#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
ABCA9	10350	genome.wustl.edu	37	17	66981200	66981200	+	Silent	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr17:66981200C>T	ENST00000340001.4	-	33	4489	c.4278G>A	c.(4276-4278)aaG>aaA	p.K1426K	ABCA9_ENST00000453985.2_Silent_p.K1388K|ABCA9_ENST00000370732.2_Silent_p.K1426K|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1426	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTACCTTTCGCTTTATTCCCT	0.537																																						dbGAP											0													135.0	116.0	123.0					17																	66981200		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4278G>A	17.37:g.66981200C>T			Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K1426	ENST00000340001.4	37	c.4278	CCDS11681.1	17																																																																																			ABCA9	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154258		0.537	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	604	0.00	0	C	NM_172386		66981200	66981200	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	silent	436	23.64	135	SNP	0.991	T
ADCY6	112	genome.wustl.edu	37	12	49176644	49176644	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr12:49176644C>G	ENST00000307885.4	-	1	1268	c.574G>C	c.(574-576)Gtg>Ctg	p.V192L	ADCY6_ENST00000550422.1_Missense_Mutation_p.V192L|ADCY6_ENST00000357869.3_Missense_Mutation_p.V192L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	192					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ATGAGCCCCACGAACAGGGCG	0.672																																						dbGAP											0													43.0	43.0	43.0					12																	49176644		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.574G>C	12.37:g.49176644C>G	ENSP00000311405:p.Val192Leu		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V192L	ENST00000307885.4	37	c.574	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.449616	0.00175	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.74526	-0.85;-0.85;-0.85	5.36	3.42	0.39159	.	0.343708	0.26366	N	0.024781	T	0.44644	0.1303	N	0.01800	-0.715	0.21064	N	0.999795	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.005	T	0.25537	-1.0129	10	0.10111	T	0.7	.	11.148	0.48442	0.1185:0.557:0.3245:0.0	.	192;192	O43306-2;O43306	.;ADCY6_HUMAN	L	192	ENSP00000350536:V192L;ENSP00000446730:V192L;ENSP00000311405:V192L	ENSP00000311405:V192L	V	-	1	0	ADCY6	47462911	0.002000	0.14202	0.364000	0.25888	0.144000	0.21451	-0.163000	0.09997	0.651000	0.30788	-1.943000	0.00494	GTG	ADCY6	-	NULL	ENSG00000174233		0.672	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	43	0.00	0	C	NM_020983		49176644	49176644	-1	no_errors	ENST00000307885	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.188	G
ADRBK1	156	genome.wustl.edu	37	11	67051331	67051331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr11:67051331delC	ENST00000308595.5	+	17	1692	c.1402delC	c.(1402-1404)cccfs	p.P469fs	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	469	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCAGTACCCTCCCCCGCTGAT	0.617																																						dbGAP											0													32.0	34.0	33.0					11																	67051331		2197	4295	6492	-	-	-	SO:0001589	frameshift_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1402delC	11.37:g.67051331delC	ENSP00000312262:p.Pro469fs		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.P469fs	ENST00000308595.5	37	c.1402	CCDS8156.1	11																																																																																			ADRBK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase	ENSG00000173020		0.617	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	16	0.00	0	C	NM_001619		67051331	67051331	+1	no_errors	ENST00000308595	ensembl	human	known	69_37n	frame_shift_del	13	26.32	5	DEL	1.000	-
API5	8539	genome.wustl.edu	37	11	43364082	43364082	+	3'UTR	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr11:43364082G>A	ENST00000531273.1	+	0	1736				API5_ENST00000455725.2_3'UTR|API5_ENST00000378852.3_3'UTR|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000420461.2_3'UTR|API5_ENST00000534695.1_Missense_Mutation_p.S84N			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GCATTCTTCAGCATTGTCATG	0.458																																					Pancreas(1;98 122 5625 20895 49453)	dbGAP											0													39.0	40.0	40.0					11																	43364082		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.*22G>A	11.37:g.43364082G>A			B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	pfam_API5,superfamily_ARM-type_fold	p.S84N	ENST00000531273.1	37	c.251	CCDS44572.1	11	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.286755	0.01387	.	.	ENSG00000166181	ENST00000534695	.	.	.	5.61	2.69	0.31865	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55592	-0.8117	5	0.72032	D	0.01	.	2.125	0.03736	0.2219:0.1251:0.5079:0.1451	.	.	.	.	N	84	.	ENSP00000436189:S84N	S	+	2	0	API5	43320658	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.678000	0.46900	0.395000	0.25257	-0.384000	0.06662	AGC	API5	-	NULL	ENSG00000166181		0.458	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	295	0.00	0	G	NM_006595		43364082	43364082	+1	no_errors	ENST00000534695	ensembl	human	putative	69_37n	missense	329	10.84	40	SNP	0.992	A
ASXL2	55252	genome.wustl.edu	37	2	25973203	25973203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr2:25973203G>A	ENST00000435504.4	-	12	1515	c.1222C>T	c.(1222-1224)Caa>Taa	p.Q408*	ASXL2_ENST00000336112.4_Nonsense_Mutation_p.Q380*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.Q148*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.Q148*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	408					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTTTGGTTGTTCAGCTGGG	0.428																																						dbGAP											0													222.0	210.0	214.0					2																	25973203		1841	4094	5935	-	-	-	SO:0001587	stop_gained	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1222C>T	2.37:g.25973203G>A	ENSP00000391447:p.Gln408*		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.Q408*	ENST00000435504.4	37	c.1222		2	.	.	.	.	.	.	.	.	.	.	G	45	11.905146	0.99616	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	6.08	6.08	0.98989	.	0.329473	0.32444	N	0.006086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-5.435	19.2359	0.93858	0.0:0.0:1.0:0.0	.	.	.	.	X	408;380;148;148	.	ENSP00000272341:Q148X	Q	-	1	0	ASXL2	25826707	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.106000	0.57804	2.894000	0.99253	0.591000	0.81541	CAA	ASXL2	-	NULL	ENSG00000143970		0.428	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	321	0.00	0	G	NM_018263		25973203	25973203	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	nonsense	342	12.72	50	SNP	1.000	A
C3orf58	205428	genome.wustl.edu	37	3	143708575	143708575	+	Silent	SNP	C	C	G	rs200917726		TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr3:143708575C>G	ENST00000315691.3	+	3	1720	c.1185C>G	c.(1183-1185)ctC>ctG	p.L395L	C3orf58_ENST00000495414.1_Silent_p.L186L|C3orf58_ENST00000441925.2_Silent_p.L157L|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	395					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGCCGGCTCGAGGCCTTGC	0.507																																						dbGAP											0													91.0	93.0	92.0					3																	143708575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1185C>G	3.37:g.143708575C>G			B2RCF2|B7Z1W3	Silent	SNP	NULL	p.L395	ENST00000315691.3	37	c.1185	CCDS3130.1	3																																																																																			C3orf58	-	NULL	ENSG00000181744		0.507	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf58	HGNC	protein_coding	OTTHUMT00000355038.1	93	0.00	0	C	NM_173552		143708575	143708575	+1	no_errors	ENST00000315691	ensembl	human	known	69_37n	silent	94	18.97	22	SNP	0.015	G
CAMTA2	23125	genome.wustl.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.A890fs	ENST00000348066.3	37	c.2667_2666	CCDS11063.1	17																																																																																			CAMTA2	-	NULL	ENSG00000108509		0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	37	0.00	0	-	NM_015099		4875737	4875738	-1	no_errors	ENST00000414043	ensembl	human	known	69_37n	frame_shift_ins	41	10.87	5	INS	0.999:1.000	G
DRD2	1813	genome.wustl.edu	37	11	113286299	113286299	+	Silent	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr11:113286299G>A	ENST00000362072.3	-	5	911	c.567C>T	c.(565-567)ttC>ttT	p.F189F	DRD2_ENST00000542968.1_Silent_p.F189F|DRD2_ENST00000355319.2_Silent_p.F189F|DRD2_ENST00000538967.1_Silent_p.F189F|DRD2_ENST00000544518.1_Silent_p.F188F|DRD2_ENST00000346454.3_Silent_p.F189F|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	189					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.F189F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTAGACCACGAAGGCCGGGT	0.602																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											156.0	119.0	132.0					11																	113286299		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.567C>T	11.37:g.113286299G>A			Q9NZR3|Q9UPA9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.F189	ENST00000362072.3	37	c.567	CCDS8361.1	11																																																																																			DRD2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000149295		0.602	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	502	0.00	0	G	NM_000795		113286299	113286299	-1	no_errors	ENST00000355319	ensembl	human	known	69_37n	silent	608	13.11	92	SNP	0.903	A
