#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
ARFGEF2	10564	genome.wustl.edu	37	20	47569307	47569307	+	Silent	SNP	G	G	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr20:47569307G>A	ENST00000371917.4	+	5	489	c.489G>A	c.(487-489)gtG>gtA	p.V163V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	163	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCAGACAGTGAGAACATGTT	0.443																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													152.0	135.0	141.0					20																	47569307		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.489G>A	20.37:g.47569307G>A			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.V163	ENST00000371917.4	37	c.489	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.443	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	153	0.00	0	G	NM_006420		47569307	47569307	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	silent	239	60.50	366	SNP	0.997	A
ARFGEF2	10564	genome.wustl.edu	37	20	47569307	47569307	+	Silent	SNP	G	G	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr20:47569307G>A	ENST00000371917.4	+	5	489	c.489G>A	c.(487-489)gtG>gtA	p.V163V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	163	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGCAGACAGTGAGAACATGTT	0.443																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													152.0	135.0	141.0					20																	47569307		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.489G>A	20.37:g.47569307G>A			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.V163	ENST00000371917.4	37	c.489	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.443	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	158	0.00	0	G	NM_006420		47569307	47569307	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	silent	239	60.50	366	SNP	0.997	A
CROCCP2	84809	genome.wustl.edu	37	1	16950261	16950261	+	lincRNA	SNP	G	G	C	rs11260845	byFrequency	TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr1:16950261G>C	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											aggccagccagactcctactc	0.572																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950261G>C			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.572	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	14	0.00	0	G	NR_026752.1		16950261	16950261	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	8	38.46	5	SNP	0.687	C
CSMD1	64478	genome.wustl.edu	37	8	3165943	3165943	+	Silent	SNP	A	A	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr8:3165943A>T	ENST00000520002.1	-	25	4272	c.3717T>A	c.(3715-3717)acT>acA	p.T1239T	CSMD1_ENST00000542608.1_Silent_p.T1238T|CSMD1_ENST00000602557.1_Silent_p.T1239T|CSMD1_ENST00000602723.1_Silent_p.T1239T|CSMD1_ENST00000400186.3_Silent_p.T1239T|CSMD1_ENST00000539096.1_Silent_p.T1238T|CSMD1_ENST00000537824.1_Silent_p.T1238T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1239	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGAACTACAGTGTCGGTAA	0.512																																						dbGAP											0													116.0	109.0	111.0					8																	3165943		2033	4184	6217	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3717T>A	8.37:g.3165943A>T			Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.C719S	ENST00000520002.1	37	c.2155		8	.	.	.	.	.	.	.	.	.	.	A	0.295	-0.977277	0.02197	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.37165	D	0.902765	.	.	.	.	.	.	T	0.48864	-0.8997	4	.	.	.	.	2.3	0.04160	0.1261:0.2343:0.3323:0.3073	.	.	.	.	S	719	.	.	C	-	1	0	CSMD1	3153350	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.736000	0.01845	-4.266000	0.00060	-1.272000	0.01410	TGT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	97	0.00	0	A	NM_033225		3165943	3165943	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	missense	20	47.37	18	SNP	0.000	T
CSMD1	64478	genome.wustl.edu	37	8	3165943	3165943	+	Silent	SNP	A	A	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr8:3165943A>T	ENST00000520002.1	-	25	4272	c.3717T>A	c.(3715-3717)acT>acA	p.T1239T	CSMD1_ENST00000542608.1_Silent_p.T1238T|CSMD1_ENST00000602557.1_Silent_p.T1239T|CSMD1_ENST00000602723.1_Silent_p.T1239T|CSMD1_ENST00000400186.3_Silent_p.T1239T|CSMD1_ENST00000539096.1_Silent_p.T1238T|CSMD1_ENST00000537824.1_Silent_p.T1238T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1239	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGAACTACAGTGTCGGTAA	0.512																																						dbGAP											0													116.0	109.0	111.0					8																	3165943		2033	4184	6217	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3717T>A	8.37:g.3165943A>T			Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.C719S	ENST00000520002.1	37	c.2155		8	.	.	.	.	.	.	.	.	.	.	A	0.295	-0.977277	0.02197	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.37165	D	0.902765	.	.	.	.	.	.	T	0.48864	-0.8997	4	.	.	.	.	2.3	0.04160	0.1261:0.2343:0.3323:0.3073	.	.	.	.	S	719	.	.	C	-	1	0	CSMD1	3153350	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.736000	0.01845	-4.266000	0.00060	-1.272000	0.01410	TGT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	54	0.00	0	A	NM_033225		3165943	3165943	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	missense	20	47.37	18	SNP	0.000	T
DIDO1	11083	genome.wustl.edu	37	20	61542268	61542268	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr20:61542268C>T	ENST00000266070.4	-	3	1022	c.697G>A	c.(697-699)Gac>Aac	p.D233N	DIDO1_ENST00000266071.5_Missense_Mutation_p.D233N|DIDO1_ENST00000370366.1_Missense_Mutation_p.D233N|DIDO1_ENST00000370368.1_Missense_Mutation_p.D233N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D233N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D233N|DIDO1_ENST00000354665.4_Missense_Mutation_p.D233N|DIDO1_ENST00000370371.4_Missense_Mutation_p.D233N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D233N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	233					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCTCTCTGTCATCTTTCCCA	0.597																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													117.0	118.0	117.0					20																	61542268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.697G>A	20.37:g.61542268C>T	ENSP00000266070:p.Asp233Asn		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.D233N	ENST00000266070.4	37	c.697	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204268	0.38905	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18960	3.26;3.26;2.68;2.68;2.18;2.18;2.18;2.18;2.18	5.35	3.41	0.39046	Zinc finger, FYVE/PHD-type (1);	0.167937	0.27544	U	0.018889	T	0.28797	0.0714	L	0.51422	1.61	0.09310	N	1	D;P;B;B	0.56746	0.977;0.763;0.051;0.03	P;P;B;B	0.55923	0.787;0.544;0.026;0.017	T	0.05801	-1.0863	10	0.48119	T	0.1	-12.8374	6.835	0.23931	0.0:0.5805:0.2736:0.1459	.	233;233;233;233	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	N	233	ENSP00000266070:D233N;ENSP00000378752:D233N;ENSP00000378749:D233N;ENSP00000378744:D233N;ENSP00000359397:D233N;ENSP00000359394:D233N;ENSP00000346692:D233N;ENSP00000359391:D233N;ENSP00000266071:D233N	ENSP00000266070:D233N	D	-	1	0	DIDO1	61012713	0.014000	0.17966	0.000000	0.03702	0.004000	0.04260	2.581000	0.46077	0.639000	0.30564	0.561000	0.74099	GAC	DIDO1	-	superfamily_Znf_FYVE_PHD	ENSG00000101191		0.597	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	90	0.00	0	C	NM_080796		61542268	61542268	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	missense	117	17.02	24	SNP	0.004	T
DIDO1	11083	genome.wustl.edu	37	20	61542482	61542482	+	Silent	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr20:61542482C>T	ENST00000266070.4	-	3	808	c.483G>A	c.(481-483)ttG>ttA	p.L161L	DIDO1_ENST00000266071.5_Silent_p.L161L|DIDO1_ENST00000370366.1_Silent_p.L161L|DIDO1_ENST00000370368.1_Silent_p.L161L|DIDO1_ENST00000395335.2_Silent_p.L161L|DIDO1_ENST00000395343.1_Silent_p.L161L|DIDO1_ENST00000354665.4_Silent_p.L161L|DIDO1_ENST00000370371.4_Silent_p.L161L|DIDO1_ENST00000395340.1_Silent_p.L161L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	161					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGCTCTTTCAAGGTCAGGC	0.582																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													83.0	68.0	73.0					20																	61542482		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.483G>A	20.37:g.61542482C>T			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.L161	ENST00000266070.4	37	c.483	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.582	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	45	0.00	0	C	NM_080796		61542482	61542482	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	silent	90	17.43	19	SNP	0.993	T
