#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
ABCB7	22	genome.wustl.edu	37	X	74376106	74376106	+	Start_Codon_SNP	SNP	A	A	G			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chrX:74376106A>G	ENST00000373394.3	-	1	9	c.2T>C	c.(1-3)aTg>aCg	p.M1T	ABCB7_ENST00000339447.4_Start_Codon_SNP_p.M1T|ABCB7_ENST00000253577.3_Start_Codon_SNP_p.M1T			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	1					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGCAGCGCCATCTTGAGCGA	0.567											OREG0019879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													8.0	8.0	8.0					X																	74376106		2191	4262	6453	-	-	-	SO:0001582	initiator_codon_variant	0			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.2T>C	X.37:g.74376106A>G	ENSP00000362492:p.Met1Thr	Somatic	1152	WXS	Illumina GAIIx	Phase_IV	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.M1T	ENST00000373394.3	37	c.2		X	.	.	.	.	.	.	.	.	.	.	A	15.58	2.877047	0.51801	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D;T	0.91351	-2.3;-2.52;-2.3;-2.83;1.28	4.81	4.81	0.61882	.	0.442343	0.22976	N	0.053373	D	0.92596	0.7648	.	.	.	0.20926	N	0.999828	P;P;P;P;P	0.43662	0.814;0.814;0.717;0.717;0.814	P;P;P;P;P	0.55345	0.774;0.774;0.599;0.599;0.774	D	0.86888	0.2046	9	0.87932	D	0	-9.1168	9.6591	0.39943	1.0:0.0:0.0:0.0	.	1;1;1;1;1	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	T	1;1;1;1;1;1;13	ENSP00000253577:M1T;ENSP00000343849:M1T;ENSP00000362492:M1T;ENSP00000436586:M1T;ENSP00000435521:M1T	ENSP00000253577:M1T	M	-	2	0	ABCB7	74292831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.311000	0.43717	1.882000	0.54519	0.417000	0.27973	ATG	ABCB7	-	NULL	ENSG00000131269		0.567	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	10	0.00	0	A	NM_004299	Missense_Mutation	74376106	74376106	-1	no_errors	ENST00000253577	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	G
ANKRA2	57763	genome.wustl.edu	37	5	72858604	72858604	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr5:72858604G>A	ENST00000296785.3	-	2	761	c.103C>T	c.(103-105)Cca>Tca	p.P35S	UTP15_ENST00000543251.1_5'Flank|UTP15_ENST00000508491.1_5'Flank|UTP15_ENST00000296792.4_5'Flank	NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	35						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GGGTCCAGTGGATGTTCTATT	0.433																																						dbGAP											0													194.0	188.0	190.0					5																	72858604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.103C>T	5.37:g.72858604G>A	ENSP00000296785:p.Pro35Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P35S	ENST00000296785.3	37	c.103	CCDS4020.1	5	.	.	.	.	.	.	.	.	.	.	G	9.995	1.231832	0.22626	.	.	ENSG00000164331	ENST00000296785;ENST00000504641	T;T	0.46063	1.32;0.88	5.09	5.09	0.68999	.	0.544994	0.21189	N	0.078662	T	0.26846	0.0657	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11036	-1.0604	10	0.06494	T	0.89	-2.0573	14.1711	0.65510	0.0:0.1497:0.8503:0.0	.	35;35	D6RBK8;Q9H9E1	.;ANRA2_HUMAN	S	35	ENSP00000296785:P35S;ENSP00000422643:P35S	ENSP00000296785:P35S	P	-	1	0	ANKRA2	72894360	0.994000	0.37717	0.151000	0.22473	0.997000	0.91878	3.556000	0.53734	2.354000	0.79902	0.655000	0.94253	CCA	ANKRA2	-	NULL	ENSG00000164331		0.433	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRA2	HGNC	protein_coding	OTTHUMT00000219814.2	83	0.00	0	G	NM_023039		72858604	72858604	-1	no_errors	ENST00000296785	ensembl	human	known	69_37n	missense	54	12.70	8	SNP	0.085	A
ANO6	196527	genome.wustl.edu	37	12	45781974	45781974	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr12:45781974G>A	ENST00000320560.8	+	11	1398	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	ANO6_ENST00000435642.1_Missense_Mutation_p.R399H|ANO6_ENST00000423947.3_Missense_Mutation_p.R420H|ANO6_ENST00000425752.2_Missense_Mutation_p.R399H|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.R381H	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	399					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGAAGCGACGCCAGGCAGAA	0.418																																						dbGAP											0													196.0	179.0	185.0					12																	45781974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1196G>A	12.37:g.45781974G>A	ENSP00000320087:p.Arg399His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.R399H	ENST00000320560.8	37	c.1196	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420984	0.83559	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.6	4.6	0.57074	.	0.128596	0.53938	D	0.000052	T	0.81138	0.4760	M	0.70787	2.145	0.45046	D	0.998065	D;D;D;D	0.89917	1.0;0.989;0.994;0.98	D;P;P;P	0.78314	0.991;0.871;0.907;0.458	T	0.82408	-0.0472	10	0.52906	T	0.07	.	18.3444	0.90317	0.0:0.0:1.0:0.0	.	381;420;399;399	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	H	399;420;399;399;381	ENSP00000391417:R399H;ENSP00000409126:R420H;ENSP00000413840:R399H;ENSP00000320087:R399H;ENSP00000413137:R381H	ENSP00000320087:R399H	R	+	2	0	ANO6	44068241	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.062000	0.71155	2.490000	0.84030	0.655000	0.94253	CGC	ANO6	-	pfam_Anoctamin	ENSG00000177119		0.418	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	75	0.00	0	G	XM_113743		45781974	45781974	+1	no_errors	ENST00000425752	ensembl	human	known	69_37n	missense	65	15.38	12	SNP	1.000	A
APCDD1L	164284	genome.wustl.edu	37	20	57036021	57036021	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr20:57036021C>T	ENST00000371149.3	-	4	1561	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	APCDD1L_ENST00000439429.1_Missense_Mutation_p.R455H|APCDD1L_ENST00000491015.1_5'Flank	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	444						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGAGGTGGGACGTTTCTCTGG	0.612																																						dbGAP											0													99.0	94.0	96.0					20																	57036021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1331G>A	20.37:g.57036021C>T	ENSP00000360191:p.Arg444His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R455H	ENST00000371149.3	37	c.1364	CCDS13467.1	20	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763263	0.69763	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.21932	1.98;1.98	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	M	0.88640	2.97	0.43555	D	0.995868	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66316	-0.5954	10	0.87932	D	0	.	16.6346	0.85043	0.0:1.0:0.0:0.0	.	455;444	F5H6V6;Q8NCL9	.;APCDL_HUMAN	H	444;455	ENSP00000360191:R444H;ENSP00000413261:R455H	ENSP00000360191:R444H	R	-	2	0	APCDD1L	56469427	1.000000	0.71417	0.724000	0.30704	0.355000	0.29361	5.339000	0.65953	1.931000	0.55961	0.467000	0.42956	CGT	APCDD1L	-	NULL	ENSG00000198768		0.612	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APCDD1L	HGNC	protein_coding	OTTHUMT00000079881.2	48	0.00	0	C	NM_153360		57036021	57036021	-1	no_errors	ENST00000439429	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.994	T
ARID5B	84159	genome.wustl.edu	37	10	63851397	63851397	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr10:63851397G>C	ENST00000279873.7	+	10	2585	c.2175G>C	c.(2173-2175)agG>agC	p.R725S	ARID5B_ENST00000309334.5_Missense_Mutation_p.R482S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	725					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGATTGCTAGGGATGACTTGT	0.527																																						dbGAP											0													120.0	119.0	120.0					10																	63851397		2203	4300	6503	-	-	-	SO:0001583	missense	0			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2175G>C	10.37:g.63851397G>C	ENSP00000279873:p.Arg725Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R725S	ENST00000279873.7	37	c.2175	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185025	0.38609	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.48522	0.83;0.81	5.87	4.87	0.63330	.	0.348813	0.35407	N	0.003240	T	0.38639	0.1048	L	0.57536	1.79	0.47153	D	0.999335	B	0.34015	0.435	B	0.27262	0.078	T	0.43426	-0.9392	10	0.72032	D	0.01	-22.096	6.8355	0.23933	0.2388:0.0:0.7612:0.0	.	725	Q14865	ARI5B_HUMAN	S	725;482	ENSP00000279873:R725S;ENSP00000308862:R482S	ENSP00000279873:R725S	R	+	3	2	ARID5B	63521403	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.663000	0.46774	2.779000	0.95612	0.655000	0.94253	AGG	ARID5B	-	NULL	ENSG00000150347		0.527	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	49	0.00	0	G	XM_084482		63851397	63851397	+1	no_errors	ENST00000279873	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	0.998	C