AGO1	26523	genome.wustl.edu	37	1	36372581	36372581	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr1:36372581G>A	ENST00000373204.4	+	12	1656	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	AGO1_ENST00000373206.1_Missense_Mutation_p.M406I	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	481					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ATGCGGGGATGCCTATCCAGG	0.527																																						dbGAP											0													125.0	108.0	113.0					1																	36372581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1443G>A	1.37:g.36372581G>A	ENSP00000362300:p.Met481Ile		Q5TA57|Q6P4S0	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.M481I	ENST00000373204.4	37	c.1443	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.386955	0.95967	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.05996	3.36;3.36	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	M	0.90198	3.095	0.80722	D	1	B	0.31503	0.326	B	0.43251	0.413	T	0.03335	-1.1047	10	0.87932	D	0	-28.3933	19.5797	0.95461	0.0:0.0:1.0:0.0	.	481	Q9UL18	AGO1_HUMAN	I	406;481	ENSP00000362302:M406I;ENSP00000362300:M481I	ENSP00000362300:M481I	M	+	3	0	EIF2C1	36145168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.771000	0.98977	2.623000	0.88846	0.650000	0.86243	ATG	EIF2C1	-	NULL	ENSG00000092847		0.527	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C1	HGNC	protein_coding	OTTHUMT00000019337.3	287	0.00	0	G			36372581	36372581	+1	no_errors	ENST00000373204	ensembl	human	known	69_37n	missense	211	15.87	40	SNP	1.000	A
FAM83H	286077	genome.wustl.edu	37	8	144812359	144812360	+	Frame_Shift_Ins	INS	-	-	G	rs555621325|rs375241274		TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr8:144812359_144812360insG	ENST00000388913.3	-	2	518_519	c.393_394insC	c.(391-396)cccgacfs	p.D132fs	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	132					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTGGGGCTGTCGGGGGGCGGTG	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.394dupC	8.37:g.144812365_144812365dupG	ENSP00000373565:p.Asp132fs		A0JLS2|Q8N4W0	Frame_Shift_Ins	INS	pfam_DUF1669	p.D131fs	ENST00000388913.3	37	c.394_393	CCDS6410.2	8																																																																																			FAM83H	-	pfam_DUF1669	ENSG00000180921		0.653	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83H	HGNC	protein_coding	OTTHUMT00000257632.2	19	0.00	0	-	NM_198488		144812359	144812360	-1	no_errors	ENST00000388913	ensembl	human	known	69_37n	frame_shift_ins	18	14.29	3	INS	1.000:0.007	G
GALNT7	51809	genome.wustl.edu	37	4	174216642	174216642	+	Nonsense_Mutation	SNP	C	C	T	rs190188302		TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr4:174216642C>T	ENST00000265000.4	+	4	933	c.850C>T	c.(850-852)Cga>Tga	p.R284*	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Nonsense_Mutation_p.R284*	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	284	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AATTCAAGCACGAAGTATTGG	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													130.0	138.0	135.0					4																	174216642		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.850C>T	4.37:g.174216642C>T	ENSP00000265000:p.Arg284*		B3KQU3|Q7Z5W7|Q9UJ28	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R284*	ENST00000265000.4	37	c.850	CCDS3815.1	4	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	35	5.563382	0.96527	.	.	ENSG00000109586	ENST00000265000;ENST00000512285;ENST00000458613	.	.	.	5.66	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1829	0.65586	0.4313:0.5687:0.0:0.0	.	.	.	.	X	284;284;61	.	ENSP00000265000:R284X	R	+	1	2	GALNT7	174453217	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.968000	0.49224	1.350000	0.45770	0.655000	0.94253	CGA	GALNT7	-	pfam_Glyco_trans_2	ENSG00000109586		0.353	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	149	0.00	0	C	NM_017423		174216642	174216642	+1	no_errors	ENST00000265000	ensembl	human	known	69_37n	nonsense	119	15.00	21	SNP	1.000	T
GBE1	2632	genome.wustl.edu	37	3	81695559	81695559	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr3:81695559A>C	ENST00000429644.2	-	6	1409	c.766T>G	c.(766-768)Ttc>Gtc	p.F256V	GBE1_ENST00000489715.1_Missense_Mutation_p.F215V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	256					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GCTGCAAAGAAGCTTGTGATT	0.333									Glycogen Storage Disease, type IV																													dbGAP											0													111.0	107.0	108.0					3																	81695559		1869	4090	5959	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.766T>G	3.37:g.81695559A>C	ENSP00000410833:p.Phe256Val		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.F256V	ENST00000429644.2	37	c.766	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462828	0.84425	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.98889	-5.21;-5.21	5.32	5.32	0.75619	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.147715	0.64402	D	0.000006	D	0.99444	0.9803	H	0.96662	3.86	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	D;D	0.87578	0.992;0.998	D	0.98310	1.0523	10	0.87932	D	0	-24.0312	15.4428	0.75200	1.0:0.0:0.0:0.0	.	215;256	E9PGM4;Q04446	.;GLGB_HUMAN	V	256;307;215;19	ENSP00000410833:F256V;ENSP00000419638:F215V	ENSP00000264326:F307V	F	-	1	0	GBE1	81778249	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.761000	0.91691	2.233000	0.73108	0.533000	0.62120	TTC	GBE1	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.333	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	217	0.00	0	A			81695559	81695559	-1	no_errors	ENST00000429644	ensembl	human	known	69_37n	missense	173	24.45	56	SNP	1.000	C
INTS1	26173	genome.wustl.edu	37	7	1527532	1527532	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr7:1527532G>A	ENST00000404767.3	-	19	2465	c.2380C>T	c.(2380-2382)Cgt>Tgt	p.R794C	INTS1_ENST00000389470.4_Missense_Mutation_p.R922C	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	794					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGCTCACGGTTCAGCATC	0.662																																						dbGAP											0													109.0	127.0	121.0					7																	1527532		2146	4238	6384	-	-	-	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2380C>T	7.37:g.1527532G>A	ENSP00000385722:p.Arg794Cys		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.R922C	ENST00000404767.3	37	c.2764	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483432	0.44147	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.48522	0.81;0.82	5.02	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69654	0.957;0.965	T	0.60865	-0.7178	10	0.72032	D	0.01	.	12.593	0.56453	0.0:0.0:0.6981:0.3019	.	922;794	A4D213;Q8N201	.;INT1_HUMAN	C	794;922	ENSP00000385722:R794C;ENSP00000374121:R922C	ENSP00000374121:R922C	R	-	1	0	INTS1	1494058	1.000000	0.71417	0.561000	0.28357	0.032000	0.12392	4.002000	0.57053	1.089000	0.41292	0.549000	0.68633	CGT	INTS1	-	NULL	ENSG00000164880		0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	22	0.00	0	G			1527532	1527532	-1	no_errors	ENST00000389470	ensembl	human	known	69_37n	missense	14	34.78	8	SNP	0.996	A
KIAA1377	57562	genome.wustl.edu	37	11	101833078	101833078	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr11:101833078G>A	ENST00000263468.8	+	6	1582	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E239K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	438										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCAGACCAAGAGAAATATTC	0.378																																						dbGAP											0													55.0	59.0	57.0					11																	101833078		2200	4297	6497	-	-	-	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1312G>A	11.37:g.101833078G>A	ENSP00000263468:p.Glu438Lys		Q4G0U6	Missense_Mutation	SNP	NULL	p.E438K	ENST00000263468.8	37	c.1312	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052085	0.19827	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08546	3.08;3.08	5.05	2.09	0.27110	.	0.604283	0.16408	N	0.215705	T	0.06962	0.0177	L	0.38531	1.155	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.32134	-0.9918	10	0.44086	T	0.13	-0.4885	6.8378	0.23945	0.223:0.128:0.649:0.0	.	438	Q9P2H0	K1377_HUMAN	K	438;239	ENSP00000263468:E438K;ENSP00000443184:E239K	ENSP00000263468:E438K	E	+	1	0	KIAA1377	101338288	0.891000	0.30450	0.466000	0.27168	0.903000	0.53119	2.061000	0.41403	0.226000	0.20979	0.655000	0.94253	GAG	KIAA1377	-	NULL	ENSG00000110318		0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	82	0.00	0	G	NM_020802		101833078	101833078	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	missense	111	11.90	15	SNP	0.144	A