DIDO1	11083	genome.wustl.edu	37	20	61542482	61542482	+	Silent	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr20:61542482C>T	ENST00000266070.4	-	3	808	c.483G>A	c.(481-483)ttG>ttA	p.L161L	DIDO1_ENST00000266071.5_Silent_p.L161L|DIDO1_ENST00000370366.1_Silent_p.L161L|DIDO1_ENST00000370368.1_Silent_p.L161L|DIDO1_ENST00000395335.2_Silent_p.L161L|DIDO1_ENST00000395343.1_Silent_p.L161L|DIDO1_ENST00000354665.4_Silent_p.L161L|DIDO1_ENST00000370371.4_Silent_p.L161L|DIDO1_ENST00000395340.1_Silent_p.L161L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	161					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAGCTCTTTCAAGGTCAGGC	0.582																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													83.0	68.0	73.0					20																	61542482		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.483G>A	20.37:g.61542482C>T			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.L161	ENST00000266070.4	37	c.483	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.582	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	22	0.00	0	C	NM_080796		61542482	61542482	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	silent	90	17.43	19	SNP	0.993	T
ERC1	23085	genome.wustl.edu	37	12	1553842	1553842	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr12:1553842C>T	ENST00000397203.2	+	18	3545	c.3139C>T	c.(3139-3141)Cca>Tca	p.P1047S	ERC1_ENST00000546231.2_Missense_Mutation_p.P1051S|ERC1_ENST00000589028.1_Missense_Mutation_p.P1047S|ERC1_ENST00000355446.5_Missense_Mutation_p.P1047S|ERC1_ENST00000543086.3_Missense_Mutation_p.P1019S|ERC1_ENST00000360905.4_Missense_Mutation_p.P1047S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1047	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGGACTCACTCCACCAGCTTC	0.502																																						dbGAP											0													84.0	92.0	89.0					12																	1553842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3139C>T	12.37:g.1553842C>T	ENSP00000380386:p.Pro1047Ser		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.P1047S	ENST00000397203.2	37	c.3139	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.133357	0.94517	.	.	ENSG00000082805	ENST00000397203;ENST00000543086;ENST00000546231;ENST00000355446;ENST00000360905	T;T;T;T	0.36878	1.68;1.71;1.23;1.68	5.53	5.53	0.82687	Rab-binding domain FIP-RBD (1);	0.000000	0.64402	D	0.000001	T	0.52370	0.1730	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.52801	-0.8527	10	0.62326	D	0.03	-13.4864	19.5274	0.95212	0.0:1.0:0.0:0.0	.	1019;1047	Q8IUD2-3;Q8IUD2	.;RB6I2_HUMAN	S	1047;1019;1047;1047;1047	ENSP00000380386:P1047S;ENSP00000438546:P1019S;ENSP00000347621:P1047S;ENSP00000354158:P1047S	ENSP00000347621:P1047S	P	+	1	0	ERC1	1424103	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.440000	0.80464	2.618000	0.88619	0.650000	0.86243	CCA	ERC1	-	NULL	ENSG00000082805		0.502	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	170	0.00	0	C	NM_015064		1553842	1553842	+1	no_errors	ENST00000360905	ensembl	human	known	69_37n	missense	99	13.16	15	SNP	1.000	T
ERC1	23085	genome.wustl.edu	37	12	1553842	1553842	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr12:1553842C>T	ENST00000397203.2	+	18	3545	c.3139C>T	c.(3139-3141)Cca>Tca	p.P1047S	ERC1_ENST00000546231.2_Missense_Mutation_p.P1051S|ERC1_ENST00000589028.1_Missense_Mutation_p.P1047S|ERC1_ENST00000355446.5_Missense_Mutation_p.P1047S|ERC1_ENST00000543086.3_Missense_Mutation_p.P1019S|ERC1_ENST00000360905.4_Missense_Mutation_p.P1047S			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1047	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGGACTCACTCCACCAGCTTC	0.502																																						dbGAP											0													84.0	92.0	89.0					12																	1553842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3139C>T	12.37:g.1553842C>T	ENSP00000380386:p.Pro1047Ser		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.P1047S	ENST00000397203.2	37	c.3139	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.133357	0.94517	.	.	ENSG00000082805	ENST00000397203;ENST00000543086;ENST00000546231;ENST00000355446;ENST00000360905	T;T;T;T	0.36878	1.68;1.71;1.23;1.68	5.53	5.53	0.82687	Rab-binding domain FIP-RBD (1);	0.000000	0.64402	D	0.000001	T	0.52370	0.1730	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.52801	-0.8527	10	0.62326	D	0.03	-13.4864	19.5274	0.95212	0.0:1.0:0.0:0.0	.	1019;1047	Q8IUD2-3;Q8IUD2	.;RB6I2_HUMAN	S	1047;1019;1047;1047;1047	ENSP00000380386:P1047S;ENSP00000438546:P1019S;ENSP00000347621:P1047S;ENSP00000354158:P1047S	ENSP00000347621:P1047S	P	+	1	0	ERC1	1424103	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.440000	0.80464	2.618000	0.88619	0.650000	0.86243	CCA	ERC1	-	NULL	ENSG00000082805		0.502	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	84	0.00	0	C	NM_015064		1553842	1553842	+1	no_errors	ENST00000360905	ensembl	human	known	69_37n	missense	99	13.16	15	SNP	1.000	T
IDUA	3425	genome.wustl.edu	37	4	997898	997899	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr4:997898_997899insCT	ENST00000247933.4	+	13	1914_1915	c.1826_1827insCT	c.(1825-1830)ccagacfs	p.D610fs	IDUA_ENST00000514224.1_Frame_Shift_Ins_p.D478fs|IDUA_ENST00000453894.1_Frame_Shift_Ins_p.D632fs	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	610					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGTTCAGCCCAGGTGCGCCCA	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	Exception_encountered	4.37:g.997898_997899insCT	ENSP00000247933:p.Asp610fs		B3KWK6	Frame_Shift_Ins	INS	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.D632fs	ENST00000247933.4	37	c.1892_1893	CCDS3343.1	4																																																																																			IDUA	-	superfamily_Fibronectin_type3	ENSG00000127415		0.634	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	HGNC	protein_coding	OTTHUMT00000201812.1	20	0.00	0	-	NM_000203		997898	997899	+1	no_errors	ENST00000453894	ensembl	human	known	69_37n	frame_shift_ins	14	33.33	7	INS	1.000:1.000	CT
IDUA	3425	genome.wustl.edu	37	4	997898	997899	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr4:997898_997899insCT	ENST00000247933.4	+	13	1914_1915	c.1826_1827insCT	c.(1825-1830)ccagacfs	p.D610fs	IDUA_ENST00000514224.1_Frame_Shift_Ins_p.D478fs|IDUA_ENST00000453894.1_Frame_Shift_Ins_p.D632fs	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	610					carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGTTCAGCCCAGGTGCGCCCA	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	Exception_encountered	4.37:g.997898_997899insCT	ENSP00000247933:p.Asp610fs		B3KWK6	Frame_Shift_Ins	INS	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.D632fs	ENST00000247933.4	37	c.1892_1893	CCDS3343.1	4																																																																																			IDUA	-	superfamily_Fibronectin_type3	ENSG00000127415		0.634	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	HGNC	protein_coding	OTTHUMT00000201812.1	17	0.00	0	-	NM_000203		997898	997899	+1	no_errors	ENST00000453894	ensembl	human	known	69_37n	frame_shift_ins	14	33.33	7	INS	1.000:1.000	CT
IFIT1B	439996	genome.wustl.edu	37	10	91143442	91143442	+	Silent	SNP	T	T	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr10:91143442T>C	ENST00000371809.3	+	2	452	c.372T>C	c.(370-372)acT>acC	p.T124T	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	124										endometrium(2)|large_intestine(3)|lung(8)	13						TGGAGAACACTTGCAAGAAGT	0.498																																						dbGAP											0													57.0	56.0	56.0					10																	91143442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.372T>C	10.37:g.91143442T>C			A7E245	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T124	ENST00000371809.3	37	c.372	CCDS31242.1	10																																																																																			IFIT1B	-	smart_TPR_repeat	ENSG00000204010		0.498	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	166	0.00	0	T	NM_001010987		91143442	91143442	+1	no_errors	ENST00000371809	ensembl	human	known	69_37n	silent	103	34.81	55	SNP	0.000	C
