#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AFF2	2334	genome.wustl.edu	37	X	147733596	147733596	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chrX:147733596G>T	ENST00000370460.2	+	2	603	c.124G>T	c.(124-126)Gat>Tat	p.D42Y	AFF2_ENST00000370458.1_Missense_Mutation_p.D42Y|AFF2_ENST00000342251.3_Missense_Mutation_p.D42Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D42Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	42					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGAAGACGATCTCTTTTC	0.378																																						dbGAP											0													203.0	192.0	195.0					X																	147733596		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.124G>T	X.37:g.147733596G>T	ENSP00000359489:p.Asp42Tyr		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.D42Y	ENST00000370460.2	37	c.124	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916629	0.73098	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.62	4.75	0.60458	.	0.065426	0.56097	D	0.000029	T	0.76463	0.3991	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.97110	0.982;0.982;0.982;0.966;0.98;1.0	T	0.78329	-0.2246	10	0.66056	D	0.02	.	15.6398	0.76989	0.0:0.1339:0.8661:0.0	.	42;42;42;42;42;42	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	Y	42	ENSP00000359489:D42Y;ENSP00000359486:D42Y;ENSP00000345459:D42Y;ENSP00000359487:D42Y	ENSP00000345459:D42Y	D	+	1	0	AFF2	147541288	1.000000	0.71417	0.784000	0.31847	0.881000	0.50899	9.188000	0.94921	1.114000	0.41781	0.594000	0.82650	GAT	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	93	0.00	0	G	NM_002025		147733596	147733596	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	62	28.74	25	SNP	0.998	T
ENKD1	84080	genome.wustl.edu	37	16	67697208	67697208	+	Silent	SNP	C	C	A			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr16:67697208C>A	ENST00000243878.4	-	7	1218	c.897G>T	c.(895-897)ctG>ctT	p.L299L	ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602644.1_3'UTR|ACD_ENST00000219251.8_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	299	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											CCAGCTCACGCAGCAGCTGGC	0.672																																						dbGAP											0													61.0	62.0	62.0					16																	67697208		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.897G>T	16.37:g.67697208C>A			Q6UWD7	Silent	SNP	NULL	p.L299	ENST00000243878.4	37	c.897	CCDS10844.1	16																																																																																			C16orf48	-	NULL	ENSG00000124074		0.672	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf48	HGNC	protein_coding	OTTHUMT00000268884.1	19	0.00	0	C	NM_032140		67697208	67697208	-1	no_errors	ENST00000243878	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.699	A
CACNB3	784	genome.wustl.edu	37	12	49220772	49220772	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr12:49220772A>G	ENST00000301050.2	+	12	1205	c.1006A>G	c.(1006-1008)Att>Gtt	p.I336V	CACNB3_ENST00000547392.1_Missense_Mutation_p.I309V|CACNB3_ENST00000540990.1_Missense_Mutation_p.I323V|CACNB3_ENST00000547230.1_Missense_Mutation_p.I295V|CACNB3_ENST00000536187.2_Missense_Mutation_p.I335V	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	336					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTTGATGTGATTCTGGATGA	0.632																																						dbGAP											0													105.0	107.0	106.0					12																	49220772		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1006A>G	12.37:g.49220772A>G	ENSP00000301050:p.Ile336Val		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.I336V	ENST00000301050.2	37	c.1006	CCDS8769.1	12	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319049	0.60524	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.61	5.61	0.85477	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.74546	2.27	0.80722	D	1	B;P;P;P	0.42871	0.445;0.753;0.792;0.792	P;P;P;P	0.59643	0.45;0.781;0.861;0.861	T	0.60265	-0.7297	10	0.35671	T	0.21	-8.79	14.7789	0.69751	1.0:0.0:0.0:0.0	.	335;323;336;323	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	V	323;335;309;336;295	ENSP00000445495:I323V;ENSP00000444160:I335V;ENSP00000446529:I309V;ENSP00000301050:I336V;ENSP00000448304:I295V	ENSP00000301050:I336V	I	+	1	0	CACNB3	47507039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.349000	0.79376	2.146000	0.66826	0.533000	0.62120	ATT	CACNB3	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel	ENSG00000167535		0.632	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	29	0.00	0	A			49220772	49220772	+1	no_errors	ENST00000301050	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	G
