#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
LDLRAD4	753	genome.wustl.edu	37	18	13438301	13438301	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr18:13438301C>A	ENST00000359446.5	+	3	567	c.99C>A	c.(97-99)aaC>aaA	p.N33K	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.N33K|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.N33K	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	33	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										TGGTCTGTAACCAACAGAACG	0.498																																						dbGAP											0													133.0	125.0	127.0					18																	13438301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.99C>A	18.37:g.13438301C>A	ENSP00000352420:p.Asn33Lys		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.N33K	ENST00000359446.5	37	c.99	CCDS32793.1	18	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174473	0.78452	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	D;D	0.96041	-3.89;-3.89	5.22	3.42	0.39159	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.501903	0.20380	N	0.093462	D	0.95793	0.8631	M	0.86573	2.825	0.80722	D	1	P;P	0.44380	0.801;0.834	B;P	0.44477	0.322;0.451	D	0.95547	0.8617	10	0.72032	D	0.01	-9.5826	11.9199	0.52785	0.0:0.8563:0.0:0.1437	.	33;33	O15165-2;O15165	.;CR001_HUMAN	K	33	ENSP00000354753:N33K;ENSP00000382741:N33K	ENSP00000354753:N33K	N	+	3	2	C18orf1	13428301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.589000	0.46145	1.207000	0.43291	0.655000	0.94253	AAC	C18orf1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168675		0.498	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf1	HGNC	protein_coding	OTTHUMT00000458326.1	70	0.00	0	C	NM_181481		13438301	13438301	+1	no_errors	ENST00000359446	ensembl	human	known	69_37n	missense	42	48.78	40	SNP	1.000	A
CACNA1A	773	genome.wustl.edu	37	19	13370458	13370458	+	Silent	SNP	C	C	T			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr19:13370458C>T	ENST00000360228.5	-	27	4307	c.4308G>A	c.(4306-4308)aaG>aaA	p.K1436K	CACNA1A_ENST00000573710.2_Silent_p.K1437K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1437					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTCATACTTCTTCCACTCCC	0.542																																						dbGAP											0													60.0	64.0	62.0					19																	13370458		1996	4148	6144	-	-	-	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4308G>A	19.37:g.13370458C>T			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.K1436	ENST00000360228.5	37	c.4308	CCDS45998.1	19																																																																																			CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.542	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	81	0.00	0	C	NM_000068		13370458	13370458	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	silent	59	37.89	36	SNP	1.000	T
CCDC43	124808	genome.wustl.edu	37	17	42766938	42766938	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr17:42766938C>T	ENST00000315286.8	-	1	192	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CCDC43_ENST00000457422.2_Missense_Mutation_p.G62R|CCDC43_ENST00000588210.1_Missense_Mutation_p.G62R	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	62										lung(2)	2		Prostate(33;0.0322)				GAGAGGATCCCCTGCAGAGCG	0.577																																						dbGAP											0													60.0	70.0	67.0					17																	42766938		2013	4184	6197	-	-	-	SO:0001583	missense	0			AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.184G>A	17.37:g.42766938C>T	ENSP00000323782:p.Gly62Arg		C9JVK9	Missense_Mutation	SNP	NULL	p.G62R	ENST00000315286.8	37	c.184	CCDS45704.1	17	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798091	0.50208	.	.	ENSG00000180329	ENST00000315286;ENST00000457422	.	.	.	5.25	0.793	0.18632	.	0.000000	0.85682	D	0.000000	T	0.69788	0.3150	M	0.85542	2.76	0.80722	D	1	D;D	0.63046	0.992;0.977	P;P	0.62298	0.9;0.847	T	0.67425	-0.5674	9	0.87932	D	0	-4.8846	5.4589	0.16606	0.259:0.5466:0.1251:0.0692	.	62;62	Q96MW1-2;Q96MW1	.;CCD43_HUMAN	R	62	.	ENSP00000323782:G62R	G	-	1	0	CCDC43	40122464	1.000000	0.71417	0.606000	0.28943	0.054000	0.15201	2.523000	0.45580	0.044000	0.15775	-0.274000	0.10170	GGG	CCDC43	-	NULL	ENSG00000180329		0.577	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	HGNC	protein_coding	OTTHUMT00000457812.1	53	0.00	0	C	NM_144609		42766938	42766938	-1	no_errors	ENST00000315286	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	1.000	T