IFIT1B	439996	genome.wustl.edu	37	10	91143442	91143442	+	Silent	SNP	T	T	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr10:91143442T>C	ENST00000371809.3	+	2	452	c.372T>C	c.(370-372)acT>acC	p.T124T	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	124										endometrium(2)|large_intestine(3)|lung(8)	13						TGGAGAACACTTGCAAGAAGT	0.498																																						dbGAP											0													57.0	56.0	56.0					10																	91143442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.372T>C	10.37:g.91143442T>C			A7E245	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T124	ENST00000371809.3	37	c.372	CCDS31242.1	10																																																																																			IFIT1B	-	smart_TPR_repeat	ENSG00000204010		0.498	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3	356	0.00	0	T	NM_001010987		91143442	91143442	+1	no_errors	ENST00000371809	ensembl	human	known	69_37n	silent	103	34.81	55	SNP	0.000	C
KLHL1	57626	genome.wustl.edu	37	13	70514225	70514225	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr13:70514225C>T	ENST00000377844.4	-	4	1720	c.961G>A	c.(961-963)Gca>Aca	p.A321T	KLHL1_ENST00000545028.1_Missense_Mutation_p.A128T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	321					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGAGCATCTGCGAAGGCTCGA	0.453																																						dbGAP											0													87.0	77.0	81.0					13																	70514225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.961G>A	13.37:g.70514225C>T	ENSP00000367075:p.Ala321Thr		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A321T	ENST00000377844.4	37	c.961	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.448339	0.96205	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.81078	-1.45;-1.45	5.67	5.67	0.87782	BTB/Kelch-associated (2);	0.000000	0.64402	D	0.000003	D	0.92004	0.7467	M	0.89715	3.055	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	D	0.93016	0.6436	10	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	321;321	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	T	321;128	ENSP00000367075:A321T;ENSP00000439602:A128T	ENSP00000367075:A321T	A	-	1	0	KLHL1	69412226	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.671000	0.90904	0.557000	0.71058	GCA	KLHL1	-	pfam_BACK,smart_BACK	ENSG00000150361		0.453	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	78	0.00	0	C	NM_020866		70514225	70514225	-1	no_errors	ENST00000377844	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	T
KLHL1	57626	genome.wustl.edu	37	13	70514225	70514225	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr13:70514225C>T	ENST00000377844.4	-	4	1720	c.961G>A	c.(961-963)Gca>Aca	p.A321T	KLHL1_ENST00000545028.1_Missense_Mutation_p.A128T	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	321					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGAGCATCTGCGAAGGCTCGA	0.453																																						dbGAP											0													87.0	77.0	81.0					13																	70514225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.961G>A	13.37:g.70514225C>T	ENSP00000367075:p.Ala321Thr		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A321T	ENST00000377844.4	37	c.961	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.448339	0.96205	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.81078	-1.45;-1.45	5.67	5.67	0.87782	BTB/Kelch-associated (2);	0.000000	0.64402	D	0.000003	D	0.92004	0.7467	M	0.89715	3.055	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	D	0.93016	0.6436	10	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	321;321	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	T	321;128	ENSP00000367075:A321T;ENSP00000439602:A128T	ENSP00000367075:A321T	A	-	1	0	KLHL1	69412226	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.818000	0.86416	2.671000	0.90904	0.557000	0.71058	GCA	KLHL1	-	pfam_BACK,smart_BACK	ENSG00000150361		0.453	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	66	0.00	0	C	NM_020866		70514225	70514225	-1	no_errors	ENST00000377844	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	T
LRRN3	54674	genome.wustl.edu	37	7	110762901	110762901	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr7:110762901A>T	ENST00000422987.3	+	2	904	c.73A>T	c.(73-75)Aaa>Taa	p.K25*	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Nonsense_Mutation_p.K25*|LRRN3_ENST00000308478.5_Nonsense_Mutation_p.K25*	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	25	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTGTAGATAAAAAAGTGGA	0.398																																						dbGAP											0													130.0	117.0	121.0					7																	110762901		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.73A>T	7.37:g.110762901A>T	ENSP00000412417:p.Lys25*		O43377|Q6I9V8|Q8IYQ6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K25*	ENST00000422987.3	37	c.73	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	A	41	8.849699	0.98976	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	13.4643	0.61245	0.87:0.13:0.0:0.0	.	.	.	.	X	25	.	ENSP00000312001:K25X	K	+	1	0	LRRN3	110550137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.840000	0.55843	2.288000	0.76882	0.528000	0.53228	AAA	LRRN3	-	NULL	ENSG00000173114		0.398	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	228	0.00	0	A	NM_018334		110762901	110762901	+1	no_errors	ENST00000308478	ensembl	human	known	69_37n	nonsense	237	24.52	77	SNP	1.000	T
LRRN3	54674	genome.wustl.edu	37	7	110762901	110762901	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr7:110762901A>T	ENST00000422987.3	+	2	904	c.73A>T	c.(73-75)Aaa>Taa	p.K25*	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Nonsense_Mutation_p.K25*|LRRN3_ENST00000308478.5_Nonsense_Mutation_p.K25*	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	25	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTGTAGATAAAAAAGTGGA	0.398																																						dbGAP											0													130.0	117.0	121.0					7																	110762901		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.73A>T	7.37:g.110762901A>T	ENSP00000412417:p.Lys25*		O43377|Q6I9V8|Q8IYQ6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K25*	ENST00000422987.3	37	c.73	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	A	41	8.849699	0.98976	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	13.4643	0.61245	0.87:0.13:0.0:0.0	.	.	.	.	X	25	.	ENSP00000312001:K25X	K	+	1	0	LRRN3	110550137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.840000	0.55843	2.288000	0.76882	0.528000	0.53228	AAA	LRRN3	-	NULL	ENSG00000173114		0.398	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	283	0.00	0	A	NM_018334		110762901	110762901	+1	no_errors	ENST00000308478	ensembl	human	known	69_37n	nonsense	237	24.52	77	SNP	1.000	T
MAPK8	5599	genome.wustl.edu	37	10	49609776	49609776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr10:49609776C>T	ENST00000374189.1	+	2	254	c.73C>T	c.(73-75)Cga>Tga	p.R25*	MAPK8_ENST00000374182.3_Nonsense_Mutation_p.R25*|MAPK8_ENST00000374174.1_Nonsense_Mutation_p.R25*|MAPK8_ENST00000360332.3_Nonsense_Mutation_p.R25*|MAPK8_ENST00000395611.3_Nonsense_Mutation_p.R25*			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	25					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGTCCTGAAACGATATCAGAA	0.358																																						dbGAP											0													84.0	81.0	82.0					10																	49609776		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.73C>T	10.37:g.49609776C>T	ENSP00000363304:p.Arg25*		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.R25*	ENST00000374189.1	37	c.73	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.085836	0.97271	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	.	.	.	5.5	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1431	0.65331	0.3908:0.6092:0.0:0.0	.	.	.	.	X	25	.	ENSP00000353483:R25X	R	+	1	2	MAPK8	49279782	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.627000	0.54252	0.830000	0.34757	0.655000	0.94253	CGA	MAPK8	-	superfamily_Kinase-like_dom	ENSG00000107643		0.358	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	82	0.00	0	C			49609776	49609776	+1	no_errors	ENST00000360332	ensembl	human	known	69_37n	nonsense	36	42.86	27	SNP	1.000	T
