#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AGRN	375790	genome.wustl.edu	37	1	970683	970683	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr1:970683G>T	ENST00000379370.2	+	3	540	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	164					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CTTCACTCCAGTGCCTCCGAC	0.602																																						dbGAP											0													134.0	142.0	139.0					1																	970683		2203	4300	6503	-	-	-	SO:0001583	missense	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.490G>T	1.37:g.970683G>T	ENSP00000368678:p.Val164Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.V164L	ENST00000379370.2	37	c.490	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	G	7.637	0.680056	0.14907	.	.	ENSG00000188157	ENST00000379370	T	0.74947	-0.89	3.98	2.98	0.34508	.	0.768024	0.10727	U	0.641113	T	0.43567	0.1253	N	0.08118	0	0.09310	N	1	P	0.41188	0.741	B	0.30782	0.12	T	0.26360	-1.0105	10	0.10111	T	0.7	-2.8858	5.6481	0.17600	0.1259:0.2059:0.6682:0.0	.	164	O00468	AGRIN_HUMAN	L	164	ENSP00000368678:V164L	ENSP00000368678:V164L	V	+	1	0	AGRN	960546	0.011000	0.17503	0.192000	0.23308	0.024000	0.10985	0.952000	0.29149	1.942000	0.56320	0.479000	0.44913	GTG	AGRN	-	NULL	ENSG00000188157		0.602	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	49	0.00	0	G	NM_198576		970683	970683	+1	no_errors	ENST00000379370	ensembl	human	known	69_37n	missense	33	44.07	26	SNP	0.002	T
ANK2	287	genome.wustl.edu	37	4	114257088	114257088	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr4:114257088C>T	ENST00000357077.4	+	30	3519	c.3466C>T	c.(3466-3468)Cgt>Tgt	p.R1156C	ANK2_ENST00000506722.1_Missense_Mutation_p.R1147C|ANK2_ENST00000264366.6_Missense_Mutation_p.R1123C|ANK2_ENST00000394537.3_Missense_Mutation_p.R1156C|ANK2_ENST00000509550.1_Missense_Mutation_p.R332C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1156	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R1156C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTGGTGTCTCGTATCAAACA	0.527																																						dbGAP											1	Substitution - Missense(1)	biliary_tract(1)											120.0	115.0	117.0					4																	114257088		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3466C>T	4.37:g.114257088C>T	ENSP00000349588:p.Arg1156Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R1156C	ENST00000357077.4	37	c.3466	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.555021|4.555021	0.86231|0.86231	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960	T;T;T;T;D;D;T|T	0.81908|0.72505	-0.99;-0.99;-0.99;-0.99;-1.55;-1.54;-0.99|-0.66	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.49916|.	D|.	0.000134|.	D|D	0.87398|0.87398	0.6167|0.6167	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.995|.	D;D;D;D;D;D;D|.	0.97110|.	0.997;0.997;0.997;1.0;1.0;0.995;0.975|.	D|D	0.90008|0.90008	0.4119|0.4119	9|6	.|.	.|.	.|.	.|.	18.6117|18.6117	0.91288|0.91288	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	332;1123;168;1156;1156;1147;1147|.	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9|.	.;ANK2_HUMAN;.;.;.;.;.|.	C|L	1069;1147;202;1171;1156;1156;1123;1147;332|168	ENSP00000421011:R1069C;ENSP00000421067:R1147C;ENSP00000424722:R1171C;ENSP00000378044:R1156C;ENSP00000349588:R1156C;ENSP00000264366:R1123C;ENSP00000426944:R332C|ENSP00000422853:S168L	.|.	R|S	+|+	1|2	0|0	ANK2|ANK2	114476537|114476537	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.955000|0.955000	0.61496|0.61496	4.753000|4.753000	0.62183|0.62183	2.455000|2.455000	0.83008|0.83008	0.655000|0.655000	0.94253|0.94253	CGT|TCG	ANK2	-	NULL	ENSG00000145362		0.527	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	49	0.00	0	C	NM_001148		114257088	114257088	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	36	36.84	21	SNP	0.998	T
ARIH2	10425	genome.wustl.edu	37	3	49011143	49011143	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr3:49011143G>A	ENST00000356401.4	+	9	1121	c.782G>A	c.(781-783)cGt>cAt	p.R261H	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.R261H	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	261					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TTCAAGTGTCGTCAGATGTAT	0.403																																						dbGAP											0													102.0	92.0	95.0					3																	49011143		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.782G>A	3.37:g.49011143G>A	ENSP00000348769:p.Arg261His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.R261H	ENST00000356401.4	37	c.782	CCDS2780.1	3	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896819	0.72639	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	T;T	0.80994	-1.44;-1.44	5.7	5.7	0.88788	Zinc finger, C6HC-type (2);Zinc finger, CCHC-type (1);	0.046168	0.85682	N	0.000000	D	0.85531	0.5718	L	0.34521	1.04	0.80722	D	1	B;D;B	0.76494	0.031;0.999;0.009	B;D;B	0.80764	0.007;0.994;0.007	D	0.84676	0.0714	10	0.42905	T	0.14	.	19.8372	0.96661	0.0:0.0:1.0:0.0	.	268;261;261	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	H	261;261;260;85	ENSP00000348769:R261H;ENSP00000403222:R261H	ENSP00000348769:R261H	R	+	2	0	ARIH2	48986147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.434000	0.97515	2.695000	0.91970	0.462000	0.41574	CGT	ARIH2	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000177479		0.403	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	69	0.00	0	G	NM_006321		49011143	49011143	+1	no_errors	ENST00000356401	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	1.000	A
ATF6B	1388	genome.wustl.edu	37	6	32094895	32094895	+	Silent	SNP	T	T	C			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr6:32094895T>C	ENST00000375203.3	-	4	359	c.327A>G	c.(325-327)acA>acG	p.T109T	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Silent_p.T106T	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	109					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGATGGCTCTGTGGAGAGAC	0.522																																						dbGAP											0													47.0	44.0	45.0					6																	32094895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.327A>G	6.37:g.32094895T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.T109	ENST00000375203.3	37	c.327	CCDS4737.1	6																																																																																			ATF6B	-	NULL	ENSG00000213676		0.522	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	56	0.00	0	T			32094895	32094895	-1	no_errors	ENST00000375203	ensembl	human	known	69_37n	silent	35	25.53	12	SNP	0.581	C
ATN1	1822	genome.wustl.edu	37	12	7045891	7045892	+	In_Frame_Ins	INS	-	-	CAG	rs199920334|rs377147612|rs150855426|rs60216939	byFrequency	TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr12:7045891_7045892insCAG	ENST00000356654.4	+	5	1698_1699	c.1461_1462insCAG	c.(1462-1464)cag>CAGcag	p.488_488Q>QQ	ATN1_ENST00000396684.2_In_Frame_Ins_p.488_488Q>QQ	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	488	Poly-Gln.		Missing. {ECO:0000269|PubMed:7485154, ECO:0000269|PubMed:7842016, ECO:0000269|PubMed:8965642}.		cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.Q487_Q488insQ(1)|p.Q488delQ(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcaacagcaacagcagcagca	0.634																																						dbGAP											2	Insertion - In frame(1)|Deletion - In frame(1)	breast(2)																																								-	-	-	SO:0001652	inframe_insertion	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1504_1506dupCAG	12.37:g.7045898_7045900dupCAG	ENSP00000349076:p.Gln502dup	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99495|Q99621|Q9UEK7	In_Frame_Ins	INS	pfam_Atrophin-like,prints_Atrophin-1	p.491in_frame_insQ	ENST00000356654.4	37	c.1461_1462	CCDS31734.1	12																																																																																			ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.634	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	35	0.00	0	-	NM_001940		7045891	7045892	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	in_frame_ins	43	12.24	6	INS	0.002:0.834	CAG
ATG101	60673	genome.wustl.edu	37	12	52467488	52467488	+	Silent	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr12:52467488G>A	ENST00000336854.4	+	3	532	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		18					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGCAGGTGGAGGAGGCCATGC	0.602																																						dbGAP											0													98.0	88.0	91.0					12																	52467488		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000336854.4:c.54G>A	12.37:g.52467488G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAE2|Q9HBN1	Silent	SNP	pfam_ATG101	p.E18	ENST00000336854.4	37	c.54	CCDS8820.1	12																																																																																			C12orf44	-	pfam_ATG101	ENSG00000123395		0.602	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf44	HGNC	protein_coding	OTTHUMT00000405063.1	71	0.00	0	G			52467488	52467488	+1	no_errors	ENST00000336854	ensembl	human	known	69_37n	silent	63	13.70	10	SNP	1.000	A