E2F1	1869	genome.wustl.edu	37	20	32265318	32265318	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr20:32265318G>A	ENST00000343380.5	-	5	893	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	252	Dimerization. {ECO:0000255}.|Required for interaction with TRIM28.		R -> H (in dbSNP:rs3213172). {ECO:0000269|Ref.5}.		anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R252C(1)		NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GCAATGCTACGAAGGTCCTGA	0.562																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											99.0	86.0	91.0					20																	32265318		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.754C>T	20.37:g.32265318G>A	ENSP00000345571:p.Arg252Cys		Q13143|Q92768	Missense_Mutation	SNP	pfam_E2F_TDP	p.R252C	ENST00000343380.5	37	c.754	CCDS13224.1	20	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350859	0.61183	.	.	ENSG00000101412	ENST00000343380	T	0.53423	0.62	5.02	5.02	0.67125	.	0.126644	0.52532	D	0.000080	T	0.61311	0.2337	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.60702	-0.7211	10	0.48119	T	0.1	-3.5155	18.1252	0.89583	0.0:0.0:1.0:0.0	.	252	Q01094	E2F1_HUMAN	C	252	ENSP00000345571:R252C	ENSP00000345571:R252C	R	-	1	0	E2F1	31728979	1.000000	0.71417	0.990000	0.47175	0.939000	0.58152	5.946000	0.70234	2.608000	0.88229	0.462000	0.41574	CGT	E2F1	-	NULL	ENSG00000101412		0.562	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	53	0.00	0	G			32265318	32265318	-1	no_errors	ENST00000343380	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	0.741	A
INTS12	57117	genome.wustl.edu	37	4	106604454	106604454	+	Silent	SNP	T	T	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr4:106604454T>A	ENST00000451321.2	-	7	1304	c.825A>T	c.(823-825)ggA>ggT	p.G275G	INTS12_ENST00000340139.5_Silent_p.G275G|INTS12_ENST00000394735.1_Silent_p.G275G	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	275	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TAGAAGAATTTCCTGAAATAA	0.388																																						dbGAP											0													23.0	25.0	24.0					4																	106604454		2197	4292	6489	-	-	-	SO:0001819	synonymous_variant	0				CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.825A>T	4.37:g.106604454T>A			B2RC48|Q3B6Z3|Q9HD71	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G275	ENST00000451321.2	37	c.825	CCDS3671.1	4																																																																																			INTS12	-	NULL	ENSG00000138785		0.388	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	INTS12	HGNC	protein_coding	OTTHUMT00000318624.1	38	0.00	0	T	NM_020395		106604454	106604454	-1	no_errors	ENST00000340139	ensembl	human	known	69_37n	silent	5	68.75	11	SNP	1.000	A
ITGB2	3689	genome.wustl.edu	37	21	46309941	46309941	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr21:46309941C>T	ENST00000397850.2	-	13	2061	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ITGB2_ENST00000397857.1_Missense_Mutation_p.D537N|ITGB2_ENST00000355153.4_Missense_Mutation_p.D537N|ITGB2_ENST00000397854.3_Missense_Mutation_p.D480N|ITGB2_ENST00000302347.5_Missense_Mutation_p.D537N|ITGB2_ENST00000397852.1_Missense_Mutation_p.D537N			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	537	Cysteine-rich tandem repeats.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTGATGGTGTCACACTCGCAG	0.657																																						dbGAP											0													90.0	78.0	82.0					21																	46309941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1609G>A	21.37:g.46309941C>T	ENSP00000380948:p.Asp537Asn		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.D537N	ENST00000397850.2	37	c.1609	CCDS13716.1	21	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100541	0.37048	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	5.29	3.5	0.40072	.	.	.	.	.	D	0.95345	0.8489	L	0.47078	1.49	0.58432	D	0.999999	P;P	0.47841	0.78;0.901	B;B	0.42625	0.393;0.284	D	0.92974	0.6400	9	0.54805	T	0.06	.	9.9133	0.41419	0.0:0.8323:0.0:0.1677	.	480;537	A8MYE6;P05107	.;ITB2_HUMAN	N	537;537;480;537;537;537	ENSP00000380950:D537N;ENSP00000380955:D537N;ENSP00000380952:D480N;ENSP00000347279:D537N;ENSP00000380948:D537N;ENSP00000303242:D537N	ENSP00000303242:D537N	D	-	1	0	ITGB2	45134369	0.992000	0.36948	0.318000	0.25279	0.028000	0.11728	3.010000	0.49559	0.625000	0.30304	-0.137000	0.14449	GAC	ITGB2	-	pirsf_Integrin_bsu	ENSG00000160255		0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	30	0.00	0	C	NM_000211		46309941	46309941	-1	no_errors	ENST00000302347	ensembl	human	known	69_37n	missense	21	46.15	18	SNP	0.998	T
