	pfam_Cleavage/polyA-sp_fac_asu_C	p.A229fs	ENST00000301764.7	37	c.686_685	CCDS31576.1	11																																																																																			DDB1	-	NULL	ENSG00000167986		0.490	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	25	0.00	0	-	NM_001923		61093159	61093160	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	frame_shift_ins	36	12.20	5	INS	1.000:1.000	C
DHX36	170506	genome.wustl.edu	37	3	153995455	153995455	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr3:153995455C>T	ENST00000496811.1	-	23	2700	c.2620G>A	c.(2620-2622)Gtt>Att	p.V874I	DHX36_ENST00000329463.5_Missense_Mutation_p.V860I|DHX36_ENST00000544526.1_Missense_Mutation_p.V860I|DHX36_ENST00000308361.6_Missense_Mutation_p.V845I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	874					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCACATTAACAGATTTAGGA	0.338																																						dbGAP											0													98.0	96.0	97.0					3																	153995455		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2620G>A	3.37:g.153995455C>T	ENSP00000417078:p.Val874Ile		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V874I	ENST00000496811.1	37	c.2620	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.247468	0.95305	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.04119	3.86;3.78;3.7;3.7;3.75	5.91	5.91	0.95273	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.65815	0.994;0.972;0.995	D;P;D	0.64237	0.919;0.801;0.923	T	0.00012	-1.2424	10	0.46703	T	0.11	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	860;845;874	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	I	874;845;860;860;788	ENSP00000417078:V874I;ENSP00000309296:V845I;ENSP00000444247:V860I;ENSP00000330113:V860I;ENSP00000419862:V788I	ENSP00000309296:V845I	V	-	1	0	DHX36	155478149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.329000	0.79170	2.794000	0.96219	0.655000	0.94253	GTT	DHX36	-	pfam_DUF1605	ENSG00000174953		0.338	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	44	0.00	0	C	NM_020865		153995455	153995455	-1	no_errors	ENST00000496811	ensembl	human	known	69_37n	missense	52	49.51	51	SNP	1.000	T
DHX36	170506	genome.wustl.edu	37	3	153995455	153995455	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr3:153995455C>T	ENST00000496811.1	-	23	2700	c.2620G>A	c.(2620-2622)Gtt>Att	p.V874I	DHX36_ENST00000329463.5_Missense_Mutation_p.V860I|DHX36_ENST00000544526.1_Missense_Mutation_p.V860I|DHX36_ENST00000308361.6_Missense_Mutation_p.V845I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	874					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCACATTAACAGATTTAGGA	0.338																																						dbGAP											0													98.0	96.0	97.0					3																	153995455		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2620G>A	3.37:g.153995455C>T	ENSP00000417078:p.Val874Ile		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V874I	ENST00000496811.1	37	c.2620	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.247468	0.95305	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.04119	3.86;3.78;3.7;3.7;3.75	5.91	5.91	0.95273	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.65815	0.994;0.972;0.995	D;P;D	0.64237	0.919;0.801;0.923	T	0.00012	-1.2424	10	0.46703	T	0.11	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	860;845;874	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	I	874;845;860;860;788	ENSP00000417078:V874I;ENSP00000309296:V845I;ENSP00000444247:V860I;ENSP00000330113:V860I;ENSP00000419862:V788I	ENSP00000309296:V845I	V	-	1	0	DHX36	155478149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.329000	0.79170	2.794000	0.96219	0.655000	0.94253	GTT	DHX36	-	pfam_DUF1605	ENSG00000174953		0.338	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	158	0.00	0	C	NM_020865		153995455	153995455	-1	no_errors	ENST00000496811	ensembl	human	known	69_37n	missense	52	49.51	51	SNP	1.000	T
DSC2	1824	genome.wustl.edu	37	18	28669470	28669470	+	Missense_Mutation	SNP	C	C	A	rs146754448		TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr18:28669470C>A	ENST00000280904.6	-	5	1005	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L	DSC2_ENST00000251081.6_Missense_Mutation_p.V188L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	188	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTCTCTCCACATAAAATAAA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		14033	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													104.0	104.0	104.0					18																	28669470		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.562G>T	18.37:g.28669470C>A	ENSP00000280904:p.Val188Leu			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.V188L	ENST00000280904.6	37	c.562	CCDS11892.1	18	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.51	2.853771	0.51270	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.57107	0.42;0.42	6.16	3.04	0.35103	Cadherin (5);Cadherin-like (1);	0.807523	0.09776	N	0.757355	T	0.39064	0.1064	N	0.20328	0.56	0.33159	D	0.546677	B;B	0.23990	0.095;0.078	B;B	0.31390	0.129;0.079	T	0.50259	-0.8849	10	0.87932	D	0	.	5.774	0.18269	0.0:0.5456:0.0:0.4544	.	188;188	Q02487;Q02487-2	DSC2_HUMAN;.	L	188;188;201	ENSP00000251081:V188L;ENSP00000280904:V188L	ENSP00000251081:V188L	V	-	1	0	DSC2	26923468	0.883000	0.30277	1.000000	0.80357	0.959000	0.62525	0.263000	0.18478	0.907000	0.36646	0.650000	0.86243	GTG	DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000134755		0.388	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	76	0.00	0	C	NM_004949		28669470	28669470	-1	no_errors	ENST00000280904	ensembl	human	known	69_37n	missense	43	33.85	22	SNP	0.997	A
EIF4G3	8672	genome.wustl.edu	37	1	21306904	21306905	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr1:21306904_21306905insG	ENST00000264211.8	-	4	441_442	c.247_248insC	c.(247-249)caafs	p.Q83fs	EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.Q94fs|EIF4G3_ENST00000602326.1_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.Q90fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.Q83fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.Q83fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	83					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGATATTGTTGGGGGGGCCCA	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.248dupC	1.37:g.21306911_21306911dupG	ENSP00000264211:p.Gln83fs		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Ins	INS	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.Q90fs	ENST00000264211.8	37	c.269_268	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.441	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	66	0.00	0	-	NM_003760		21306904	21306905	-1	no_errors	ENST00000374937	ensembl	human	known	69_37n	frame_shift_ins	34	15.00	6	INS	1.000:1.000	G