BMP8A	353500	genome.wustl.edu	37	1	39988145	39988145	+	Silent	SNP	T	T	C	rs6524	byFrequency	TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr1:39988145T>C	ENST00000331593.5	+	5	1285	c.939T>C	c.(937-939)ctT>ctC	p.L313L	RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	313					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCAGGACCTTGGCTGGCTGG	0.552																																						dbGAP											0													91.0	83.0	86.0					1																	39988145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.939T>C	1.37:g.39988145T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3A5	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.L313	ENST00000331593.5	37	c.939	CCDS437.1	1																																																																																			BMP8A	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	ENSG00000183682		0.552	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP8A	HGNC	protein_coding	OTTHUMT00000023079.1	50	0.00	0	T	NM_181809		39988145	39988145	+1	no_errors	ENST00000331593	ensembl	human	known	69_37n	silent	16	11.11	2	SNP	0.010	C
MROH8	140699	genome.wustl.edu	37	20	35731179	35731179	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr20:35731179G>C	ENST00000400441.3	-	24	3039	c.3040C>G	c.(3040-3042)Ctg>Gtg	p.L1014V	MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.L843V			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	ACTAGTAACAGAGTCTGGGAA	0.547																																						dbGAP											0													194.0	189.0	191.0					20																	35731179		2023	4184	6207	-	-	-	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.3040C>G	20.37:g.35731179G>C	ENSP00000383291:p.Leu1014Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1014V	ENST00000400441.3	37	c.3040		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.14|13.14	2.149354|2.149354	0.37923|0.37923	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000400441;ENST00000217333|ENST00000417458	T;T|.	0.75821|.	0.68;-0.97|.	5.51|5.51	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.51477|.	D|.	0.000090|.	T|T	0.52075|0.52075	0.1712|0.1712	L|L	0.47716|0.47716	1.5|1.5	0.32552|0.32552	N|N	0.532247|0.532247	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.80764|.	0.991;0.994|.	T|T	0.60811|0.60811	-0.7189|-0.7189	10|5	0.59425|.	D|.	0.04|.	-2.3145|-2.3145	10.1649|10.1649	0.42875|0.42875	0.0927:0.0:0.9073:0.0|0.0927:0.0:0.9073:0.0	.|.	1014;848|.	E7ETR9;Q9H579-2|.	.;.|.	V|C	1014;843|641	ENSP00000383291:L1014V;ENSP00000217333:L843V|.	ENSP00000217333:L843V|.	L|S	-|-	1|2	2|0	C20orf132|C20orf132	35164593|35164593	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.032000|0.032000	0.12392|0.12392	1.385000|1.385000	0.34408|0.34408	1.306000|1.306000	0.44926|0.44926	0.505000|0.505000	0.49811|0.49811	CTG|TCT	C20orf132	-	superfamily_ARM-type_fold	ENSG00000101353		0.547	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		84	0.00	0	G	NM_152503		35731179	35731179	-1	no_errors	ENST00000400441	ensembl	human	known	69_37n	missense	35	57.83	48	SNP	0.996	C
CCNB3	85417	genome.wustl.edu	37	X	50031866	50031866	+	Silent	SNP	A	A	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chrX:50031866A>C	ENST00000376042.1	+	4	481	c.183A>C	c.(181-183)tcA>tcC	p.S61S	CCNB3_ENST00000376038.1_Silent_p.S61S|CCNB3_ENST00000348603.2_Silent_p.S61S|CCNB3_ENST00000276014.7_Silent_p.S61S			Q8WWL7	CCNB3_HUMAN	cyclin B3	61					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAAGAGATCAGCTTTTGAAG	0.413																																						dbGAP											0													79.0	70.0	73.0					X																	50031866		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.183A>C	X.37:g.50031866A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.S61	ENST00000376042.1	37	c.183	CCDS14331.1	X																																																																																			CCNB3	-	NULL	ENSG00000147082		0.413	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	69	0.00	0	A			50031866	50031866	+1	no_errors	ENST00000276014	ensembl	human	known	69_37n	silent	62	20.51	16	SNP	0.998	C
CELA3B	23436	genome.wustl.edu	37	1	22304922	22304922	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr1:22304922C>T	ENST00000337107.6	+	2	123	c.104C>T	c.(103-105)gCg>gTg	p.A35V	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	35	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGTGAGGATGCGGTCCCCTAC	0.627																																						dbGAP											0													148.0	94.0	112.0					1																	22304922		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.104C>T	1.37:g.22304922C>T	ENSP00000338369:p.Ala35Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A35V	ENST00000337107.6	37	c.104	CCDS219.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294277	0.81025	.	.	ENSG00000219073	ENST00000337107;ENST00000374666	T;T	0.20463	2.07;2.07	5.1	5.1	0.69264	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	T	0.42765	0.1217	M	0.72353	2.195	0.49483	D	0.999791	D;P	0.67145	0.996;0.95	P;B	0.62435	0.902;0.187	T	0.21075	-1.0256	10	0.38643	T	0.18	-25.4813	16.0019	0.80301	0.0:1.0:0.0:0.0	.	35;35	B1AQ52;P08861	.;CEL3B_HUMAN	V	35;51	ENSP00000338369:A35V;ENSP00000363798:A51V	ENSP00000338369:A35V	A	+	2	0	CELA3B	22177509	0.963000	0.33076	0.239000	0.24122	0.916000	0.54674	2.247000	0.43151	2.375000	0.81037	0.650000	0.86243	GCG	CELA3B	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000219073		0.627	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3B	HGNC	protein_coding	OTTHUMT00000007797.1	143	0.00	0	C	NM_007352		22304922	22304922	+1	no_errors	ENST00000337107	ensembl	human	known	69_37n	missense	29	55.38	36	SNP	0.979	T
CLCN5	1184	genome.wustl.edu	37	X	49845354	49845354	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chrX:49845354G>A	ENST00000307367.2	+	5	788	c.497G>A	c.(496-498)tGt>tAt	p.C166Y	CLCN5_ENST00000376091.3_Missense_Mutation_p.C236Y|CLCN5_ENST00000376088.3_Missense_Mutation_p.C236Y|CLCN5_ENST00000376108.3_Missense_Mutation_p.C166Y			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	166					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCTTATGCCTGTGGCTCTGGA	0.403																																						dbGAP											0													180.0	140.0	153.0					X																	49845354		2203	4300	6503	-	-	-	SO:0001583	missense	0			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.497G>A	X.37:g.49845354G>A	ENSP00000304257:p.Cys166Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.C236Y	ENST00000307367.2	37	c.707	CCDS14328.1	X	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357729	0.82243	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.45	5.45	0.79879	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	M	0.72624	2.21	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.80764	0.934;0.994	D	0.96824	0.9606	10	0.87932	D	0	-2.8297	16.9775	0.86317	0.0:0.0:1.0:0.0	.	166;236	P51795;P51795-2	CLCN5_HUMAN;.	Y	236;68;236;166;166	ENSP00000365256:C236Y;ENSP00000365259:C236Y;ENSP00000365276:C166Y;ENSP00000304257:C166Y	ENSP00000304257:C166Y	C	+	2	0	CLCN5	49732094	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.705000	0.98719	2.270000	0.75569	0.594000	0.82650	TGT	CLCN5	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000171365		0.403	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	129	0.00	0	G			49845354	49845354	+1	no_errors	ENST00000376088	ensembl	human	known	69_37n	missense	79	15.96	15	SNP	1.000	A