KIF4A	24137	genome.wustl.edu	37	X	69521827	69521827	+	Silent	SNP	G	G	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chrX:69521827G>A	ENST00000374403.3	+	6	676	c.594G>A	c.(592-594)agG>agA	p.R198R	KIF4A_ENST00000374388.3_Silent_p.R198R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	198	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAACTCTAGGACTGTGGCCT	0.433																																						dbGAP											0													126.0	104.0	111.0					X																	69521827		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.594G>A	X.37:g.69521827G>A			B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R198	ENST00000374403.3	37	c.594	CCDS14401.1	X																																																																																			KIF4A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000090889		0.433	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	148	0.00	0	G	NM_012310		69521827	69521827	+1	no_errors	ENST00000374403	ensembl	human	known	69_37n	silent	63	42.20	46	SNP	0.999	A
LOXL2	4017	genome.wustl.edu	37	8	23174487	23174487	+	Silent	SNP	G	G	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr8:23174487G>A	ENST00000389131.3	-	9	1980	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	537	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTCCGGCCCCGTACTGCACTC	0.657																																						dbGAP											0													55.0	49.0	51.0					8																	23174487		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1611C>T	8.37:g.23174487G>A			B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.Y537	ENST00000389131.3	37	c.1611	CCDS34864.1	8																																																																																			LOXL2	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000134013		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	43	0.00	0	G			23174487	23174487	-1	no_errors	ENST00000389131	ensembl	human	known	69_37n	silent	14	51.72	15	SNP	0.001	A
LRRD1	401387	genome.wustl.edu	37	7	91793911	91793911	+	Silent	SNP	T	T	C			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr7:91793911T>C	ENST00000458448.1	-	2	806	c.606A>G	c.(604-606)tcA>tcG	p.S202S	CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000454089.2_5'UTR|LRRD1_ENST00000430130.2_Silent_p.S202S|LRRD1_ENST00000343318.5_Intron			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	202					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						CAGATGGAAGTGATGATAATC	0.323																																						dbGAP											0													32.0	27.0	29.0					7																	91793911		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.606A>G	7.37:g.91793911T>C			B7ZMM9|Q49AT9	Silent	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.S202	ENST00000458448.1	37	c.606	CCDS55124.1	7																																																																																			LRRD1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000240720		0.323	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	51	0.00	0	T	NM_001045475		91793911	91793911	-1	no_errors	ENST00000430130	ensembl	human	known	69_37n	silent	17	43.33	13	SNP	0.002	C