SPATA31D5P	347127	genome.wustl.edu	37	9	84533988	84533988	+	RNA	SNP	C	C	T	rs201817091	byFrequency	TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr9:84533988C>T	ENST00000527857.1	+	0	4010					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GGATGCAGGGCTGGGGACATC	0.502													-|||	115	0.0229633	0.0779	0.0086	5008	,	,		16459	0.0		0.001	False		,,,				2504	0.0051					dbGAP											0																																										-	-	-			0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533988C>T				RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.502	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	93	0.00	0	C	NR_026851		84533988	84533988	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	10	23.08	3	SNP	0.000	T
FRYL	285527	genome.wustl.edu	37	4	48588708	48588708	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr4:48588708A>G	ENST00000503238.1	-	16	1677	c.1678T>C	c.(1678-1680)Tgt>Cgt	p.C560R	FRYL_ENST00000506685.1_Missense_Mutation_p.C266R|FRYL_ENST00000358350.4_Missense_Mutation_p.C560R|FRYL_ENST00000537810.1_Missense_Mutation_p.C560R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.C560R			O94915	FRYL_HUMAN	FRY-like	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCAGCAATACAAGTTCTAAAC	0.343																																						dbGAP											0													132.0	125.0	127.0					4																	48588708		1835	4081	5916	-	-	-	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1678T>C	4.37:g.48588708A>G	ENSP00000426064:p.Cys560Arg		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C560R	ENST00000503238.1	37	c.1678	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295136	0.81025	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.66099	3.51;3.51;3.51;3.51;-0.19	5.74	5.74	0.90152	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.81049	0.4742	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.91635	0.99;0.999	D	0.84076	0.0382	10	0.87932	D	0	.	16.0368	0.80635	1.0:0.0:0.0:0.0	.	560;560	F2Z2S2;O94915	.;FRYL_HUMAN	R	560;560;560;560;266	ENSP00000426064:C560R;ENSP00000351113:C560R;ENSP00000441114:C560R;ENSP00000421584:C560R;ENSP00000425592:C266R	ENSP00000351113:C560R	C	-	1	0	FRYL	48283465	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	8.876000	0.92379	2.183000	0.69458	0.533000	0.62120	TGT	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	341	0.00	0	A			48588708	48588708	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	missense	149	40.16	100	SNP	1.000	G
HIST1H2AI	8329	genome.wustl.edu	37	6	27776209	27776209	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr6:27776209C>G	ENST00000358739.3	+	1	311	c.222C>G	c.(220-222)aaC>aaG	p.N74K	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	74						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						CCCGCGACAACAAGAAGACTC	0.657																																						dbGAP											0													27.0	29.0	28.0					6																	27776209		2198	4275	6473	-	-	-	SO:0001583	missense	0			Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.222C>G	6.37:g.27776209C>G	ENSP00000351589:p.Asn74Lys		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.N74K	ENST00000358739.3	37	c.222	CCDS4626.1	6	.	.	.	.	.	.	.	.	.	.	.	23.1	4.376685	0.82682	.	.	ENSG00000196747	ENST00000358739	T	0.68903	-0.36	4.57	4.57	0.56435	.	0.000000	0.43747	D	0.000528	T	0.75481	0.3855	.	.	.	0.46241	D	0.998949	.	.	.	.	.	.	T	0.79325	-0.1850	7	0.87932	D	0	.	17.22	0.86955	0.0:1.0:0.0:0.0	.	.	.	.	K	74	ENSP00000351589:N74K	ENSP00000351589:N74K	N	+	3	2	HIST1H2AI	27884188	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.313000	0.43735	2.462000	0.83206	0.561000	0.74099	AAC	HIST1H2AI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000196747		0.657	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AI	HGNC	protein_coding	OTTHUMT00000040152.1	184	0.00	0	C	NM_003509		27776209	27776209	+1	no_errors	ENST00000358739	ensembl	human	known	69_37n	missense	40	37.50	24	SNP	1.000	G
HIST1H2AI	8329	genome.wustl.edu	37	6	27776209	27776209	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr6:27776209C>G	ENST00000358739.3	+	1	311	c.222C>G	c.(220-222)aaC>aaG	p.N74K	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	74						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						CCCGCGACAACAAGAAGACTC	0.657																																						dbGAP											0													27.0	29.0	28.0					6																	27776209		2198	4275	6473	-	-	-	SO:0001583	missense	0			Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.222C>G	6.37:g.27776209C>G	ENSP00000351589:p.Asn74Lys		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.N74K	ENST00000358739.3	37	c.222	CCDS4626.1	6	.	.	.	.	.	.	.	.	.	.	.	23.1	4.376685	0.82682	.	.	ENSG00000196747	ENST00000358739	T	0.68903	-0.36	4.57	4.57	0.56435	.	0.000000	0.43747	D	0.000528	T	0.75481	0.3855	.	.	.	0.46241	D	0.998949	.	.	.	.	.	.	T	0.79325	-0.1850	7	0.87932	D	0	.	17.22	0.86955	0.0:1.0:0.0:0.0	.	.	.	.	K	74	ENSP00000351589:N74K	ENSP00000351589:N74K	N	+	3	2	HIST1H2AI	27884188	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.313000	0.43735	2.462000	0.83206	0.561000	0.74099	AAC	HIST1H2AI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000196747		0.657	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AI	HGNC	protein_coding	OTTHUMT00000040152.1	40	0.00	0	C	NM_003509		27776209	27776209	+1	no_errors	ENST00000358739	ensembl	human	known	69_37n	missense	40	37.50	24	SNP	1.000	G
KANK2	25959	genome.wustl.edu	37	19	11289393	11289393	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr19:11289393A>G	ENST00000586659.1	-	5	1567	c.1253T>C	c.(1252-1254)cTc>cCc	p.L418P	KANK2_ENST00000355150.5_Missense_Mutation_p.L418P|KANK2_ENST00000589894.1_Missense_Mutation_p.L418P|KANK2_ENST00000589359.1_Missense_Mutation_p.L418P|KANK2_ENST00000432929.2_Missense_Mutation_p.L418P			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	418					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AACTTCTGGGAGGCCTGGAGG	0.607																																						dbGAP											0													45.0	49.0	47.0					19																	11289393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1253T>C	19.37:g.11289393A>G	ENSP00000465650:p.Leu418Pro		B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L418P	ENST00000586659.1	37	c.1253	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	A	6.780	0.512925	0.12944	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37752	1.18;1.18	3.98	-3.5	0.04710	.	1.159190	0.06644	N	0.761519	T	0.17662	0.0424	N	0.11927	0.2	0.19300	N	0.999974	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22730	-1.0208	10	0.27785	T	0.31	-8.6985	6.0984	0.20033	0.282:0.0:0.5547:0.1633	.	418;418	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	P	418	ENSP00000395650:L418P;ENSP00000347276:L418P	ENSP00000347276:L418P	L	-	2	0	KANK2	11150393	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.206000	0.09398	-0.732000	0.04856	-0.250000	0.11733	CTC	KANK2	-	NULL	ENSG00000197256		0.607	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	12	0.00	0	A	NM_015493		11289393	11289393	-1	no_errors	ENST00000432929	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.000	G