LANCL2	55915	genome.wustl.edu	37	7	55492947	55492947	+	Splice_Site	SNP	G	G	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr7:55492947G>T	ENST00000254770.2	+	7	1587	c.1009G>T	c.(1009-1011)Gtc>Ttc	p.V337F		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	337					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ATTTGCCCAGGTCTTTAAGGA	0.438																																						dbGAP											0													97.0	93.0	94.0					7																	55492947		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1009-1G>T	7.37:g.55492947G>T			B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.V337F	ENST00000254770.2	37	c.1009	CCDS5517.1	7	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367550	0.24771	.	.	ENSG00000132434	ENST00000254770	T	0.47177	0.85	5.41	1.41	0.22369	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.366263	0.30989	N	0.008464	T	0.60340	0.2261	M	0.84082	2.675	0.54753	D	0.999987	P	0.44478	0.836	P	0.57548	0.823	T	0.59144	-0.7509	9	.	.	.	.	5.6967	0.17859	0.2947:0.1403:0.565:0.0	.	337	Q9NS86	LANC2_HUMAN	F	337	ENSP00000254770:V337F	.	V	+	1	0	LANCL2	55460441	0.989000	0.36119	0.523000	0.27875	0.139000	0.21198	0.694000	0.25512	0.773000	0.33404	-0.224000	0.12420	GTC	LANCL2	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	ENSG00000132434		0.438	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	147	0.00	0	G	NM_018697	Missense_Mutation	55492947	55492947	+1	no_errors	ENST00000254770	ensembl	human	known	69_37n	missense	131	18.12	29	SNP	0.562	T
LNX1	84708	genome.wustl.edu	37	4	54364837	54364837	+	Silent	SNP	G	G	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr4:54364837G>T	ENST00000263925.7	-	5	1263	c.949C>A	c.(949-951)Cgg>Agg	p.R317R	FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000306888.2_Silent_p.R221R	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	317	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGCAGTAGCCGGCCGTCTCTG	0.493																																						dbGAP											0													67.0	61.0	63.0					4																	54364837		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.949C>A	4.37:g.54364837G>T			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.R317	ENST00000263925.7	37	c.949	CCDS47057.1	4																																																																																			LNX1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000072201		0.493	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	87	0.00	0	G			54364837	54364837	-1	no_errors	ENST00000263925	ensembl	human	known	69_37n	silent	83	15.31	15	SNP	1.000	T
LRIT2	340745	genome.wustl.edu	37	10	85984158	85984158	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr10:85984158A>T	ENST00000372113.4	-	2	828	c.823T>A	c.(823-825)Ttg>Atg	p.L275M	LRIT2_ENST00000538192.1_Missense_Mutation_p.L275M	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	275	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCCTGTGCCAAGCATCGCAGG	0.512																																						dbGAP											0													97.0	78.0	85.0					10																	85984158		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.823T>A	10.37:g.85984158A>T	ENSP00000361185:p.Leu275Met		B7ZME6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L275M	ENST00000372113.4	37	c.823	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366866	0.61513	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.66995	-0.24;-0.24	5.44	-2.09	0.07232	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.442362	0.24314	N	0.039604	T	0.67776	0.2929	L	0.52126	1.63	0.25841	N	0.984059	D;D	0.60160	0.987;0.984	P;P	0.62885	0.908;0.876	T	0.61860	-0.6976	10	0.30078	T	0.28	.	8.5899	0.33682	0.7381:0.1211:0.1408:0.0	.	275;275	B7ZME6;A6NDA9	.;LRIT2_HUMAN	M	275	ENSP00000361185:L275M;ENSP00000438264:L275M	ENSP00000361185:L275M	L	-	1	2	LRIT2	85974138	1.000000	0.71417	0.947000	0.38551	0.998000	0.95712	1.119000	0.31258	-0.444000	0.07170	0.533000	0.62120	TTG	LRIT2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000204033		0.512	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	64	0.00	0	A	XM_291697		85984158	85984158	-1	no_errors	ENST00000538192	ensembl	human	known	69_37n	missense	83	11.70	11	SNP	0.982	T
LRP12	29967	genome.wustl.edu	37	8	105503549	105503552	+	Frame_Shift_Del	DEL	GTGA	GTGA	-			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	GTGA	GTGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr8:105503549_105503552delGTGA	ENST00000276654.5	-	7	2037_2040	c.1929_1932delTCAC	c.(1927-1932)actcacfs	p.TH643fs	LRP12_ENST00000424843.2_Frame_Shift_Del_p.TH624fs|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	643					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACAAACTTCTGTGAGTATGATTTC	0.466																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1929_1932delTCAC	8.37:g.105503549_105503552delGTGA	ENSP00000276654:p.Thr643fs		A8K137|B4DRQ2	Frame_Shift_Del	DEL	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.H625fs	ENST00000276654.5	37	c.1875_1872	CCDS6303.1	8																																																																																			LRP12	-	NULL	ENSG00000147650		0.466	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	125	0.00	0	GTGA	NM_013437		105503549	105503552	-1	no_errors	ENST00000424843	ensembl	human	known	69_37n	frame_shift_del	96	21.31	26	DEL	1.000:1.000:1.000:0.954	-
MAPKAPK5	8550	genome.wustl.edu	37	12	112280459	112280460	+	5'UTR	INS	-	-	TG			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr12:112280459_112280460insTG	ENST00000551404.2	+	0	30_31				MAPKAPK5-AS1_ENST00000428207.1_lincRNA|MAPKAPK5_ENST00000550735.2_5'UTR|MAPKAPK5_ENST00000546394.1_3'UTR|MAPKAPK5_ENST00000547305.1_5'UTR			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5						activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						GAGTGCCGAGCCCTTTGCTCCC	0.752																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.-78->TG	12.37:g.112280459_112280460insTG			B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	RNA	INS	-	NULL	ENST00000551404.2	37	NULL	CCDS44975.1	12																																																																																			MAPKAPK5-AS1	-	-	ENSG00000234608		0.752	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPKAPK5-AS1	HGNC	protein_coding	OTTHUMT00000405019.2	19	0.00	0	-	NM_139078		112280459	112280460	-1	no_errors	ENST00000428207	ensembl	human	known	69_37n	rna	10	23.08	3	INS	0.806:0.787	TG
LOC101927314	101927314	genome.wustl.edu	37	6	98472466	98472466	+	lincRNA	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr6:98472466G>A	ENST00000607823.1	+	0	267				MIR2113_ENST00000459007.1_RNA																							AAGAGGATTTGTGCTTGGCTC	0.413																																						dbGAP											0													102.0	104.0	103.0					6																	98472466		692	1591	2283	-	-	-			0																															6.37:g.98472466G>A				RNA	SNP	-	NULL	ENST00000607823.1	37	NULL		6																																																																																			MIR2113	-	-	ENSG00000238367		0.413	RP11-436D23.1-003	KNOWN	not_organism_supported|basic	lincRNA	MIR2113	HGNC	lincRNA	OTTHUMT00000471318.1	107	0.00	0	G			98472466	98472466	+1	no_errors	ENST00000459007	ensembl	human	known	69_37n	rna	223	13.23	34	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11313969	11313969	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr1:11313969T>C	ENST00000361445.4	-	6	843	c.767A>G	c.(766-768)aAt>aGt	p.N256S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	256	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATCATCCCGATTCATGCCCTT	0.517																																						dbGAP											0													282.0	247.0	259.0					1																	11313969		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.767A>G	1.37:g.11313969T>C	ENSP00000354558:p.Asn256Ser		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.N256S	ENST00000361445.4	37	c.767	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	-	15.06	2.721534	0.48728	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.63417	-0.04	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	L	0.41824	1.3	0.80722	D	1	B	0.15141	0.012	B	0.11329	0.006	T	0.48399	-0.9039	10	0.24483	T	0.36	-4.0541	15.1057	0.72319	0.0:0.0:0.0:1.0	.	256	P42345	MTOR_HUMAN	S	256	ENSP00000354558:N256S	ENSP00000354558:N256S	N	-	2	0	MTOR	11236556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.659000	0.83766	1.979000	0.57680	0.449000	0.29647	AAT	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	189	0.53	1	T	NM_004958		11313969	11313969	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	missense	139	22.35	40	SNP	1.000	C