CLU	1191	genome.wustl.edu	37	8	27461880	27461880	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr8:27461880T>C	ENST00000316403.10	-	6	1267	c.862A>G	c.(862-864)Atc>Gtc	p.I288V	CLU_ENST00000546343.1_Missense_Mutation_p.I299V|CLU_ENST00000523500.1_Missense_Mutation_p.I288V|CLU_ENST00000405140.3_Missense_Mutation_p.I288V|CLU_ENST00000560366.1_Missense_Mutation_p.I340V			P10909	CLUS_HUMAN	clusterin	288					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TTGTGGCGGATCTCCCGGCAC	0.592																																						dbGAP											0													91.0	76.0	81.0					8																	27461880		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.862A>G	8.37:g.27461880T>C	ENSP00000315130:p.Ile288Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.I340V	ENST00000316403.10	37	c.1018	CCDS47832.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.1|23.1	4.380128|4.380128	0.82682|0.82682	.|.	.|.	ENSG00000120885|ENSG00000120885	ENST00000522098|ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000523589	.|T;T;T;T	.|0.25414	.|1.8;1.8;1.8;1.8	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Clusterin, C-terminal (1);	.|0.126553	.|0.64402	.|D	.|0.000011	T|T	0.43166|0.43166	0.1235|0.1235	M|M	0.83012|0.83012	2.62|2.62	0.51767|0.51767	D|D	0.999935|0.999935	.|D;P;P;P	.|0.55172	.|0.97;0.952;0.952;0.835	.|P;P;P;P	.|0.52343	.|0.696;0.488;0.488;0.524	T|T	0.49428|0.49428	-0.8941|-0.8941	5|10	.|0.72032	.|D	.|0.01	-35.2825|-35.2825	9.5178|9.5178	0.39115|0.39115	0.1571:0.0:0.0:0.8429|0.1571:0.0:0.0:0.8429	.|.	.|153;340;299;288	.|E7ETA7;P10909-2;P10909-5;P10909	.|.;.;.;CLUS_HUMAN	G|V	150|340;299;288;288;113;153;254	.|ENSP00000446413:I299V;ENSP00000385419:I288V;ENSP00000429620:I288V;ENSP00000431070:I254V	.|ENSP00000315130:I340V	D|I	-|-	2|1	0|0	CLU|CLU	27517797|27517797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	6.906000|6.906000	0.75719|0.75719	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	GAT|ATC	CLU	-	pfam_Clusterin-like,smart_Clusterin_C	ENSG00000120885		0.592	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLU	HGNC	protein_coding	OTTHUMT00000219953.3	56	0.00	0	T	NM_001831		27461880	27461880	-1	no_errors	ENST00000560366	ensembl	human	known	69_37n	missense	16	64.44	29	SNP	1.000	C
COL6A3	1293	genome.wustl.edu	37	2	238253585	238253585	+	Splice_Site	SNP	G	G	A	rs114248590	byFrequency	TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr2:238253585G>A	ENST00000295550.4	-	35	7625	c.7173C>T	c.(7171-7173)taC>taT	p.Y2391Y	COL6A3_ENST00000472056.1_Splice_Site_p.Y1784Y|COL6A3_ENST00000409809.1_Splice_Site_p.Y2185Y|COL6A3_ENST00000347401.3_Splice_Site_p.Y2190Y|COL6A3_ENST00000353578.4_Splice_Site_p.Y2185Y|COL6A3_ENST00000346358.4_Splice_Site_p.Y2191Y	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2391	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Y2391Y(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAACTTACCGTAACAGCAAG	0.408													A|||	3	0.000599042	0.0008	0.0	5008	,	,		20521	0.001		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											111.0	109.0	110.0					2																	238253585		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7174+1C>T	2.37:g.238253585G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Y2391	ENST00000295550.4	37	c.7173	CCDS33412.1	2																																																																																			COL6A3	-	NULL	ENSG00000163359		0.408	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	70	0.00	0	G	NM_004369	Silent	238253585	238253585	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	silent	58	15.94	11	SNP	0.286	A
COMMD7	149951	genome.wustl.edu	37	20	31294404	31294404	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr20:31294404G>A	ENST00000278980.6	-	5	922	c.317C>T	c.(316-318)gCc>gTc	p.A106V	COMMD7_ENST00000446419.2_Missense_Mutation_p.A105V	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	106					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						AAAGTAAGTGGCTTTCTCCTC	0.373																																						dbGAP											0													82.0	81.0	82.0					20																	31294404		1853	4098	5951	-	-	-	SO:0001583	missense	0			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.317C>T	20.37:g.31294404G>A	ENSP00000278980:p.Ala106Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	pfam_HCaRG	p.A106V	ENST00000278980.6	37	c.317	CCDS42864.1	20	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439291	0.63067	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.11063	2.81;2.81	5.44	5.44	0.79542	.	0.053822	0.85682	D	0.000000	T	0.33818	0.0876	M	0.79693	2.465	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	T	0.01998	-1.1232	10	0.23302	T	0.38	.	16.1016	0.81175	0.0:0.0:1.0:0.0	.	105;106	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	V	106;105	ENSP00000278980:A106V;ENSP00000395339:A105V	ENSP00000278980:A106V	A	-	2	0	COMMD7	30758065	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	4.913000	0.63341	2.814000	0.96858	0.655000	0.94253	GCC	COMMD7	-	pfam_HCaRG	ENSG00000149600		0.373	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COMMD7	HGNC	protein_coding	OTTHUMT00000078648.2	74	0.00	0	G	NM_053041		31294404	31294404	-1	no_errors	ENST00000278980	ensembl	human	known	69_37n	missense	40	45.21	33	SNP	1.000	A
CROCCP2	84809	genome.wustl.edu	37	1	16949330	16949331	+	lincRNA	INS	-	-	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr1:16949330_16949331insA	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ctactaaaaatacaaaattagc	0.54																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16949331_16949331dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	INS	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.540	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	9	0.00	0	-	NR_026752.1		16949330	16949331	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	10	28.57	4	INS	0.186:0.186	A
DENND5B	160518	genome.wustl.edu	37	12	31579329	31579329	+	Silent	SNP	T	T	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr12:31579329T>C	ENST00000389082.5	-	9	2400	c.2136A>G	c.(2134-2136)ggA>ggG	p.G712G	DENND5B_ENST00000536562.1_Silent_p.G747G|DENND5B_ENST00000306833.6_Silent_p.G747G	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	712					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCAGGTTTTTTCCTAAACTTC	0.343																																						dbGAP											0													90.0	83.0	85.0					12																	31579329		1827	4097	5924	-	-	-	SO:0001819	synonymous_variant	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2136A>G	12.37:g.31579329T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.G747	ENST00000389082.5	37	c.2241	CCDS44857.1	12																																																																																			DENND5B	-	NULL	ENSG00000170456		0.343	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	77	0.00	0	T	NM_144973		31579329	31579329	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	silent	47	25.40	16	SNP	0.740	C
DLC1	10395	genome.wustl.edu	37	8	12956964	12956964	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr8:12956964G>T	ENST00000276297.4	-	9	3291	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H	DLC1_ENST00000358919.2_Missense_Mutation_p.P524H|DLC1_ENST00000512044.2_Missense_Mutation_p.P558H|DLC1_ENST00000520226.1_Missense_Mutation_p.P450H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	961					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGTCGCTGGGTGTGGTTCG	0.587																																						dbGAP											0													98.0	94.0	95.0					8																	12956964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2882C>A	8.37:g.12956964G>T	ENSP00000276297:p.Pro961His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.P961H	ENST00000276297.4	37	c.2882	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516683	0.44763	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06294	3.56;3.33;3.32;3.33	5.57	4.7	0.59300	.	0.167526	0.56097	D	0.000035	T	0.20170	0.0485	M	0.73962	2.25	0.80722	D	1	P;D;D	0.71674	0.943;0.998;0.973	P;D;P	0.64687	0.525;0.928;0.724	T	0.00395	-1.1766	10	0.59425	D	0.04	.	9.2845	0.37749	0.2163:0.0:0.7837:0.0	.	961;558;524	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	H	961;524;558;450	ENSP00000276297:P961H;ENSP00000351797:P524H;ENSP00000422595:P558H;ENSP00000428028:P450H	ENSP00000276297:P961H	P	-	2	0	DLC1	13001335	1.000000	0.71417	0.996000	0.52242	0.714000	0.41099	2.236000	0.43052	1.501000	0.48654	0.655000	0.94253	CCC	DLC1	-	NULL	ENSG00000164741		0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	139	0.00	0	G	NM_182643, NM_006094		12956964	12956964	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	missense	96	42.17	70	SNP	0.996	T