KLHL24	54800	genome.wustl.edu	37	3	183368623	183368623	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr3:183368623A>C	ENST00000454652.2	+	4	865	c.479A>C	c.(478-480)gAg>gCg	p.E160A	KLHL24_ENST00000242810.6_Missense_Mutation_p.E160A|KLHL24_ENST00000476808.1_Missense_Mutation_p.E160A	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	160						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAGTTCTTGGAGGAGCAACTT	0.413																																						dbGAP											0													123.0	111.0	115.0					3																	183368623		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.479A>C	3.37:g.183368623A>C	ENSP00000395012:p.Glu160Ala		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E160A	ENST00000454652.2	37	c.479	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353073	0.61293	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.67523	-0.27;-0.27;-0.27	5.34	5.34	0.76211	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	N	0.12887	0.27	0.80722	D	1	D;P	0.67145	0.996;0.616	D;P	0.77557	0.99;0.53	T	0.63107	-0.6711	10	0.15066	T	0.55	.	15.3088	0.74014	1.0:0.0:0.0:0.0	.	160;160	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	A	160	ENSP00000242810:E160A;ENSP00000395012:E160A;ENSP00000419010:E160A	ENSP00000242810:E160A	E	+	2	0	KLHL24	184851317	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.962000	0.93254	2.024000	0.59613	0.377000	0.23210	GAG	KLHL24	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.413	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2	570	0.87	5	A	NM_017644		183368623	183368623	+1	no_errors	ENST00000242810	ensembl	human	known	69_37n	missense	166	35.27	91	SNP	1.000	C
KLHL24	54800	genome.wustl.edu	37	3	183368623	183368623	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr3:183368623A>C	ENST00000454652.2	+	4	865	c.479A>C	c.(478-480)gAg>gCg	p.E160A	KLHL24_ENST00000242810.6_Missense_Mutation_p.E160A|KLHL24_ENST00000476808.1_Missense_Mutation_p.E160A	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	160						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAGTTCTTGGAGGAGCAACTT	0.413																																						dbGAP											0													123.0	111.0	115.0					3																	183368623		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.479A>C	3.37:g.183368623A>C	ENSP00000395012:p.Glu160Ala		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E160A	ENST00000454652.2	37	c.479	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353073	0.61293	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.67523	-0.27;-0.27;-0.27	5.34	5.34	0.76211	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	N	0.12887	0.27	0.80722	D	1	D;P	0.67145	0.996;0.616	D;P	0.77557	0.99;0.53	T	0.63107	-0.6711	10	0.15066	T	0.55	.	15.3088	0.74014	1.0:0.0:0.0:0.0	.	160;160	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	A	160	ENSP00000242810:E160A;ENSP00000395012:E160A;ENSP00000419010:E160A	ENSP00000242810:E160A	E	+	2	0	KLHL24	184851317	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.962000	0.93254	2.024000	0.59613	0.377000	0.23210	GAG	KLHL24	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.413	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2	188	0.00	0	A	NM_017644		183368623	183368623	+1	no_errors	ENST00000242810	ensembl	human	known	69_37n	missense	166	35.27	91	SNP	1.000	C
LILRA6	79168	genome.wustl.edu	37	19	54745682	54745682	+	Missense_Mutation	SNP	C	C	T	rs111666280	byFrequency	TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr19:54745682C>T	ENST00000396365.2	-	4	467	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	LILRA6_ENST00000391735.3_Missense_Mutation_p.R143Q|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Missense_Mutation_p.R143Q|LILRA6_ENST00000245621.5_Missense_Mutation_p.R143Q|LILRA6_ENST00000419410.2_Missense_Mutation_p.R143Q|LILRA6_ENST00000270464.5_Missense_Mutation_p.R143Q	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	143					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGCCACATCGGAGGGTCAT	0.567																																						dbGAP											0													29.0	50.0	43.0					19																	54745682		2122	4289	6411	-	-	-	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.428G>A	19.37:g.54745682C>T	ENSP00000379651:p.Arg143Gln			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R143Q	ENST00000396365.2	37	c.428	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	C	0.554	-0.848058	0.02651	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;4.09;2.65;2.65	3.38	-6.77	0.01727	Immunoglobulin-like fold (1);	0.513077	0.18054	N	0.153187	T	0.02047	0.0064	N	0.01640	-0.785	0.09310	N	1	B;B;B;B;B;B	0.33000	0.046;0.003;0.332;0.049;0.046;0.393	B;B;B;B;B;B	0.32342	0.008;0.002;0.144;0.015;0.015;0.014	T	0.37454	-0.9705	10	0.02654	T	1	.	0.493	0.00567	0.2783:0.2174:0.3072:0.1971	.	143;143;143;143;143;143	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	Q	143	ENSP00000390120:R143Q;ENSP00000270464:R143Q;ENSP00000411227:R143Q;ENSP00000375615:R143Q;ENSP00000379651:R143Q;ENSP00000245621:R143Q	ENSP00000245621:R143Q	R	-	2	0	LILRA6	59437494	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-1.554000	0.02172	-1.307000	0.02321	0.162000	0.16502	CGA	LILRA6	-	NULL	ENSG00000244482		0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	27	0.00	0	C	NM_024318		54745682	54745682	-1	no_errors	ENST00000270464	ensembl	human	known	69_37n	missense	31	16.22	6	SNP	0.001	T
MAN2B2	23324	genome.wustl.edu	37	4	6590876	6590877	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr4:6590876_6590877insAA	ENST00000285599.3	+	5	705_706	c.669_670insAA	c.(670-672)ttcfs	p.F224fs	MAN2B2_ENST00000504248.1_Frame_Shift_Ins_p.F224fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	224					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCCACATCCCTTTCTCCAACAG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	Exception_encountered	4.37:g.6590876_6590877insAA	ENSP00000285599:p.Phe224fs		Q66MP2|Q86T67	Frame_Shift_Ins	INS	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.F223fs	ENST00000285599.3	37	c.669_670	CCDS33951.1	4																																																																																			MAN2B2	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.559	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	16	0.00	0	-	NM_015274		6590876	6590877	+1	no_errors	ENST00000285599	ensembl	human	known	69_37n	frame_shift_ins	42	33.33	21	INS	0.947:1.000	AA