MYL1	4632	genome.wustl.edu	37	2	211159027	211159027	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr2:211159027G>C	ENST00000352451.3	-	4	567	c.420C>G	c.(418-420)gaC>gaG	p.D140E	MYL1_ENST00000341685.4_Missense_Mutation_p.D96E|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	140	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGCCTTCCTTGTCAAAGACAC	0.453																																						dbGAP											0													154.0	125.0	135.0					2																	211159027		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.420C>G	2.37:g.211159027G>C	ENSP00000307280:p.Asp140Glu		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D140E	ENST00000352451.3	37	c.420	CCDS2390.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673988	0.88445	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	D;D	0.89485	-2.52;-2.52	5.77	3.97	0.46021	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95906	0.8667	H	0.96269	3.795	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.91635	0.999;0.999	D	0.95909	0.8921	10	0.72032	D	0.01	.	12.1356	0.53968	0.1379:0.0:0.8621:0.0	.	140;96	P05976;P05976-2	MYL1_HUMAN;.	E	96;140	ENSP00000343321:D96E;ENSP00000307280:D140E	ENSP00000343321:D96E	D	-	3	2	MYL1	210867272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.526000	0.67116	0.801000	0.34066	0.650000	0.86243	GAC	MYL1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000168530		0.453	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	292	0.00	0	G	NM_079420		211159027	211159027	-1	no_errors	ENST00000352451	ensembl	human	known	69_37n	missense	336	13.62	53	SNP	1.000	C
MYO1F	4542	genome.wustl.edu	37	19	8592341	8592341	+	Silent	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr19:8592341C>T	ENST00000338257.8	-	22	2622	c.2355G>A	c.(2353-2355)acG>acA	p.T785T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	785	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACACTTGGGCGTCAGGATCA	0.567																																						dbGAP											0													78.0	76.0	76.0					19																	8592341		1993	4177	6170	-	-	-	SO:0001819	synonymous_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2355G>A	19.37:g.8592341C>T			Q8WWN7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain	p.T785	ENST00000338257.8	37	c.2355	CCDS42494.1	19																																																																																			MYO1F	-	pfam_Myosin_tail_2	ENSG00000142347		0.567	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	84	0.00	0	C			8592341	8592341	-1	no_errors	ENST00000338257	ensembl	human	known	69_37n	silent	125	11.89	17	SNP	0.554	T
NCOR2	9612	genome.wustl.edu	37	12	124846815	124846816	+	Frame_Shift_Ins	INS	-	-	G	rs561270684		TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr12:124846815_124846816insG	ENST00000405201.1	-	22	2956_2957	c.2956_2957insC	c.(2956-2958)cggfs	p.R986fs	NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.R969fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.R968fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.R968fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.R539fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.R985fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	986					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGCGTCCTCCCGGGGGGGCTCA	0.653																																						dbGAP											0									,,	13,3867		1,11,1928					,,	3.1	1.0			16	18,7950		0,18,3966	no	frameshift,frameshift,frameshift	NCOR2	NM_006312.5,NM_001206654.1,NM_001077261.3	,,	1,29,5894	A1A1,A1R,RR		0.2259,0.3351,0.2616	,,	,,		31,11817				-	-	-	SO:0001589	frameshift_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2957dupC	12.37:g.124846822_124846822dupG	ENSP00000384018:p.Arg986fs		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R985fs	ENST00000405201.1	37	c.2954_2953	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.653	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	17	0.00	0	-	NM_006312		124846815	124846816	-1	no_errors	ENST00000356219	ensembl	human	known	69_37n	frame_shift_ins	11	21.43	3	INS	0.999:0.990	G
NEK9	91754	genome.wustl.edu	37	14	75580953	75580953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr14:75580953G>A	ENST00000238616.5	-	7	984	c.826C>T	c.(826-828)Cag>Tag	p.Q276*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AAAGAGTACTGGCTAGAGTCA	0.438																																						dbGAP											0													205.0	165.0	178.0					14																	75580953		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.826C>T	14.37:g.75580953G>A	ENSP00000238616:p.Gln276*		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q276*	ENST00000238616.5	37	c.826	CCDS9839.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.324406	0.97476	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	.	.	.	5.32	4.42	0.53409	.	0.214262	0.36200	N	0.002728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	8.0233	0.30423	0.0898:0.3054:0.6048:0.0	.	.	.	.	X	276;258	.	ENSP00000238616:Q276X	Q	-	1	0	NEK9	74650706	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.905000	0.39878	2.486000	0.83907	0.313000	0.20887	CAG	NEK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000119638		0.438	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	190	0.00	0	G	NM_033116		75580953	75580953	-1	no_errors	ENST00000238616	ensembl	human	known	69_37n	nonsense	223	15.85	42	SNP	1.000	A
NHLRC3	387921	genome.wustl.edu	37	13	39612843	39612843	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr13:39612843C>G	ENST00000379600.3	+	1	389	c.67C>G	c.(67-69)Cgt>Ggt	p.R23G	NHLRC3_ENST00000470258.1_Intron|PROSER1_ENST00000352251.3_5'Flank|NHLRC3_ENST00000379599.2_Missense_Mutation_p.R23G|PROSER1_ENST00000350125.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	23						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTTGCATTCGCGTTTTTGTGG	0.587																																						dbGAP											0													277.0	229.0	245.0					13																	39612843		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.67C>G	13.37:g.39612843C>G	ENSP00000368920:p.Arg23Gly		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.R23G	ENST00000379600.3	37	c.67	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621654	0.28889	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	T;T	0.64991	0.95;-0.13	5.03	4.15	0.48705	.	0.519084	0.18174	N	0.149343	T	0.53883	0.1824	L	0.53249	1.67	0.09310	N	1	B;B;B;P	0.38455	0.0;0.0;0.358;0.632	B;B;B;B	0.37731	0.001;0.001;0.063;0.257	T	0.47724	-0.9095	9	.	.	.	-1.513	7.3812	0.26856	0.0:0.8733:0.0:0.1267	.	23;23;23;23	B4DTL0;Q5JS37;B4DRC8;F5GZB5	.;NHLC3_HUMAN;.;.	G	23	ENSP00000368920:R23G;ENSP00000368919:R23G	.	R	+	1	0	NHLRC3	38510843	0.000000	0.05858	0.002000	0.10522	0.265000	0.26407	0.349000	0.20055	1.252000	0.44001	0.555000	0.69702	CGT	NHLRC3	-	NULL	ENSG00000188811		0.587	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	172	0.00	0	C	NM_001012754		39612843	39612843	+1	no_errors	ENST00000379600	ensembl	human	known	69_37n	missense	91	13.21	14	SNP	0.002	G
NOTCH2	4853	genome.wustl.edu	37	1	120484229	120484229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr1:120484229delG	ENST00000256646.2	-	18	3120	c.2901delC	c.(2899-2901)tacfs	p.Y967fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	967	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGTTGACGTAGTCAGAGC	0.517			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													138.0	101.0	114.0					1																	120484229		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2901delC	1.37:g.120484229delG	ENSP00000256646:p.Tyr967fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Y967fs	ENST00000256646.2	37	c.2901	CCDS908.1	1																																																																																			NOTCH2	-	pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	118	0.00	0	G	NM_024408		120484229	120484229	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	frame_shift_del	113	26.42	42	DEL	0.844	-
NOX4	50507	genome.wustl.edu	37	11	89166019	89166019	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr11:89166019C>T	ENST00000263317.4	-	7	719	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	NOX4_ENST00000534731.1_Missense_Mutation_p.G161S|NOX4_ENST00000525196.1_Missense_Mutation_p.G161S|NOX4_ENST00000535633.1_Missense_Mutation_p.G137S|NOX4_ENST00000527956.1_Missense_Mutation_p.G137S|NOX4_ENST00000542487.1_Missense_Mutation_p.G137S|NOX4_ENST00000413594.2_Missense_Mutation_p.G182S|NOX4_ENST00000528341.1_Missense_Mutation_p.G136S|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.G137S|NOX4_ENST00000343727.5_Missense_Mutation_p.G137S|NOX4_ENST00000532825.1_Missense_Mutation_p.G137S			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	161	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCTGTCAGGCCAGGAACTATA	0.343																																						dbGAP											0													75.0	70.0	72.0					11																	89166019		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.481G>A	11.37:g.89166019C>T	ENSP00000263317:p.Gly161Ser		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.G182S	ENST00000263317.4	37	c.544	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556128	0.86231	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.22;-4.22;-4.22;-4.28;-4.15;-4.2;-4.32;-4.22;-4.22;-4.41;-4.3	5.65	5.65	0.86999	Flavoprotein transmembrane component (1);	0.106561	0.64402	D	0.000006	D	0.98855	0.9613	H	0.94385	3.53	0.46654	D	0.999148	D;D;D;D;D	0.89917	0.991;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.97;1.0;0.996;0.997;0.997	D	0.99505	1.0954	9	.	.	.	-10.7085	15.2242	0.73336	0.0:1.0:0.0:0.0	.	137;136;161;161;161	E9PMY6;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	S	137;137;137;161;161;161;137;137;137;136;182	ENSP00000412446:G137S;ENSP00000440172:G137S;ENSP00000344747:G137S;ENSP00000436892:G161S;ENSP00000436716:G161S;ENSP00000263317:G161S;ENSP00000434924:G137S;ENSP00000433797:G137S;ENSP00000439373:G137S;ENSP00000436970:G136S;ENSP00000405705:G182S	.	G	-	1	0	NOX4	88805667	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	4.010000	0.57117	2.668000	0.90789	0.655000	0.94253	GGC	NOX4	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000086991		0.343	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	230	0.00	0	C	NM_016931		89166019	89166019	-1	no_errors	ENST00000413594	ensembl	human	known	69_37n	missense	299	14.33	50	SNP	1.000	T