CDCA2	157313	genome.wustl.edu	37	8	25341520	25341520	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr8:25341520A>G	ENST00000330560.3	+	10	1636	c.1159A>G	c.(1159-1161)Atg>Gtg	p.M387V	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.M372V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	387					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTCTAAATATGAGGAAGAG	0.353																																						dbGAP											0													48.0	51.0	50.0					8																	25341520		2203	4300	6503	-	-	-	SO:0001583	missense	0			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1159A>G	8.37:g.25341520A>G	ENSP00000328228:p.Met387Val		Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	NULL	p.M387V	ENST00000330560.3	37	c.1159	CCDS6049.1	8	.	.	.	.	.	.	.	.	.	.	A	8.621	0.891370	0.17613	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.30182	1.54;1.54	5.87	-11.2	0.00127	.	1.757840	0.02395	N	0.080060	T	0.12817	0.0311	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.14282	-1.0478	10	0.10377	T	0.69	1.699	3.2413	0.06782	0.2923:0.2449:0.368:0.0948	.	387;372;387	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	V	387;372	ENSP00000328228:M387V;ENSP00000370040:M372V	ENSP00000328228:M387V	M	+	1	0	CDCA2	25397437	0.001000	0.12720	0.000000	0.03702	0.150000	0.21749	-1.455000	0.02379	-1.368000	0.02149	0.528000	0.53228	ATG	CDCA2	-	NULL	ENSG00000184661		0.353	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA2	HGNC	protein_coding	OTTHUMT00000216891.3	40	0.00	0	A	NM_152562		25341520	25341520	+1	no_errors	ENST00000330560	ensembl	human	known	69_37n	missense	29	38.30	18	SNP	0.000	G
DMD	1756	genome.wustl.edu	37	X	31165493	31165493	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chrX:31165493G>A	ENST00000357033.4	-	75	10902	c.10696C>T	c.(10696-10698)Cgt>Tgt	p.R3566C	DMD_ENST00000378702.4_Missense_Mutation_p.R498C|DMD_ENST00000378677.2_Missense_Mutation_p.R3562C|DMD_ENST00000378680.2_Missense_Mutation_p.R388C|DMD_ENST00000361471.4_Missense_Mutation_p.R485C|DMD_ENST00000343523.2_Missense_Mutation_p.R996C|DMD_ENST00000474231.1_Missense_Mutation_p.R1106C|DMD_ENST00000378707.3_Missense_Mutation_p.R1106C|DMD_ENST00000541735.1_Missense_Mutation_p.R996C|DMD_ENST00000359836.1_Missense_Mutation_p.R1093C|DMD_ENST00000378723.3_Missense_Mutation_p.R498C	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3566					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R3561C(1)|p.R1106C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGTGTTGACGCAGTAGCTTG	0.567																																						dbGAP											2	Substitution - Missense(2)	pancreas(2)											81.0	67.0	72.0					X																	31165493		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10696C>T	X.37:g.31165493G>A	ENSP00000354923:p.Arg3566Cys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R3566C	ENST00000357033.4	37	c.10696	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.704082|4.704082	0.88924|0.88924	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.78364	.|1.18;2.71;-1.17;-1.17;2.74;3.05;2.64;3.09;1.17;2.7;1.23;1.51	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	.|0.000000	.|0.35739	.|U	.|0.003010	D|D	0.89015|0.89015	0.6595|0.6595	M|M	0.85945|0.85945	2.785|2.785	0.48452|0.48452	D|D	0.999657|0.999657	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.97110	.|0.988;0.997;0.993;0.994;0.996;0.996;1.0;0.997;0.997;0.985;0.994;0.999;0.995;1.0;0.999;0.993	D|D	0.90617|0.90617	0.4556|0.4556	5|10	.|0.56958	.|D	.|0.05	.|.	16.7086|16.7086	0.85379|0.85379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|388;3558;3566;3562;2225;2222;1093;1106;1106;996;996;3443;485;498;485;498	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	V|C	1294|3558;2225;2222;498;1249;3562;3566;1093;996;3566;3443;1106;996;498;1106;485;388	.|ENSP00000367997:R498C;ENSP00000350765:R1249C;ENSP00000367948:R3562C;ENSP00000354923:R3566C;ENSP00000352894:R1093C;ENSP00000340057:R996C;ENSP00000367979:R1106C;ENSP00000444119:R996C;ENSP00000367974:R498C;ENSP00000417123:R1106C;ENSP00000354464:R485C;ENSP00000367951:R388C	.|ENSP00000340057:R996C	A|R	-|-	2|1	0|0	DMD|DMD	31075414|31075414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.450000|6.450000	0.73477|0.73477	2.118000|2.118000	0.64928|0.64928	0.513000|0.513000	0.50165|0.50165	GCG|CGT	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.567	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	46	0.00	0	G	NM_004006		31165493	31165493	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	A
DNMT3B	1789	genome.wustl.edu	37	20	31376692	31376692	+	Silent	SNP	G	G	A			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr20:31376692G>A	ENST00000328111.2	+	7	1008	c.687G>A	c.(685-687)gtG>gtA	p.V229V	DNMT3B_ENST00000353855.2_Silent_p.V229V|DNMT3B_ENST00000375623.4_Silent_p.V187V|DNMT3B_ENST00000344505.4_Silent_p.V229V|DNMT3B_ENST00000456297.2_Silent_p.V153V|DNMT3B_ENST00000201963.3_Silent_p.V241V|DNMT3B_ENST00000443239.3_Silent_p.V187V|DNMT3B_ENST00000348286.2_Silent_p.V229V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	229	Interaction with DNMT1 and DNMT3A.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGACCTCGTGTGGGGAAAGA	0.577																																						dbGAP											0													87.0	87.0	87.0					20																	31376692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.687G>A	20.37:g.31376692G>A			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.V229	ENST00000328111.2	37	c.687	CCDS13205.1	20																																																																																			DNMT3B	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000088305		0.577	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	HGNC	protein_coding	OTTHUMT00000078643.2	48	0.00	0	G	NM_006892		31376692	31376692	+1	no_errors	ENST00000328111	ensembl	human	known	69_37n	silent	29	40.82	20	SNP	0.998	A