MAN2B2	23324	genome.wustl.edu	37	4	6590876	6590877	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr4:6590876_6590877insAA	ENST00000285599.3	+	5	705_706	c.669_670insAA	c.(670-672)ttcfs	p.F224fs	MAN2B2_ENST00000504248.1_Frame_Shift_Ins_p.F224fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	224					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCCACATCCCTTTCTCCAACAG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	Exception_encountered	4.37:g.6590876_6590877insAA	ENSP00000285599:p.Phe224fs		Q66MP2|Q86T67	Frame_Shift_Ins	INS	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.F223fs	ENST00000285599.3	37	c.669_670	CCDS33951.1	4																																																																																			MAN2B2	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.559	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	39	0.00	0	-	NM_015274		6590876	6590877	+1	no_errors	ENST00000285599	ensembl	human	known	69_37n	frame_shift_ins	42	33.33	21	INS	0.947:1.000	AA
MDGA1	266727	genome.wustl.edu	37	6	37622129	37622129	+	Silent	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr6:37622129C>T	ENST00000434837.3	-	6	2081	c.903G>A	c.(901-903)cgG>cgA	p.R301R	MDGA1_ENST00000505425.1_Silent_p.R301R|MDGA1_ENST00000297153.7_Silent_p.R301R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	301	Ig-like 3.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGCCAGAGTCCCGGGCCTGCA	0.637																																						dbGAP											0													51.0	53.0	52.0					6																	37622129		2085	4211	6296	-	-	-	SO:0001819	synonymous_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.903G>A	6.37:g.37622129C>T			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.R301	ENST00000434837.3	37	c.903	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000112139		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	23	0.00	0	C			37622129	37622129	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	silent	17	41.38	12	SNP	0.821	T
MDGA1	266727	genome.wustl.edu	37	6	37622129	37622129	+	Silent	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr6:37622129C>T	ENST00000434837.3	-	6	2081	c.903G>A	c.(901-903)cgG>cgA	p.R301R	MDGA1_ENST00000505425.1_Silent_p.R301R|MDGA1_ENST00000297153.7_Silent_p.R301R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	301	Ig-like 3.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGCCAGAGTCCCGGGCCTGCA	0.637																																						dbGAP											0													51.0	53.0	52.0					6																	37622129		2085	4211	6296	-	-	-	SO:0001819	synonymous_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.903G>A	6.37:g.37622129C>T			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.R301	ENST00000434837.3	37	c.903	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000112139		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	22	0.00	0	C			37622129	37622129	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	silent	17	41.38	12	SNP	0.821	T
PAX6	5080	genome.wustl.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													dbGAP											0			GRCh37	CM011452	PAX6	M																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs		Q6N006|Q99413	Frame_Shift_Ins	INS	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.H390fs	ENST00000379132.3	37	c.1167_1166	CCDS31451.1	11																																																																																			PAX6	-	NULL	ENSG00000007372		0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4	31	0.00	0	-	NM_001604		31812316	31812317	-1	no_errors	ENST00000379107	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.017:1.000	G
PELO	53918	genome.wustl.edu	37	5	52097628	52097628	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr5:52097628C>A	ENST00000274311.2	+	3	2097	c.1112C>A	c.(1111-1113)cCc>cAc	p.P371H	ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	371					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TTCCCTGTTCCCGAACTTTCT	0.448																																						dbGAP											0													50.0	53.0	52.0					5																	52097628		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.1112C>A	5.37:g.52097628C>A	ENSP00000274311:p.Pro371His		Q9GZS6|Q9Y306	Missense_Mutation	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.P371H	ENST00000274311.2	37	c.1112	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273344	0.80580	.	.	ENSG00000152684	ENST00000274311	T	0.48201	0.82	5.91	5.91	0.95273	.	0.149794	0.43579	U	0.000551	T	0.67135	0.2861	L	0.60904	1.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.61540	-0.7042	10	0.37606	T	0.19	-2.8573	19.9	0.96981	0.0:1.0:0.0:0.0	.	371	Q9BRX2	PELO_HUMAN	H	371	ENSP00000274311:P371H	ENSP00000274311:P371H	P	+	2	0	PELO	52133385	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	6.123000	0.71614	2.794000	0.96219	0.655000	0.94253	CCC	PELO	-	NULL	ENSG00000152684		0.448	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	66	0.00	0	C	NM_015946		52097628	52097628	+1	no_errors	ENST00000274311	ensembl	human	known	69_37n	missense	43	39.44	28	SNP	1.000	A
PELO	53918	genome.wustl.edu	37	5	52097628	52097628	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr5:52097628C>A	ENST00000274311.2	+	3	2097	c.1112C>A	c.(1111-1113)cCc>cAc	p.P371H	ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000282588.6_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	371					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TTCCCTGTTCCCGAACTTTCT	0.448																																						dbGAP											0													50.0	53.0	52.0					5																	52097628		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.1112C>A	5.37:g.52097628C>A	ENSP00000274311:p.Pro371His		Q9GZS6|Q9Y306	Missense_Mutation	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.P371H	ENST00000274311.2	37	c.1112	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273344	0.80580	.	.	ENSG00000152684	ENST00000274311	T	0.48201	0.82	5.91	5.91	0.95273	.	0.149794	0.43579	U	0.000551	T	0.67135	0.2861	L	0.60904	1.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.61540	-0.7042	10	0.37606	T	0.19	-2.8573	19.9	0.96981	0.0:1.0:0.0:0.0	.	371	Q9BRX2	PELO_HUMAN	H	371	ENSP00000274311:P371H	ENSP00000274311:P371H	P	+	2	0	PELO	52133385	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	6.123000	0.71614	2.794000	0.96219	0.655000	0.94253	CCC	PELO	-	NULL	ENSG00000152684		0.448	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	39	0.00	0	C	NM_015946		52097628	52097628	+1	no_errors	ENST00000274311	ensembl	human	known	69_37n	missense	43	39.44	28	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	68	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	36	54.43	43	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	97	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	36	54.43	43	SNP	1.000	A