CDH1	999	genome.wustl.edu	37	16	68844164	68844164	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr16:68844164C>A	ENST00000261769.5	+	6	943	c.752C>A	c.(751-753)aCg>aAg	p.T251K	CDH1_ENST00000422392.2_Missense_Mutation_p.T251K|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	251	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ATTTTGATCACGGTAACCGAT	0.473			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(4)	breast(4)											156.0	145.0	149.0					16																	68844164		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.752C>A	16.37:g.68844164C>A	ENSP00000261769:p.Thr251Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T251K	ENST00000261769.5	37	c.752	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142725	0.37825	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.52295	0.67;0.67	5.22	5.22	0.72569	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.129369	0.34853	N	0.003632	T	0.20700	0.0498	N	0.11154	0.105	0.46654	D	0.999142	P;B	0.36974	0.576;0.191	B;B	0.28709	0.093;0.03	T	0.25779	-1.0122	10	0.02654	T	1	.	11.6319	0.51181	0.2839:0.7161:0.0:0.0	.	251;251	Q9UII8;P12830	.;CADH1_HUMAN	K	251	ENSP00000261769:T251K;ENSP00000414946:T251K	ENSP00000261769:T251K	T	+	2	0	CDH1	67401665	0.027000	0.19231	0.582000	0.28627	0.348000	0.29142	0.948000	0.29096	2.592000	0.87571	0.557000	0.71058	ACG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.473	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	59	0.00	0	C	NM_004360		68844164	68844164	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	60	13.04	9	SNP	0.928	A
CDK12	51755	genome.wustl.edu	37	17	37619062	37619062	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr17:37619062T>A	ENST00000447079.4	+	1	771	c.738T>A	c.(736-738)taT>taA	p.Y246*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Y246*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	246					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCAAGATTATGACCTTAGTC	0.517			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													120.0	128.0	125.0					17																	37619062		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.738T>A	17.37:g.37619062T>A	ENSP00000398880:p.Tyr246*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y246*	ENST00000447079.4	37	c.738	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797944	0.90538	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	4.93	0.0979	0.14496	.	0.000000	0.39544	N	0.001332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-6.6033	10.5911	0.45310	0.0:0.4828:0.0:0.5172	.	.	.	.	X	246	.	ENSP00000407720:Y246X	Y	+	3	2	CDK12	34872588	0.940000	0.31905	0.995000	0.50966	0.974000	0.67602	-0.055000	0.11807	-0.032000	0.13758	0.379000	0.24179	TAT	CDK12	-	NULL	ENSG00000167258		0.517	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	22	0.00	0	T	NM_016507		37619062	37619062	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	nonsense	5	58.33	7	SNP	0.856	A
CDYL	9425	genome.wustl.edu	37	6	4935980	4935980	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr6:4935980C>T	ENST00000328908.5	+	5	1216	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	CDYL_ENST00000343762.5_Missense_Mutation_p.S176L|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.S308L|CDYL_ENST00000449732.2_Missense_Mutation_p.S176L			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	362					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ACAAAGTCCTCAGAGAATAAC	0.527																																						dbGAP											0													104.0	98.0	100.0					6																	4935980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1085C>T	6.37:g.4935980C>T	ENSP00000330512:p.Ser362Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.S362L	ENST00000328908.5	37	c.1085		6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996437	0.74818	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	6.07	6.07	0.98685	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.66939	2.045	0.80722	D	1	P;B	0.47106	0.89;0.295	P;B	0.44673	0.457;0.113	T	0.20174	-1.0283	9	.	.	.	.	19.6321	0.95713	0.0:1.0:0.0:0.0	.	308;362	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	L	362;88;308;176;176	ENSP00000330512:S362L;ENSP00000380718:S308L;ENSP00000394076:S176L;ENSP00000340908:S176L	.	S	+	2	0	CDYL	4880979	1.000000	0.71417	0.198000	0.23420	0.793000	0.44817	7.642000	0.83385	2.884000	0.98904	0.655000	0.94253	TCA	CDYL	-	pfam_Crotonase_core	ENSG00000153046		0.527	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1	58	0.00	0	C	NM_004824		4935980	4935980	+1	no_errors	ENST00000328908	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.997	T
CGN	57530	genome.wustl.edu	37	1	151509325	151509325	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr1:151509325T>A	ENST00000271636.7	+	20	3559	c.3426T>A	c.(3424-3426)aaT>aaA	p.N1142K		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1136					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATGAGGTCAATGAACAGCTCC	0.562																																						dbGAP											0													133.0	140.0	137.0					1																	151509325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3426T>A	1.37:g.151509325T>A	ENSP00000271636:p.Asn1142Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.N1142K	ENST00000271636.7	37	c.3426	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834354	0.50951	.	.	ENSG00000143375	ENST00000271636	T	0.77877	-1.13	5.41	-7.42	0.01388	Myosin tail (1);	0.086182	0.85682	D	0.000000	T	0.64159	0.2573	L	0.58810	1.83	0.39567	D	0.96922	P	0.35684	0.515	P	0.45406	0.479	T	0.68183	-0.5476	10	0.26408	T	0.33	-19.4617	16.7212	0.85410	0.0:0.6104:0.0:0.3896	.	1136	Q9P2M7	CING_HUMAN	K	1142	ENSP00000271636:N1142K	ENSP00000271636:N1142K	N	+	3	2	CGN	149775949	0.003000	0.15002	0.720000	0.30636	0.994000	0.84299	-1.507000	0.02268	-1.698000	0.01418	-0.250000	0.11733	AAT	CGN	-	pfam_Myosin_tail	ENSG00000143375		0.562	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	106	0.00	0	T	NM_020770		151509325	151509325	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	missense	103	35.62	57	SNP	0.441	A
CMKLR1	1240	genome.wustl.edu	37	12	108685826	108685826	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr12:108685826G>A	ENST00000312143.7	-	3	1277	c.914C>T	c.(913-915)gCc>gTc	p.A305V	CMKLR1_ENST00000412676.1_Missense_Mutation_p.A305V|CMKLR1_ENST00000397688.2_Missense_Mutation_p.A303V|CMKLR1_ENST00000552995.1_Missense_Mutation_p.A303V|CMKLR1_ENST00000550402.1_Missense_Mutation_p.A305V	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	305					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTGGCAATGGCAAGGGCAGT	0.557																																						dbGAP											0													65.0	69.0	68.0					12																	108685826		2048	4197	6245	-	-	-	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.914C>T	12.37:g.108685826G>A	ENSP00000311733:p.Ala305Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_DEZorph_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.A305V	ENST00000312143.7	37	c.914	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	21.2	4.113208	0.77210	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.236456	0.42172	D	0.000749	T	0.67961	0.2949	M	0.83953	2.67	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.73764	-0.3880	10	0.87932	D	0	.	17.7424	0.88410	0.0:0.0:1.0:0.0	.	305	Q99788	CML1_HUMAN	V	305;305;303;303;305	ENSP00000311733:A305V;ENSP00000401293:A305V;ENSP00000380803:A303V;ENSP00000447579:A303V;ENSP00000449716:A305V	ENSP00000311733:A305V	A	-	2	0	CMKLR1	107209956	1.000000	0.71417	0.996000	0.52242	0.518000	0.34316	9.581000	0.98210	2.413000	0.81919	0.550000	0.68814	GCC	CMKLR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000174600		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	68	0.00	0	G			108685826	108685826	-1	no_errors	ENST00000312143	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	1.000	A