PCGF3	10336	genome.wustl.edu	37	4	728744	728744	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr4:728744A>T	ENST00000362003.5	+	5	529	c.134A>T	c.(133-135)tAc>tTc	p.Y45F	PCGF3_ENST00000505655.2_Missense_Mutation_p.Y45F|PCGF3_ENST00000470161.2_Missense_Mutation_p.Y45F|PCGF3_ENST00000521023.2_Missense_Mutation_p.Y11F	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CTGGTGAAGTACCTGGAGGAG	0.607																																						dbGAP											0													52.0	60.0	57.0					4																	728744		2057	4197	6254	-	-	-	SO:0001583	missense	0			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.134A>T	4.37:g.728744A>T	ENSP00000354724:p.Tyr45Phe		D3DVN1|O15262	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Y45F	ENST00000362003.5	37	c.134	CCDS3339.2	4	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550558	0.86127	.	.	ENSG00000185619	ENST00000362003;ENST00000427463;ENST00000470161;ENST00000521023;ENST00000433814;ENST00000505655	D;T;D;T;D;D	0.86432	-2.12;-0.29;-2.12;-0.29;-2.12;-2.12	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.31926	0.97	0.50467	D	0.999878	P;D;D	0.58970	0.517;0.976;0.984	P;P;P	0.62014	0.461;0.675;0.897	D	0.88689	0.3207	10	0.49607	T	0.09	-32.4188	13.2848	0.60237	1.0:0.0:0.0:0.0	.	11;11;45	B3KWT8;B3KQ06;Q3KNV8	.;.;PCGF3_HUMAN	F	45;45;45;11;45;45	ENSP00000354724:Y45F;ENSP00000401431:Y45F;ENSP00000420489:Y45F;ENSP00000430393:Y11F;ENSP00000398493:Y45F;ENSP00000423393:Y45F	ENSP00000354724:Y45F	Y	+	2	0	PCGF3	718744	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	8.132000	0.89603	2.026000	0.59711	0.533000	0.62120	TAC	PCGF3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000185619		0.607	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	HGNC	protein_coding	OTTHUMT00000239197.2	31	0.00	0	A	NM_006315		728744	728744	+1	no_errors	ENST00000362003	ensembl	human	known	69_37n	missense	16	40.00	12	SNP	0.999	T
MRPS18C	51023	genome.wustl.edu	37	4	84377236	84377236	+	Silent	SNP	C	C	T			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr4:84377236C>T	ENST00000295491.4	+	1	119	c.6C>T	c.(4-6)gcC>gcT	p.A2A	MRPS18C_ENST00000507349.1_Silent_p.A2A|HELQ_ENST00000295488.3_5'Flank|MRPS18C_ENST00000507019.1_Silent_p.A2A|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000440639.2_5'Flank	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	2					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				GAACCATGGCCGCTGTGGTTG	0.562																																						dbGAP											0													189.0	196.0	194.0					4																	84377236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.6C>T	4.37:g.84377236C>T				Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.R1C	ENST00000295491.4	37	c.1	CCDS3604.1	4	.	.	.	.	.	.	.	.	.	.	C	5.072	0.199022	0.09652	.	.	ENSG00000163319	ENST00000509970	.	.	.	5.02	-10.0	0.00425	.	.	.	.	.	T	0.40670	0.1126	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.77574	-0.2537	4	.	.	.	-12.2571	2.1703	0.03847	0.137:0.2559:0.3103:0.2968	.	.	.	.	C	1	.	.	R	+	1	0	MRPS18C	84596260	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.587000	0.00060	-9.921000	0.00000	-1.812000	0.00611	CGC	MRPS18C	-	NULL	ENSG00000163319		0.562	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18C	HGNC	protein_coding	OTTHUMT00000252820.2	87	0.00	0	C			84377236	84377236	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509970	ensembl	human	putative	69_37n	missense	48	41.46	34	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178921548	178921548	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr3:178921548G>A	ENST00000263967.3	+	5	1187	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	344	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.V344M(6)		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)	TGCAACCTACGTGAATGTAAA	0.308		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"""	6	Substitution - Missense(6)	endometrium(4)|ovary(2)											68.0	68.0	68.0					3																	178921548		1809	4073	5882	-	-	-	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.1030G>A	3.37:g.178921548G>A	ENSP00000263967:p.Val344Met		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.V344M	ENST00000263967.3	37	c.1030	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709120	0.89018	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	D	0.82765	0.5108	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.66196	0.942	T	0.83027	-0.0164	10	0.54805	T	0.06	-22.945	19.5423	0.95278	0.0:0.0:1.0:0.0	.	344	P42336	PK3CA_HUMAN	M	344	ENSP00000263967:V344M	ENSP00000263967:V344M	V	+	1	0	PIK3CA	180404242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.358000	0.97109	2.682000	0.91365	0.491000	0.48974	GTG	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	62	0.00	0	G			178921548	178921548	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	16	50.00	16	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	73	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	31	53.73	36	SNP	1.000	G