RDH16	8608	genome.wustl.edu	37	12	57348901	57348901	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr12:57348901G>A	ENST00000398138.3	-	2	1217	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	121					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AACTCATTGGGAGCCGTGGGC	0.557																																					GBM(179;741 2921 43105 45298)	dbGAP											0													86.0	83.0	84.0					12																	57348901		2081	4214	6295	-	-	-	SO:0001583	missense	0				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.361C>T	12.37:g.57348901G>A	ENSP00000381206:p.Pro121Ser		Q9UNV2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P121S	ENST00000398138.3	37	c.361	CCDS41797.1	12	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543926	0.65198	.	.	ENSG00000139547	ENST00000398138	D	0.93659	-3.26	5.02	5.02	0.67125	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000004	D	0.92166	0.7516	L	0.33339	1.005	0.58432	D	0.99999	P	0.49358	0.923	P	0.49477	0.612	D	0.93292	0.6669	10	0.87932	D	0	.	17.2716	0.87103	0.0:0.0:1.0:0.0	.	121	O75452	RDH16_HUMAN	S	121	ENSP00000381206:P121S	ENSP00000381206:P121S	P	-	1	0	RDH16	55635168	1.000000	0.71417	0.870000	0.34147	0.003000	0.03518	6.388000	0.73195	2.610000	0.88304	0.655000	0.94253	CCC	RDH16	-	pfam_DH_sc/Rdtase_SDR	ENSG00000139547		0.557	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH16	HGNC	protein_coding	OTTHUMT00000410898.1	53	0.00	0	G	NM_003708		57348901	57348901	-1	no_errors	ENST00000398138	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	A
RDH16	8608	genome.wustl.edu	37	12	57348901	57348901	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr12:57348901G>A	ENST00000398138.3	-	2	1217	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	121					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AACTCATTGGGAGCCGTGGGC	0.557																																					GBM(179;741 2921 43105 45298)	dbGAP											0													86.0	83.0	84.0					12																	57348901		2081	4214	6295	-	-	-	SO:0001583	missense	0				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.361C>T	12.37:g.57348901G>A	ENSP00000381206:p.Pro121Ser		Q9UNV2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P121S	ENST00000398138.3	37	c.361	CCDS41797.1	12	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543926	0.65198	.	.	ENSG00000139547	ENST00000398138	D	0.93659	-3.26	5.02	5.02	0.67125	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000004	D	0.92166	0.7516	L	0.33339	1.005	0.58432	D	0.99999	P	0.49358	0.923	P	0.49477	0.612	D	0.93292	0.6669	10	0.87932	D	0	.	17.2716	0.87103	0.0:0.0:1.0:0.0	.	121	O75452	RDH16_HUMAN	S	121	ENSP00000381206:P121S	ENSP00000381206:P121S	P	-	1	0	RDH16	55635168	1.000000	0.71417	0.870000	0.34147	0.003000	0.03518	6.388000	0.73195	2.610000	0.88304	0.655000	0.94253	CCC	RDH16	-	pfam_DH_sc/Rdtase_SDR	ENSG00000139547		0.557	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH16	HGNC	protein_coding	OTTHUMT00000410898.1	40	0.00	0	G	NM_003708		57348901	57348901	-1	no_errors	ENST00000398138	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237947546	237947546	+	Silent	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr1:237947546C>T	ENST00000366574.2	+	90	12851	c.12534C>T	c.(12532-12534)aaC>aaT	p.N4178N	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.N4184N|RYR2_ENST00000542537.1_Silent_p.N4162N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4178					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGTGGTCAACGAAGGCGGAG	0.502																																						dbGAP											0													90.0	93.0	92.0					1																	237947546		1979	4174	6153	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12534C>T	1.37:g.237947546C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.N4184	ENST00000366574.2	37	c.12552	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	265	0.00	0	C	NM_001035		237947546	237947546	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	211	21.85	59	SNP	0.242	T
SLCO3A1	28232	genome.wustl.edu	37	15	92647538	92647538	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr15:92647538C>T	ENST00000318445.6	+	4	989	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R259C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	259					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGACGACCCCCGCTGGATCGG	0.552																																						dbGAP											0													209.0	201.0	203.0					15																	92647538		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.775C>T	15.37:g.92647538C>T	ENSP00000320634:p.Arg259Cys		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.R259C	ENST00000318445.6	37	c.775	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463305	0.84425	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649	T;T	0.53640	0.61;0.61	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);	0.054962	0.85682	D	0.000000	T	0.74673	0.3747	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.85130	0.917;0.855;0.997	T	0.80839	-0.1203	10	0.87932	D	0	.	14.658	0.68847	0.1461:0.8539:0.0:0.0	.	201;259;259	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	C	259;259;52	ENSP00000320634:R259C;ENSP00000387846:R259C	ENSP00000320634:R259C	R	+	1	0	SLCO3A1	90448542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.399000	0.66314	2.456000	0.83038	0.655000	0.94253	CGC	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.552	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	149	0.00	0	C	NM_013272		92647538	92647538	+1	no_errors	ENST00000318445	ensembl	human	known	69_37n	missense	157	20.71	41	SNP	1.000	T
SLCO3A1	28232	genome.wustl.edu	37	15	92647538	92647538	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr15:92647538C>T	ENST00000318445.6	+	4	989	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R259C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	259					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGACGACCCCCGCTGGATCGG	0.552																																						dbGAP											0													209.0	201.0	203.0					15																	92647538		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.775C>T	15.37:g.92647538C>T	ENSP00000320634:p.Arg259Cys		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.R259C	ENST00000318445.6	37	c.775	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463305	0.84425	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649	T;T	0.53640	0.61;0.61	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);	0.054962	0.85682	D	0.000000	T	0.74673	0.3747	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.85130	0.917;0.855;0.997	T	0.80839	-0.1203	10	0.87932	D	0	.	14.658	0.68847	0.1461:0.8539:0.0:0.0	.	201;259;259	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	C	259;259;52	ENSP00000320634:R259C;ENSP00000387846:R259C	ENSP00000320634:R259C	R	+	1	0	SLCO3A1	90448542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.399000	0.66314	2.456000	0.83038	0.655000	0.94253	CGC	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.552	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	340	0.00	0	C	NM_013272		92647538	92647538	+1	no_errors	ENST00000318445	ensembl	human	known	69_37n	missense	157	20.71	41	SNP	1.000	T