OPRM1	4988	genome.wustl.edu	37	6	154414532	154414532	+	Intron	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr6:154414532G>A	ENST00000330432.7	+	3	1401				OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000229768.5_Missense_Mutation_p.R431H|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000518759.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCCTGCCTTCGTGGAAATACT	0.522																																						dbGAP											0													210.0	202.0	205.0					6																	154414532		1962	4157	6119	-	-	-	SO:0001627	intron_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1925G>A	6.37:g.154414532G>A			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mu_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.R431H	ENST00000330432.7	37	c.1292	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147409	0.37923	.	.	ENSG00000112038	ENST00000229768	T	0.72725	-0.68	5.06	-3.93	0.04143	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	8	0.87932	D	0	.	1.23	0.01941	0.489:0.1623:0.1329:0.2157	.	431	P35372-3	.	H	431	ENSP00000229768:R431H	ENSP00000229768:R431H	R	+	2	0	OPRM1	154456225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.009000	0.12765	-0.592000	0.05851	-0.910000	0.02820	CGT	OPRM1	-	NULL	ENSG00000112038		0.522	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	157	0.00	0	G	NM_000914		154414532	154414532	+1	no_errors	ENST00000229768	ensembl	human	known	69_37n	missense	181	11.71	24	SNP	0.000	A
OR2T12	127064	genome.wustl.edu	37	1	248458340	248458340	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr1:248458340C>T	ENST00000317996.1	-	1	540	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V181M(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CGCACCAACACGGGGGCCTCG	0.562																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											183.0	138.0	153.0					1																	248458340		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.541G>A	1.37:g.248458340C>T	ENSP00000324583:p.Val181Met			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V181M	ENST00000317996.1	37	c.541	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	c	8.997	0.979175	0.18812	.	.	ENSG00000177201	ENST00000317996	T	0.00099	8.73	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	2.110980	0.02854	N	0.129513	T	0.00109	0.0003	L	0.39245	1.2	0.09310	N	1	B	0.32829	0.386	B	0.22753	0.041	T	0.28776	-1.0033	10	0.56958	D	0.05	.	1.118	0.01718	0.1714:0.2547:0.3849:0.189	.	181	Q8NG77	O2T12_HUMAN	M	181	ENSP00000324583:V181M	ENSP00000324583:V181M	V	-	1	0	OR2T12	246524963	0.000000	0.05858	0.006000	0.13384	0.305000	0.27757	-0.323000	0.07997	-0.223000	0.09943	0.175000	0.17021	GTG	OR2T12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000177201		0.562	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	401	0.00	0	C	NM_001004692		248458340	248458340	-1	no_errors	ENST00000317996	ensembl	human	known	69_37n	missense	490	16.86	100	SNP	0.000	T
POLL	27343	genome.wustl.edu	37	10	103339232	103339232	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr10:103339232T>C	ENST00000370162.3	-	9	2200	c.1706A>G	c.(1705-1707)gAa>gGa	p.E569G	DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_Missense_Mutation_p.E242G|POLL_ENST00000370172.1_Missense_Mutation_p.E481G|POLL_ENST00000299206.4_Missense_Mutation_p.E569G|POLL_ENST00000370158.3_Missense_Mutation_p.E294G|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.E569G|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000456836.2_Missense_Mutation_p.E306G|POLL_ENST00000339310.3_Missense_Mutation_p.E292G	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	569					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTCAGCAGGTTCTCGGTAGGG	0.647								DNA polymerases (catalytic subunits)																														dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1706A>G	10.37:g.103339232T>C	ENSP00000359181:p.Glu569Gly		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.E569G	ENST00000370162.3	37	c.1706	CCDS7513.1	10	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031390	0.75504	.	.	ENSG00000166169	ENST00000299206;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000456836	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	4.38	4.38	0.52667	DNA-directed DNA polymerase X (1);	0.268937	0.35525	N	0.003146	T	0.68568	0.3015	M	0.92555	3.32	0.80722	D	1	P;P;P;D;D;D	0.64830	0.899;0.812;0.547;0.994;0.967;0.991	P;B;B;P;P;P	0.54629	0.503;0.293;0.134;0.757;0.496;0.65	T	0.77264	-0.2652	10	0.54805	T	0.06	-0.0146	13.4028	0.60893	0.0:0.0:0.0:1.0	.	292;306;294;569;477;242	Q5JQP4;B4DEF5;Q9BTN8;Q9UGP5;A8K860;Q9HBN3	.;.;.;DPOLL_HUMAN;.;.	G	569;569;292;481;242;569;294;306	ENSP00000299206:E569G;ENSP00000359188:E569G;ENSP00000343102:E292G;ENSP00000359191:E481G;ENSP00000359187:E242G;ENSP00000359181:E569G;ENSP00000359177:E294G;ENSP00000390810:E306G	ENSP00000299206:E569G	E	-	2	0	POLL	103329222	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.605000	0.54088	1.827000	0.53221	0.379000	0.24179	GAA	POLL	-	smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	ENSG00000166169		0.647	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	POLL	HGNC	protein_coding	OTTHUMT00000049946.1	44	0.00	0	T	NM_013274		103339232	103339232	-1	no_errors	ENST00000299206	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	C
PRDM8	56978	genome.wustl.edu	37	4	81124519	81124519	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr4:81124519C>T	ENST00000504452.1	+	8	2742	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	PRDM8_ENST00000415738.2_Missense_Mutation_p.R635C|PRDM8_ENST00000339711.4_Missense_Mutation_p.R635C			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	635					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TGCCTCCTTCCGCATGACCTC	0.622																																						dbGAP											0													35.0	38.0	37.0					4																	81124519		2184	4281	6465	-	-	-	SO:0001583	missense	0			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1903C>T	4.37:g.81124519C>T	ENSP00000423985:p.Arg635Cys		A8K7X2|Q6IQ36	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R635C	ENST00000504452.1	37	c.1903	CCDS43243.1	4	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595908	0.66332	.	.	ENSG00000152784	ENST00000504452;ENST00000339711;ENST00000415738	T;T;T	0.29655	1.56;1.56;1.56	4.78	3.94	0.45596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	M	0.67397	2.05	0.80722	D	1	P	0.51240	0.943	B	0.38803	0.282	T	0.14643	-1.0465	10	0.87932	D	0	.	8.5557	0.33480	0.1502:0.7719:0.0:0.0779	.	635	Q9NQV8	PRDM8_HUMAN	C	635	ENSP00000423985:R635C;ENSP00000339764:R635C;ENSP00000406998:R635C	ENSP00000339764:R635C	R	+	1	0	PRDM8	81343543	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.458000	0.60095	1.227000	0.43598	0.586000	0.80456	CGC	PRDM8	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152784		0.622	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	49	0.00	0	C			81124519	81124519	+1	no_errors	ENST00000339711	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	1.000	T
PRPF4	9128	genome.wustl.edu	37	9	116038854	116038854	+	Silent	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr9:116038854C>T	ENST00000374198.4	+	2	159	c.57C>T	c.(55-57)gaC>gaT	p.D19D	CDC26_ENST00000490408.1_5'Flank|CDC26_ENST00000374206.3_5'Flank|PRPF4_ENST00000374199.4_Silent_p.D18D	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	19					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CACCCGACGACTTAGTTGCTC	0.458																																						dbGAP											0													104.0	107.0	106.0					9																	116038854		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.57C>T	9.37:g.116038854C>T			O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Silent	SNP	pfam_WD40_repeat,pfam_PRP4,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D19	ENST00000374198.4	37	c.57	CCDS6791.1	9																																																																																			PRPF4	-	NULL	ENSG00000136875		0.458	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRPF4	HGNC	protein_coding	OTTHUMT00000053708.2	264	0.00	0	C	NM_004697		116038854	116038854	+1	no_errors	ENST00000374198	ensembl	human	known	69_37n	silent	140	24.73	46	SNP	0.926	T