EHBP1L1	254102	genome.wustl.edu	37	11	65350230	65350230	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr11:65350230C>G	ENST00000309295.4	+	9	2352	c.2087C>G	c.(2086-2088)tCt>tGt	p.S696C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	696	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACAATACAGTCTGAGATGCTG	0.493																																						dbGAP											0													59.0	61.0	60.0					11																	65350230		1889	4123	6012	-	-	-	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2087C>G	11.37:g.65350230C>G	ENSP00000312671:p.Ser696Cys		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S696C	ENST00000309295.4	37	c.2087	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430942	0.43122	.	.	ENSG00000173442	ENST00000309295	T	0.67698	-0.28	4.6	0.477	0.16784	.	1.560970	0.04460	N	0.374230	T	0.59514	0.2199	L	0.34521	1.04	0.09310	N	1	D	0.54047	0.964	P	0.46975	0.533	T	0.50642	-0.8804	10	0.62326	D	0.03	.	4.792	0.13254	0.0:0.5551:0.1609:0.284	.	696	Q8N3D4	EH1L1_HUMAN	C	696	ENSP00000312671:S696C	ENSP00000312671:S696C	S	+	2	0	EHBP1L1	65106806	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.075000	0.14686	0.038000	0.15604	-0.136000	0.14681	TCT	EHBP1L1	-	NULL	ENSG00000173442		0.493	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	27	0.00	0	C	XM_170658		65350230	65350230	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	missense	23	55.77	29	SNP	0.000	G
EHBP1L1	254102	genome.wustl.edu	37	11	65351789	65351789	+	Silent	SNP	C	C	G			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr11:65351789C>G	ENST00000309295.4	+	10	3436	c.3171C>G	c.(3169-3171)gtC>gtG	p.V1057V		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1057	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCGTGGCGTCCGCATCACCA	0.622																																						dbGAP											0													76.0	86.0	83.0					11																	65351789		2168	4265	6433	-	-	-	SO:0001819	synonymous_variant	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3171C>G	11.37:g.65351789C>G			Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.P107A	ENST00000309295.4	37	c.319	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	C	9.351	1.065517	0.20067	.	.	ENSG00000173442	ENST00000533465	.	.	.	5.41	1.1	0.20463	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	.	10.5637	0.45161	0.0:0.3995:0.5232:0.0772	.	.	.	.	A	107	.	.	P	+	1	0	EHBP1L1	65108365	0.602000	0.26916	0.555000	0.28281	0.926000	0.56050	-0.108000	0.10857	0.239000	0.21243	-0.308000	0.09152	CCG	EHBP1L1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000173442		0.622	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	20	0.00	0	C	XM_170658		65351789	65351789	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000533465	ensembl	human	putative	69_37n	missense	5	72.22	13	SNP	0.989	G
EHBP1L1	254102	genome.wustl.edu	37	11	65351858	65351858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr11:65351858C>G	ENST00000309295.4	+	10	3505	c.3240C>G	c.(3238-3240)taC>taG	p.Y1080*		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1080	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCGATTCTACCCAGACAAGA	0.612																																						dbGAP											0													44.0	50.0	48.0					11																	65351858		2149	4252	6401	-	-	-	SO:0001587	stop_gained	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3240C>G	11.37:g.65351858C>G	ENSP00000312671:p.Tyr1080*		Q8TB89|Q9H7M7	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Y1080*	ENST00000309295.4	37	c.3240	CCDS44649.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.337811|4.337811	0.81911|0.81911	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000533465|ENST00000309295;ENST00000533237	.|.	.|.	.|.	5.31|5.31	2.38|2.38	0.29361|0.29361	.|.	.|0.458067	.|0.18881	.|N	.|0.128580	T|.	0.47116|.	0.1428|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16247|.	-1.0409|.	4|.	.|0.16420	.|T	.|0.52	.|.	7.6314|7.6314	0.28240|0.28240	0.0:0.6505:0.0:0.3495|0.0:0.6505:0.0:0.3495	.|.	.|.	.|.	.|.	A|X	130|1080;497	.|.	.|ENSP00000312671:Y1080X	P|Y	+|+	1|3	0|2	EHBP1L1|EHBP1L1	65108434|65108434	0.849000|0.849000	0.29639|0.29639	0.970000|0.970000	0.41538|0.41538	0.995000|0.995000	0.86356|0.86356	0.031000|0.031000	0.13710|0.13710	0.633000|0.633000	0.30452|0.30452	0.561000|0.561000	0.74099|0.74099	CCC|TAC	EHBP1L1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000173442		0.612	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	21	0.00	0	C	XM_170658		65351858	65351858	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	nonsense	8	57.89	11	SNP	0.999	G
GBA3	57733	genome.wustl.edu	37	4	22749308	22749308	+	RNA	SNP	G	G	A			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr4:22749308G>A	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATCACTTTTTGCGGTCTGGTT	0.433																																						dbGAP											0													160.0	156.0	157.0					4																	22749308		1882	4097	5979	-	-	-			0			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749308G>A			Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	NULL	p.A226T	ENST00000503442.1	37	c.676		4																																																																																			GBA3	-	NULL	ENSG00000249948		0.433	GBA3-003	KNOWN	basic	polymorphic_pseudogene	GBA3	HGNC	polymorphic_pseudogene	OTTHUMT00000360620.2	42	0.00	0	G			22749308	22749308	+1	pseudogene	ENST00000508166	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	0.000	A