RIC8A	60626	genome.wustl.edu	37	11	208907	208908	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr11:208907_208908delTT	ENST00000526104.1	+	1	1397_1398	c.53_54delTT	c.(52-54)attfs	p.I18fs	BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000527696.1_5'Flank|BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000325207.5_Frame_Shift_Del_p.I18fs|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000529614.2_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	18					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGATGTGATTATGGAAGCTC	0.718																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.53_54delTT	11.37:g.208907_208908delTT	ENSP00000432008:p.Ile18fs		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Frame_Shift_Del	DEL	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.I18fs	ENST00000526104.1	37	c.53_54		11																																																																																			RIC8A	-	NULL	ENSG00000177963		0.718	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	9	0.00	0	TT	NM_021932		208907	208908	+1	no_errors	ENST00000325207	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.009:0.009	-
RPUSD4	84881	genome.wustl.edu	37	11	126075478	126075478	+	Silent	SNP	G	G	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr11:126075478G>A	ENST00000298317.4	-	5	734	c.681C>T	c.(679-681)gaC>gaT	p.D227D	RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	227					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTTTCCCATCGTCCATGCGGT	0.562																																						dbGAP											0													120.0	108.0	112.0					11																	126075478		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.681C>T	11.37:g.126075478G>A			E9PML2|Q96K56	Silent	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.D227	ENST00000298317.4	37	c.681	CCDS8469.1	11																																																																																			RPUSD4	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	ENSG00000165526		0.562	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD4	HGNC	protein_coding	OTTHUMT00000386336.1	82	0.00	0	G	NM_032795		126075478	126075478	-1	no_errors	ENST00000298317	ensembl	human	known	69_37n	silent	43	41.89	31	SNP	0.493	A
SARS	6301	genome.wustl.edu	37	1	109774392	109774392	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr1:109774392A>T	ENST00000234677.2	+	6	806	c.731A>T	c.(730-732)gAt>gTt	p.D244V	SARS_ENST00000369923.4_Missense_Mutation_p.D244V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	244					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGCCAGTTTGATGAAGAACTT	0.483																																						dbGAP											0													95.0	83.0	87.0					1																	109774392		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.731A>T	1.37:g.109774392A>T	ENSP00000234677:p.Asp244Val		B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa	p.D244V	ENST00000234677.2	37	c.731	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	a	25.9	4.683107	0.88542	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.77229	-1.08;-1.08	6.08	6.08	0.98989	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	0.999;0.96;1.0;0.999	D;D;D;D	0.85130	0.993;0.94;0.997;0.993	D	0.91146	0.4949	10	0.87932	D	0	-21.5552	16.3172	0.82932	1.0:0.0:0.0:0.0	.	244;244;244;244	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	V	244	ENSP00000234677:D244V;ENSP00000358939:D244V	ENSP00000234677:D244V	D	+	2	0	SARS	109575915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.306000	0.96204	2.333000	0.79357	0.533000	0.62120	GAT	SARS	-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-synth_IIa	ENSG00000031698		0.483	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	95	0.00	0	A	NM_006513		109774392	109774392	+1	no_errors	ENST00000369923	ensembl	human	known	69_37n	missense	45	41.56	32	SNP	1.000	T