RAB42	115273	genome.wustl.edu	37	1	28920546	28920547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr1:28920546_28920547insG	ENST00000373826.3	+	2	541_542	c.235_236insG	c.(235-237)tggfs	p.W79fs	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	79					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGCTGGGGGGGTGTC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"""RAB, member RAS oncogene"""	28702	protein-coding gene	gene with protein product			"""RAB42, member RAS homolog family"""				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.242dupG	1.37:g.28920553_28920553dupG	ENSP00000362932:p.Trp79fs		B2R5G2	Frame_Shift_Ins	INS	pfam_Small_GTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.V82fs	ENST00000373826.3	37	c.235_236	CCDS325.1	1																																																																																			RAB42	-	NULL	ENSG00000188060		0.584	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB42	HGNC	protein_coding	OTTHUMT00000010371.1	71	0.00	0	-	NM_152304		28920546	28920547	+1	no_errors	ENST00000373826	ensembl	human	known	69_37n	frame_shift_ins	65	12.16	9	INS	1.000:1.000	G
RASA3	22821	genome.wustl.edu	37	13	114806570	114806570	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr13:114806570C>G	ENST00000334062.7	-	4	399	c.278G>C	c.(277-279)gGg>gCg	p.G93A	RASA3_ENST00000389544.4_Splice_Site_p.G61A|RASA3_ENST00000542651.1_Intron	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	93	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GGCCACCTTCCCTGCAACACA	0.582																																						dbGAP											0													174.0	136.0	149.0					13																	114806570		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.278-1G>C	13.37:g.114806570C>G			A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.G93A	ENST00000334062.7	37	c.278	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496388	0.85069	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.94687	-3.49;-3.49	5.12	5.12	0.69794	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.83118	2.625	0.80722	D	1	D	0.60160	0.987	D	0.68765	0.96	D	0.97309	0.9936	9	.	.	.	.	17.347	0.87312	0.0:1.0:0.0:0.0	.	93	Q14644	RASA3_HUMAN	A	93;61	ENSP00000335029:G93A;ENSP00000374195:G61A	.	G	-	2	0	RASA3	113824672	1.000000	0.71417	0.997000	0.53966	0.838000	0.47535	6.377000	0.73145	2.388000	0.81334	0.563000	0.77884	GGG	RASA3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000185989		0.582	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	23	0.00	0	C	NM_007368	Missense_Mutation	114806570	114806570	-1	no_errors	ENST00000334062	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	G
RASGRP2	10235	genome.wustl.edu	37	11	64508387	64508388	+	Intron	INS	-	-	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr11:64508387_64508388insC	ENST00000354024.3	-	5	624				RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394432.3_Intron|RASGRP2_ENST00000394430.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.A135fs	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATACTGAGTGCCCCCCCAGCC	0.53											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.371+31->G	11.37:g.64508394_64508394dupC		1077	A6NDC7|O00538|Q9UL65	Frame_Shift_Ins	INS	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	p.A135fs	ENST00000354024.3	37	c.404_403	CCDS31598.1	11																																																																																			RASGRP2	-	NULL	ENSG00000068831		0.530	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1	30	0.00	0	-	NM_153819		64508387	64508388	-1	no_errors	ENST00000377486	ensembl	human	putative	69_37n	frame_shift_ins	22	15.38	4	INS	0.000:0.001	C
RELA	5970	genome.wustl.edu	37	11	65427261	65427261	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr11:65427261T>C	ENST00000406246.3	-	6	696	c.435A>G	c.(433-435)atA>atG	p.I145M	RELA_ENST00000308639.9_Splice_Site|RELA_ENST00000525693.1_Missense_Mutation_p.I145M	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	145	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCTGCTCTTCTATAGGAACTG	0.632																																						dbGAP											0													41.0	42.0	42.0					11																	65427261		2201	4297	6498	-	-	-	SO:0001583	missense	0			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.435A>G	11.37:g.65427261T>C	ENSP00000384273:p.Ile145Met		Q6GTV1|Q6SLK1	Splice_Site	SNP	-	e6-2	ENST00000406246.3	37	c.428-2	CCDS31609.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.732|7.732	0.699345|0.699345	0.15106|0.15106	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000308639|ENST00000406246;ENST00000525693;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	.|T;T;T;T;T	.|0.41758	.|0.99;0.99;0.99;0.99;0.99	4.71|4.71	-3.2|-3.2	0.05156|0.05156	.|Rel homology (3);p53-like transcription factor, DNA-binding (1);	.|0.459428	.|0.22878	.|N	.|0.054560	.|T	.|0.15046	.|0.0363	N|N	0.11364|0.11364	0.135|0.135	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.13594	.|0.008;0.005;0.0;0.0;0.002	.|B;B;B;B;B	.|0.11329	.|0.004;0.006;0.001;0.003;0.003	.|T	.|0.05582	.|-1.0876	.|10	.|0.32370	.|T	.|0.25	.|-3.2512	0.5049|0.5049	0.00585|0.00585	0.2921:0.2237:0.2965:0.1877|0.2921:0.2237:0.2965:0.1877	.|.	.|145;132;145;156;145	.|Q04206-3;Q04206-2;Q04206;B4E082;Q2TAM5	.|.;.;TF65_HUMAN;.;.	.|M	-1|145;145;145;156;156;136;114	.|ENSP00000384273:I145M;ENSP00000432537:I145M;ENSP00000433526:I156M;ENSP00000434372:I136M;ENSP00000436545:I114M	.|ENSP00000384273:I145M	.|I	-|-	.|3	.|3	RELA|RELA	65183837|65183837	0.214000|0.214000	0.23563|0.23563	0.992000|0.992000	0.48379|0.48379	0.485000|0.485000	0.33311|0.33311	-0.159000|-0.159000	0.10056|0.10056	-0.494000|-0.494000	0.06669|0.06669	0.374000|0.374000	0.22700|0.22700	.|ATA	RELA	-	-	ENSG00000173039		0.632	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	42	0.00	0	T	NM_021975		65427261	65427261	-1	no_errors	ENST00000308639	ensembl	human	known	69_37n	splice_site	31	13.89	5	SNP	0.911	C
CELF3	11189	genome.wustl.edu	37	1	151687003	151687003	+	Intron	SNP	G	G	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr1:151687003G>T	ENST00000290583.4	-	2	1022				CELF3_ENST00000290585.4_Intron|RIIAD1_ENST00000326413.3_Missense_Mutation_p.V7L|AL589765.1_ENST00000442233.2_3'UTR	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGTCAGGAGGGTGGTGAGCCT	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.228+66C>A	1.37:g.151687003G>T			B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.V7L	ENST00000290583.4	37	c.19	CCDS1002.1	1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622239	0.46840	.	.	ENSG00000178796	ENST00000326413	.	.	.	4.17	3.25	0.37280	.	.	.	.	.	T	0.26593	0.0650	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.19063	-1.0317	5	0.87932	D	0	0.8169	7.5338	0.27697	0.1183:0.0:0.8817:0.0	.	.	.	.	L	7	.	ENSP00000420280:V7L	V	+	1	0	RIIAD1	149953627	0.003000	0.15002	0.024000	0.17045	0.363000	0.29612	0.807000	0.27140	0.964000	0.38108	0.563000	0.77884	GTG	RIIAD1	-	NULL	ENSG00000178796		0.562	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIIAD1	HGNC	protein_coding	OTTHUMT00000036663.2	81	0.00	0	G	NM_007185		151687003	151687003	+1	no_errors	ENST00000326413	ensembl	human	putative	69_37n	missense	98	13.16	15	SNP	0.022	T
RPS5	6193	genome.wustl.edu	37	19	58904744	58904744	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr19:58904744G>C	ENST00000596046.1	+	3	1186	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	RPS5_ENST00000598098.1_Missense_Mutation_p.V43L|RPS5_ENST00000196551.3_Missense_Mutation_p.V113L|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000601521.1_Missense_Mutation_p.V113L|RPS5_ENST00000598495.1_Missense_Mutation_p.V134L			P46782	RS5_HUMAN	ribosomal protein S5	113					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCAGGTCCTGGTGAACGCCAT	0.597																																						dbGAP											0													124.0	100.0	109.0					19																	58904744		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.337G>C	19.37:g.58904744G>C	ENSP00000472985:p.Val113Leu		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.V113L	ENST00000596046.1	37	c.337	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533944	0.64972	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.78	4.78	0.61160	Ribosomal protein S7 domain (3);	0.000000	0.85682	D	0.000000	T	0.79227	0.4410	M	0.87038	2.855	0.80722	D	1	D	0.64830	0.994	P	0.59546	0.859	D	0.83852	0.0263	9	0.87932	D	0	-29.1612	15.6905	0.77446	0.0:0.0:1.0:0.0	.	113	P46782	RS5_HUMAN	L	113	.	ENSP00000196551:V113L	V	+	1	0	RPS5	63596556	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.578000	0.74032	2.389000	0.81357	0.655000	0.94253	GTG	RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.597	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	35	0.00	0	G	NM_001009		58904744	58904744	+1	no_errors	ENST00000196551	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	1.000	C