MAPK8	5599	genome.wustl.edu	37	10	49609776	49609776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr10:49609776C>T	ENST00000374189.1	+	2	254	c.73C>T	c.(73-75)Cga>Tga	p.R25*	MAPK8_ENST00000374182.3_Nonsense_Mutation_p.R25*|MAPK8_ENST00000374174.1_Nonsense_Mutation_p.R25*|MAPK8_ENST00000360332.3_Nonsense_Mutation_p.R25*|MAPK8_ENST00000395611.3_Nonsense_Mutation_p.R25*			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	25					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AGTCCTGAAACGATATCAGAA	0.358																																						dbGAP											0													84.0	81.0	82.0					10																	49609776		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.73C>T	10.37:g.49609776C>T	ENSP00000363304:p.Arg25*		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.R25*	ENST00000374189.1	37	c.73	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.085836	0.97271	.	.	ENSG00000107643	ENST00000432379;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	.	.	.	5.5	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1431	0.65331	0.3908:0.6092:0.0:0.0	.	.	.	.	X	25	.	ENSP00000353483:R25X	R	+	1	2	MAPK8	49279782	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.627000	0.54252	0.830000	0.34757	0.655000	0.94253	CGA	MAPK8	-	superfamily_Kinase-like_dom	ENSG00000107643		0.358	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	98	0.00	0	C			49609776	49609776	+1	no_errors	ENST00000360332	ensembl	human	known	69_37n	nonsense	36	42.86	27	SNP	1.000	T
MMD	23531	genome.wustl.edu	37	17	53488766	53488766	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr17:53488766G>A	ENST00000262065.3	-	3	417	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	41					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACGATGGCCGGAACAATGAGG	0.443																																						dbGAP											0													65.0	62.0	63.0					17																	53488766		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.121C>T	17.37:g.53488766G>A	ENSP00000262065:p.Pro41Ser		B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	pfam_HlyIII-related,tigrfam_HylIII	p.P41S	ENST00000262065.3	37	c.121	CCDS11586.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899375	0.91962	.	.	ENSG00000108960	ENST00000262065	T	0.29397	1.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62272	-0.6889	10	0.18276	T	0.48	2.7676	18.8899	0.92395	0.0:0.0:1.0:0.0	.	41	Q15546	PAQRB_HUMAN	S	41	ENSP00000262065:P41S	ENSP00000262065:P41S	P	-	1	0	MMD	50843765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.439000	0.97543	2.707000	0.92482	0.561000	0.74099	CCG	MMD	-	pfam_HlyIII-related,tigrfam_HylIII	ENSG00000108960		0.443	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	HGNC	protein_coding	OTTHUMT00000439214.1	95	0.00	0	G			53488766	53488766	-1	no_errors	ENST00000262065	ensembl	human	known	69_37n	missense	49	26.87	18	SNP	1.000	A
MMD	23531	genome.wustl.edu	37	17	53488766	53488766	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr17:53488766G>A	ENST00000262065.3	-	3	417	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	41					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACGATGGCCGGAACAATGAGG	0.443																																						dbGAP											0													65.0	62.0	63.0					17																	53488766		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.121C>T	17.37:g.53488766G>A	ENSP00000262065:p.Pro41Ser		B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	pfam_HlyIII-related,tigrfam_HylIII	p.P41S	ENST00000262065.3	37	c.121	CCDS11586.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899375	0.91962	.	.	ENSG00000108960	ENST00000262065	T	0.29397	1.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62272	-0.6889	10	0.18276	T	0.48	2.7676	18.8899	0.92395	0.0:0.0:1.0:0.0	.	41	Q15546	PAQRB_HUMAN	S	41	ENSP00000262065:P41S	ENSP00000262065:P41S	P	-	1	0	MMD	50843765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.439000	0.97543	2.707000	0.92482	0.561000	0.74099	CCG	MMD	-	pfam_HlyIII-related,tigrfam_HylIII	ENSG00000108960		0.443	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	HGNC	protein_coding	OTTHUMT00000439214.1	87	0.00	0	G			53488766	53488766	-1	no_errors	ENST00000262065	ensembl	human	known	69_37n	missense	49	26.87	18	SNP	1.000	A
MRPL21	219927	genome.wustl.edu	37	11	68671254	68671255	+	Frame_Shift_Ins	INS	-	-	A	rs570879590	byFrequency	TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr11:68671254_68671255insA	ENST00000362034.2	-	1	33_34	c.24_25insT	c.(22-27)gtcaccfs	p.T9fs	MRPL21_ENST00000567045.1_5'Flank|IGHMBP2_ENST00000255078.3_5'Flank|IGHMBP2_ENST00000539224.1_5'Flank|MRPL21_ENST00000450904.2_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	9					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGCCCTAAGGTGACCGTCAGGG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.24_25insT	11.37:g.68671254_68671255insA	ENSP00000354580:p.Thr9fs		A6NKU0|C9JPR2	Frame_Shift_Ins	INS	pfam_Ribosomal_L21,tigrfam_Ribosomal_L21	p.T8fs	ENST00000362034.2	37	c.25_24	CCDS8186.1	11																																																																																			MRPL21	-	NULL	ENSG00000197345		0.683	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL21	HGNC	protein_coding	OTTHUMT00000396856.1	13	0.00	0	-	NM_181512		68671254	68671255	-1	no_errors	ENST00000362034	ensembl	human	known	69_37n	frame_shift_ins	15	42.31	11	INS	0.001:0.011	A
MUC20	200958	genome.wustl.edu	37	3	195452645	195452645	+	Missense_Mutation	SNP	G	G	A	rs200616967	byFrequency	TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr3:195452645G>A	ENST00000447234.2	+	2	1297	c.1171G>A	c.(1171-1173)Ggc>Agc	p.G391S	MUC20_ENST00000320736.6_Missense_Mutation_p.G220S|MUC20_ENST00000436408.1_Missense_Mutation_p.G391S|MUC20_ENST00000445522.2_Missense_Mutation_p.G356S	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	391	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.G391S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCTTCCGACGGCCCCCATCC	0.622																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											3.0	2.0	2.0					3																	195452645		1453	3082	4535	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1171G>A	3.37:g.195452645G>A	ENSP00000414350:p.Gly391Ser		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.G391S	ENST00000447234.2	37	c.1171		3	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.663601	0.00772	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.19806	2.98;2.12;3.1;2.58	0.669	-0.281	0.12882	.	.	.	.	.	T	0.07548	0.0190	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.40421	-0.9564	7	0.07175	T	0.84	.	.	.	.	.	220	E9PH32	.	S	391;220;391;356	ENSP00000414350:G391S;ENSP00000325431:G220S;ENSP00000396774:G391S;ENSP00000405629:G356S	ENSP00000325431:G220S	G	+	1	0	MUC20	196938316	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.519000	0.00444	-0.171000	0.10797	-0.363000	0.07495	GGC	MUC20	-	NULL	ENSG00000176945		0.622	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	60	0.00	0	G	NM_152673		195452645	195452645	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	0.001	A
NBPF12	149013	genome.wustl.edu	37	1	146459635	146459635	+	Missense_Mutation	SNP	A	A	G	rs200441040		TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr1:146459635A>G	ENST00000442909.2	+	74	9712	c.8876A>G	c.(8875-8877)gAg>gGg	p.E2959G	NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446080.2_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	141						cytoplasm (GO:0005737)				ovary(2)	2						TATGCATTGGAGGAAAAACAT	0.438																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.8876A>G	1.37:g.146459635A>G	ENSP00000391116:p.Glu2959Gly		O95877	Missense_Mutation	SNP	pfam_NBPF_dom	p.E2959G	ENST00000442909.2	37	c.8876		1	.	.	.	.	.	.	.	.	.	.	N	7.462	0.644880	0.14451	.	.	ENSG00000186275	ENST00000442909	T	0.10477	2.87	.	.	.	.	.	.	.	.	T	0.07098	0.0180	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.14952	-1.0454	3	0.62326	D	0.03	.	.	.	.	.	.	.	.	G	2959	ENSP00000391116:E2959G	ENSP00000391116:E2959G	E	+	2	0	NBPF12	144747254	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	1.107000	0.31110	0.484000	0.27630	0.320000	0.21374	GAG	NBPF12	-	pfam_NBPF_dom	ENSG00000186275		0.438	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	10	0.00	0	A	XM_003119146		146459635	146459635	+1	no_errors	ENST00000442909	ensembl	human	novel	69_37n	missense	5	44.44	4	SNP	0.003	G