FGG	2266	genome.wustl.edu	37	4	155533321	155533321	+	Silent	SNP	T	T	A	rs11551836		TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr4:155533321T>A	ENST00000336098.3	-	3	194	c.156A>T	c.(154-156)gcA>gcT	p.A52A	FGG_ENST00000407946.1_Silent_p.A52A|FGG_ENST00000404648.3_Silent_p.A52A|FGG_ENST00000405164.1_Silent_p.A52A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	52					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACAGGAAATCTGCAATGCCAC	0.338																																						dbGAP											0													101.0	90.0	94.0					4																	155533321		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.156A>T	4.37:g.155533321T>A			A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Splice_Site	SNP	-	e1-2	ENST00000336098.3	37	c.1-2	CCDS3788.1	4																																																																																			FGG	-	-	ENSG00000171557		0.338	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	48	0.00	0	T	NM_021870		155533321	155533321	-1	no_stop_codon	ENST00000443553	ensembl	human	putative	69_37n	splice_site	72	13.25	11	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	64041947	64041947	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr15:64041947G>A	ENST00000443617.2	-	9	2033	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	649					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGTAGCTTCTGAAGAACCACA	0.413																																						dbGAP											0													45.0	41.0	42.0					15																	64041947		1888	4118	6006	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1946C>T	15.37:g.64041947G>A	ENSP00000390158:p.Ser649Leu		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S649L	ENST00000443617.2	37	c.1946	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.683618	0.96774	.	.	ENSG00000103657	ENST00000443617	D	0.85702	-2.02	5.73	5.73	0.89815	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000004	D	0.86802	0.6020	N	0.25890	0.77	0.80722	D	1	D	0.55385	0.971	P	0.58013	0.831	D	0.87305	0.2308	10	0.54805	T	0.06	.	19.8983	0.96975	0.0:0.0:1.0:0.0	.	649	Q15751	HERC1_HUMAN	L	649	ENSP00000390158:S649L	ENSP00000390158:S649L	S	-	2	0	HERC1	61829000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.718000	0.92993	0.650000	0.86243	TCA	HERC1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000103657		0.413	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	36	0.00	0	G	NM_003922		64041947	64041947	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	25	21.21	7	SNP	1.000	A
HEXB	3074	genome.wustl.edu	37	5	73985157	73985157	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr5:73985157C>T	ENST00000261416.7	+	2	421	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	HEXB_ENST00000511181.1_5'UTR	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	102					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		AAACAGATATCATGGCTATAT	0.358																																					Melanoma(66;841 1270 13391 18706 27225)	dbGAP											0													113.0	116.0	115.0					5																	73985157		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.304C>T	5.37:g.73985157C>T	ENSP00000261416:p.His102Tyr			Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.H102Y	ENST00000261416.7	37	c.304	CCDS4022.1	5	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.344207	0.00222	.	.	ENSG00000049860	ENST00000261416	D	0.87650	-2.28	5.65	-1.82	0.07857	Acetylhexosaminidase, subunit a/b (1);	0.380663	0.30446	N	0.009608	T	0.59376	0.2189	N	0.01228	-0.945	0.28283	N	0.923878	B	0.06786	0.001	B	0.01281	0.0	T	0.57300	-0.7835	10	0.02654	T	1	-8.6972	11.8641	0.52482	0.0:0.4742:0.0:0.5258	.	102	P07686	HEXB_HUMAN	Y	102	ENSP00000261416:H102Y	ENSP00000261416:H102Y	H	+	1	0	HEXB	74020913	0.034000	0.19679	0.024000	0.17045	0.014000	0.08584	-0.273000	0.08548	-0.201000	0.10284	-0.302000	0.09304	CAT	HEXB	-	pfam_Glyco_hydro_20b	ENSG00000049860		0.358	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXB	HGNC	protein_coding	OTTHUMT00000219859.6	66	0.00	0	C	NM_000521		73985157	73985157	+1	no_errors	ENST00000261416	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.168	T
IFITM3	10410	genome.wustl.edu	37	11	319891	319891	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr11:319891T>A	ENST00000399808.4	-	2	585	c.349A>T	c.(349-351)Atg>Ttg	p.M117L	RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.M96L|IFITM3_ENST00000526811.1_Missense_Mutation_p.M96L|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	117	Interaction with VAPA.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAATGGTCATGAGGATGCCC	0.582																																						dbGAP											0													78.0	81.0	80.0					11																	319891		2029	4166	6195	-	-	-	SO:0001583	missense	0			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.349A>T	11.37:g.319891T>A	ENSP00000382707:p.Met117Leu		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.M117L	ENST00000399808.4	37	c.349	CCDS41585.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.868|2.868	-0.234628|-0.234628	0.05983|0.05983	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|D;D	.|0.84442	.|-1.85;-1.85	4.15|4.15	-8.29|-8.29	0.01009|0.01009	.|.	.|.	.|.	.|.	.|.	T|T	0.67776|0.67776	0.2929|0.2929	L|L	0.28504|0.28504	0.86|0.86	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.51764|0.51764	-0.8664|-0.8664	6|8	0.87932|.	D|.	0|.	10.2098|10.2098	3.3599|3.3599	0.07182|0.07182	0.0903:0.3452:0.1415:0.4231|0.0903:0.3452:0.1415:0.4231	.|.	.|117	.|Q01628	.|IFM3_HUMAN	L|L	97|117;96	.|ENSP00000382707:M117L;ENSP00000432108:M96L	ENSP00000372047:H97L|.	H|M	-|-	2|1	0|0	IFITM3|IFITM3	309891|309891	0.425000|0.425000	0.25498|0.25498	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.487000|0.487000	0.22356|0.22356	-1.327000|-1.327000	0.02264|0.02264	-0.249000|-0.249000	0.11873|0.11873	CAT|ATG	IFITM3	-	pfam_Interferon-induced_TM_protein	ENSG00000142089		0.582	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM3	HGNC	protein_coding	OTTHUMT00000384765.1	39	0.00	0	T	NM_021034		319891	319891	-1	no_errors	ENST00000399808	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.000	A