DMPK	1760	genome.wustl.edu	37	19	46282601	46282601	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr19:46282601T>G	ENST00000291270.4	-	4	478	c.353A>C	c.(352-354)gAg>gCg	p.E118A	DMPK_ENST00000458663.2_Missense_Mutation_p.E118A|DMPK_ENST00000600757.1_Missense_Mutation_p.E128A|DMPK_ENST00000343373.4_Missense_Mutation_p.E128A|DMPK_ENST00000354227.5_Missense_Mutation_p.E118A|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000447742.2_Missense_Mutation_p.E118A	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GTCCCTCTCCTCACGGAAGCA	0.682																																					Esophageal Squamous(35;307 869 9153 24033 28903)	dbGAP											0													121.0	118.0	119.0					19																	46282601		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.353A>C	19.37:g.46282601T>G	ENSP00000291270:p.Glu118Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E128A	ENST00000291270.4	37	c.383	CCDS12674.1	19	.	.	.	.	.	.	.	.	.	.	t	32	5.107064	0.94292	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	4.55	4.55	0.56014	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43919	D	0.000506	T	0.42449	0.1203	N	0.16567	0.415	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.965;0.996;0.996;0.998;0.996;0.999;0.998;0.999	D;P;P;D;D;D;D;D;D	0.91635	0.999;0.833;0.902;0.91;0.957;0.926;0.966;0.964;0.975	T	0.46596	-0.9180	10	0.87932	D	0	.	11.875	0.52541	0.0:0.0:0.0:1.0	.	128;118;118;144;118;118;118;165;128	B7Z9B5;Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;.;DMPK_HUMAN;.;.	A	118;144;118;118;118;128;128;118	ENSP00000401753:E118A;ENSP00000291270:E118A;ENSP00000413417:E118A;ENSP00000345997:E128A;ENSP00000346168:E118A	ENSP00000291270:E118A	E	-	2	0	DMPK	50974441	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	5.850000	0.69473	1.915000	0.55452	0.459000	0.35465	GAG	DMPK	-	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	ENSG00000104936		0.682	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DMPK	HGNC	protein_coding	OTTHUMT00000460572.1	76	0.00	0	T	NM_004409		46282601	46282601	-1	no_errors	ENST00000343373	ensembl	human	known	69_37n	missense	25	45.65	21	SNP	1.000	G
DSCAM	1826	genome.wustl.edu	37	21	41710185	41710185	+	Silent	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr21:41710185G>A	ENST00000400454.1	-	8	2103	c.1626C>T	c.(1624-1626)aaC>aaT	p.N542N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	542	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGGAAGCAGGTTAGAGTTCT	0.443																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													187.0	177.0	180.0					21																	41710185		1946	4145	6091	-	-	-	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1626C>T	21.37:g.41710185G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N542	ENST00000400454.1	37	c.1626	CCDS42929.1	21																																																																																			DSCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000171587		0.443	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	100	0.00	0	G	NM_001389		41710185	41710185	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	silent	58	29.27	24	SNP	0.092	A
EGFR	1956	genome.wustl.edu	37	7	55211097	55211097	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr7:55211097G>A	ENST00000275493.2	+	3	517	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	EGFR_ENST00000454757.2_Missense_Mutation_p.E61K|EGFR_ENST00000455089.1_Missense_Mutation_p.E114K|EGFR_ENST00000420316.2_Missense_Mutation_p.E114K|EGFR_ENST00000342916.3_Missense_Mutation_p.E114K|EGFR_ENST00000344576.2_Missense_Mutation_p.E114K|EGFR_ENST00000442591.1_Missense_Mutation_p.E114K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	114			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.E114K(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TATGTACTACGAAAATTCCTA	0.458		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												dbGAP	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	2	Substitution - Missense(2)	large_intestine(2)											113.0	113.0	113.0					7																	55211097		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.340G>A	7.37:g.55211097G>A	ENSP00000275493:p.Glu114Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E114K	ENST00000275493.2	37	c.340	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364338	0.41902	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.31	5.31	0.75309	EGF receptor, L domain (1);	0.141063	0.64402	D	0.000006	T	0.69033	0.3066	L	0.37800	1.135	0.58432	D	0.999996	B;B;P;B;B	0.36249	0.142;0.019;0.545;0.04;0.036	B;B;B;B;B	0.28638	0.066;0.016;0.092;0.021;0.017	T	0.71652	-0.4528	10	0.52906	T	0.07	.	11.4126	0.49933	0.0839:0.0:0.9161:0.0	.	114;114;114;114;114	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	K	114;114;114;114;114;114;61;61	ENSP00000415559:E114K;ENSP00000342376:E114K;ENSP00000345973:E114K;ENSP00000413843:E114K;ENSP00000275493:E114K;ENSP00000410031:E114K;ENSP00000413354:E61K;ENSP00000395243:E61K	ENSP00000275493:E114K	E	+	1	0	EGFR	55178591	1.000000	0.71417	0.943000	0.38184	0.083000	0.17756	4.824000	0.62701	2.656000	0.90262	0.655000	0.94253	GAA	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000146648		0.458	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	51	0.00	0	G	NM_005228		55211097	55211097	+1	no_errors	ENST00000275493	ensembl	human	known	69_37n	missense	26	50.00	26	SNP	1.000	A
FAM122C	159091	genome.wustl.edu	37	X	133979418	133979418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chrX:133979418delA	ENST00000370784.4	+	5	738	c.332delA	c.(331-333)gaafs	p.E111fs	FAM122C_ENST00000445123.1_Frame_Shift_Del_p.E26fs|FAM122C_ENST00000370785.3_Frame_Shift_Del_p.E111fs	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	111										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TCTTGGGAAGAAGGCTTGAAA	0.313																																						dbGAP											0													106.0	116.0	113.0					X																	133979418		2203	4292	6495	-	-	-	SO:0001589	frameshift_variant	0			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.332delA	X.37:g.133979418delA	ENSP00000359820:p.Glu111fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H036|Q8WVK9	Frame_Shift_Del	DEL	NULL	p.G112fs	ENST00000370784.4	37	c.332	CCDS55501.1	X																																																																																			FAM122C	-	NULL	ENSG00000156500		0.313	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM122C	HGNC	protein_coding		21	0.00	0	A	NM_138819		133979418	133979418	+1	no_errors	ENST00000370784	ensembl	human	known	69_37n	frame_shift_del	11	29.41	5	DEL	0.148	-
FHOD3	80206	genome.wustl.edu	37	18	34297797	34297797	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr18:34297797T>G	ENST00000359247.4	+	15	1960	c.1960T>G	c.(1960-1962)Ttg>Gtg	p.L654V	FHOD3_ENST00000257209.4_Missense_Mutation_p.L671V|FHOD3_ENST00000445677.1_Missense_Mutation_p.L633V|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.L846V	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	654				L -> K (in Ref. 4; BAC87252). {ECO:0000305}.	actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTTTCAGGTTTGTGGCCCGC	0.502																																						dbGAP											0													102.0	97.0	99.0					18																	34297797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1960T>G	18.37:g.34297797T>G	ENSP00000352186:p.Leu654Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L671V	ENST00000359247.4	37	c.2011		18	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955982	0.34471	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.31769	1.49;1.48;2.11	4.98	-4.49	0.03504	.	0.529172	0.19639	N	0.109481	T	0.29028	0.0721	L	0.51422	1.61	0.22842	N	0.998664	D;D;B	0.61697	0.99;0.965;0.003	P;B;B	0.58928	0.848;0.437;0.005	T	0.40664	-0.9551	10	0.06625	T	0.88	.	6.208	0.20613	0.0:0.4018:0.263:0.3352	.	633;654;671	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	V	671;654;633	ENSP00000257209:L671V;ENSP00000352186:L654V;ENSP00000411430:L633V	ENSP00000257209:L671V	L	+	1	2	FHOD3	32551795	0.923000	0.31300	0.959000	0.39883	0.722000	0.41435	0.265000	0.18515	-0.703000	0.05049	0.374000	0.22700	TTG	FHOD3	-	NULL	ENSG00000134775		0.502	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	92	0.00	0	T	XM_371114		34297797	34297797	+1	no_errors	ENST00000257209	ensembl	human	known	69_37n	missense	62	27.06	23	SNP	0.962	G