PCDHB13	56123	genome.wustl.edu	37	5	140595229	140595229	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr5:140595229C>A	ENST00000341948.4	+	1	1721	c.1534C>A	c.(1534-1536)Cac>Aac	p.H512N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAACGGCCACCTGTTCGC	0.682																																						dbGAP											0													105.0	110.0	108.0					5																	140595229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1534C>A	5.37:g.140595229C>A	ENSP00000345491:p.His512Asn		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H512N	ENST00000341948.4	37	c.1534	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	N	9.003	0.980616	0.18812	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01705	4.68	3.42	-0.033	0.13902	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.00894	-1.105	0.09310	N	1	B	0.18610	0.029	B	0.29077	0.098	T	0.49370	-0.8947	9	0.33141	T	0.24	.	7.852	0.29459	0.2578:0.34:0.4023:0.0	.	512	Q9Y5F0	PCDBD_HUMAN	N	512	ENSP00000345491:H512N	ENSP00000345491:H512N	H	+	1	0	PCDHB13	140575413	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.521000	0.02239	0.084000	0.17077	-0.535000	0.04281	CAC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000187372		0.682	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	328	0.00	0	C	NM_018933		140595229	140595229	+1	no_errors	ENST00000341948	ensembl	human	known	69_37n	missense	243	21.36	66	SNP	0.000	A
PCDHB13	56123	genome.wustl.edu	37	5	140595229	140595229	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr5:140595229C>A	ENST00000341948.4	+	1	1721	c.1534C>A	c.(1534-1536)Cac>Aac	p.H512N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAACGGCCACCTGTTCGC	0.682																																						dbGAP											0													105.0	110.0	108.0					5																	140595229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1534C>A	5.37:g.140595229C>A	ENSP00000345491:p.His512Asn		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H512N	ENST00000341948.4	37	c.1534	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	N	9.003	0.980616	0.18812	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01705	4.68	3.42	-0.033	0.13902	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.00894	-1.105	0.09310	N	1	B	0.18610	0.029	B	0.29077	0.098	T	0.49370	-0.8947	9	0.33141	T	0.24	.	7.852	0.29459	0.2578:0.34:0.4023:0.0	.	512	Q9Y5F0	PCDBD_HUMAN	N	512	ENSP00000345491:H512N	ENSP00000345491:H512N	H	+	1	0	PCDHB13	140575413	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.521000	0.02239	0.084000	0.17077	-0.535000	0.04281	CAC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000187372		0.682	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	197	0.00	0	C	NM_018933		140595229	140595229	+1	no_errors	ENST00000341948	ensembl	human	known	69_37n	missense	243	21.36	66	SNP	0.000	A
PFAS	5198	genome.wustl.edu	37	17	8158827	8158828	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr17:8158827_8158828insC	ENST00000314666.6	+	5	525_526	c.392_393insC	c.(391-396)caccccfs	p.HP131fs	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	131					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TAGTTTGCCCACCCCCCGTCAG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.398dupC	17.37:g.8158833_8158833dupC	ENSP00000313490:p.His131fs		A6H8V8	Frame_Shift_Ins	INS	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth	p.S134fs	ENST00000314666.6	37	c.392_393	CCDS11136.1	17																																																																																			PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.559	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	24	0.00	0	-			8158827	8158828	+1	no_errors	ENST00000314666	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.177:0.018	C
PFAS	5198	genome.wustl.edu	37	17	8158827	8158828	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr17:8158827_8158828insC	ENST00000314666.6	+	5	525_526	c.392_393insC	c.(391-396)caccccfs	p.HP131fs	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	131					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TAGTTTGCCCACCCCCCGTCAG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.398dupC	17.37:g.8158833_8158833dupC	ENSP00000313490:p.His131fs		A6H8V8	Frame_Shift_Ins	INS	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth	p.S134fs	ENST00000314666.6	37	c.392_393	CCDS11136.1	17																																																																																			PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.559	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	64	0.00	0	-			8158827	8158828	+1	no_errors	ENST00000314666	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.177:0.018	C
PIK3CA	5290	genome.wustl.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr3:178921552A>C	ENST00000263967.3	+	5	1191	c.1034A>C	c.(1033-1035)aAt>aCt	p.N345T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345I(4)|p.N345S(1)		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)	ACCTACGTGAATGTAAATATT	0.303		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"""	5	Substitution - Missense(5)	endometrium(2)|breast(2)|central_nervous_system(1)											67.0	66.0	67.0					3																	178921552		1807	4074	5881	-	-	-	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.1034A>C	3.37:g.178921552A>C	ENSP00000263967:p.Asn345Thr		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.N345T	ENST00000263967.3	37	c.1034	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339775	0.81911	.	.	ENSG00000121879	ENST00000263967	T	0.70282	-0.47	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86915	0.2063	10	0.51188	T	0.08	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	T	345	ENSP00000263967:N345T	ENSP00000263967:N345T	N	+	2	0	PIK3CA	180404246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	108	0.00	0	A			178921552	178921552	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	60	37.50	36	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr3:178921552A>C	ENST00000263967.3	+	5	1191	c.1034A>C	c.(1033-1035)aAt>aCt	p.N345T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345I(4)|p.N345S(1)		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)	ACCTACGTGAATGTAAATATT	0.303		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"""	5	Substitution - Missense(5)	endometrium(2)|breast(2)|central_nervous_system(1)											67.0	66.0	67.0					3																	178921552		1807	4074	5881	-	-	-	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.1034A>C	3.37:g.178921552A>C	ENSP00000263967:p.Asn345Thr		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.N345T	ENST00000263967.3	37	c.1034	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339775	0.81911	.	.	ENSG00000121879	ENST00000263967	T	0.70282	-0.47	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.85392	0.5686	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86915	0.2063	10	0.51188	T	0.08	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	T	345	ENSP00000263967:N345T	ENSP00000263967:N345T	N	+	2	0	PIK3CA	180404246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	118	0.00	0	A			178921552	178921552	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	60	37.50	36	SNP	1.000	C
PRR11	55771	genome.wustl.edu	37	17	57262856	57262856	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr17:57262856T>C	ENST00000262293.4	+	4	647	c.335T>C	c.(334-336)cTt>cCt	p.L112P		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	112						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CACCGAGAACTTTACAGTGTA	0.338																																						dbGAP											0													91.0	89.0	90.0					17																	57262856		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.335T>C	17.37:g.57262856T>C	ENSP00000262293:p.Leu112Pro		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	NULL	p.L112P	ENST00000262293.4	37	c.335	CCDS11614.1	17	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783593	0.31593	.	.	ENSG00000068489	ENST00000262293	.	.	.	6.03	4.93	0.64822	.	0.350015	0.23830	N	0.044155	T	0.57666	0.2069	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	D	0.63877	0.919	T	0.59584	-0.7427	9	0.87932	D	0	-0.1074	9.3894	0.38363	0.1587:0.0:0.0:0.8413	.	112	Q96HE9	PRR11_HUMAN	P	112	.	ENSP00000262293:L112P	L	+	2	0	PRR11	54617638	0.986000	0.35501	0.974000	0.42286	0.960000	0.62799	2.704000	0.47118	1.062000	0.40625	0.533000	0.62120	CTT	PRR11	-	NULL	ENSG00000068489		0.338	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR11	HGNC	protein_coding	OTTHUMT00000445949.1	93	0.00	0	T	NM_018304		57262856	57262856	+1	no_errors	ENST00000262293	ensembl	human	known	69_37n	missense	183	14.08	30	SNP	0.885	C