SLC16A11	162515	genome.wustl.edu	37	17	6946356	6946357	+	Frame_Shift_Ins	INS	-	-	C	rs75636181	byFrequency	TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr17:6946356_6946357insC	ENST00000308009.1	-	2	647_648	c.310_311insG	c.(310-312)gccfs	p.A104fs	SLC16A11_ENST00000447225.1_Frame_Shift_Ins_p.A80fs	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	104					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CACGGGGCGGGCCCCCCAGCGC	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.311dupG	17.37:g.6946362_6946362dupC	ENSP00000310490:p.Ala104fs			Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A104fs	ENST00000308009.1	37	c.311_310	CCDS11086.1	17																																																																																			SLC16A11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000174326		0.693	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	34	0.00	0	-	NM_153357		6946356	6946357	-1	no_errors	ENST00000308009	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	1.000:0.993	C
SLC6A12	6539	genome.wustl.edu	37	12	306621	306621	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr12:306621C>A	ENST00000428720.1	-	10	1740	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000359674.4_Missense_Mutation_p.A333S|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A333S|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A333S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.A333S	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	333					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ACAAACCCAGCCACAAAGCTG	0.572																																						dbGAP											0													69.0	56.0	61.0					12																	306621		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.997G>T	12.37:g.306621C>A	ENSP00000388184:p.Ala333Ser		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.A333S	ENST00000428720.1	37	c.997	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320572	0.60634	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	L	0.39633	1.23	0.80722	D	1	P	0.46327	0.876	P	0.61328	0.887	T	0.81441	-0.0931	10	0.37606	T	0.19	.	17.2734	0.87109	0.0:1.0:0.0:0.0	.	333	P48065	S6A12_HUMAN	S	333	ENSP00000352702:A333S;ENSP00000380464:A333S;ENSP00000388184:A333S;ENSP00000399136:A333S;ENSP00000444268:A333S	ENSP00000352702:A333S	A	-	1	0	SLC6A12	176882	1.000000	0.71417	0.941000	0.38009	0.592000	0.36648	5.680000	0.68168	2.299000	0.77371	0.655000	0.94253	GCT	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000111181		0.572	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	86	0.00	0	C	NM_003044		306621	306621	-1	no_errors	ENST00000359674	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	A
SLCO5A1	81796	genome.wustl.edu	37	8	70585447	70585447	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr8:70585447C>T	ENST00000260126.4	-	10	2910	c.2204G>A	c.(2203-2205)cGt>cAt	p.R735H	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R680H|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	735						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATACACAAAACGAAACGACGT	0.468																																						dbGAP											0													141.0	143.0	142.0					8																	70585447		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2204G>A	8.37:g.70585447C>T	ENSP00000260126:p.Arg735His		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R735H	ENST00000260126.4	37	c.2204	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.191267	0.94923	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.47528	0.84;0.84	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000016	T	0.74581	0.3735	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77032	-0.2738	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	680;735	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	H	735;680	ENSP00000260126:R735H;ENSP00000431611:R680H	ENSP00000260126:R735H	R	-	2	0	SLCO5A1	70748001	1.000000	0.71417	0.963000	0.40424	0.971000	0.66376	7.375000	0.79646	2.826000	0.97356	0.655000	0.94253	CGT	SLCO5A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.468	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	104	0.00	0	C	NM_030958		70585447	70585447	-1	no_errors	ENST00000260126	ensembl	human	known	69_37n	missense	102	20.31	26	SNP	1.000	T
SVIL	6840	genome.wustl.edu	37	10	29756715	29756715	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr10:29756715G>A	ENST00000355867.4	-	33	6685	c.5933C>T	c.(5932-5934)gCc>gTc	p.A1978V	PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.A892V|SVIL_ENST00000375400.3_Missense_Mutation_p.A1552V|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.A1978V|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1978					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTTCCTAAGGCATCCCAGAA	0.488																																						dbGAP											0													143.0	123.0	130.0					10																	29756715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5933C>T	10.37:g.29756715G>A	ENSP00000348128:p.Ala1978Val		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.A1978V	ENST00000355867.4	37	c.5933	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086805	0.76642	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.66	5.66	0.87406	.	0.097043	0.64402	D	0.000001	T	0.62575	0.2439	M	0.75447	2.3	0.80722	D	1	P;P;P	0.48503	0.911;0.562;0.781	P;B;P	0.55391	0.775;0.439;0.459	T	0.63690	-0.6580	10	0.66056	D	0.02	-15.9115	20.1117	0.97914	0.0:0.0:1.0:0.0	.	892;1552;1978	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	V	1552;1978;1978;892	ENSP00000364549:A1552V;ENSP00000364547:A1978V;ENSP00000348128:A1978V;ENSP00000445472:A892V	ENSP00000348128:A1978V	A	-	2	0	SVIL	29796721	1.000000	0.71417	0.433000	0.26760	0.028000	0.11728	9.684000	0.98659	2.833000	0.97629	0.650000	0.86243	GCC	SVIL	-	smart_Gelsolin,prints_Gelsolin	ENSG00000197321		0.488	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	116	0.00	0	G			29756715	29756715	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	missense	172	13.93	28	SNP	1.000	A
TCF19	6941	genome.wustl.edu	37	6	31127319	31127320	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr6:31127319_31127320insC	ENST00000376257.3	+	2	827_828	c.73_74insC	c.(73-75)gccfs	p.A25fs	CCHCR1_ENST00000396268.3_5'Flank|CCHCR1_ENST00000480060.1_5'Flank|CCHCR1_ENST00000376266.5_5'Flank|CCHCR1_ENST00000451521.2_5'Flank|TCF19_ENST00000376255.4_Frame_Shift_Ins_p.A25fs|CCHCR1_ENST00000396263.2_5'Flank	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	25					cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCACCCCCCCGCCGGGGCTGGC	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U25826	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	11629	protein-coding gene	gene with protein product		600912				1868030, 8595903	Standard	NM_001077511		Approved	SC1	uc003nss.3	Q9Y242	OTTHUMG00000031274	ENST00000376257.3:c.75dupC	6.37:g.31127321_31127321dupC	ENSP00000365433:p.Ala25fs		A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Frame_Shift_Ins	INS	pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom	p.G26fs	ENST00000376257.3	37	c.73_74	CCDS43446.1	6																																																																																			TCF19	-	superfamily_SMAD_FHA_domain	ENSG00000137310		0.693	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF19	HGNC	protein_coding	OTTHUMT00000076595.2	13	0.00	0	-	NM_007109		31127319	31127320	+1	no_errors	ENST00000376255	ensembl	human	known	69_37n	frame_shift_ins	7	30.00	3	INS	0.000:0.000	C
TIAM2	26230	genome.wustl.edu	37	6	155450938	155450938	+	Missense_Mutation	SNP	C	C	T	rs147519937		TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr6:155450938C>T	ENST00000461783.3	+	6	1854	c.581C>T	c.(580-582)cCg>cTg	p.P194L	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.P194L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P194L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P194L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P194L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	194					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCAGTGAGCCGGTGCAGCTG	0.602																																						dbGAP											0													37.0	35.0	36.0					6																	155450938		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.581C>T	6.37:g.155450938C>T	ENSP00000437188:p.Pro194Leu		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.P194L	ENST00000461783.3	37	c.581	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179209	0.57800	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.18174	2.29;2.23;2.35;2.29;2.39;2.35	4.93	4.93	0.64822	.	0.057684	0.64402	D	0.000001	T	0.33147	0.0853	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09228	-1.0684	10	0.87932	D	0	.	16.678	0.85284	0.0:1.0:0.0:0.0	.	194	Q8IVF5	TIAM2_HUMAN	L	194;440;194;194;194;194;194;194	ENSP00000437188:P194L;ENSP00000434901:P194L;ENSP00000407746:P194L;ENSP00000327315:P194L;ENSP00000353528:P194L;ENSP00000433348:P194L	ENSP00000327315:P194L	P	+	2	0	TIAM2	155492630	1.000000	0.71417	0.078000	0.20375	0.042000	0.13812	5.174000	0.65015	2.426000	0.82243	0.491000	0.48974	CCG	TIAM2	-	NULL	ENSG00000146426		0.602	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	28	0.00	0	C	NM_012454		155450938	155450938	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	0.994	T