LSM14B	149986	genome.wustl.edu	37	20	60701300	60701300	+	Intron	SNP	G	G	A	rs34644175		TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr20:60701300G>A	ENST00000279068.6	+	3	451				LSM14B_ENST00000370915.1_Intron|LSM14B_ENST00000253001.4_Intron	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)						multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCCCTGATGAAGGCGTGCG	0.607																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.292-60G>A	20.37:g.60701300G>A			Q6PFW8|Q96LH8	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.E104K	ENST00000279068.6	37	c.310	CCDS46626.1	20	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110464	0.20714	.	.	ENSG00000149657	ENST00000400318	T	0.40756	1.02	3.01	1.03	0.20045	.	.	.	.	.	T	0.28532	0.0706	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.26360	-1.0105	8	0.62326	D	0.03	.	4.4876	0.11797	0.161:0.3465:0.4926:0.0	.	104	Q5TBQ0	.	K	104	ENSP00000383172:E104K	ENSP00000383172:E104K	E	+	1	0	LSM14B	60134695	0.000000	0.05858	0.010000	0.14722	0.004000	0.04260	-0.052000	0.11865	0.322000	0.23283	-0.308000	0.09152	GAA	LSM14B	-	NULL	ENSG00000149657		0.607	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4	21	0.00	0	G	NM_144703		60701300	60701300	+1	no_stop_codon	ENST00000400318	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.023	A
MEF2A	4205	genome.wustl.edu	37	15	100247006	100247006	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr15:100247006A>G	ENST00000557785.1	+	9	1280	c.931A>G	c.(931-933)Agc>Ggc	p.S311G	MEF2A_ENST00000558812.1_Missense_Mutation_p.S251G|MEF2A_ENST00000453228.2_Missense_Mutation_p.S311G|MEF2A_ENST00000557942.1_Missense_Mutation_p.S319G|MEF2A_ENST00000354410.5_Missense_Mutation_p.S313G|MEF2A_ENST00000449277.2_Missense_Mutation_p.S243G|MEF2A_ENST00000338042.6_Missense_Mutation_p.S320G	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	321					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GACAACCCCAAGCTTGCCTCC	0.502																																						dbGAP											0													82.0	79.0	80.0					15																	100247006		2037	4183	6220	-	-	-	SO:0001583	missense	0				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.931A>G	15.37:g.100247006A>G	ENSP00000453441:p.Ser311Gly		B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.S320G	ENST00000557785.1	37	c.958	CCDS53978.1	15	.	.	.	.	.	.	.	.	.	.	A	28.8	4.952705	0.92660	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T	0.35605	1.3;1.3;1.3	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	L	0.56280	1.765	0.43065	D	0.99469	D;D;D;D;D;D	0.67145	0.979;0.979;0.989;0.996;0.988;0.993	D;D;D;D;D;D	0.79108	0.983;0.977;0.958;0.99;0.992;0.981	T	0.57929	-0.7726	10	0.62326	D	0.03	-24.4667	16.643	0.85134	1.0:0.0:0.0:0.0	.	321;251;232;311;313;319	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	G	311;313;320;251	ENSP00000404110:S311G;ENSP00000346389:S313G;ENSP00000337202:S320G	ENSP00000337202:S320G	S	+	1	0	MEF2A	98064529	1.000000	0.71417	0.950000	0.38849	0.995000	0.86356	8.962000	0.93254	2.330000	0.79161	0.533000	0.62120	AGC	MEF2A	-	NULL	ENSG00000068305		0.502	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	37	0.00	0	A			100247006	100247006	+1	no_errors	ENST00000338042	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	0.999	G
NAALADL2	254827	genome.wustl.edu	37	3	175520852	175520852	+	Missense_Mutation	SNP	G	G	T	rs75609505		TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr3:175520852G>T	ENST00000454872.1	+	14	2377	c.2249G>T	c.(2248-2250)tGg>tTg	p.W750L		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	750						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATAGAGGCTTGGGAACACTGC	0.398																																						dbGAP											0													61.0	58.0	59.0					3																	175520852		1828	4086	5914	-	-	-	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2249G>T	3.37:g.175520852G>T	ENSP00000404705:p.Trp750Leu		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.W750L	ENST00000454872.1	37	c.2249	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.212180	0.00289	.	.	ENSG00000177694	ENST00000454872	T	0.23754	1.89	5.67	2.83	0.33086	Transferrin receptor-like, dimerisation domain (2);	1.176010	0.06177	N	0.678725	T	0.09686	0.0238	N	0.04508	-0.205	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.35051	-0.9804	10	0.06099	T	0.92	-0.3139	2.2406	0.04018	0.147:0.1168:0.4033:0.333	.	750	Q58DX5	NADL2_HUMAN	L	750	ENSP00000404705:W750L	ENSP00000404705:W750L	W	+	2	0	NAALADL2	177003546	0.747000	0.28283	0.554000	0.28268	0.234000	0.25298	0.702000	0.25631	0.286000	0.22352	0.573000	0.79308	TGG	NAALADL2	-	superfamily_TFR-like_dimer_dom	ENSG00000177694		0.398	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	46	0.00	0	G	NM_207015		175520852	175520852	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	37	19.15	9	SNP	0.513	T