PRR11	55771	genome.wustl.edu	37	17	57262856	57262856	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr17:57262856T>C	ENST00000262293.4	+	4	647	c.335T>C	c.(334-336)cTt>cCt	p.L112P		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	112						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CACCGAGAACTTTACAGTGTA	0.338																																						dbGAP											0													91.0	89.0	90.0					17																	57262856		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.335T>C	17.37:g.57262856T>C	ENSP00000262293:p.Leu112Pro		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	NULL	p.L112P	ENST00000262293.4	37	c.335	CCDS11614.1	17	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783593	0.31593	.	.	ENSG00000068489	ENST00000262293	.	.	.	6.03	4.93	0.64822	.	0.350015	0.23830	N	0.044155	T	0.57666	0.2069	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	D	0.63877	0.919	T	0.59584	-0.7427	9	0.87932	D	0	-0.1074	9.3894	0.38363	0.1587:0.0:0.0:0.8413	.	112	Q96HE9	PRR11_HUMAN	P	112	.	ENSP00000262293:L112P	L	+	2	0	PRR11	54617638	0.986000	0.35501	0.974000	0.42286	0.960000	0.62799	2.704000	0.47118	1.062000	0.40625	0.533000	0.62120	CTT	PRR11	-	NULL	ENSG00000068489		0.338	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR11	HGNC	protein_coding	OTTHUMT00000445949.1	128	0.00	0	T	NM_018304		57262856	57262856	+1	no_errors	ENST00000262293	ensembl	human	known	69_37n	missense	183	14.08	30	SNP	0.885	C
RET	5979	genome.wustl.edu	37	10	43601945	43601945	+	Missense_Mutation	SNP	G	G	A	rs80236571		TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr10:43601945G>A	ENST00000355710.3	+	5	1221	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	RET_ENST00000340058.5_Missense_Mutation_p.R330Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	330			R -> Q (in HSCR1; dbSNP:rs80236571). {ECO:0000269|PubMed:7633441, ECO:0000269|PubMed:8114939}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAGACCTTCCGGGTGGAACAC	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			GRCh37	CM941221	RET	M	rs80236571						53.0	46.0	48.0					10																	43601945		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.989G>A	10.37:g.43601945G>A	ENSP00000347942:p.Arg330Gln		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.R330Q	ENST00000355710.3	37	c.989	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866392	0.91511	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79352	-1.15;-1.26	5.32	5.32	0.75619	.	0.224693	0.46145	D	0.000303	D	0.83552	0.5279	L	0.59436	1.845	0.36986	D	0.894536	D;D;D	0.71674	0.971;0.997;0.998	B;P;P	0.61397	0.439;0.775;0.888	T	0.82540	-0.0406	10	0.24483	T	0.36	.	16.5266	0.84332	0.0:0.0:1.0:0.0	.	76;330;330	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	Q	330	ENSP00000347942:R330Q;ENSP00000344798:R330Q	ENSP00000344798:R330Q	R	+	2	0	RET	42921951	1.000000	0.71417	0.964000	0.40570	0.955000	0.61496	4.594000	0.61041	2.769000	0.95229	0.563000	0.77884	CGG	RET	-	pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like	ENSG00000165731		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	17	0.00	0	G	NM_020975		43601945	43601945	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.974	A
RET	5979	genome.wustl.edu	37	10	43601945	43601945	+	Missense_Mutation	SNP	G	G	A	rs80236571		TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr10:43601945G>A	ENST00000355710.3	+	5	1221	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	RET_ENST00000340058.5_Missense_Mutation_p.R330Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	330			R -> Q (in HSCR1; dbSNP:rs80236571). {ECO:0000269|PubMed:7633441, ECO:0000269|PubMed:8114939}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAGACCTTCCGGGTGGAACAC	0.647		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			GRCh37	CM941221	RET	M	rs80236571						53.0	46.0	48.0					10																	43601945		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.989G>A	10.37:g.43601945G>A	ENSP00000347942:p.Arg330Gln		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.R330Q	ENST00000355710.3	37	c.989	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866392	0.91511	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79352	-1.15;-1.26	5.32	5.32	0.75619	.	0.224693	0.46145	D	0.000303	D	0.83552	0.5279	L	0.59436	1.845	0.36986	D	0.894536	D;D;D	0.71674	0.971;0.997;0.998	B;P;P	0.61397	0.439;0.775;0.888	T	0.82540	-0.0406	10	0.24483	T	0.36	.	16.5266	0.84332	0.0:0.0:1.0:0.0	.	76;330;330	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	Q	330	ENSP00000347942:R330Q;ENSP00000344798:R330Q	ENSP00000344798:R330Q	R	+	2	0	RET	42921951	1.000000	0.71417	0.964000	0.40570	0.955000	0.61496	4.594000	0.61041	2.769000	0.95229	0.563000	0.77884	CGG	RET	-	pirsf_Tyr_kinase_Ret_rcpt,superfamily_Cadherin-like	ENSG00000165731		0.647	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	14	0.00	0	G	NM_020975		43601945	43601945	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.974	A
RPL5	6125	genome.wustl.edu	37	1	93300436	93300436	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr1:93300436C>G	ENST00000370321.3	+	4	380	c.290C>G	c.(289-291)gCa>gGa	p.A97G	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AATTATGCTGCAGCATATTGT	0.458																																						dbGAP											0													109.0	108.0	109.0					1																	93300436		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.290C>G	1.37:g.93300436C>G	ENSP00000359345:p.Ala97Gly		Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.A97G	ENST00000370321.3	37	c.290	CCDS741.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.126071	0.94429	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.80566	-1.39	5.14	5.14	0.70334	.	0.052251	0.85682	D	0.000000	D	0.90208	0.6939	H	0.98295	4.195	0.80722	D	1	B	0.32302	0.363	B	0.43623	0.425	D	0.91905	0.5535	10	0.87932	D	0	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	97	P46777	RL5_HUMAN	G	47;97;47	ENSP00000359345:A97G	ENSP00000359338:A47G	A	+	2	0	RPL5	93073024	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.626000	0.83164	2.398000	0.81561	0.655000	0.94253	GCA	RPL5	-	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	ENSG00000122406		0.458	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	HGNC	protein_coding	OTTHUMT00000030058.2	190	0.00	0	C	NM_000969		93300436	93300436	+1	no_errors	ENST00000370321	ensembl	human	known	69_37n	missense	89	35.97	50	SNP	1.000	G
RPL5	6125	genome.wustl.edu	37	1	93300436	93300436	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr1:93300436C>G	ENST00000370321.3	+	4	380	c.290C>G	c.(289-291)gCa>gGa	p.A97G	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AATTATGCTGCAGCATATTGT	0.458																																						dbGAP											0													109.0	108.0	109.0					1																	93300436		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.290C>G	1.37:g.93300436C>G	ENSP00000359345:p.Ala97Gly		Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.A97G	ENST00000370321.3	37	c.290	CCDS741.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.126071	0.94429	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.80566	-1.39	5.14	5.14	0.70334	.	0.052251	0.85682	D	0.000000	D	0.90208	0.6939	H	0.98295	4.195	0.80722	D	1	B	0.32302	0.363	B	0.43623	0.425	D	0.91905	0.5535	10	0.87932	D	0	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	97	P46777	RL5_HUMAN	G	47;97;47	ENSP00000359345:A97G	ENSP00000359338:A47G	A	+	2	0	RPL5	93073024	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.626000	0.83164	2.398000	0.81561	0.655000	0.94253	GCA	RPL5	-	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	ENSG00000122406		0.458	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	HGNC	protein_coding	OTTHUMT00000030058.2	134	0.00	0	C	NM_000969		93300436	93300436	+1	no_errors	ENST00000370321	ensembl	human	known	69_37n	missense	89	35.97	50	SNP	1.000	G