CSNK1A1P1	161635	genome.wustl.edu	37	15	37110091	37110091	+	RNA	SNP	T	T	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr15:37110091T>A	ENST00000430593.3	-	0	569					NR_027320.1				casein kinase 1, alpha 1 pseudogene 1																		TACATTATAGTCTTCTTCCTG	0.468																																						dbGAP											0																																										-	-	-			0			BC028192		15q13.3	2010-09-21	2010-07-20	2010-07-20		ENSG00000223518			30446	pseudogene	pseudogene			"""casein kinase 1, alpha 1 pseudogene"""	CSNK1A1P			Standard	NR_027320		Approved		uc001zjg.4				15.37:g.37110091T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430593.3	37	NULL		15																																																																																			CSNK1A1P1	-	-	ENSG00000223518		0.468	CSNK1A1P1-002	KNOWN	basic	processed_transcript	CSNK1A1P1	HGNC	pseudogene	OTTHUMT00000419759.1	70	0.00	0	T	NR_027320		37110091	37110091	-1	no_errors	ENST00000430593	ensembl	human	known	69_37n	rna	37	13.95	6	SNP	1.000	A
CSTF3	1479	genome.wustl.edu	37	11	33120663	33120663	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr11:33120663C>T	ENST00000323959.4	-	12	1109	c.970G>A	c.(970-972)Gct>Act	p.A324T	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	324					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATATTAGCAGCTTCATCACTA	0.259																																						dbGAP											0													53.0	59.0	57.0					11																	33120663		2192	4286	6478	-	-	-	SO:0001583	missense	0			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.970G>A	11.37:g.33120663C>T	ENSP00000315791:p.Ala324Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.A324T	ENST00000323959.4	37	c.970	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568855	0.65765	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.39592	1.07	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);	0.165528	0.53938	D	0.000058	T	0.44117	0.1278	M	0.64170	1.965	0.80722	D	1	D	0.54964	0.969	B	0.42030	0.373	T	0.39663	-0.9603	10	0.26408	T	0.33	.	19.1065	0.93299	0.0:1.0:0.0:0.0	.	324	Q12996	CSTF3_HUMAN	T	324;257	ENSP00000315791:A324T	ENSP00000315791:A324T	A	-	1	0	CSTF3	33077239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.521000	0.84997	0.650000	0.86243	GCT	CSTF3	-	smart_HAT	ENSG00000176102		0.259	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	45	0.00	0	C	NM_001326		33120663	33120663	-1	no_errors	ENST00000323959	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	1.000	T
CXorf67	340602	genome.wustl.edu	37	X	51151186	51151186	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chrX:51151186C>T	ENST00000342995.2	+	1	1420	c.1318C>T	c.(1318-1320)Ccg>Tcg	p.P440S				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	440	Ser-rich.									breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTCCTCCTCCCCGAGTAGGTC	0.582																																						dbGAP											0													102.0	71.0	82.0					X																	51151186		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1318C>T	X.37:g.51151186C>T	ENSP00000342680:p.Pro440Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P440S	ENST00000342995.2	37	c.1318		X	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.857660	0.00558	.	.	ENSG00000187690	ENST00000342995	T	0.55930	0.49	3.4	-6.8	0.01709	.	2.664650	0.01739	N	0.029311	T	0.26231	0.0640	.	.	.	0.09310	N	1	B	0.19706	0.038	B	0.17722	0.019	T	0.26780	-1.0093	9	0.08837	T	0.75	5.7987	5.3504	0.16032	0.2457:0.5225:0.0:0.2317	.	440	Q86X51	CX067_HUMAN	S	440	ENSP00000342680:P440S	ENSP00000342680:P440S	P	+	1	0	CXorf67	51167926	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.378000	0.07446	-2.255000	0.00696	0.600000	0.82982	CCG	CXorf67	-	NULL	ENSG00000187690		0.582	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	CXorf67	HGNC	protein_coding		43	0.00	0	C	NM_203407		51151186	51151186	+1	no_errors	ENST00000342995	ensembl	human	known	69_37n	missense	30	30.23	13	SNP	0.000	T
DHRS4L2	317749	genome.wustl.edu	37	14	24470289	24470289	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr14:24470289C>G	ENST00000335125.6	+	5	653	c.527C>G	c.(526-528)tCt>tGt	p.S176C	DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.S174C|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000543805.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	174						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TTCAGTCCATCTCCTGTAAGA	0.522																																						dbGAP											0													150.0	146.0	147.0					14																	24470289		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.527C>G	14.37:g.24470289C>G	ENSP00000334801:p.Ser176Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3YLD4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S174C	ENST00000335125.6	37	c.521	CCDS9606.2	14	.	.	.	.	.	.	.	.	.	.	-	5.862	0.343234	0.11069	.	.	ENSG00000187630	ENST00000348916;ENST00000335125;ENST00000382755	T;T	0.30182	1.54;1.54	3.42	-0.457	0.12186	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.380247	0.29876	N	0.010968	T	0.22704	0.0548	M	0.67700	2.07	0.09310	N	1	P;P	0.41910	0.607;0.764	B;B	0.32022	0.139;0.097	T	0.13710	-1.0499	10	0.54805	T	0.06	.	6.7921	0.23705	0.0:0.236:0.0:0.764	.	174;174	D3YTE6;Q6PKH6	.;DR4L2_HUMAN	C	114;176;174	ENSP00000334801:S176C;ENSP00000372203:S174C	ENSP00000334801:S176C	S	+	2	0	DHRS4L2	23540129	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.682000	0.25335	-0.267000	0.09325	-1.031000	0.02408	TCT	DHRS4L2	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000187630		0.522	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	DHRS4L2	HGNC	protein_coding	OTTHUMT00000071858.4	290	0.00	0	C			24470289	24470289	+1	no_errors	ENST00000382755	ensembl	human	known	69_37n	missense	339	17.23	71	SNP	0.000	G
EEPD1	80820	genome.wustl.edu	37	7	36194147	36194147	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr7:36194147G>A	ENST00000242108.4	+	2	932	c.214G>A	c.(214-216)Ggt>Agt	p.G72S	EEPD1_ENST00000534978.1_Missense_Mutation_p.G72S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	72					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGAGTATATCGGTGGCTTCAA	0.597																																						dbGAP											0													102.0	101.0	101.0					7																	36194147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.214G>A	7.37:g.36194147G>A	ENSP00000242108:p.Gly72Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.G72S	ENST00000242108.4	37	c.214	CCDS34619.1	7	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664873	0.88251	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.35421	1.31;1.31	5.68	5.68	0.88126	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);	0.050432	0.85682	D	0.000000	T	0.68026	0.2956	M	0.93328	3.405	0.58432	D	0.999999	D	0.76494	0.999	D	0.65010	0.931	T	0.76691	-0.2866	10	0.87932	D	0	-17.1662	15.2989	0.73931	0.0:0.1394:0.8606:0.0	.	72	Q7L9B9	EEPD1_HUMAN	S	72	ENSP00000242108:G72S;ENSP00000442692:G72S	ENSP00000242108:G72S	G	+	1	0	EEPD1	36160672	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	9.352000	0.97076	2.683000	0.91414	0.561000	0.74099	GGT	EEPD1	-	superfamily_RuvA_2-like,tigrfam_Competence_ComEA_HhH	ENSG00000122547		0.597	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	60	0.00	0	G	NM_030636		36194147	36194147	+1	no_errors	ENST00000242108	ensembl	human	known	69_37n	missense	63	10.00	7	SNP	1.000	A
ESPNP	284729	genome.wustl.edu	37	1	17034573	17034573	+	RNA	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr1:17034573C>T	ENST00000492551.1	-	0	194					NR_026567.1				espin pseudogene																		CATTCACTCCCCTGCGGAGAC	0.701																																						dbGAP											0																																										-	-	-			0			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034573C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-	ENSG00000116219		0.701	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	28	0.00	0	C			17034573	17034573	-1	no_errors	ENST00000492551	ensembl	human	known	69_37n	rna	14	22.22	4	SNP	1.000	T
FAM120C	54954	genome.wustl.edu	37	X	54142996	54142996	+	Missense_Mutation	SNP	A	A	G			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chrX:54142996A>G	ENST00000375180.2	-	10	2350	c.2294T>C	c.(2293-2295)cTc>cCc	p.L765P	FAM120C_ENST00000328235.4_Missense_Mutation_p.L765P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	765							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACAACACATGAGCAGCAGATG	0.473																																						dbGAP											0													105.0	78.0	87.0					X																	54142996		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2294T>C	X.37:g.54142996A>G	ENSP00000364324:p.Leu765Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMT7	Missense_Mutation	SNP	NULL	p.L765P	ENST00000375180.2	37	c.2294	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520228	0.64747	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.48522	0.81;0.81	4.38	4.38	0.52667	.	0.143577	0.47852	D	0.000203	T	0.51753	0.1693	N	0.22421	0.69	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66847	0.947;0.921	T	0.56481	-0.7972	10	0.72032	D	0.01	-7.5408	11.9953	0.53198	1.0:0.0:0.0:0.0	.	765;765	F8W881;Q9NX05	.;F120C_HUMAN	P	765	ENSP00000364324:L765P;ENSP00000329896:L765P	ENSP00000329896:L765P	L	-	2	0	FAM120C	54159721	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.829000	0.92055	1.527000	0.49086	0.425000	0.28330	CTC	FAM120C	-	NULL	ENSG00000184083		0.473	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	70	0.00	0	A	NM_017848		54142996	54142996	-1	no_errors	ENST00000375180	ensembl	human	known	69_37n	missense	49	22.22	14	SNP	1.000	G