SH3KBP1	30011	genome.wustl.edu	37	X	19764522	19764522	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chrX:19764522T>C	ENST00000397821.3	-	3	490	c.200A>G	c.(199-201)aAc>aGc	p.N67S	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.N67S|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.N30S	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	67					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TGGAGCTTTGTTGGTGAGAGG	0.398																																						dbGAP											0													153.0	146.0	149.0					X																	19764522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.200A>G	X.37:g.19764522T>C	ENSP00000380921:p.Asn67Ser		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.N67S	ENST00000397821.3	37	c.200	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	T	8.240	0.806716	0.16467	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234	T;T;T;T;T	0.47528	1.51;1.66;1.36;1.16;0.84	5.84	0.404	0.16355	.	0.859045	0.10883	N	0.623535	T	0.21347	0.0514	N	0.03177	-0.4	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23226	-1.0194	10	0.08179	T	0.78	-5.3872	11.1434	0.48415	0.0:0.756:0.1359:0.1081	.	67;30	Q96B97;Q5JPT5	SH3K1_HUMAN;.	S	8;67;30;3;67;14	ENSP00000380921:N67S;ENSP00000369020:N30S;ENSP00000369049:N3S;ENSP00000369019:N67S;ENSP00000388766:N14S	ENSP00000369019:N67S	N	-	2	0	SH3KBP1	19674443	1.000000	0.71417	0.974000	0.42286	0.933000	0.57130	0.842000	0.27627	-0.383000	0.07858	-0.314000	0.08810	AAC	SH3KBP1	-	NULL	ENSG00000147010		0.398	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	217	0.00	0	T	NM_031892		19764522	19764522	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	missense	97	43.68	76	SNP	0.998	C
SOS2	6655	genome.wustl.edu	37	14	50623747	50623747	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr14:50623747C>T	ENST00000216373.5	-	12	2301	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.R643H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	676	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATATTCCTTGCGAAATCTTTT	0.363																																						dbGAP											0													82.0	69.0	73.0					14																	50623747		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2027G>A	14.37:g.50623747C>T	ENSP00000216373:p.Arg676His		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R676H	ENST00000216373.5	37	c.2027	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803068	0.70682	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.30448	1.53;1.53	4.95	4.04	0.47022	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.81497	2.545	0.80722	D	1	D;P;P	0.60160	0.987;0.949;0.799	P;P;B	0.51266	0.664;0.478;0.198	T	0.59632	-0.7418	10	0.87932	D	0	.	15.5287	0.75932	0.0:0.8612:0.1387:0.0	.	643;706;676	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	H	676;643	ENSP00000216373:R676H;ENSP00000445328:R643H	ENSP00000216373:R676H	R	-	2	0	SOS2	49693497	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.762000	0.85270	1.181000	0.42912	0.585000	0.79938	CGC	SOS2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000100485		0.363	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	126	0.00	0	C			50623747	50623747	-1	no_errors	ENST00000216373	ensembl	human	known	69_37n	missense	54	37.93	33	SNP	1.000	T
TGS1	96764	genome.wustl.edu	37	8	56698879	56698879	+	Missense_Mutation	SNP	C	C	A	rs150487458		TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr8:56698879C>A	ENST00000260129.5	+	4	899	c.422C>A	c.(421-423)tCt>tAt	p.S141Y		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	141					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTGCAAGAATCTTGGAGAAAA	0.284																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													38.0	39.0	39.0					8																	56698879		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.422C>A	8.37:g.56698879C>A	ENSP00000260129:p.Ser141Tyr		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.S141Y	ENST00000260129.5	37	c.422	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174342	0.57692	.	.	ENSG00000137574	ENST00000260129	T	0.19532	2.14	5.79	4.91	0.64330	.	0.516920	0.19548	N	0.111626	T	0.30854	0.0778	M	0.68317	2.08	0.23657	N	0.997186	P;D	0.56521	0.947;0.976	P;P	0.47744	0.556;0.556	T	0.17440	-1.0369	10	0.54805	T	0.06	-3.998	12.7753	0.57443	0.1227:0.7447:0.1326:0.0	.	141;141	B2RBJ7;Q96RS0	.;TGS1_HUMAN	Y	141	ENSP00000260129:S141Y	ENSP00000260129:S141Y	S	+	2	0	TGS1	56861433	0.161000	0.22892	0.993000	0.49108	0.994000	0.84299	1.581000	0.36558	1.423000	0.47198	0.655000	0.94253	TCT	TGS1	-	NULL	ENSG00000137574		0.284	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	68	0.00	0	C	NM_024831		56698879	56698879	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	missense	16	52.94	18	SNP	0.587	A