NBPF1	55672	genome.wustl.edu	37	1	16905718	16905718	+	Missense_Mutation	SNP	A	A	C	rs3738661	byFrequency	TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr1:16905718A>C	ENST00000430580.2	-	17	2658	c.1771T>G	c.(1771-1773)Tgc>Ggc	p.C591G	NBPF1_ENST00000287968.8_5'Flank|NBPF1_ENST00000432949.1_Missense_Mutation_p.C49G	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	591			C -> G (in dbSNP:rs3738661).			cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCAGGAAGCAGGCCAGTTGA	0.433																																						dbGAP											0													15.0	15.0	15.0					1																	16905718		1067	2403	3470	-	-	-	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1771T>G	1.37:g.16905718A>C	ENSP00000474456:p.Cys591Gly		Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-	ENSG00000219481		0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	27	0.00	0	A	NM_017940		16905718	16905718	-1	no_errors	ENST00000430580	ensembl	human	known	69_37n	rna	28	20.00	7	SNP	0.008	C
OR2A5	393046	genome.wustl.edu	37	7	143747698	143747698	+	Silent	SNP	T	T	C			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr7:143747698T>C	ENST00000408906.2	+	1	238	c.204T>C	c.(202-204)atT>atC	p.I68I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGGCCATCATTGATATTTCGT	0.498																																						dbGAP											0													96.0	97.0	97.0					7																	143747698		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.204T>C	7.37:g.143747698T>C			B9EGX2|O43885|O43888	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I68	ENST00000408906.2	37	c.204	CCDS43668.1	7																																																																																			OR2A5	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221836		0.498	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A5	HGNC	protein_coding	OTTHUMT00000349986.1	39	0.00	0	T			143747698	143747698	+1	no_errors	ENST00000408906	ensembl	human	known	69_37n	silent	41	30.51	18	SNP	0.003	C
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; 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). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	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	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	77	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	21	68.18	45	SNP	1.000	A
POLR2J	5439	genome.wustl.edu	37	7	102119254	102119256	+	Splice_Site	DEL	CTT	CTT	-	rs141678884		TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr7:102119254_102119256delCTT	ENST00000292614.5	-	1	98_100	c.52_54delAAG	c.(52-54)aagdel	p.K18del	AC093668.3_ENST00000607525.1_RNA|POLR2J_ENST00000393794.3_Splice_Site_p.K18del	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	18					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|LRR domain binding (GO:0030275)	p.?(1)		pancreas(2)	2						GCGTCACTTACTTCTTCTCGCCC	0.685											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Unknown(1)	pancreas(1)								54,3764		3,48,1858						2.5	1.0			17	108,7482		12,84,3699	no	coding-near-splice	POLR2J	NM_006234.4		15,132,5557	A1A1,A1R,RR		1.4229,1.4144,1.4201				162,11246				-	-	-	SO:0001630	splice_region_variant	0			X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"""RNA polymerase subunits"""	9197	protein-coding gene	gene with protein product		604150	"""polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"""				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.53+1AAG>-	7.37:g.102119257_102119259delCTT		1364	A5D6V8|O43375	Splice_Site	DEL	-	e2-1	ENST00000292614.5	37	c.53+3_53+1	CCDS5724.1	7																																																																																			POLR2J	-	-	ENSG00000005075		0.685	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2J	HGNC	protein_coding	OTTHUMT00000317913.1	22	0.00	0	CTT	NM_006234	In_Frame_Del	102119254	102119256	-1	no_errors	ENST00000393794	ensembl	human	known	69_37n	splice_site_del	4	33.33	2	DEL	1.000:1.000:1.000	-
PTPRC	5788	genome.wustl.edu	37	1	198697545	198697545	+	Silent	SNP	C	C	T			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr1:198697545C>T	ENST00000367376.2	+	16	1962	c.1791C>T	c.(1789-1791)taC>taT	p.Y597Y	PTPRC_ENST00000348564.6_Silent_p.Y438Y|PTPRC_ENST00000594404.1_Silent_p.Y436Y|PTPRC_ENST00000352140.3_Silent_p.Y549Y|PTPRC_ENST00000442510.2_Silent_p.Y599Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	597					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGTTCTCTACAAAATCTATG	0.303																																						dbGAP											0													106.0	111.0	109.0					1																	198697545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1791C>T	1.37:g.198697545C>T			A8K7W6|Q16614|Q9H0Y6	Silent	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Y599	ENST00000367376.2	37	c.1797		1																																																																																			PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.303	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		76	0.00	0	C			198697545	198697545	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	silent	42	32.26	20	SNP	0.998	T