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	50	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	38	22.45	11	INS	0.033:0.036	GCA
FILIP1L	11259	genome.wustl.edu	37	3	99567539	99567539	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr3:99567539G>A	ENST00000354552.3	-	5	3451	c.2981C>T	c.(2980-2982)aCt>aTt	p.T994I	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.T570I|FILIP1L_ENST00000331335.5_Missense_Mutation_p.T994I|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.T754I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.T754I|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	994						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CCTTTCTGGAGTTAGAGAACC	0.507																																						dbGAP											0													80.0	79.0	79.0					3																	99567539		1985	4167	6152	-	-	-	SO:0001583	missense	0				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2981C>T	3.37:g.99567539G>A	ENSP00000346560:p.Thr994Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.T994I	ENST00000354552.3	37	c.2981	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019392	0.54576	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.24723	2.18;1.86;1.86;2.18;1.86;1.84	6.17	6.17	0.99709	.	0.000000	0.53938	D	0.000050	T	0.48732	0.1516	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.963	T	0.13899	-1.0492	10	0.48119	T	0.1	-12.9207	20.8794	0.99867	0.0:0.0:1.0:0.0	.	994;994	Q4L180-2;Q4L180	.;FIL1L_HUMAN	I	994;570;754;994;754;740;754	ENSP00000346560:T994I;ENSP00000417774:T570I;ENSP00000419642:T754I;ENSP00000327880:T994I;ENSP00000373192:T754I;ENSP00000419874:T754I	ENSP00000327880:T994I	T	-	2	0	FILIP1L	101050229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.944000	0.87722	2.941000	0.99782	0.655000	0.94253	ACT	FILIP1L	-	NULL	ENSG00000168386		0.507	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	66	0.00	0	G	NM_014890		99567539	99567539	-1	no_errors	ENST00000354552	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	A
GABRA4	2557	genome.wustl.edu	37	4	46930366	46930366	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr4:46930366C>T	ENST00000264318.3	-	9	2523	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	514					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G514D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTACTTGTGCCAGATCCAGA	0.433																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											1	Substitution - Missense(1)	lung(1)											135.0	131.0	132.0					4																	46930366		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1541G>A	4.37:g.46930366C>T	ENSP00000264318:p.Gly514Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.G514D	ENST00000264318.3	37	c.1541	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808089	0.90707	.	.	ENSG00000109158	ENST00000264318	D	0.84873	-1.91	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.87755	0.6257	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81326	-0.0983	10	0.06494	T	0.89	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	514	P48169	GBRA4_HUMAN	D	514	ENSP00000264318:G514D	ENSP00000264318:G514D	G	-	2	0	GABRA4	46625123	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.731000	0.84895	2.765000	0.95021	0.650000	0.86243	GGC	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.433	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	77	0.00	0	C			46930366	46930366	-1	no_errors	ENST00000264318	ensembl	human	known	69_37n	missense	68	12.82	10	SNP	1.000	T
GALNT12	79695	genome.wustl.edu	37	9	101611262	101611262	+	Missense_Mutation	SNP	A	A	C			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr9:101611262A>C	ENST00000375011.3	+	10	1634	c.1634A>C	c.(1633-1635)aAg>aCg	p.K545T	RP11-92C4.3_ENST00000433997.1_RNA|GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000589257.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	545	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GAACAGTCCAAGAAATGTGTC	0.418											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													113.0	97.0	102.0					9																	101611262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1634A>C	9.37:g.101611262A>C	ENSP00000364150:p.Lys545Thr	Somatic	1360	WXS	Illumina GAIIx	Phase_IV	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K545T	ENST00000375011.3	37	c.1634	CCDS6737.1	9	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706785	0.48412	.	.	ENSG00000119514	ENST00000375011	T	0.29917	1.55	5.74	2.13	0.27403	Ricin B-related lectin (1);Ricin B lectin (3);	0.564763	0.20240	N	0.096319	T	0.26521	0.0648	L	0.59436	1.845	0.24273	N	0.995237	B	0.33777	0.425	B	0.31812	0.136	T	0.16335	-1.0406	10	0.62326	D	0.03	.	6.7263	0.23359	0.6986:0.0:0.3014:0.0	.	545	Q8IXK2	GLT12_HUMAN	T	545	ENSP00000364150:K545T	ENSP00000364150:K545T	K	+	2	0	GALNT12	100651083	0.809000	0.29036	0.223000	0.23860	0.992000	0.81027	1.502000	0.35704	0.120000	0.18254	0.528000	0.53228	AAG	GALNT12	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000119514		0.418	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT12	HGNC	protein_coding	OTTHUMT00000053382.1	57	0.00	0	A	NM_024642		101611262	101611262	+1	no_errors	ENST00000375011	ensembl	human	known	69_37n	missense	61	12.86	9	SNP	0.933	C
IDS	3423	genome.wustl.edu	37	X	148584821	148584821	+	Intron	SNP	A	A	G			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chrX:148584821A>G	ENST00000340855.6	-	3	628				IDS_ENST00000428056.2_Missense_Mutation_p.S147P|IDS_ENST00000422081.2_Intron|IDS_ENST00000490775.1_Intron|IDS_ENST00000370441.4_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000370443.4_Intron|IDS_ENST00000427113.2_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAGAACCCAGACTCTGGACAT	0.542																																						dbGAP											0													106.0	80.0	88.0					X																	148584821		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.418+20T>C	X.37:g.148584821A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S147P	ENST00000340855.6	37	c.439	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274732	0.40194	.	.	ENSG00000010404	ENST00000428056	D	0.99889	-7.55	4.07	1.7	0.24286	.	.	.	.	.	D	0.99351	0.9772	.	.	.	0.19300	N	0.99998	B	0.24882	0.113	B	0.32211	0.142	D	0.99997	1.5793	8	0.62326	D	0.03	.	4.9463	0.13991	0.7398:0.0:0.2602:0.0	.	147	O60597	.	P	147	ENSP00000390241:S147P	ENSP00000390241:S147P	S	-	1	0	IDS	148392726	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	0.037000	0.13840	0.085000	0.17107	0.422000	0.28245	TCT	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000010404		0.542	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	108	0.00	0	A			148584821	148584821	-1	no_errors	ENST00000428056	ensembl	human	known	69_37n	missense	71	33.03	36	SNP	0.001	G
INADL	10207	genome.wustl.edu	37	1	62455912	62455912	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr1:62455912G>A	ENST00000371158.2	+	28	3857	c.3743G>A	c.(3742-3744)gGa>gAa	p.G1248E	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.G1248E|INADL_ENST00000543708.1_Missense_Mutation_p.G32E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1248	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATAAGAATGGACTTGGACTC	0.388																																						dbGAP											0													94.0	88.0	90.0					1																	62455912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3743G>A	1.37:g.62455912G>A	ENSP00000360200:p.Gly1248Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.G1248E	ENST00000371158.2	37	c.3743	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.204880	0.95033	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.63	5.63	0.86233	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.78097	0.4230	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81409	-0.0946	10	0.87932	D	0	.	19.6974	0.96031	0.0:0.0:1.0:0.0	.	32;707;1248;1248;1248	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	E	1248;1248;1248;1248;32;32	ENSP00000360200:G1248E;ENSP00000326199:G1248E;ENSP00000307496:G32E;ENSP00000445790:G32E	ENSP00000307496:G32E	G	+	2	0	INADL	62228500	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.650000	0.89964	0.655000	0.94253	GGA	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.388	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	53	0.00	0	G	NM_170605		62455912	62455912	+1	no_errors	ENST00000371158	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	1.000	A