THUMPD3	25917	genome.wustl.edu	37	3	9425945	9425945	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr3:9425945G>A	ENST00000345094.3	+	9	1619	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	SETD5-AS1_ENST00000519043.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.E429K|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.E429K|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	429						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTGCCTACGGGAGATGAGCCG	0.433																																						dbGAP											0													201.0	208.0	206.0					3																	9425945		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1285G>A	3.37:g.9425945G>A	ENSP00000339532:p.Glu429Lys		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP	p.E429K	ENST00000345094.3	37	c.1285	CCDS2573.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.736386|5.736386	0.96865|0.96865	.|.	.|.	ENSG00000134077|ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662|ENST00000416603	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Putative RNA methylase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87609|0.87609	0.6220|0.6220	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.90481|0.90481	0.4460|0.4460	10|5	0.56958|.	D|.	0.05|.	-11.2836|-11.2836	19.3461|19.3461	0.94363|0.94363	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	429|.	Q9BV44|.	THUM3_HUMAN|.	K|E	429|199	ENSP00000395893:E429K;ENSP00000339532:E429K;ENSP00000424064:E429K|.	ENSP00000339532:E429K|.	E|G	+|+	1|2	0|0	THUMPD3|THUMPD3	9400945|9400945	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.934000|0.934000	0.57294|0.57294	9.635000|9.635000	0.98437|0.98437	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	GAG|GGA	THUMPD3	-	pfam_RNA_methylase_dom	ENSG00000134077		0.433	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD3	HGNC	protein_coding	OTTHUMT00000214127.1	44	0.00	0	G	NM_015453		9425945	9425945	+1	no_errors	ENST00000345094	ensembl	human	known	69_37n	missense	18	61.70	29	SNP	1.000	A
TRIM17	51127	genome.wustl.edu	37	1	228596888	228596888	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JS-01A-11D-A13L-09	TCGA-D8-A1JS-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4a9181d0-d3df-4791-99f0-4db076c22a3a	17253519-13c8-4fa7-a2e0-10173cd9f7db	g.chr1:228596888G>C	ENST00000366697.2	-	5	1824	c.868C>G	c.(868-870)Cta>Gta	p.L290V	TRIM17_ENST00000366698.2_Missense_Mutation_p.L290V|TRIM17_ENST00000295033.3_Missense_Mutation_p.L290V|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000456946.2_Missense_Mutation_p.L290V|TRIM11_ENST00000366699.3_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	290	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AAGCCTCTTAGCACTTCAATC	0.602																																						dbGAP											0													131.0	131.0	131.0					1																	228596888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.868C>G	1.37:g.228596888G>C	ENSP00000355658:p.Leu290Val		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L290V	ENST00000366697.2	37	c.868	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095581	0.36952	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;0.59;0.51	4.59	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.37530	N	0.002056	T	0.76198	0.3954	M	0.67569	2.06	0.31539	N	0.660195	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.875	T	0.79027	-0.1971	10	0.72032	D	0.01	.	13.6395	0.62241	0.0:0.0:1.0:0.0	.	290;290	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	V	290;290;290;290;263	ENSP00000355658:L290V;ENSP00000355659:L290V;ENSP00000295033:L290V;ENSP00000403312:L290V;ENSP00000430468:L263V	ENSP00000295033:L290V	L	-	1	2	TRIM17	226663511	0.993000	0.37304	0.980000	0.43619	0.005000	0.04900	3.860000	0.55995	2.469000	0.83416	0.563000	0.77884	CTA	TRIM17	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000162931		0.602	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	69	0.00	0	G	NM_016102		228596888	228596888	-1	no_errors	ENST00000295033	ensembl	human	known	69_37n	missense	33	52.78	38	SNP	0.998	C