SAMHD1	25939	genome.wustl.edu	37	20	35533890	35533890	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr20:35533890C>G	ENST00000262878.4	-	12	1486	c.1287G>C	c.(1285-1287)gaG>gaC	p.E429D		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	429					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGTATAAAATCTCCAGAAAAA	0.303																																						dbGAP											0													75.0	74.0	74.0					20																	35533890		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1287G>C	20.37:g.35533890C>G	ENSP00000262878:p.Glu429Asp		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.E429D	ENST00000262878.4	37	c.1287	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212302	0.39102	.	.	ENSG00000101347	ENST00000262878	D	0.95205	-3.64	5.29	4.32	0.51571	.	0.212494	0.49305	D	0.000150	D	0.90854	0.7127	M	0.72479	2.2	0.80722	D	1	B	0.23128	0.08	B	0.17098	0.017	D	0.84961	0.0877	10	0.33141	T	0.24	-14.1246	2.9596	0.05888	0.1553:0.5544:0.15:0.1403	.	429	Q9Y3Z3	SAMH1_HUMAN	D	429	ENSP00000262878:E429D	ENSP00000262878:E429D	E	-	3	2	SAMHD1	34967304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.715000	0.25822	2.757000	0.94681	0.462000	0.41574	GAG	SAMHD1	-	NULL	ENSG00000101347		0.303	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	HGNC	protein_coding	OTTHUMT00000079062.2	48	0.00	0	C	NM_015474		35533890	35533890	-1	no_errors	ENST00000262878	ensembl	human	known	69_37n	missense	76	10.59	9	SNP	1.000	G
SLCO1C1	53919	genome.wustl.edu	37	12	20905442	20905442	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr12:20905442G>A	ENST00000266509.2	+	15	2487	c.2119G>A	c.(2119-2121)Ggc>Agc	p.G707S	SLCO1C1_ENST00000545604.1_3'UTR|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G658S|SLCO1C1_ENST00000545102.1_3'UTR|SLCO1C1_ENST00000381552.1_3'UTR	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	707					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CTACTGGCCAGGCAAGGAAAC	0.348																																						dbGAP											0													76.0	70.0	72.0					12																	20905442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.2119G>A	12.37:g.20905442G>A	ENSP00000266509:p.Gly707Ser		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.G707S	ENST00000266509.2	37	c.2119	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785740	0.49997	.	.	ENSG00000139155	ENST00000540354;ENST00000266509	T;T	0.37058	1.26;1.22	5.44	4.53	0.55603	.	.	.	.	.	T	0.15003	0.0362	N	0.08118	0	0.80722	D	1	P;B	0.38922	0.651;0.021	B;B	0.30943	0.122;0.012	T	0.09228	-1.0684	9	0.07030	T	0.85	.	13.3316	0.60490	0.0:0.1587:0.8413:0.0	.	658;707	B7Z3Q3;Q9NYB5	.;SO1C1_HUMAN	S	658;707	ENSP00000438665:G658S;ENSP00000266509:G707S	ENSP00000266509:G707S	G	+	1	0	SLCO1C1	20796709	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.357000	0.52277	1.492000	0.48499	0.655000	0.94253	GGC	SLCO1C1	-	NULL	ENSG00000139155		0.348	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	38	0.00	0	G	NM_017435		20905442	20905442	+1	no_errors	ENST00000266509	ensembl	human	known	69_37n	missense	40	25.45	14	SNP	1.000	A
TMCC2	9911	genome.wustl.edu	37	1	205210727	205210727	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr1:205210727C>T	ENST00000358024.3	+	2	691	c.302C>T	c.(301-303)aCg>aTg	p.T101M	TMCC2_ENST00000545499.1_Missense_Mutation_p.T23M|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	101						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAGCACCAGACGTCTCAGGAT	0.587																																						dbGAP											0													84.0	69.0	74.0					1																	205210727		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.302C>T	1.37:g.205210727C>T	ENSP00000350718:p.Thr101Met		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.T101M	ENST00000358024.3	37	c.302	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	C	9.696	1.153170	0.21371	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.30981	1.51;1.52	4.78	4.78	0.61160	.	1.124900	0.06780	N	0.785175	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B	0.28055	0.199	B	0.22386	0.039	T	0.08229	-1.0732	10	0.87932	D	0	.	10.3715	0.44058	0.1476:0.7092:0.1432:0.0	.	101	O75069	TMCC2_HUMAN	M	101;23	ENSP00000350718:T101M;ENSP00000437943:T23M	ENSP00000350718:T101M	T	+	2	0	TMCC2	203477350	0.027000	0.19231	0.977000	0.42913	0.545000	0.35147	0.806000	0.27126	2.360000	0.80028	0.462000	0.41574	ACG	TMCC2	-	NULL	ENSG00000133069		0.587	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	13	0.00	0	C	NM_014858		205210727	205210727	+1	no_errors	ENST00000358024	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.261	T
TP53	7157	genome.wustl.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R	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	193	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 LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)	TCGGATAAGATGCTGAGGAGG	0.562		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"""	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	GRCh37	CM083194|CM951225	TP53	M							97.0	87.0	90.0					17																	7578271		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.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg		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.H193R	ENST00000269305.4	37	c.578	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	47	0.00	0	T	NM_000546		7578271	7578271	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	0.998	C