LAMB2	3913	genome.wustl.edu	37	3	49169777	49169777	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr3:49169777T>C	ENST00000418109.1	-	4	475	c.311A>G	c.(310-312)cAc>cGc	p.H104R	LAMB2_ENST00000305544.4_Missense_Mutation_p.H104R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	104	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGATGGCTGTGTGGGTTGTC	0.572																																						dbGAP											0													111.0	117.0	115.0					3																	49169777		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.311A>G	3.37:g.49169777T>C	ENSP00000388325:p.His104Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.H104R	ENST00000418109.1	37	c.311	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236869	0.22711	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.74632	-0.86;-0.86	4.41	4.41	0.53225	Laminin, N-terminal (3);	1.066760	0.07264	N	0.867991	T	0.55194	0.1905	N	0.11427	0.14	0.19775	N	0.999954	B	0.13145	0.007	B	0.17979	0.02	T	0.42344	-0.9457	10	0.13108	T	0.6	.	8.4054	0.32612	0.1747:0.0:0.0:0.8253	.	104	P55268	LAMB2_HUMAN	R	104	ENSP00000388325:H104R;ENSP00000307156:H104R	ENSP00000307156:H104R	H	-	2	0	LAMB2	49144781	0.786000	0.28738	0.783000	0.31826	0.979000	0.70002	2.003000	0.40844	1.869000	0.54173	0.533000	0.62120	CAC	LAMB2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000172037		0.572	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	108	0.00	0	T	NM_002292		49169777	49169777	-1	no_errors	ENST00000305544	ensembl	human	known	69_37n	missense	61	26.51	22	SNP	0.544	C
LAP3	51056	genome.wustl.edu	37	4	17586655	17586655	+	Silent	SNP	C	C	G			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr4:17586655C>G	ENST00000226299.4	+	6	874	c.600C>G	c.(598-600)cgC>cgG	p.R200R	LAP3_ENST00000606142.1_Silent_p.R169R|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	200					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACTTGGCACGCCAATTGATGG	0.473																																						dbGAP											0													83.0	80.0	81.0					4																	17586655		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.600C>G	4.37:g.17586655C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.R200	ENST00000226299.4	37	c.600	CCDS3422.1	4																																																																																			LAP3	-	pfam_Peptidase_M17_C	ENSG00000002549		0.473	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	35	0.00	0	C			17586655	17586655	+1	no_errors	ENST00000226299	ensembl	human	known	69_37n	silent	38	15.56	7	SNP	0.941	G
MLLT10	8028	genome.wustl.edu	37	10	22016857	22016857	+	Splice_Site	SNP	G	G	C			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr10:22016857G>C	ENST00000307729.7	+	16	2241	c.2063G>C	c.(2062-2064)cGa>cCa	p.R688P	MLLT10_ENST00000377072.3_Splice_Site_p.R704P|MLLT10_ENST00000446906.2_Splice_Site_p.R688P|MLLT10_ENST00000377059.3_Splice_Site_p.R688P			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	688					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCTCGCCACGGTAAGCGCTA	0.423			T	"""MLL, PICALM, CDK6"""	AL																																	dbGAP		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0													58.0	55.0	56.0					10																	22016857		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2063+1G>C	10.37:g.22016857G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R688P	ENST00000307729.7	37	c.2063	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003697	0.74932	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	5.82	5.82	0.92795	.	0.061993	0.64402	D	0.000006	D	0.96741	0.8936	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.79108	0.974;0.941;0.992;0.941	D	0.96595	0.9440	10	0.62326	D	0.03	.	20.1064	0.97896	0.0:0.0:1.0:0.0	.	383;688;688;704	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	P	704;688;688;523;688;347;346	ENSP00000366272:R704P;ENSP00000401406:R688P;ENSP00000307411:R688P;ENSP00000366258:R688P	ENSP00000307411:R688P	R	+	2	0	MLLT10	22056863	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	5.817000	0.69229	2.745000	0.94114	0.650000	0.86243	CGA	MLLT10	-	NULL	ENSG00000078403		0.423	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	35	0.00	0	G		Missense_Mutation	22016857	22016857	+1	no_errors	ENST00000307729	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	C
MKX	283078	genome.wustl.edu	37	10	27964235	27964235	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr10:27964235T>C	ENST00000375790.5	-	7	1414	c.982A>G	c.(982-984)Acc>Gcc	p.T328A	MKX_ENST00000419761.1_Missense_Mutation_p.T328A			Q8IYA7	MKX_HUMAN	mohawk homeobox	328					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATGCAGCTGGTAGTTCCCTGC	0.468																																						dbGAP											0													275.0	235.0	249.0					10																	27964235		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.982A>G	10.37:g.27964235T>C	ENSP00000364946:p.Thr328Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.T328A	ENST00000375790.5	37	c.982	CCDS7156.1	10	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243213	0.39697	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.15487	2.42;2.42	5.6	-1.24	0.09435	.	0.226336	0.45361	N	0.000377	T	0.14874	0.0359	L	0.55481	1.735	0.49299	D	0.99977	B	0.06786	0.001	B	0.08055	0.003	T	0.06807	-1.0806	10	0.49607	T	0.09	-6.1959	10.1672	0.42888	0.0:0.3913:0.0:0.6087	.	328	Q8IYA7	MKX_HUMAN	A	328	ENSP00000364946:T328A;ENSP00000400896:T328A	ENSP00000364946:T328A	T	-	1	0	MKX	28004241	0.997000	0.39634	0.029000	0.17559	0.996000	0.88848	2.835000	0.48175	-0.371000	0.08004	0.528000	0.53228	ACC	MKX	-	NULL	ENSG00000150051		0.468	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKX	HGNC	protein_coding	OTTHUMT00000047332.3	186	0.00	0	T	NM_173576		27964235	27964235	-1	no_errors	ENST00000375790	ensembl	human	known	69_37n	missense	146	12.50	21	SNP	0.467	C
NLRC5	84166	genome.wustl.edu	37	16	57063982	57063982	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr16:57063982G>C	ENST00000262510.6	+	10	2628	c.2403G>C	c.(2401-2403)agG>agC	p.R801S	NLRC5_ENST00000308149.7_Missense_Mutation_p.R801S|NLRC5_ENST00000436936.1_Missense_Mutation_p.R801S|NLRC5_ENST00000539144.1_Missense_Mutation_p.R801S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	801					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTACCGTCAGGATGCTTCAGG	0.562																																						dbGAP											0													116.0	88.0	98.0					16																	57063982		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2403G>C	16.37:g.57063982G>C	ENSP00000262510:p.Arg801Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.R801S	ENST00000262510.6	37	c.2403	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.748|6.748	0.506897|0.506897	0.12883|0.12883	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.|T;T;T;T;T;T	.|0.54279	.|0.58;0.58;0.58;0.58;0.58;0.6	4.86|4.86	1.59|1.59	0.23543|0.23543	.|.	.|0.672165	.|0.12346	.|N	.|0.477013	T|T	0.34077|0.34077	0.0885|0.0885	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.19331	.|0.01;0.005;0.035;0.006	.|B;B;B;B	.|0.19666	.|0.007;0.015;0.026;0.011	T|T	0.17868|0.17868	-1.0355|-1.0355	5|10	.|0.27785	.|T	.|0.31	.|.	3.4058|3.4058	0.07340|0.07340	0.0925:0.3081:0.4359:0.1635|0.0925:0.3081:0.4359:0.1635	.|.	.|801;801;801;801	.|Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	H|S	554|801;801;801;275;801;308;100	.|ENSP00000262510:R801S;ENSP00000308886:R801S;ENSP00000389739:R801S;ENSP00000441727:R801S;ENSP00000441597:R308S;ENSP00000440153:R100S	.|ENSP00000262510:R801S	D|R	+|+	1|3	0|2	NLRC5|NLRC5	55621483|55621483	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	0.180000|0.180000	0.16860|0.16860	0.636000|0.636000	0.30508|0.30508	-0.257000|-0.257000	0.10917|0.10917	GAT|AGG	NLRC5	-	NULL	ENSG00000140853		0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	65	0.00	0	G	NM_032206		57063982	57063982	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	missense	80	11.11	10	SNP	0.000	C