FKBP15	23307	genome.wustl.edu	37	9	115931891	115931891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr9:115931891delG	ENST00000238256.3	-	26	3215	c.3098delC	c.(3097-3099)ccafs	p.P1033fs		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1033					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCTGTGGGATGGGATGCAAGA	0.552																																						dbGAP											0													88.0	95.0	93.0					9																	115931891		1946	4144	6090	-	-	-	SO:0001589	frameshift_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3098delC	9.37:g.115931891delG	ENSP00000238256:p.Pro1033fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Frame_Shift_Del	DEL	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.P1033fs	ENST00000238256.3	37	c.3098	CCDS48007.1	9																																																																																			FKBP15	-	NULL	ENSG00000119321		0.552	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		76	0.00	0	G	NM_015258		115931891	115931891	-1	no_errors	ENST00000238256	ensembl	human	known	69_37n	frame_shift_del	8	20.00	2	DEL	0.148	-
GOLGA6L2	283685	genome.wustl.edu	37	15	23685064	23685064	+	Missense_Mutation	SNP	A	A	G	rs112806933		TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr15:23685064A>G	ENST00000567107.1	-	8	2610	c.2558T>C	c.(2557-2559)gTg>gCg	p.V853A	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	612										breast(1)|endometrium(7)	8						tcctggccccacatcttctcc	0.592																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2558T>C	15.37:g.23685064A>G	ENSP00000454407:p.Val853Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	Missense_Mutation	SNP	NULL	p.V853A	ENST00000567107.1	37	c.2558		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.592	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	33	0.00	0	A	NM_182561		23685064	23685064	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	missense	28	17.65	6	SNP	0.000	G
GRIPAP1	56850	genome.wustl.edu	37	X	48853758	48853758	+	Silent	SNP	T	T	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chrX:48853758T>A	ENST00000376441.1	-	5	244	c.210A>T	c.(208-210)gtA>gtT	p.V70V	GRIPAP1_ENST00000376425.3_Silent_p.V70V|GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376423.4_Silent_p.V70V	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	70						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CACTCAGCAATACCTCGACTT	0.527																																						dbGAP											0													83.0	52.0	63.0					X																	48853758		2202	4292	6494	-	-	-	SO:0001819	synonymous_variant	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.210A>T	X.37:g.48853758T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	superfamily_Prefoldin	p.V70	ENST00000376441.1	37	c.210	CCDS35248.1	X																																																																																			GRIPAP1	-	NULL	ENSG00000068400		0.527	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	86	0.00	0	T	NM_207672		48853758	48853758	-1	no_errors	ENST00000376441	ensembl	human	known	69_37n	silent	43	25.86	15	SNP	0.863	A
GRM5	2915	genome.wustl.edu	37	11	88583174	88583174	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr11:88583174C>T	ENST00000305447.4	-	2	960	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	GRM5_ENST00000418177.2_Missense_Mutation_p.A271T|GRM5_ENST00000455756.2_Missense_Mutation_p.A271T|GRM5_ENST00000305432.5_Missense_Mutation_p.A271T|GRM5_ENST00000393297.1_Missense_Mutation_p.A271T	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	271					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACCACCCGGGCCTTGGGCAAG	0.557																																						dbGAP											0													53.0	54.0	54.0					11																	88583174		2201	4299	6500	-	-	-	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.811G>A	11.37:g.88583174C>T	ENSP00000306138:p.Ala271Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1	p.A271T	ENST00000305447.4	37	c.811	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.227264	0.95173	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.87456	2.885	0.58432	D	0.999999	D;D	0.69078	0.984;0.997	P;D	0.76575	0.685;0.988	D	0.94561	0.7762	9	.	.	.	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	271;271	P41594-2;P41594	.;GRM5_HUMAN	T	271	ENSP00000402912:A271T;ENSP00000405690:A271T;ENSP00000305905:A271T;ENSP00000306138:A271T;ENSP00000376975:A271T	.	A	-	1	0	GRM5	88222822	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.145000	0.77365	2.528000	0.85240	0.563000	0.77884	GCC	GRM5	-	pfam_ANF_lig-bd_rcpt	ENSG00000168959		0.557	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	56	0.00	0	C	NM_000842		88583174	88583174	-1	no_errors	ENST00000305447	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	1.000	T
IL22RA2	116379	genome.wustl.edu	37	6	137482869	137482869	+	Silent	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr6:137482869G>A	ENST00000296980.2	-	2	318	c.18C>T	c.(16-18)tgC>tgT	p.C6C	IL22RA2_ENST00000349184.4_Silent_p.C6C|IL22RA2_ENST00000339602.3_Silent_p.C6C	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	6					cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		AGCCTAGAAAGCAATGTTTAG	0.413																																						dbGAP											0													123.0	96.0	105.0					6																	137482869		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.18C>T	6.37:g.137482869G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AH7|Q6UWM1|Q96A41|Q96QR0	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.C6	ENST00000296980.2	37	c.18	CCDS5182.1	6																																																																																			IL22RA2	-	NULL	ENSG00000164485		0.413	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	IL22RA2	HGNC	protein_coding	OTTHUMT00000042399.1	40	0.00	0	G			137482869	137482869	-1	no_errors	ENST00000296980	ensembl	human	known	69_37n	silent	17	46.88	15	SNP	0.643	A
KDM4E	390245	genome.wustl.edu	37	11	94759549	94759549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr11:94759549C>A	ENST00000450979.2	+	1	1128	c.828C>A	c.(826-828)taC>taA	p.Y276*		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	276	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CCTATGGCTACCATGCTGGCT	0.498																																						dbGAP											0													20.0	22.0	21.0					11																	94759549		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.828C>A	11.37:g.94759549C>A	ENSP00000397239:p.Tyr276*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.Y276*	ENST00000450979.2	37	c.828	CCDS44713.1	11	.	.	.	.	.	.	.	.	.	.	c	20.8	4.046580	0.75846	.	.	ENSG00000235268	ENST00000450979	.	.	.	2.18	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.1294	7.1274	0.25479	0.0:0.8498:0.0:0.1502	.	.	.	.	X	276	.	ENSP00000397239:Y276X	Y	+	3	2	KDM4DL	94399197	0.943000	0.32029	0.985000	0.45067	0.177000	0.22998	-0.023000	0.12456	0.488000	0.27723	-0.463000	0.05309	TAC	KDM4E	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000235268		0.498	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	55	0.00	0	C	NM_001161630		94759549	94759549	+1	no_errors	ENST00000450979	ensembl	human	known	69_37n	nonsense	16	36.00	9	SNP	1.000	A