SEPT10	151011	genome.wustl.edu	37	2	110301779	110301779	+	3'UTR	SNP	A	A	C	rs200598502	byFrequency	TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr2:110301779A>C	ENST00000397712.2	-	0	1850				SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000356688.4_Missense_Mutation_p.F519V	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*107T>G	2.37:g.110301779A>C			B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.F519V	ENST00000397712.2	37	c.1555	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	A	8.972	0.973228	0.18736	.	.	ENSG00000186522	ENST00000356688	T	0.54279	0.58	5.37	1.66	0.24008	.	1.901300	0.02724	N	0.114273	T	0.40645	0.1125	.	.	.	0.20638	N	0.999879	B	0.06786	0.001	B	0.08055	0.003	T	0.31194	-0.9952	9	0.87932	D	0	.	2.1719	0.03852	0.5923:0.1635:0.0874:0.1567	.	519	B5ME97	.	V	519	ENSP00000349116:F519V	ENSP00000349116:F519V	F	-	1	0	SEPT10	109659068	0.087000	0.21565	0.491000	0.27477	0.028000	0.11728	0.685000	0.25378	0.099000	0.17552	0.482000	0.46254	TTT	SEPT10	-	NULL	ENSG00000186522		0.338	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	21	0.00	0	A	NM_144710		110301779	110301779	-1	no_errors	ENST00000356688	ensembl	human	putative	69_37n	missense	19	29.63	8	SNP	0.348	C
SLCO1B1	10599	genome.wustl.edu	37	12	21329823	21329823	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr12:21329823T>C	ENST00000256958.2	+	5	569	c.473T>C	c.(472-474)gTg>gCg	p.V158A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	158					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CCTGAGATAGTGGGAAAAGGT	0.259																																						dbGAP											0													65.0	67.0	66.0					12																	21329823		2203	4281	6484	-	-	-	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.473T>C	12.37:g.21329823T>C	ENSP00000256958:p.Val158Ala		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V158A	ENST00000256958.2	37	c.473	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632638	0.29068	.	.	ENSG00000134538	ENST00000256958	T	0.38401	1.14	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.020610	0.00644	N	0.000537	T	0.39517	0.1081	L	0.60455	1.87	0.09310	N	1	B	0.16603	0.018	B	0.24701	0.055	T	0.28364	-1.0046	10	0.20519	T	0.43	.	8.5883	0.33670	0.0:0.0:0.0:1.0	.	158	Q9Y6L6	SO1B1_HUMAN	A	158	ENSP00000256958:V158A	ENSP00000256958:V158A	V	+	2	0	SLCO1B1	21221090	0.000000	0.05858	0.001000	0.08648	0.286000	0.27126	-0.037000	0.12164	1.591000	0.50007	0.254000	0.18369	GTG	SLCO1B1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.259	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	238	0.00	0	T	NM_006446		21329823	21329823	+1	no_errors	ENST00000256958	ensembl	human	known	69_37n	missense	112	39.13	72	SNP	0.002	C
SLCO1B1	10599	genome.wustl.edu	37	12	21329823	21329823	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr12:21329823T>C	ENST00000256958.2	+	5	569	c.473T>C	c.(472-474)gTg>gCg	p.V158A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	158					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CCTGAGATAGTGGGAAAAGGT	0.259																																						dbGAP											0													65.0	67.0	66.0					12																	21329823		2203	4281	6484	-	-	-	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.473T>C	12.37:g.21329823T>C	ENSP00000256958:p.Val158Ala		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V158A	ENST00000256958.2	37	c.473	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632638	0.29068	.	.	ENSG00000134538	ENST00000256958	T	0.38401	1.14	3.52	3.52	0.40303	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.020610	0.00644	N	0.000537	T	0.39517	0.1081	L	0.60455	1.87	0.09310	N	1	B	0.16603	0.018	B	0.24701	0.055	T	0.28364	-1.0046	10	0.20519	T	0.43	.	8.5883	0.33670	0.0:0.0:0.0:1.0	.	158	Q9Y6L6	SO1B1_HUMAN	A	158	ENSP00000256958:V158A	ENSP00000256958:V158A	V	+	2	0	SLCO1B1	21221090	0.000000	0.05858	0.001000	0.08648	0.286000	0.27126	-0.037000	0.12164	1.591000	0.50007	0.254000	0.18369	GTG	SLCO1B1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.259	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	197	0.00	0	T	NM_006446		21329823	21329823	+1	no_errors	ENST00000256958	ensembl	human	known	69_37n	missense	112	39.13	72	SNP	0.002	C
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	19	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	40	32.20	19	SNP	0.994	A
UBR5	51366	genome.wustl.edu	37	8	103335715	103335715	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr8:103335715C>A	ENST00000520539.1	-	14	2214	c.1608G>T	c.(1606-1608)ttG>ttT	p.L536F	UBR5_ENST00000521922.1_Missense_Mutation_p.L530F|UBR5_ENST00000220959.4_Missense_Mutation_p.L536F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	536					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATTATTTCTCAAGCATACCT	0.303																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													55.0	49.0	51.0					8																	103335715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1608G>T	8.37:g.103335715C>A	ENSP00000429084:p.Leu536Phe		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.L536F	ENST00000520539.1	37	c.1608	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068085	0.55539	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53206	0.63;0.63;0.63	5.78	2.06	0.26882	.	0.000000	0.64402	D	0.000001	T	0.42743	0.1216	L	0.33485	1.01	0.50813	D	0.999896	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	T	0.13683	-1.0500	10	0.40728	T	0.16	.	9.2968	0.37819	0.0:0.2115:0.0:0.7885	.	530;536	E7EMW7;O95071	.;UBR5_HUMAN	F	536;536;530	ENSP00000429084:L536F;ENSP00000220959:L536F;ENSP00000427819:L530F	ENSP00000220959:L536F	L	-	3	2	UBR5	103404891	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.588000	0.36633	0.110000	0.17919	-0.469000	0.05056	TTG	UBR5	-	NULL	ENSG00000104517		0.303	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	160	0.00	0	C	NM_015902		103335715	103335715	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	162	22.38	47	SNP	1.000	A
UBR5	51366	genome.wustl.edu	37	8	103335715	103335715	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr8:103335715C>A	ENST00000520539.1	-	14	2214	c.1608G>T	c.(1606-1608)ttG>ttT	p.L536F	UBR5_ENST00000521922.1_Missense_Mutation_p.L530F|UBR5_ENST00000220959.4_Missense_Mutation_p.L536F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	536					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATTATTTCTCAAGCATACCT	0.303																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													55.0	49.0	51.0					8																	103335715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1608G>T	8.37:g.103335715C>A	ENSP00000429084:p.Leu536Phe		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.L536F	ENST00000520539.1	37	c.1608	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068085	0.55539	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53206	0.63;0.63;0.63	5.78	2.06	0.26882	.	0.000000	0.64402	D	0.000001	T	0.42743	0.1216	L	0.33485	1.01	0.50813	D	0.999896	D;D	0.54207	0.965;0.965	P;P	0.51016	0.656;0.656	T	0.13683	-1.0500	10	0.40728	T	0.16	.	9.2968	0.37819	0.0:0.2115:0.0:0.7885	.	530;536	E7EMW7;O95071	.;UBR5_HUMAN	F	536;536;530	ENSP00000429084:L536F;ENSP00000220959:L536F;ENSP00000427819:L530F	ENSP00000220959:L536F	L	-	3	2	UBR5	103404891	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.588000	0.36633	0.110000	0.17919	-0.469000	0.05056	TTG	UBR5	-	NULL	ENSG00000104517		0.303	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	149	0.00	0	C	NM_015902		103335715	103335715	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	162	22.38	47	SNP	1.000	A
WDR13	64743	genome.wustl.edu	37	X	48457777	48457777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chrX:48457777delG	ENST00000218056.5	+	3	824	c.319delG	c.(319-321)gggfs	p.G107fs	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Frame_Shift_Del_p.G107fs	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	107						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGGGGCCCGTGGGCACCGTCG	0.612																																						dbGAP											0													25.0	23.0	24.0					X																	48457777		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.319delG	X.37:g.48457777delG	ENSP00000218056:p.Gly107fs		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H108fs	ENST00000218056.5	37	c.319	CCDS14302.1	X																																																																																			WDR13	-	NULL	ENSG00000101940		0.612	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	29	0.00	0	G			48457777	48457777	+1	no_errors	ENST00000218056	ensembl	human	known	69_37n	frame_shift_del	9	23.08	3	DEL	1.000	-