NRF1	4899	genome.wustl.edu	37	7	129349050	129349050	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr7:129349050C>A	ENST00000393232.1	+	6	859	c.742C>A	c.(742-744)Cgc>Agc	p.R248S	NRF1_ENST00000311967.2_Missense_Mutation_p.R248S|NRF1_ENST00000393230.2_Missense_Mutation_p.R248S|NRF1_ENST00000223190.4_Missense_Mutation_p.R248S|NRF1_ENST00000539636.1_Missense_Mutation_p.R87S|NRF1_ENST00000393231.3_Missense_Mutation_p.R248S|NRF1_ENST00000353868.4_Missense_Mutation_p.R248S	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R248S(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GAGTGATGTCCGCACAGAAGA	0.498																																						dbGAP											1	Substitution - Missense(1)	lung(1)											124.0	126.0	126.0					7																	129349050		2203	4300	6503	-	-	-	SO:0001583	missense	0			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.742C>A	7.37:g.129349050C>A	ENSP00000376924:p.Arg248Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	pfam_Nrf1_NLS/DNA-bd_dimer,pfam_Nrf1_activation-bd	p.R248S	ENST00000393232.1	37	c.742	CCDS5813.2	7	.	.	.	.	.	.	.	.	.	.	C	34	5.359601	0.95854	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.85	5.85	0.93711	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:1.0:0.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	S	248;248;87;248;248;248;248	ENSP00000376924:R248S;ENSP00000440455:R87S;ENSP00000223190:R248S;ENSP00000309826:R248S;ENSP00000376922:R248S;ENSP00000376923:R248S	.	R	+	1	0	NRF1	129136286	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.529000	0.81952	2.772000	0.95346	0.655000	0.94253	CGC	NRF1	-	pfam_Nrf1_NLS/DNA-bd_dimer	ENSG00000106459		0.498	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	HGNC	protein_coding	OTTHUMT00000289813.1	58	0.00	0	C	NM_001040110		129349050	129349050	+1	no_errors	ENST00000393231	ensembl	human	known	69_37n	missense	52	11.86	7	SNP	1.000	A
NTNG1	22854	genome.wustl.edu	37	1	107867331	107867331	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr1:107867331T>A	ENST00000370068.1	+	3	1520	c.674T>A	c.(673-675)aTc>aAc	p.I225N	NTNG1_ENST00000370061.3_Missense_Mutation_p.I225N|NTNG1_ENST00000370065.1_Missense_Mutation_p.I225N|NTNG1_ENST00000370066.1_Missense_Mutation_p.I225N|NTNG1_ENST00000370074.4_Missense_Mutation_p.I225N|NTNG1_ENST00000370067.1_Missense_Mutation_p.I225N|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370073.2_Missense_Mutation_p.I225N|NTNG1_ENST00000370070.2_Missense_Mutation_p.I225N|NTNG1_ENST00000542803.1_Missense_Mutation_p.I225N|NTNG1_ENST00000370071.2_Missense_Mutation_p.I225N|NTNG1_ENST00000370072.3_Missense_Mutation_p.I225N			Q9Y2I2	NTNG1_HUMAN	netrin G1	225	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CACTTTGAAATCAAAGACAGG	0.413																																						dbGAP											0													104.0	100.0	101.0					1																	107867331		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.674T>A	1.37:g.107867331T>A	ENSP00000359085:p.Ile225Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.I225N	ENST00000370068.1	37	c.674	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233879	0.79688	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	6.05	6.05	0.98169	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000007	D	0.82499	0.5050	M	0.66939	2.045	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.704;1.0;1.0	D;D;B;D;D	0.97110	1.0;1.0;0.429;0.998;0.984	D	0.84197	0.0448	10	0.62326	D	0.03	.	16.6	0.84812	0.0:0.0:0.0:1.0	.	225;225;225;225;225	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	N	225	ENSP00000359090:I225N;ENSP00000359088:I225N;ENSP00000440561:I225N;ENSP00000359078:I225N;ENSP00000359089:I225N;ENSP00000359087:I225N;ENSP00000359091:I225N;ENSP00000359085:I225N;ENSP00000359084:I225N;ENSP00000359083:I225N;ENSP00000359082:I225N	ENSP00000294649:I225N	I	+	2	0	NTNG1	107668854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.323000	0.78572	0.533000	0.62120	ATC	NTNG1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000162631		0.413	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	77	0.00	0	T	NM_014917		107867331	107867331	+1	no_errors	ENST00000370068	ensembl	human	known	69_37n	missense	57	16.18	11	SNP	1.000	A
OR52B2	255725	genome.wustl.edu	37	11	6190729	6190729	+	Silent	SNP	G	G	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr11:6190729G>T	ENST00000530810.1	-	1	909	c.828C>A	c.(826-828)atC>atA	p.I276I	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCAGCAAGATATGGACAT	0.463																																					NSCLC(5;186 261 1778 7098 14207)	dbGAP											0													100.0	95.0	97.0					11																	6190729		1961	4150	6111	-	-	-	SO:0001819	synonymous_variant	0			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.828C>A	11.37:g.6190729G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NGM7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I276	ENST00000530810.1	37	c.828	CCDS53598.1	11																																																																																			OR52B2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255307		0.463	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B2	HGNC	protein_coding	OTTHUMT00000385977.1	61	0.00	0	G	NM_001004052		6190729	6190729	-1	no_errors	ENST00000530810	ensembl	human	known	69_37n	silent	35	10.26	4	SNP	0.000	T
OR4C46	119749	genome.wustl.edu	37	11	51515936	51515936	+	Missense_Mutation	SNP	A	A	T	rs371690134		TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr11:51515936A>T	ENST00000328188.1	+	1	655	c.655A>T	c.(655-657)Atc>Ttc	p.I219F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTATGTGGTCATCTTGTGCTC	0.512													.|||	1	0.000199681	0.0	0.0	5008	,	,		20202	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													119.0	101.0	107.0					11																	51515936		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.655A>T	11.37:g.51515936A>T	ENSP00000329056:p.Ile219Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I219F	ENST00000328188.1	37	c.655	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	9.891	1.204230	0.22205	.	.	ENSG00000185926	ENST00000328188	T	0.00414	7.52	2.33	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000302	T	0.01558	0.0050	H	0.95328	3.655	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.16305	-1.0407	10	0.87932	D	0	.	8.2948	0.31980	1.0:0.0:0.0:0.0	.	219	A6NHA9	O4C46_HUMAN	F	219	ENSP00000329056:I219F	ENSP00000329056:I219F	I	+	1	0	OR4C46	51372512	0.827000	0.29292	0.616000	0.29078	0.046000	0.14306	3.336000	0.52113	1.105000	0.41606	0.102000	0.15555	ATC	OR4C46	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000185926		0.512	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	126	0.00	0	A	NM_001004703		51515936	51515936	+1	no_errors	ENST00000328188	ensembl	human	known	69_37n	missense	97	14.91	17	SNP	0.162	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	62	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	G
PTCD1	26024	genome.wustl.edu	37	7	99022771	99022771	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr7:99022771C>G	ENST00000292478.4	-	6	1634	c.1384G>C	c.(1384-1386)Gct>Cct	p.A462P	PTCD1_ENST00000555673.1_Missense_Mutation_p.A511P|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A511P	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	462					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCGGTCAGCTGGGGTGGTC	0.652																																						dbGAP											0													35.0	40.0	38.0					7																	99022771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1384G>C	7.37:g.99022771C>G	ENSP00000292478:p.Ala462Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.A511P	ENST00000292478.4	37	c.1531	CCDS34691.1	7	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845120	0.32606	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.66460	-0.21;-0.2;-0.2	5.72	3.91	0.45181	.	0.267345	0.43110	D	0.000605	T	0.73016	0.3533	M	0.76838	2.35	0.19575	N	0.999965	D;D	0.57899	0.98;0.981	P;P	0.53649	0.731;0.544	T	0.64326	-0.6434	10	0.36615	T	0.2	-2.3803	9.2374	0.37475	0.4054:0.5258:0.0:0.0688	.	511;462	G3V325;O75127	.;PTCD1_HUMAN	P	462;244;511;511	ENSP00000292478:A462P;ENSP00000450995:A511P;ENSP00000400168:A511P	ENSP00000400168:A511P	A	-	1	0	ATP5J2-PTCD1;PTCD1	98860707	0.972000	0.33761	0.005000	0.12908	0.158000	0.22134	2.435000	0.44811	0.755000	0.32990	0.561000	0.74099	GCT	PTCD1	-	NULL	ENSG00000106246		0.652	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	43	0.00	0	C	NM_015545		99022771	99022771	-1	no_errors	ENST00000555673	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	0.181	G