MIEF1	54471	genome.wustl.edu	37	22	39910165	39910165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr22:39910165delA	ENST00000325301.2	+	6	1653	c.1229delA	c.(1228-1230)cagfs	p.Q410fs	MIEF1_ENST00000404569.1_Frame_Shift_Del_p.Q410fs|MIEF1_ENST00000402881.1_Frame_Shift_Del_p.Q410fs	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	410					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										CGTTTCCTGCAGGCCTTGAGG	0.567											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													89.0	88.0	88.0					22																	39910165		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1229delA	22.37:g.39910165delA	ENSP00000327124:p.Gln410fs	889	Q7L890|Q9BUI3	Frame_Shift_Del	DEL	NULL	p.Q410fs	ENST00000325301.2	37	c.1229	CCDS13995.1	22																																																																																			SMCR7L	-	NULL	ENSG00000100335		0.567	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	40	0.00	0	A	NM_019008		39910165	39910165	+1	no_errors	ENST00000325301	ensembl	human	known	69_37n	frame_shift_del	77	30.36	34	DEL	1.000	-
MIEF1	54471	genome.wustl.edu	37	22	39910165	39910165	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr22:39910165delA	ENST00000325301.2	+	6	1653	c.1229delA	c.(1228-1230)cagfs	p.Q410fs	MIEF1_ENST00000404569.1_Frame_Shift_Del_p.Q410fs|MIEF1_ENST00000402881.1_Frame_Shift_Del_p.Q410fs	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	410					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										CGTTTCCTGCAGGCCTTGAGG	0.567											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													89.0	88.0	88.0					22																	39910165		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1229delA	22.37:g.39910165delA	ENSP00000327124:p.Gln410fs	889	Q7L890|Q9BUI3	Frame_Shift_Del	DEL	NULL	p.Q410fs	ENST00000325301.2	37	c.1229	CCDS13995.1	22																																																																																			SMCR7L	-	NULL	ENSG00000100335		0.567	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	131	0.00	0	A	NM_019008		39910165	39910165	+1	no_errors	ENST00000325301	ensembl	human	known	69_37n	frame_shift_del	77	30.36	34	DEL	1.000	-
SORCS3	22986	genome.wustl.edu	37	10	106959855	106959855	+	Missense_Mutation	SNP	C	C	G	rs559452374		TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr10:106959855C>G	ENST00000369701.3	+	15	2335	c.2108C>G	c.(2107-2109)aCc>aGc	p.T703S	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	703					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)		GACTATCAGACCTGGCACCTG	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											0													116.0	106.0	109.0					10																	106959855		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2108C>G	10.37:g.106959855C>G	ENSP00000358715:p.Thr703Ser		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.T703S	ENST00000369701.3	37	c.2108	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250820	0.22880	.	.	ENSG00000156395	ENST00000369701	T	0.28895	1.59	6.07	6.07	0.98685	VPS10 (1);	0.053508	0.64402	D	0.000001	T	0.25121	0.0610	L	0.31664	0.95	0.43771	D	0.996294	B	0.24426	0.103	B	0.25506	0.061	T	0.04017	-1.0984	9	.	.	.	.	16.0514	0.80765	0.0:0.8667:0.1333:0.0	.	703	Q9UPU3	SORC3_HUMAN	S	703	ENSP00000358715:T703S	.	T	+	2	0	SORCS3	106949845	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.633000	0.67825	2.890000	0.99128	0.650000	0.86243	ACC	SORCS3	-	smart_VPS10	ENSG00000156395		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	213	0.00	0	C	NM_014978		106959855	106959855	+1	no_errors	ENST00000369701	ensembl	human	known	69_37n	missense	91	37.67	55	SNP	1.000	G
STAG2	10735	genome.wustl.edu	37	X	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chrX:123220476C>T	ENST00000371160.1	+	30	3423	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R976*|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1045					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R1045*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCTTACCGAAATTCTTT	0.433																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											190.0	157.0	168.0					X																	123220476		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3133C>T	X.37:g.123220476C>T	ENSP00000360202:p.Arg1045*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R1045*	ENST00000371160.1	37	c.3133	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	43	10.078881	0.99332	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	0.396	0.16309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0759	15.262	0.73631	0.6782:0.3218:0.0:0.0	.	.	.	.	X	1045;976;1045;1045;1045;1045	.	ENSP00000218089:R1045X	R	+	1	2	STAG2	123048157	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.174000	0.31932	0.105000	0.17753	-0.364000	0.07487	CGA	STAG2	-	NULL	ENSG00000101972		0.433	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	198	1.00	2	C	NM_006603		123220476	123220476	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	nonsense	159	32.77	78	SNP	1.000	T
STAG2	10735	genome.wustl.edu	37	X	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chrX:123220476C>T	ENST00000371160.1	+	30	3423	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R976*|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1045					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R1045*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCTTACCGAAATTCTTT	0.433																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											190.0	157.0	168.0					X																	123220476		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3133C>T	X.37:g.123220476C>T	ENSP00000360202:p.Arg1045*		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R1045*	ENST00000371160.1	37	c.3133	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	43	10.078881	0.99332	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	0.396	0.16309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0759	15.262	0.73631	0.6782:0.3218:0.0:0.0	.	.	.	.	X	1045;976;1045;1045;1045;1045	.	ENSP00000218089:R1045X	R	+	1	2	STAG2	123048157	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.174000	0.31932	0.105000	0.17753	-0.364000	0.07487	CGA	STAG2	-	NULL	ENSG00000101972		0.433	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	276	0.00	0	C	NM_006603		123220476	123220476	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	nonsense	159	32.77	78	SNP	1.000	T