KIF21A	55605	genome.wustl.edu	37	12	39734847	39734848	+	Frame_Shift_Ins	INS	-	-	TTAA			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr12:39734847_39734848insTTAA	ENST00000361418.5	-	15	1985_1986	c.1970_1971insTTAA	c.(1969-1971)aagfs	p.K657fs	KIF21A_ENST00000395670.3_Frame_Shift_Ins_p.K657fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.K644fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.K644fs|KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.K644fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	657					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAGCTTTTGCTTAATTGCAAT	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1967_1970dupTTAA	12.37:g.39734848_39734851dupTTAA	ENSP00000354878:p.Lys657fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K657fs	ENST00000361418.5	37	c.1971_1970	CCDS53776.1	12																																																																																			KIF21A	-	NULL	ENSG00000139116		0.351	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	138	0.00	0	-	NM_017641		39734847	39734848	-1	no_errors	ENST00000395670	ensembl	human	known	69_37n	frame_shift_ins	100	13.79	16	INS	1.000:1.000	TTAA
MSGN1	343930	genome.wustl.edu	37	2	17997955	17997955	+	Missense_Mutation	SNP	C	C	T	rs368478996		TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr2:17997955C>T	ENST00000281047.3	+	1	193	c.170C>T	c.(169-171)tCt>tTt	p.S57F		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	57					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAATCCTATTCTTCTTCTCCC	0.652																																					Melanoma(127;325 1712 14802 40657 49130)	dbGAP											0													58.0	63.0	61.0					2																	17997955		1935	4123	6058	-	-	-	SO:0001583	missense	0				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.170C>T	2.37:g.17997955C>T	ENSP00000281047:p.Ser57Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S57F	ENST00000281047.3	37	c.170	CCDS42657.1	2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441306	0.43326	.	.	ENSG00000151379	ENST00000281047	T	0.19394	2.15	5.77	5.77	0.91146	.	0.215399	0.49916	D	0.000133	T	0.23766	0.0575	L	0.58101	1.795	0.32419	N	0.549667	B	0.30455	0.28	B	0.27500	0.08	T	0.22382	-1.0218	10	0.49607	T	0.09	5.6621	14.7866	0.69808	0.1443:0.8557:0.0:0.0	.	57	A6NI15	MSGN1_HUMAN	F	57	ENSP00000281047:S57F	ENSP00000281047:S57F	S	+	2	0	MSGN1	17861436	0.840000	0.29493	0.613000	0.29037	0.809000	0.45718	2.203000	0.42752	2.732000	0.93576	0.655000	0.94253	TCT	MSGN1	-	NULL	ENSG00000151379		0.652	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MSGN1	HGNC	protein_coding	OTTHUMT00000353253.1	22	0.00	0	C	XM_292850		17997955	17997955	+1	no_errors	ENST00000281047	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.700	T
OR5I1	10798	genome.wustl.edu	37	11	55703086	55703086	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr11:55703086G>C	ENST00000301532.3	-	1	790	c.791C>G	c.(790-792)cCc>cGc	p.P264R		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	264					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAGGTAGCTGGGCCGTGAGTA	0.423																																						dbGAP											0													72.0	71.0	72.0					11																	55703086		2201	4295	6496	-	-	-	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.791C>G	11.37:g.55703086G>C	ENSP00000301532:p.Pro264Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P264R	ENST00000301532.3	37	c.791	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526132	0.44969	.	.	ENSG00000167825	ENST00000301532	T	0.00272	8.36	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000254	T	0.00936	0.0031	M	0.89601	3.045	0.34130	D	0.665176	D	0.89917	1.0	D	0.91635	0.999	T	0.51996	-0.8634	10	0.87932	D	0	.	16.5095	0.84280	0.0:0.0:1.0:0.0	.	264	Q13606	OR5I1_HUMAN	R	264	ENSP00000301532:P264R	ENSP00000301532:P264R	P	-	2	0	OR5I1	55459662	0.984000	0.35163	0.631000	0.29282	0.580000	0.36256	2.815000	0.48018	2.548000	0.85928	0.643000	0.83706	CCC	OR5I1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000167825		0.423	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	61	0.00	0	G	NM_006637		55703086	55703086	-1	no_errors	ENST00000301532	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	0.944	C
OTUB1	55611	genome.wustl.edu	37	11	63753882	63753882	+	5'UTR	SNP	G	G	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr11:63753882G>C	ENST00000428192.2	+	0	277				OTUB1_ENST00000541478.1_5'UTR|OTUB1_ENST00000543988.1_5'Flank|OTUB1_ENST00000538426.1_5'Flank|OTUB1_ENST00000543004.1_5'Flank|OTUB1_ENST00000535715.1_5'UTR|OTUB1_ENST00000422031.2_Missense_Mutation_p.R22P|AP000721.4_ENST00000535431.1_Silent_p.T128T			Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CCGGGAGGACGGCAATTGGCA	0.647																																						dbGAP											0													15.0	18.0	17.0					11																	63753882		1975	3858	5833	-	-	-	SO:0001623	5_prime_UTR_variant	0			AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000428192.2:c.-47G>C	11.37:g.63753882G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	p.R22P	ENST00000428192.2	37	c.65	CCDS8055.1	11	.	.	.	.	.	.	.	.	.	.	g	8.468	0.856792	0.17106	.	.	ENSG00000167770	ENST00000422031	.	.	.	3.66	0.601	0.17529	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.18873	N	0.999986	B	0.16603	0.018	B	0.08055	0.003	T	0.26189	-1.0110	7	0.72032	D	0.01	.	6.5931	0.22658	0.3607:0.0:0.6393:0.0	.	22	B4DPD5	.	P	22	.	ENSP00000416973:R22P	R	+	2	0	OTUB1	63510458	0.953000	0.32496	0.749000	0.31150	0.291000	0.27294	1.348000	0.33987	0.192000	0.20272	-0.392000	0.06488	CGG	OTUB1	-	NULL	ENSG00000167770		0.647	OTUB1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OTUB1	HGNC	protein_coding	OTTHUMT00000396924.1	17	0.00	0	G	NM_017670		63753882	63753882	+1	no_errors	ENST00000422031	ensembl	human	known	69_37n	missense	12	25.00	4	SNP	0.359	C
PCDHA2	56146	genome.wustl.edu	37	5	140174848	140174848	+	Missense_Mutation	SNP	C	C	T	rs376518025		TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr5:140174848C>T	ENST00000526136.1	+	1	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A100V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A100V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAATGTAGC	0.542																																						dbGAP											0													107.0	121.0	117.0					5																	140174848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.299C>T	5.37:g.140174848C>T	ENSP00000431748:p.Ala100Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A100V	ENST00000526136.1	37	c.299	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	10.09	1.254927	0.22965	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.39592	1.07;1.07;1.07	3.98	-1.03	0.10102	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.650048	0.12175	U	0.492616	T	0.24851	0.0603	L	0.35288	1.05	0.09310	N	1	B;B;B	0.33826	0.427;0.293;0.427	B;B;B	0.28011	0.051;0.012;0.085	T	0.09684	-1.0663	10	0.42905	T	0.14	.	5.5556	0.17115	0.0:0.411:0.2253:0.3637	.	100;100;100	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	100	ENSP00000430584:A100V;ENSP00000367372:A100V;ENSP00000431748:A100V	ENSP00000367372:A100V	A	+	2	0	PCDHA2	140155032	0.000000	0.05858	0.958000	0.39756	0.551000	0.35334	-2.232000	0.01205	-0.358000	0.08162	-0.147000	0.13772	GCG	PCDHA2	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204969		0.542	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	66	0.00	0	C	NM_018905		140174848	140174848	+1	no_errors	ENST00000526136	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	0.000	T