PTPRA	5786	genome.wustl.edu	37	20	3007821	3007821	+	Missense_Mutation	SNP	A	A	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr20:3007821A>T	ENST00000216877.6	+	18	2136	c.1736A>T	c.(1735-1737)tAt>tTt	p.Y579F	PTPRA_ENST00000318266.5_Missense_Mutation_p.Y579F|PTPRA_ENST00000358719.4_Missense_Mutation_p.Y444F|PTPRA_ENST00000380393.3_Missense_Mutation_p.Y588F|PTPRA_ENST00000425918.2_Missense_Mutation_p.Y599F|PTPRA_ENST00000356147.3_Missense_Mutation_p.Y579F|PTPRA_ENST00000399903.2_Missense_Mutation_p.Y588F	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	588	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATACAGACTATGTGAACGCA	0.488																																						dbGAP											0													236.0	206.0	216.0					20																	3007821		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1736A>T	20.37:g.3007821A>T	ENSP00000216877:p.Tyr579Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Y599F	ENST00000216877.6	37	c.1796	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	A	31	5.090498	0.94149	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.09	5.09	0.68999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	U	0.000000	T	0.71117	0.3302	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.995;0.999	T	0.81236	-0.1024	10	0.87932	D	0	.	15.1569	0.72749	1.0:0.0:0.0:0.0	.	599;588;579	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	F	588;579;588;444;198;599;579;579	ENSP00000369756:Y588F;ENSP00000216877:Y579F;ENSP00000382787:Y588F;ENSP00000351559:Y444F;ENSP00000393553:Y599F;ENSP00000314568:Y579F;ENSP00000348468:Y579F	ENSP00000216877:Y579F	Y	+	2	0	PTPRA	2955821	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.287000	0.95975	2.057000	0.61298	0.459000	0.35465	TAT	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.488	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	121	0.00	0	A			3007821	3007821	+1	no_errors	ENST00000425918	ensembl	human	known	69_37n	missense	122	10.29	14	SNP	1.000	T
RNF31	55072	genome.wustl.edu	37	14	24617078	24617078	+	Silent	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr14:24617078C>T	ENST00000324103.6	+	1	491	c.171C>T	c.(169-171)gtC>gtT	p.V57V	RNF31_ENST00000557878.1_Intron|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_Intron|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000471700.2_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	57	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CACGCCTTGTCCGCTGCAACG	0.692																																						dbGAP											0													22.0	25.0	24.0					14																	24617078		2008	4174	6182	-	-	-	SO:0001819	synonymous_variant	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.171C>T	14.37:g.24617078C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Silent	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.V57	ENST00000324103.6	37	c.171	CCDS41931.1	14																																																																																			RNF31	-	NULL	ENSG00000092098		0.692	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	32	0.00	0	C	NM_017999		24617078	24617078	+1	no_errors	ENST00000324103	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	0.998	T
SALL1	6299	genome.wustl.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129|rs372299573	byFrequency	TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	dbGAP											1	Substitution - Missense(1)	prostate(1)																																								-	-	-	SO:0001651	inframe_deletion	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S159in_frame_del	ENST00000251020.4	37	c.477_475	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	43	0.00	0	GCT	NM_002968		51175656	51175658	-1	no_errors	ENST00000251020	ensembl	human	known	69_37n	in_frame_del	57	29.63	24	DEL	0.007:0.009:0.009	-
SLC46A1	113235	genome.wustl.edu	37	17	26729308	26729308	+	Silent	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr17:26729308G>A	ENST00000440501.1	-	3	1208	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000321666.5_Intron	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	371					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	TGACAGGTGTGATGACTAATG	0.537																																						dbGAP											0													67.0	67.0	67.0					17																	26729308		1947	4157	6104	-	-	-	SO:0001819	synonymous_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1113C>T	17.37:g.26729308G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I371	ENST00000440501.1	37	c.1113		17																																																																																			SLC46A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000076351		0.537	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		84	0.00	0	G	NM_080669		26729308	26729308	-1	no_errors	ENST00000440501	ensembl	human	known	69_37n	silent	44	38.03	27	SNP	0.000	A
STAB1	23166	genome.wustl.edu	37	3	52540798	52540798	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr3:52540798C>G	ENST00000321725.6	+	18	1997	c.1921C>G	c.(1921-1923)Ctg>Gtg	p.L641V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	641	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGACGGCATCCTGCTGCCCCC	0.672																																						dbGAP											0													67.0	60.0	62.0					3																	52540798		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1921C>G	3.37:g.52540798C>G	ENSP00000312946:p.Leu641Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.L641V	ENST00000321725.6	37	c.1921	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590723	0.66219	.	.	ENSG00000010327	ENST00000321725	D	0.96522	-4.04	4.96	2.79	0.32731	FAS1 domain (5);	0.098253	0.41194	D	0.000923	D	0.97353	0.9134	M	0.83483	2.645	0.38874	D	0.956761	D;D	0.69078	0.997;0.986	D;P	0.68353	0.957;0.84	D	0.97022	0.9744	10	0.72032	D	0.01	.	7.2157	0.25959	0.0:0.712:0.0:0.288	.	641;641	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	641	ENSP00000312946:L641V	ENSP00000312946:L641V	L	+	1	2	STAB1	52515838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.860000	0.27871	1.080000	0.41073	0.462000	0.41574	CTG	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000010327		0.672	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	31	0.00	0	C	NM_015136		52540798	52540798	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.971	G
SYN1	6853	genome.wustl.edu	37	X	47436041	47436041	+	Splice_Site	SNP	T	T	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chrX:47436041T>A	ENST00000295987.7	-	7	962		c.e7-2		SYN1_ENST00000340666.4_Splice_Site	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I						neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						AACCTTGACCTGTGGAAGTGC	0.577																																						dbGAP											0													94.0	63.0	74.0					X																	47436041		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.838-2A>T	X.37:g.47436041T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJQ1|O75825|Q5H9A9	Splice_Site	SNP	-	e7-2	ENST00000295987.7	37	c.838-2	CCDS14280.1	X	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899567	0.33535	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.117	0.42596	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYN1	47320985	1.000000	0.71417	0.914000	0.36105	0.217000	0.24651	7.362000	0.79507	1.504000	0.48704	0.427000	0.28365	.	SYN1	-	-	ENSG00000008056		0.577	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	75	0.00	0	T	NM_006950	Intron	47436041	47436041	-1	no_errors	ENST00000295987	ensembl	human	known	69_37n	splice_site	37	33.93	19	SNP	0.998	A
TNFRSF19	55504	genome.wustl.edu	37	13	24242897	24242897	+	Silent	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr13:24242897C>T	ENST00000382258.4	+	9	1110	c.906C>T	c.(904-906)ggC>ggT	p.G302G	TNFRSF19_ENST00000248484.4_Silent_p.G302G|TNFRSF19_ENST00000382263.3_Silent_p.G302G|TNFRSF19_ENST00000403372.2_Silent_p.G170G	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	302					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCATCTGTGGCGAGTTTTCAG	0.493																																						dbGAP											0													120.0	116.0	118.0					13																	24242897		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.906C>T	13.37:g.24242897C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.G302	ENST00000382258.4	37	c.906	CCDS9302.1	13																																																																																			TNFRSF19	-	NULL	ENSG00000127863		0.493	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	54	0.00	0	C	NM_018647		24242897	24242897	+1	no_errors	ENST00000382258	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	0.522	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	36	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	1.000	T