SULT1A4	445329	genome.wustl.edu	37	16	29472811	29472811	+	Silent	SNP	A	A	G	rs150339073		TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr16:29472811A>G	ENST00000360423.7	+	2	206	c.105A>G	c.(103-105)caA>caG	p.Q35Q	SLX1B-SULT1A4_ENST00000564950.1_RNA|SULT1A4_ENST00000565290.1_Silent_p.Q35Q|SNX29P2_ENST00000398878.3_lincRNA|SULT1A4_ENST00000395400.3_Silent_p.Q35Q|SULT1A4_ENST00000344620.6_Silent_p.Q35Q	NM_001017390.2	NP_001017390.1	P0DMN0	ST1A4_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4	35					catecholamine metabolic process (GO:0006584)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	aryl sulfotransferase activity (GO:0004062)										AGAGCTTCCAAGCCCGACCTG	0.627																																						dbGAP											0													2.0	2.0	2.0					16																	29472811		1105	2210	3315	-	-	-	SO:0001819	synonymous_variant	0			L34160	CCDS32427.1	16p11.2	2013-05-10			ENSG00000213648	ENSG00000213648	2.8.2.1	"""Sulfotransferases, cytosolic"""	30004	protein-coding gene	gene with protein product		615819				15358107, 15752422	Standard	NM_001017390		Approved		uc002dxk.3	P0DMN0	OTTHUMG00000170468	ENST00000360423.7:c.105A>G	16.37:g.29472811A>G			B4DNV0|O95603|P50224|Q1ET66|Q6ZWJ5	Silent	SNP	pfam_Sulfotransferase_dom	p.Q35	ENST00000360423.7	37	c.105	CCDS32427.1	16																																																																																			SULT1A4	-	NULL	ENSG00000213648		0.627	SULT1A4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SULT1A4	HGNC	protein_coding	OTTHUMT00000409298.1	37	0.00	0	A	NM_001017389		29472811	29472811	+1	no_errors	ENST00000565290	ensembl	human	known	69_37n	silent	2	50.00	2	SNP	0.951	G
TBX3	6926	genome.wustl.edu	37	12	115118819	115118820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr12:115118819_115118820insC	ENST00000257566.3	-	2	910_911	c.521_522insG	c.(520-522)ggtfs	p.G174fs	TBX3_ENST00000349155.2_Frame_Shift_Ins_p.G174fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	174					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGTCGGCCTTACCAGCCACCAT	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.522dupG	12.37:g.115118821_115118821dupC	ENSP00000257566:p.Gly174fs		Q8TB20|Q9UKF8	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.K175fs	ENST00000257566.3	37	c.522_521	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.465	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	80	0.00	0	-	NM_016569, NM_005996		115118819	115118820	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_ins	54	35.71	30	INS	0.995:1.000	C
UNC5D	137970	genome.wustl.edu	37	8	35425642	35425642	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr8:35425642A>T	ENST00000404895.2	+	3	677	c.349A>T	c.(349-351)Aat>Tat	p.N117Y	UNC5D_ENST00000420357.1_Missense_Mutation_p.N117Y|UNC5D_ENST00000416672.1_Missense_Mutation_p.N117Y|UNC5D_ENST00000287272.2_Missense_Mutation_p.N117Y|UNC5D_ENST00000453357.2_Missense_Mutation_p.N112Y	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	117	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGTGTTCATCAATGTTACTAG	0.507																																						dbGAP											0													169.0	168.0	168.0					8																	35425642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.349A>T	8.37:g.35425642A>T	ENSP00000385143:p.Asn117Tyr		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.N117Y	ENST00000404895.2	37	c.349	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	A	15.24	2.776230	0.49786	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.972	T	0.63125	-0.6707	10	0.66056	D	0.02	-19.1419	15.2986	0.73928	1.0:0.0:0.0:0.0	.	112;117	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	Y	117;117;117;117;112	ENSP00000385143:N117Y;ENSP00000392739:N117Y;ENSP00000287272:N117Y;ENSP00000412652:N117Y;ENSP00000394303:N112Y	ENSP00000287272:N117Y	N	+	1	0	UNC5D	35545184	1.000000	0.71417	0.992000	0.48379	0.478000	0.33099	3.671000	0.54576	2.070000	0.61991	0.533000	0.62120	AAT	UNC5D	-	NULL	ENSG00000156687		0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	317	0.94	3	A			35425642	35425642	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	184	28.68	74	SNP	1.000	T
UNC5D	137970	genome.wustl.edu	37	8	35425642	35425642	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr8:35425642A>T	ENST00000404895.2	+	3	677	c.349A>T	c.(349-351)Aat>Tat	p.N117Y	UNC5D_ENST00000420357.1_Missense_Mutation_p.N117Y|UNC5D_ENST00000416672.1_Missense_Mutation_p.N117Y|UNC5D_ENST00000287272.2_Missense_Mutation_p.N117Y|UNC5D_ENST00000453357.2_Missense_Mutation_p.N112Y	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	117	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGTGTTCATCAATGTTACTAG	0.507																																						dbGAP											0													169.0	168.0	168.0					8																	35425642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.349A>T	8.37:g.35425642A>T	ENSP00000385143:p.Asn117Tyr		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.N117Y	ENST00000404895.2	37	c.349	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	A	15.24	2.776230	0.49786	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.972	T	0.63125	-0.6707	10	0.66056	D	0.02	-19.1419	15.2986	0.73928	1.0:0.0:0.0:0.0	.	112;117	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	Y	117;117;117;117;112	ENSP00000385143:N117Y;ENSP00000392739:N117Y;ENSP00000287272:N117Y;ENSP00000412652:N117Y;ENSP00000394303:N112Y	ENSP00000287272:N117Y	N	+	1	0	UNC5D	35545184	1.000000	0.71417	0.992000	0.48379	0.478000	0.33099	3.671000	0.54576	2.070000	0.61991	0.533000	0.62120	AAT	UNC5D	-	NULL	ENSG00000156687		0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	268	0.00	0	A			35425642	35425642	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	184	28.68	74	SNP	1.000	T
WDR91	29062	genome.wustl.edu	37	7	134890683	134890683	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr7:134890683T>C	ENST00000354475.4	-	5	753	c.722A>G	c.(721-723)gAa>gGa	p.E241G	WDR91_ENST00000344400.5_Missense_Mutation_p.E241G|WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.E206G	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	241										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CACTCACAGTTCCGAGTCCCC	0.552																																						dbGAP											0													213.0	186.0	195.0					7																	134890683		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.722A>G	7.37:g.134890683T>C	ENSP00000346466:p.Glu241Gly		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E241G	ENST00000354475.4	37	c.722	CCDS34758.1	7	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680902	0.88542	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.68903	1.16;-0.36;0.21	5.21	5.21	0.72293	.	0.139286	0.64402	D	0.000005	T	0.66237	0.2769	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.51742	0.678	T	0.69202	-0.5207	10	0.52906	T	0.07	.	15.3892	0.74729	0.0:0.0:0.0:1.0	.	241	A4D1P6	WDR91_HUMAN	G	241;241;206	ENSP00000340877:E241G;ENSP00000346466:E241G;ENSP00000392555:E206G	ENSP00000340877:E241G	E	-	2	0	WDR91	134541223	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	7.632000	0.83247	2.080000	0.62538	0.533000	0.62120	GAA	WDR91	-	NULL	ENSG00000105875		0.552	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1	90	0.00	0	T	NM_014149		134890683	134890683	-1	no_errors	ENST00000354475	ensembl	human	known	69_37n	missense	59	40.40	40	SNP	1.000	C