PER1	5187	genome.wustl.edu	37	17	8051116	8051116	+	Missense_Mutation	SNP	G	G	A	rs535351039		TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr17:8051116G>A	ENST00000317276.4	-	11	1501	c.1264C>T	c.(1264-1266)Cac>Tac	p.H422Y	PER1_ENST00000581082.1_Missense_Mutation_p.H402Y|PER1_ENST00000354903.5_Missense_Mutation_p.H406Y|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	422	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATAGGGGAGTGGTCAAAGGGC	0.607			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													34.0	35.0	35.0					17																	8051116		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1264C>T	17.37:g.8051116G>A	ENSP00000314420:p.His422Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.H422Y	ENST00000317276.4	37	c.1264	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567723	0.28003	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.16743	2.32;2.32	4.73	4.73	0.59995	PAS fold-3 (1);	0.156815	0.56097	D	0.000031	T	0.31327	0.0793	L	0.46567	1.45	0.45867	D	0.998725	B;D	0.54964	0.305;0.969	B;D	0.70227	0.336;0.968	T	0.01574	-1.1321	10	0.12430	T	0.62	-20.6957	15.5824	0.76455	0.0:0.0:1.0:0.0	.	406;422	B4DI49;O15534	.;PER1_HUMAN	Y	422;406	ENSP00000314420:H422Y;ENSP00000346979:H406Y	ENSP00000314420:H422Y	H	-	1	0	PER1	7991841	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.495000	0.45337	2.619000	0.88677	0.462000	0.41574	CAC	PER1	-	pfam_PAS_fold_3	ENSG00000179094		0.607	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	41	0.00	0	G			8051116	8051116	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178927430	178927430	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr3:178927430G>A	ENST00000263967.3	+	7	1350	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	398	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			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)	GATCTTCCTCGTGCTGCTCGA	0.338		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"""	0													211.0	199.0	202.0					3																	178927430		1872	4110	5982	-	-	-	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.1193G>A	3.37:g.178927430G>A	ENSP00000263967:p.Arg398His	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.R398H	ENST00000263967.3	37	c.1193	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369526	0.82463	.	.	ENSG00000121879	ENST00000263967	T	0.80304	-1.36	5.16	4.29	0.51040	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.056635	0.64402	N	0.000001	D	0.84772	0.5546	M	0.75615	2.305	0.80722	D	1	D	0.63046	0.992	P	0.52514	0.701	D	0.86146	0.1584	10	0.62326	D	0.03	-24.9598	13.1996	0.59761	0.0766:0.0:0.9234:0.0	.	398	P42336	PK3CA_HUMAN	H	398	ENSP00000263967:R398H	ENSP00000263967:R398H	R	+	2	0	PIK3CA	180410124	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	1.187000	0.43000	0.467000	0.42956	CGT	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	105	0.00	0	G			178927430	178927430	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	72	20.88	19	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	31	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	16	54.29	19	SNP	1.000	A
PTPN22	26191	genome.wustl.edu	37	1	114377000	114377000	+	Silent	SNP	T	T	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr1:114377000T>A	ENST00000359785.5	-	15	2091	c.1956A>T	c.(1954-1956)acA>acT	p.T652T	PTPN22_ENST00000525799.1_Silent_p.T525T|PTPN22_ENST00000420377.2_Silent_p.T652T|PTPN22_ENST00000528414.1_Silent_p.T597T|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Silent_p.T408T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	652					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTCCAGTGATGTTCCAATTT	0.363																																						dbGAP											0													142.0	139.0	140.0					1																	114377000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1956A>T	1.37:g.114377000T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T652	ENST00000359785.5	37	c.1956	CCDS863.1	1																																																																																			PTPN22	-	pirsf_Non-rcpt_Tyr_Pase_8/22	ENSG00000134242		0.363	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	81	0.00	0	T	NM_015967		114377000	114377000	-1	no_errors	ENST00000359785	ensembl	human	known	69_37n	silent	67	17.28	14	SNP	0.100	A
RBMX	27316	genome.wustl.edu	37	X	135960146	135960147	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chrX:135960146_135960147insAA	ENST00000320676.7	-	4	469_470	c.315_316insTT	c.(313-318)cctccafs	p.P106fs	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_5'UTR|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Frame_Shift_Ins_p.P106fs|RBMX_ENST00000570135.1_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	106					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P106fs*32(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGACCTCTTGGAGGGCCTCTAC	0.535																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.315_316insTT	X.37:g.135960146_135960147insAA	ENSP00000359645:p.Pro106fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.P105fs	ENST00000320676.7	37	c.316_315	CCDS14661.1	X																																																																																			RBMX	-	NULL	ENSG00000147274		0.535	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	67	0.00	0	-	NM_002139		135960146	135960147	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	frame_shift_ins	69	12.66	10	INS	1.000:1.000	AA
SAGE1	55511	genome.wustl.edu	37	X	134992588	134992588	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chrX:134992588C>T	ENST00000370709.3	+	15	1879	c.1879C>T	c.(1879-1881)Cac>Tac	p.H627Y	SAGE1_ENST00000324447.3_Missense_Mutation_p.H627Y|SAGE1_ENST00000537770.1_Missense_Mutation_p.H251Y|SAGE1_ENST00000535938.1_Missense_Mutation_p.H627Y			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	627						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTCACTCACAACATCCG	0.483																																						dbGAP											0													122.0	100.0	107.0					X																	134992588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1879C>T	X.37:g.134992588C>T	ENSP00000359743:p.His627Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Missense_Mutation	SNP	NULL	p.H627Y	ENST00000370709.3	37	c.1879	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457446	0.26161	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.33216	1.42;1.42;1.48;1.42	1.22	1.22	0.21188	.	0.154988	0.43416	U	0.000569	T	0.35624	0.0938	L	0.32530	0.975	0.09310	N	1	P;D	0.69078	0.663;0.997	B;D	0.77004	0.261;0.989	T	0.03443	-1.1036	10	0.49607	T	0.09	.	5.4207	0.16398	0.0:1.0:0.0:0.0	.	251;627	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	Y	627;627;251;627	ENSP00000323191:H627Y;ENSP00000445959:H627Y;ENSP00000438276:H251Y;ENSP00000359743:H627Y	ENSP00000323191:H627Y	H	+	1	0	SAGE1	134820254	0.014000	0.17966	0.018000	0.16275	0.020000	0.10135	0.953000	0.29162	0.896000	0.36366	0.181000	0.17075	CAC	SAGE1	-	NULL	ENSG00000181433		0.483	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	85	0.00	0	C	NM_018666		134992588	134992588	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	0.018	T
SCN2A	6326	genome.wustl.edu	37	2	166221684	166221684	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr2:166221684G>A	ENST00000375437.2	+	18	3721	c.3431G>A	c.(3430-3432)aGc>aAc	p.S1144N	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1144N|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1144N|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1144N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1144					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTGAAGGCAGCACGGTTGAT	0.383																																						dbGAP											0													93.0	88.0	89.0					2																	166221684		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3431G>A	2.37:g.166221684G>A	ENSP00000364586:p.Ser1144Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.S1144N	ENST00000375437.2	37	c.3431	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873514	0.91664	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.85	5.85	0.93711	Sodium ion transport-associated (1);	0.073855	0.56097	D	0.000022	D	0.96090	0.8726	H	0.96048	3.76	0.58432	D	0.999998	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.997	D	0.96637	0.9471	10	0.72032	D	0.01	.	20.1807	0.98201	0.0:0.0:1.0:0.0	.	1144;1144	Q99250-2;Q99250	.;SCN2A_HUMAN	N	1144	ENSP00000364586:S1144N;ENSP00000349973:S1144N;ENSP00000283256:S1144N;ENSP00000364576:S1144N	ENSP00000283256:S1144N	S	+	2	0	SCN2A	165929930	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.696000	0.98695	2.782000	0.95742	0.655000	0.94253	AGC	SCN2A	-	pfam_Na_trans_assoc	ENSG00000136531		0.383	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	39	0.00	0	G	NM_021007		166221684	166221684	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	A