TPM3	7170	genome.wustl.edu	37	1	154144514	154144514	+	Intron	SNP	A	A	C			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr1:154144514A>C	ENST00000368530.2	-	6	759				TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Silent_p.A211A|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Silent_p.A149A|TPM3_ENST00000328159.4_Silent_p.A174A|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000368531.2_Silent_p.A174A|TPM3_ENST00000368533.3_Silent_p.A174A|TPM3_ENST00000341485.5_Silent_p.A158A	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTTTTCTTCAGCAGCACTCA	0.468			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	dbGAP		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0													283.0	267.0	272.0					1																	154144514		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.567-550T>G	1.37:g.154144514A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	pfam_Tropomyosin,superfamily_HR1_rho-bd,prints_Tropomyosin	p.A174	ENST00000368530.2	37	c.522	CCDS41403.1	1																																																																																			TPM3	-	pfam_Tropomyosin	ENSG00000143549		0.468	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2	72	0.00	0	A	NM_152263		154144514	154144514	-1	no_errors	ENST00000368533	ensembl	human	known	69_37n	silent	71	16.47	14	SNP	1.000	C
UBA1	7317	genome.wustl.edu	37	X	47061598	47061598	+	Silent	SNP	C	C	T			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chrX:47061598C>T	ENST00000335972.6	+	9	1038	c.855C>T	c.(853-855)gaC>gaT	p.D285D	INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Silent_p.D285D	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	285	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTTCTCCGACTACATCCGTG	0.507																																						dbGAP											0													119.0	82.0	95.0					X																	47061598		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.855C>T	X.37:g.47061598C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.D285	ENST00000335972.6	37	c.855	CCDS14275.1	X																																																																																			UBA1	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.507	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	87	0.00	0	C	NM_003334		47061598	47061598	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	silent	69	12.66	10	SNP	1.000	T
UGGT1	56886	genome.wustl.edu	37	2	128896328	128896328	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr2:128896328G>A	ENST00000259253.6	+	16	1668	c.1621G>A	c.(1621-1623)Gtt>Att	p.V541I	UGGT1_ENST00000375990.3_Missense_Mutation_p.V517I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	541					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCTGAAGATGTTGATGGGAT	0.378																																						dbGAP											0													162.0	155.0	158.0					2																	128896328		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1621G>A	2.37:g.128896328G>A	ENSP00000259253:p.Val541Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.V541I	ENST00000259253.6	37	c.1621	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833663	0.32421	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.35236	1.32;1.32	5.1	3.31	0.37934	.	0.260575	0.39341	N	0.001386	T	0.25717	0.0626	L	0.35288	1.05	0.43347	D	0.995406	B;B	0.09022	0.002;0.002	B;B	0.15870	0.014;0.002	T	0.04607	-1.0939	10	0.23302	T	0.38	.	10.6582	0.45688	0.215:0.0:0.785:0.0	.	517;541	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	I	517;541	ENSP00000365158:V517I;ENSP00000259253:V541I	ENSP00000259253:V541I	V	+	1	0	UGGT1	128612798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.792000	0.38754	0.667000	0.31107	0.650000	0.86243	GTT	UGGT1	-	NULL	ENSG00000136731		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	147	0.00	0	G	NM_020120		128896328	128896328	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	122	11.59	16	SNP	1.000	A
VWDE	221806	genome.wustl.edu	37	7	12412764	12412764	+	Missense_Mutation	SNP	A	A	G			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr7:12412764A>G	ENST00000275358.3	-	10	1614	c.1426T>C	c.(1426-1428)Tca>Cca	p.S476P		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	476	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CAATTACATGACACTGGATAG	0.393																																						dbGAP											0													128.0	103.0	111.0					7																	12412764		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.1426T>C	7.37:g.12412764A>G	ENSP00000275358:p.Ser476Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.S476P	ENST00000275358.3	37	c.1426	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169544	0.57584	.	.	ENSG00000146530	ENST00000275358	T	0.60672	0.17	4.39	4.39	0.52855	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.76807	0.4039	M	0.82323	2.585	0.31448	N	0.671098	D	0.89917	1.0	D	0.75020	0.985	T	0.80443	-0.1380	9	0.87932	D	0	.	13.7425	0.62855	1.0:0.0:0.0:0.0	.	476	Q8N2E2	VWDE_HUMAN	P	476	ENSP00000275358:S476P	ENSP00000275358:S476P	S	-	1	0	VWDE	12379289	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	4.474000	0.60203	1.842000	0.53543	0.459000	0.35465	TCA	VWDE	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000146530		0.393	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	87	0.00	0	A	XM_371878		12412764	12412764	-1	no_errors	ENST00000452576	ensembl	human	known	69_37n	missense	88	15.38	16	SNP	1.000	G
WDR61	80349	genome.wustl.edu	37	15	78580711	78580711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr15:78580711delG	ENST00000267973.2	-	8	847	c.576delC	c.(574-576)cccfs	p.P192fs	WDR61_ENST00000558459.1_Frame_Shift_Del_p.P99fs|WDR61_ENST00000558311.1_Frame_Shift_Del_p.P192fs|WDR61_ENST00000559332.1_5'Flank			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	192					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						AGGAGCGAATGGGCATGGCAT	0.468																																						dbGAP											0													161.0	124.0	136.0					15																	78580711		2196	4293	6489	-	-	-	SO:0001589	frameshift_variant	0				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.576delC	15.37:g.78580711delG	ENSP00000267973:p.Pro192fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW84|Q6IA22|Q7Z4X4	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I193fs	ENST00000267973.2	37	c.576	CCDS10300.1	15																																																																																			WDR61	-	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140395		0.468	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR61	HGNC	protein_coding	OTTHUMT00000289803.3	97	0.00	0	G	NM_025234		78580711	78580711	-1	no_errors	ENST00000267973	ensembl	human	known	69_37n	frame_shift_del	98	16.10	19	DEL	1.000	-
ZADH2	284273	genome.wustl.edu	37	18	72913658	72913658	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DD-01A-11D-A17W-09	TCGA-GM-A2DD-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	42a8b6bb-6b28-4663-8b48-2928fa8c71c2	f86d9ca8-d705-4041-bdde-f7e3014f8ae3	g.chr18:72913658G>A	ENST00000322342.3	-	2	1136	c.847C>T	c.(847-849)Cct>Tct	p.P283S	ZADH2_ENST00000537114.2_Missense_Mutation_p.P160S	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	283						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GCTTTCACAGGCGAAAGGCCA	0.498																																						dbGAP											0													91.0	82.0	85.0					18																	72913658		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.847C>T	18.37:g.72913658G>A	ENSP00000323678:p.Pro283Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA15|B4DZ91	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.P283S	ENST00000322342.3	37	c.847	CCDS12008.1	18	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282349	0.40394	.	.	ENSG00000180011	ENST00000322342;ENST00000537114	T;T	0.03920	3.76;3.76	5.91	5.91	0.95273	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.069982	0.56097	D	0.000024	T	0.08626	0.0214	L	0.61387	1.9	0.20703	N	0.999865	B	0.23591	0.088	B	0.23150	0.044	T	0.32877	-0.9890	10	0.52906	T	0.07	-20.9296	12.793	0.57545	0.0746:0.0:0.9254:0.0	.	283	Q8N4Q0	ZADH2_HUMAN	S	283;160	ENSP00000323678:P283S;ENSP00000440111:P160S	ENSP00000323678:P283S	P	-	1	0	ZADH2	71042646	1.000000	0.71417	0.013000	0.15412	0.989000	0.77384	3.639000	0.54339	-1.104000	0.03015	0.644000	0.83932	CCT	ZADH2	-	pfam_ADH_C,smart_PKS_ER	ENSG00000180011		0.498	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZADH2	HGNC	protein_coding	OTTHUMT00000256332.1	57	0.00	0	G	NM_175907		72913658	72913658	-1	no_errors	ENST00000322342	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	0.088	A