WNT7A	7476	genome.wustl.edu	37	3	13916460	13916460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr3:13916460delC	ENST00000285018.4	-	2	586	c.282delG	c.(280-282)gggfs	p.G94fs	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	94					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGAGCTCCTTCCCGAAGACGG	0.577																																						dbGAP											0													45.0	38.0	41.0					3																	13916460		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.282delG	3.37:g.13916460delC	ENSP00000285018:p.Gly94fs		Q96H90|Q9Y560	Frame_Shift_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.K95fs	ENST00000285018.4	37	c.282	CCDS2616.1	3																																																																																			WNT7A	-	pfam_Wnt,smart_Wnt	ENSG00000154764		0.577	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7A	HGNC	protein_coding	OTTHUMT00000252031.2	61	0.00	0	C	NM_004625		13916460	13916460	-1	no_errors	ENST00000285018	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	0.699	-
ZC3HAV1	56829	genome.wustl.edu	37	7	138738313	138738313	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr7:138738313A>T	ENST00000242351.5	-	12	2649	c.2333T>A	c.(2332-2334)aTg>aAg	p.M778K	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.M900K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	778	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTCTTCCTTCATCTGCGATTT	0.388																																						dbGAP											0													137.0	137.0	137.0					7																	138738313		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2333T>A	7.37:g.138738313A>T	ENSP00000242351:p.Met778Lys		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.M778K	ENST00000242351.5	37	c.2333	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737403	0.69304	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.12147	2.71;2.71	5.06	5.06	0.68205	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.56097	D	0.000024	T	0.34600	0.0903	M	0.87456	2.885	0.80722	D	1	P	0.43973	0.823	P	0.53988	0.739	T	0.13335	-1.0513	10	0.48119	T	0.1	.	11.5148	0.50515	1.0:0.0:0.0:0.0	.	778	Q7Z2W4	ZCCHV_HUMAN	K	778;900	ENSP00000242351:M778K;ENSP00000418385:M900K	ENSP00000242351:M778K	M	-	2	0	ZC3HAV1	138388853	0.449000	0.25689	0.503000	0.27626	0.021000	0.10359	1.672000	0.37523	2.021000	0.59480	0.460000	0.39030	ATG	ZC3HAV1	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000105939		0.388	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	187	0.00	0	A	NM_020119		138738313	138738313	-1	no_errors	ENST00000242351	ensembl	human	known	69_37n	missense	139	36.94	82	SNP	0.992	T
ZSCAN32	54925	genome.wustl.edu	37	16	3447282	3447282	+	Missense_Mutation	SNP	C	C	G	rs27241	byFrequency	TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr16:3447282C>G	ENST00000396852.4	-	2	583	c.276G>C	c.(274-276)gaG>gaC	p.E92D	ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.E92D|ZSCAN32_ENST00000304926.3_5'UTR|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.E92D|ZSCAN32_ENST00000573830.1_Intron|ZSCAN32_ENST00000422427.2_Intron	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	92	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										AGGTCTGGATCTCCTCTGGCA	0.537													C|||	1289	0.257388	0.379	0.2262	5008	,	,		18770	0.131		0.2475	False		,,,				2504	0.2556					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.276G>C	16.37:g.3447282C>G	ENSP00000380061:p.Glu92Asp		B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E92D	ENST00000396852.4	37	c.276		16	543	0.24862637362637363	192	0.3902439024390244	85	0.23480662983425415	73	0.12762237762237763	193	0.2546174142480211	C	11.65	1.703130	0.30232	.	.	ENSG00000140987	ENST00000396852;ENST00000396846;ENST00000418960	T;T	0.07567	3.18;3.18	4.36	2.35	0.29111	.	0.259578	0.19403	U	0.115140	T	0.00012	0.0000	.	.	.	0.58432	P	1.999999999946489E-6	D;B	0.69078	0.997;0.339	D;B	0.79108	0.992;0.118	T	0.44390	-0.9331	8	0.72032	D	0.01	.	5.3104	0.15828	0.2002:0.6922:0.0:0.1076	rs27241;rs52828251;rs27241	91;92	Q9BU74;Q6WMU8	.;.	D	92;92;91	ENSP00000380061:E92D;ENSP00000380057:E92D	ENSP00000380057:E92D	E	-	3	2	ZNF434	3387283	0.976000	0.34144	0.008000	0.14137	0.986000	0.74619	0.238000	0.18004	0.285000	0.22329	-0.136000	0.14681	GAG	ZNF434	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000140987		0.537	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	9	0.00	0	C	NM_017810		3447282	3447282	-1	no_errors	ENST00000396846	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.417	G
ZNF733P	643955	genome.wustl.edu	37	7	62752861	62752861	+	RNA	SNP	G	G	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-11A-32W-A10F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	bc9cbe8e-4bbe-494a-aae9-f0feab9a86f6	g.chr7:62752861G>A	ENST00000331425.6	-	0	574					NR_003952.1				zinc finger protein 733, pseudogene																		ACCTGATGTTGATTTAGGTGT	0.313																																						dbGAP											0																																										-	-	-			0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752861G>A				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.313	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	88	0.00	0	G			62752861	62752861	-1	no_errors	ENST00000331425	ensembl	human	known	69_37n	rna	56	29.63	24	SNP	0.000	A
ZNF733P	643955	genome.wustl.edu	37	7	62752861	62752861	+	RNA	SNP	G	G	A			TCGA-A7-A0CH-01A-21W-A019-09	TCGA-A7-A0CH-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0abb515a-8645-42d9-a5f4-f1363bc17ef9	ef4ad5bd-7fd5-4847-86cc-70f0a075656d	g.chr7:62752861G>A	ENST00000331425.6	-	0	574					NR_003952.1				zinc finger protein 733, pseudogene																		ACCTGATGTTGATTTAGGTGT	0.313																																						dbGAP											0																																										-	-	-			0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752861G>A				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.313	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	58	0.00	0	G			62752861	62752861	-1	no_errors	ENST00000331425	ensembl	human	known	69_37n	rna	56	29.63	24	SNP	0.000	A