UBR2	23304	genome.wustl.edu	37	6	42585066	42585066	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr6:42585066C>T	ENST00000372899.1	+	11	1529	c.1271C>T	c.(1270-1272)gCa>gTa	p.A424V	UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372901.1_Intron|UBR2_ENST00000372903.2_Intron	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	424					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTCTTCACCGCACCTACTCTG	0.453																																						dbGAP											0													132.0	116.0	121.0					6																	42585066		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1271C>T	6.37:g.42585066C>T	ENSP00000361990:p.Ala424Val		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.A424V	ENST00000372899.1	37	c.1271	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	C	5.866	0.343986	0.11126	.	.	ENSG00000024048	ENST00000372899	T	0.44881	0.91	4.95	4.95	0.65309	.	.	.	.	.	T	0.02047	0.0064	N	0.00021	-2.755	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48269	-0.9050	9	0.09843	T	0.71	.	6.7514	0.23489	0.0:0.7769:0.0:0.2231	.	424	Q8IWV8	UBR2_HUMAN	V	424	ENSP00000361990:A424V	ENSP00000361990:A424V	A	+	2	0	UBR2	42693044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.775000	0.55349	2.465000	0.83290	0.655000	0.94253	GCA	UBR2	-	NULL	ENSG00000024048		0.453	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	55	0.00	0	C	NM_015255		42585066	42585066	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	1.000	T
WNT7A	7476	genome.wustl.edu	37	3	13896211	13896211	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr3:13896211C>T	ENST00000285018.4	-	3	692	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	130					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCCACAGTCGCTCAGGTTG	0.667																																						dbGAP											0													103.0	93.0	97.0					3																	13896211		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.388G>A	3.37:g.13896211C>T	ENSP00000285018:p.Asp130Asn		Q96H90|Q9Y560	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.D130N	ENST00000285018.4	37	c.388	CCDS2616.1	3	.	.	.	.	.	.	.	.	.	.	C	8.297	0.819125	0.16607	.	.	ENSG00000154764	ENST00000285018	T	0.75704	-0.96	5.38	5.38	0.77491	.	0.105627	0.64402	D	0.000005	T	0.53384	0.1793	N	0.05383	-0.06	0.53688	D	0.999973	B	0.11235	0.004	B	0.10450	0.005	T	0.50792	-0.8786	10	0.18276	T	0.48	.	12.4819	0.55847	0.0:0.9239:0.0:0.0761	.	130	O00755	WNT7A_HUMAN	N	130	ENSP00000285018:D130N	ENSP00000285018:D130N	D	-	1	0	WNT7A	13871212	0.999000	0.42202	1.000000	0.80357	0.209000	0.24338	2.130000	0.42064	2.528000	0.85240	0.561000	0.74099	GAC	WNT7A	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000154764		0.667	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7A	HGNC	protein_coding	OTTHUMT00000252031.2	29	0.00	0	C	NM_004625		13896211	13896211	-1	no_errors	ENST00000285018	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
ZBTB7C	201501	genome.wustl.edu	37	18	45566387	45566388	+	Missense_Mutation	DNP	CT	CT	TG			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr18:45566387_45566388CT>TG	ENST00000588982.1	-	3	1592_1593	c.1091_1092AG>CA	c.(1090-1092)cAG>cCA	p.Q364P	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.Q364P|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.Q364P|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.Q364P|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.Q364P			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	364							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGGCACTGCTGAGAGGCCTT	0.619																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1091_1092delinsTG	18.37:g.45566387_45566388delinsTG	ENSP00000468782:p.Gln364Pro		O73453	Silent|Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q364|p.Q364P	ENST00000588982.1	37	c.1092|c.1091	CCDS32830.1	18																																																																																			ZBTB7C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184828		0.619	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1	18|17	0.00	0	C|T	NM_001039360		45566387|45566388	45566387|45566388	-1	no_errors	ENST00000332053	ensembl	human	known	69_37n	silent|missense	7	46.15	6	SNP	1.000	T|G
ZNF804B	219578	genome.wustl.edu	37	7	88963249	88963249	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1N5-01A-11D-A14G-09	TCGA-E9-A1N5-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	432a9f5e-0f2a-4cd2-a910-ee9ee30c1ff3	1fee18d6-ef4c-4d28-a30b-874845f32193	g.chr7:88963249T>C	ENST00000333190.4	+	4	1562	c.953T>C	c.(952-954)aTt>aCt	p.I318T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	318							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAAGATTCAATTGGCATTCAT	0.343										HNSCC(36;0.09)																												dbGAP											0													45.0	46.0	46.0					7																	88963249		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.953T>C	7.37:g.88963249T>C	ENSP00000329638:p.Ile318Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.I318T	ENST00000333190.4	37	c.953	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	0.191	-1.053374	0.01965	.	.	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.05	-4.85	0.03142	.	0.632230	0.14637	N	0.307459	T	0.01870	0.0059	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.45425	-0.9262	10	0.02654	T	1	-0.0061	3.1886	0.06609	0.1938:0.4105:0.1052:0.2906	.	318	A4D1E1	Z804B_HUMAN	T	318	ENSP00000329638:I318T	ENSP00000329638:I318T	I	+	2	0	ZNF804B	88801185	0.000000	0.05858	0.000000	0.03702	0.631000	0.37964	-0.330000	0.07925	-1.165000	0.02786	0.533000	0.62120	ATT	ZNF804B	-	NULL	ENSG00000182348		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	20	0.00	0	T	NM_181646		88963249	88963249	+1	no_errors	ENST00000333190	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.000	C