SRSF11	9295	genome.wustl.edu	37	1	70712533	70712533	+	Missense_Mutation	SNP	G	G	C	rs201108508		TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr1:70712533G>C	ENST00000370950.3	+	10	1047	c.965G>C	c.(964-966)cGt>cCt	p.R322P	SRSF11_ENST00000405432.1_Missense_Mutation_p.R322P|SRSF11_ENST00000370949.1_Missense_Mutation_p.R262P|SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.R322P			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	322	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GAAAAGAAACGTTCTAAAACA	0.348																																						dbGAP											0													143.0	134.0	137.0					1																	70712533		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.965G>C	1.37:g.70712533G>C	ENSP00000359988:p.Arg322Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T758|Q8IWE6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R322P	ENST00000370950.3	37	c.965	CCDS647.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087201	0.76642	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;D;T	0.97430	-1.86;-1.86;-1.86;-4.38;-0.62	5.88	5.88	0.94601	.	0.044822	0.85682	D	0.000000	D	0.97532	0.9192	M	0.70275	2.135	0.80722	D	1	P;D;D;D	0.60575	0.946;0.988;0.988;0.988	P;P;P;P	0.55112	0.758;0.769;0.769;0.769	D	0.97256	0.9901	10	0.56958	D	0.05	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	262;322;322;322	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	P	322;322;322;322;262	ENSP00000359989:R322P;ENSP00000359988:R322P;ENSP00000384357:R322P;ENSP00000378568:R322P;ENSP00000359987:R262P	ENSP00000359987:R262P	R	+	2	0	SRSF11	70485121	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.305000	0.72805	2.792000	0.96026	0.557000	0.71058	CGT	SRSF11	-	NULL	ENSG00000116754		0.348	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	72	0.00	0	G	NM_004768		70712533	70712533	+1	no_errors	ENST00000370950	ensembl	human	known	69_37n	missense	47	16.07	9	SNP	1.000	C
TNRC6B	23112	genome.wustl.edu	37	22	40661738	40661738	+	Missense_Mutation	SNP	A	A	G	rs193065497		TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr22:40661738A>G	ENST00000454349.2	+	5	1715	c.1504A>G	c.(1504-1506)Atg>Gtg	p.M502V	TNRC6B_ENST00000335727.9_Missense_Mutation_p.M502V|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	502	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AGGGAACAAAATGACATCTGG	0.473													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													47.0	47.0	47.0					22																	40661738		1859	4094	5953	-	-	-	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1504A>G	22.37:g.40661738A>G	ENSP00000401946:p.Met502Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.M502V	ENST00000454349.2	37	c.1504	CCDS54533.1	22	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	5.582	0.292196	0.10567	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.44881	0.91;0.91	5.96	5.96	0.96718	.	0.212880	0.53938	D	0.000059	T	0.25901	0.0631	N	0.14661	0.345	0.24281	N	0.995202	B;B;B	0.14438	0.01;0.002;0.009	B;B;B	0.12156	0.007;0.003;0.006	T	0.13045	-1.0524	10	0.32370	T	0.25	-4.6022	10.2828	0.43550	0.7588:0.0:0.0:0.2412	.	502;502;502	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	V	502	ENSP00000401946:M502V;ENSP00000338371:M502V	ENSP00000338371:M502V	M	+	1	0	TNRC6B	38991684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.234000	0.43035	2.285000	0.76669	0.528000	0.53228	ATG	TNRC6B	-	NULL	ENSG00000100354		0.473	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		34	0.00	0	A			40661738	40661738	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)											47.0	47.0	47.0					17																	7578394		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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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.H179R	ENST00000269305.4	37	c.536	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	61	0.00	0	T	NM_000546		7578394	7578394	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	1.000	C
UBAP2	55833	genome.wustl.edu	37	9	33923840	33923841	+	In_Frame_Ins	INS	-	-	GGG			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr9:33923840_33923841insGGG	ENST00000379238.1	-	24	2865_2866	c.2748_2749insCCC	c.(2746-2751)ccctac>cccCCCtac	p.916_917insP	UBAP2_ENST00000360802.1_In_Frame_Ins_p.916_917insP|UBAP2_ENST00000379235.1_In_Frame_Ins_p.155_156insP|UBAP2_ENST00000449054.1_In_Frame_Ins_p.916_917insP|UBAP2_ENST00000539807.1_In_Frame_Ins_p.671_672insP|UBAP2_ENST00000379239.4_In_Frame_Ins_p.649_650insP					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTGTGTAGTAGGGAAGACCAG	0.574																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2746_2748dupCCC	9.37:g.33923841_33923843dupGGG	ENSP00000368540:p.Pro916_Pro916dup	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.916in_frame_insP	ENST00000379238.1	37	c.2749_2748	CCDS6547.1	9																																																																																			UBAP2	-	NULL	ENSG00000137073		0.574	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	243	0.00	0	-	NM_018449		33923840	33923841	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	in_frame_ins	36	12.20	5	INS	1.000:1.000	GGG
USP10	9100	genome.wustl.edu	37	16	84778300	84778300	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr16:84778300G>T	ENST00000219473.7	+	4	326	c.213G>T	c.(211-213)ttG>ttT	p.L71F	USP10_ENST00000570191.1_Missense_Mutation_p.L75F|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	71	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GTGACACTTTGCCGAGAACCC	0.423																																						dbGAP											0													56.0	53.0	54.0					16																	84778300		1846	4091	5937	-	-	-	SO:0001583	missense	0			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.213G>T	16.37:g.84778300G>T	ENSP00000219473:p.Leu71Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19	p.L75F	ENST00000219473.7	37	c.225	CCDS45537.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.72|12.72	2.023644|2.023644	0.35701|0.35701	.|.	.|.	ENSG00000103194|ENSG00000103194	ENST00000540269|ENST00000219473	.|T	.|0.08102	.|3.13	5.06|5.06	3.89|3.89	0.44902|0.44902	.|.	.|1.155260	.|0.06308	.|N	.|0.702045	T|T	0.12987|0.12987	0.0315|0.0315	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	1|1	.|D;P	.|0.54964	.|0.969;0.818	.|P;B	.|0.46452	.|0.517;0.249	T|T	0.23332|0.23332	-1.0191|-1.0191	5|10	.|0.62326	.|D	.|0.03	-0.4508|-0.4508	5.9727|5.9727	0.19361|0.19361	0.1528:0.1883:0.6588:0.0|0.1528:0.1883:0.6588:0.0	.|.	.|75;71	.|Q14694-3;Q14694	.|.;UBP10_HUMAN	F|F	51|71	.|ENSP00000219473:L71F	.|ENSP00000219473:L71F	C|L	+|+	2|3	0|2	USP10|USP10	83335801|83335801	1.000000|1.000000	0.71417|0.71417	0.040000|0.040000	0.18447|0.18447	0.740000|0.740000	0.42216|0.42216	1.275000|1.275000	0.33144|0.33144	2.331000|2.331000	0.79229|0.79229	0.491000|0.491000	0.48974|0.48974	TGC|TTG	USP10	-	NULL	ENSG00000103194		0.423	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	67	0.00	0	G			84778300	84778300	+1	no_errors	ENST00000570191	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	0.138	T
ZNF564	163050	genome.wustl.edu	37	19	12639170	12639171	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D8-A1JF-01A-11D-A13L-09	TCGA-D8-A1JF-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	d31358da-639c-4fe5-9f7c-c17c31fd2865	0917f25a-6777-491e-9ecd-64183b063739	g.chr19:12639170_12639171insT	ENST00000339282.7	-	3	334_335	c.138_139insA	c.(136-141)aaatggfs	p.W47fs	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGTCTTCCCATTTTTTTCCTA	0.337																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.139dupA	19.37:g.12639177_12639177dupT	ENSP00000340004:p.Trp47fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT4|Q6P1K6	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W46fs	ENST00000339282.7	37	c.139_138	CCDS42505.1	19																																																																																			ZNF564	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000249709		0.337	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	77	0.00	0	-	NM_144976		12639170	12639171	-1	no_errors	ENST00000339282	ensembl	human	known	69_37n	frame_shift_ins	35	36.36	20	INS	0.833:0.789	T