WDR13	64743	genome.wustl.edu	37	X	48457777	48457777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chrX:48457777delG	ENST00000218056.5	+	3	824	c.319delG	c.(319-321)gggfs	p.G107fs	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Frame_Shift_Del_p.G107fs	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	107						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GGGGGCCCGTGGGCACCGTCG	0.612																																						dbGAP											0													25.0	23.0	24.0					X																	48457777		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.319delG	X.37:g.48457777delG	ENSP00000218056:p.Gly107fs		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H108fs	ENST00000218056.5	37	c.319	CCDS14302.1	X																																																																																			WDR13	-	NULL	ENSG00000101940		0.612	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	36	0.00	0	G			48457777	48457777	+1	no_errors	ENST00000218056	ensembl	human	known	69_37n	frame_shift_del	9	23.08	3	DEL	1.000	-
ZNF831	128611	genome.wustl.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C	rs570895195		TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)gccfs	p.A49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								44,3536		1,42,1747						2.3	0.9			18	50,7732		0,50,3841	no	frameshift	ZNF831	NM_178457.1		1,92,5588	A1A1,A1R,RR		0.6425,1.2291,0.8273				94,11268				-	-	-	SO:0001589	frameshift_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.153dupC	20.37:g.57766227_57766227dupC	ENSP00000360069:p.Ala49fs		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T52fs	ENST00000371030.2	37	c.145_146	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.728	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	21	0.00	0	-	NM_178457		57766219	57766220	+1	no_errors	ENST00000371030	ensembl	human	novel	69_37n	frame_shift_ins	50	10.71	6	INS	0.658:0.643	C
ZPLD1	131368	genome.wustl.edu	37	3	102196287	102196287	+	Splice_Site	SNP	G	G	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr3:102196287G>A	ENST00000491959.1	+	18	1955	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	ZPLD1_ENST00000466937.1_Splice_Site_p.G358D|ZPLD1_ENST00000306176.1_Splice_Site_p.G374D			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	358						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTATTTGCAGGTTCTCCAAGT	0.438																																						dbGAP											0													199.0	207.0	204.0					3																	102196287		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1073-1G>A	3.37:g.102196287G>A			Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.G374D	ENST00000491959.1	37	c.1121		3	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416744	0.62511	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81163	-1.44;-1.46;-1.44	6.08	6.08	0.98989	.	0.213760	0.49305	D	0.000155	T	0.78923	0.4360	N	0.14661	0.345	0.48696	D	0.999697	D;P	0.63046	0.992;0.769	P;B	0.59546	0.859;0.282	T	0.77078	-0.2721	9	.	.	.	.	15.8933	0.79318	0.0:0.2353:0.7647:0.0	.	374;358	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	D	358;374;358	ENSP00000420265:G358D;ENSP00000307801:G374D;ENSP00000418253:G358D	.	G	+	2	0	ZPLD1	103678977	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	1.479000	0.35453	2.890000	0.99128	0.655000	0.94253	GGT	ZPLD1	-	NULL	ENSG00000170044		0.438	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	367	0.00	0	G	NM_175056	Missense_Mutation	102196287	102196287	+1	no_errors	ENST00000306176	ensembl	human	known	69_37n	missense	272	35.92	153	SNP	1.000	A
ZPLD1	131368	genome.wustl.edu	37	3	102196287	102196287	+	Splice_Site	SNP	G	G	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr3:102196287G>A	ENST00000491959.1	+	18	1955	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	ZPLD1_ENST00000466937.1_Splice_Site_p.G358D|ZPLD1_ENST00000306176.1_Splice_Site_p.G374D			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	358						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTATTTGCAGGTTCTCCAAGT	0.438																																						dbGAP											0													199.0	207.0	204.0					3																	102196287		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1073-1G>A	3.37:g.102196287G>A			Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.G374D	ENST00000491959.1	37	c.1121		3	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416744	0.62511	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.81163	-1.44;-1.46;-1.44	6.08	6.08	0.98989	.	0.213760	0.49305	D	0.000155	T	0.78923	0.4360	N	0.14661	0.345	0.48696	D	0.999697	D;P	0.63046	0.992;0.769	P;B	0.59546	0.859;0.282	T	0.77078	-0.2721	9	.	.	.	.	15.8933	0.79318	0.0:0.2353:0.7647:0.0	.	374;358	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	D	358;374;358	ENSP00000420265:G358D;ENSP00000307801:G374D;ENSP00000418253:G358D	.	G	+	2	0	ZPLD1	103678977	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	1.479000	0.35453	2.890000	0.99128	0.655000	0.94253	GGT	ZPLD1	-	NULL	ENSG00000170044		0.438	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	353	0.00	0	G	NM_175056	Missense_Mutation	102196287	102196287	+1	no_errors	ENST00000306176	ensembl	human	known	69_37n	missense	272	35.92	153	SNP	1.000	A
ZRANB3	84083	genome.wustl.edu	37	2	135966549	135966549	+	Splice_Site	SNP	C	C	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-11A-53W-A100-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f539c3f0-3eb3-4279-8979-d81cb7db8e58	g.chr2:135966549C>A	ENST00000264159.6	-	18	2612		c.e18-1		ZRANB3_ENST00000401392.1_Splice_Site|ZRANB3_ENST00000412849.1_Splice_Site|ZRANB3_ENST00000536680.1_Splice_Site	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3						cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGTTATGTATCTAAAACAATG	0.388																																						dbGAP											0													103.0	98.0	99.0					2																	135966549		1877	4104	5981	-	-	-	SO:0001630	splice_region_variant	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2496-1G>T	2.37:g.135966549C>A			B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Splice_Site	SNP	-	e17-1	ENST00000264159.6	37	c.2496-1	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088311	0.76756	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6407	0.88135	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZRANB3	135683019	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.218000	0.65257	2.709000	0.92574	0.655000	0.94253	.	ZRANB3	-	-	ENSG00000121988		0.388	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	84	0.00	0	C	NM_032143	Intron	135966549	135966549	-1	no_errors	ENST00000264159	ensembl	human	known	69_37n	splice_site	46	39.47	30	SNP	1.000	A
ZRANB3	84083	genome.wustl.edu	37	2	135966549	135966549	+	Splice_Site	SNP	C	C	A			TCGA-A7-A0D9-01A-31W-A071-09	TCGA-A7-A0D9-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c730a631-f3d0-4d7d-945a-b65c7a5a4d58	f671adda-19b8-4329-85a0-e25c344a92db	g.chr2:135966549C>A	ENST00000264159.6	-	18	2612		c.e18-1		ZRANB3_ENST00000401392.1_Splice_Site|ZRANB3_ENST00000412849.1_Splice_Site|ZRANB3_ENST00000536680.1_Splice_Site	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3						cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGTTATGTATCTAAAACAATG	0.388																																						dbGAP											0													103.0	98.0	99.0					2																	135966549		1877	4104	5981	-	-	-	SO:0001630	splice_region_variant	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2496-1G>T	2.37:g.135966549C>A			B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Splice_Site	SNP	-	e17-1	ENST00000264159.6	37	c.2496-1	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088311	0.76756	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6407	0.88135	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZRANB3	135683019	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.218000	0.65257	2.709000	0.92574	0.655000	0.94253	.	ZRANB3	-	-	ENSG00000121988		0.388	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	62	0.00	0	C	NM_032143	Intron	135966549	135966549	-1	no_errors	ENST00000264159	ensembl	human	known	69_37n	splice_site	46	39.47	30	SNP	1.000	A