TIMM44	10469	genome.wustl.edu	37	19	8006002	8006002	+	Silent	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr19:8006002G>A	ENST00000270538.3	-	2	394	c.126C>T	c.(124-126)ggC>ggT	p.G42G		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	42					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GCAGCTCTCCGCCCGGCCGGC	0.602																																						dbGAP											0													42.0	50.0	48.0					19																	8006002		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.126C>T	19.37:g.8006002G>A			A8K0R9|D6W664|Q8N193	Silent	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.G42	ENST00000270538.3	37	c.126	CCDS12192.1	19																																																																																			TIMM44	-	pirsf_Tim44	ENSG00000104980		0.602	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	76	0.00	0	G			8006002	8006002	-1	no_errors	ENST00000270538	ensembl	human	known	69_37n	silent	77	14.58	14	SNP	0.000	A
TMCC1	23023	genome.wustl.edu	37	3	129546708	129546708	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr3:129546708C>G	ENST00000393238.3	-	3	854	c.514G>C	c.(514-516)Gct>Cct	p.A172P	TMCC1_ENST00000426664.2_Missense_Mutation_p.A58P	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	172						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						gcagcaCAAGCTATTTCCATC	0.502																																						dbGAP											0													53.0	48.0	49.0					3																	129546708		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.514G>C	3.37:g.129546708C>G	ENSP00000376930:p.Ala172Pro		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.A172P	ENST00000393238.3	37	c.514	CCDS33855.1	3	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086748	0.55861	.	.	ENSG00000172765	ENST00000393238;ENST00000426664;ENST00000505616	T;T;T	0.50001	1.4;1.4;0.76	5.98	5.98	0.97165	.	0.140822	0.46758	D	0.000279	T	0.34077	0.0885	N	0.17082	0.46	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.06826	-1.0805	10	0.32370	T	0.25	-22.1093	15.8809	0.79205	0.0:0.8653:0.1347:0.0	.	172	O94876	TMCC1_HUMAN	P	172;58;58	ENSP00000376930:A172P;ENSP00000389892:A58P;ENSP00000422544:A58P	ENSP00000376930:A172P	A	-	1	0	TMCC1	131029398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.037000	0.41174	2.838000	0.97847	0.591000	0.81541	GCT	TMCC1	-	NULL	ENSG00000172765		0.502	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	108	0.00	0	C	NM_015008		129546708	129546708	-1	no_errors	ENST00000393238	ensembl	human	known	69_37n	missense	79	18.56	18	SNP	1.000	G
TMEM101	84336	genome.wustl.edu	37	17	42092199	42092199	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr17:42092199C>T	ENST00000589334.1	-	2	437	c.122G>A	c.(121-123)aGg>aAg	p.R41K	TMEM101_ENST00000206380.3_Missense_Mutation_p.R41K|TMEM101_ENST00000587529.1_Missense_Mutation_p.R41K|TMEM101_ENST00000542039.1_Intron			Q96IK0	TM101_HUMAN	transmembrane protein 101	41					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCCTCAGCCCTCTCAGCGTA	0.617																																						dbGAP											0													80.0	83.0	82.0					17																	42092199		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.122G>A	17.37:g.42092199C>T	ENSP00000468025:p.Arg41Lys		B2R9N6	Missense_Mutation	SNP	NULL	p.R41K	ENST00000589334.1	37	c.122	CCDS11474.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.262291	0.95368	.	.	ENSG00000091947	ENST00000206380	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	L	0.32530	0.975	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.61033	-0.7144	9	0.30854	T	0.27	-15.9247	17.3144	0.87218	0.0:1.0:0.0:0.0	.	41	Q96IK0	TM101_HUMAN	K	41	.	ENSP00000206380:R41K	R	-	2	0	TMEM101	39447725	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.245000	0.58734	2.686000	0.91538	0.591000	0.81541	AGG	TMEM101	-	NULL	ENSG00000091947		0.617	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	HGNC	protein_coding	OTTHUMT00000457665.1	25	0.00	0	C	NM_032376		42092199	42092199	-1	no_errors	ENST00000206380	ensembl	human	known	69_37n	missense	24	33.33	12	SNP	1.000	T
TNPO1	3842	genome.wustl.edu	37	5	72187661	72187661	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr5:72187661C>T	ENST00000337273.5	+	15	2152	c.1726C>T	c.(1726-1728)Cca>Tca	p.P576S	TNPO1_ENST00000454282.1_Missense_Mutation_p.P526S|TNPO1_ENST00000523768.1_Missense_Mutation_p.P526S|TNPO1_ENST00000506351.2_Missense_Mutation_p.P568S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	576					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCTAATGCCTCCACTGATCCA	0.328																																						dbGAP											0													128.0	127.0	127.0					5																	72187661		2203	4299	6502	-	-	-	SO:0001583	missense	0			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1726C>T	5.37:g.72187661C>T	ENSP00000336712:p.Pro576Ser		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.P576S	ENST00000337273.5	37	c.1726	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671709	0.88348	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.77406	2.37	0.80722	D	1	D;D	0.65815	0.995;0.992	P;P	0.62435	0.902;0.73	T	0.65265	-0.6210	10	0.62326	D	0.03	-9.6075	18.702	0.91623	0.0:1.0:0.0:0.0	.	526;576	Q92973-3;Q92973	.;TNPO1_HUMAN	S	576;526;526;568;87	ENSP00000336712:P576S;ENSP00000398524:P526S;ENSP00000428899:P526S;ENSP00000425118:P568S	ENSP00000336712:P576S	P	+	1	0	TNPO1	72223417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.418000	0.80167	2.503000	0.84419	0.650000	0.86243	CCA	TNPO1	-	superfamily_ARM-type_fold	ENSG00000083312		0.328	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	180	0.00	0	C	NM_002270		72187661	72187661	+1	no_errors	ENST00000337273	ensembl	human	known	69_37n	missense	158	16.84	32	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577566	7577567	+	Frame_Shift_Ins	INS	-	-	A	rs193920789		TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr17:7577566_7577567insA	ENST00000269305.4	-	7	903_904	c.714_715insT	c.(712-717)tgtaacfs	p.N239fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N239fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N239fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.N239fs	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.C238*(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.C238W(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAGT	0.574		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"""	103	Substitution - Missense(42)|Insertion - Frameshift(18)|Deletion - In frame(15)|Whole gene deletion(8)|Deletion - Frameshift(7)|Substitution - Nonsense(5)|Unknown(5)|Complex - frameshift(1)|Substitution - coding silent(1)|Insertion - In frame(1)	ovary(14)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(9)|lung(8)|biliary_tract(7)|large_intestine(7)|upper_aerodigestive_tract(6)|breast(6)|endometrium(5)|urinary_tract(5)|bone(5)|stomach(4)|prostate(2)|liver(1)|skin(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	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.715dupT	17.37:g.7577567_7577567dupA	ENSP00000269305:p.Asn239fs		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	Frame_Shift_Ins	INS	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.N238fs	ENST00000269305.4	37	c.715_714	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	195	0.00	0	-	NM_000546		7577566	7577567	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	156	33.90	80	INS	1.000:0.999	A
TSPAN13	27075	genome.wustl.edu	37	7	16816717	16816717	+	Silent	SNP	C	C	T	rs201308839		TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr7:16816717C>T	ENST00000262067.4	+	3	715	c.282C>T	c.(280-282)tgC>tgT	p.C94C	TSPAN13_ENST00000466195.1_3'UTR	NM_014399.3	NP_055214.1	O95857	TSN13_HUMAN	tetraspanin 13	94						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CTGTATCTTGCGCTTGTTTAG	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17607	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													120.0	114.0	116.0					7																	16816717		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF100759	CCDS5363.1	7p21.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000106537	ENSG00000106537		"""Tetraspanins"""	21643	protein-coding gene	gene with protein product		613139	"""transmembrane 4 superfamily member 13"""	TM4SF13			Standard	NM_014399		Approved	NET-6	uc003stq.3	O95857	OTTHUMG00000022968	ENST00000262067.4:c.282C>T	7.37:g.16816717C>T				Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.C94	ENST00000262067.4	37	c.282	CCDS5363.1	7																																																																																			TSPAN13	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	ENSG00000106537		0.328	TSPAN13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN13	HGNC	protein_coding	OTTHUMT00000250178.2	225	0.00	0	C	NM_014399		16816717	16816717	+1	no_errors	ENST00000262067	ensembl	human	known	69_37n	silent	179	14.35	30	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19404496	19404496	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr1:19404496C>G	ENST00000375254.3	-	104	15325	c.15298G>C	c.(15298-15300)Gtc>Ctc	p.V5100L	UBR4_ENST00000543981.1_Missense_Mutation_p.V764L|UBR4_ENST00000375226.2_Missense_Mutation_p.V5076L|UBR4_ENST00000375267.2_Missense_Mutation_p.V5100L|UBR4_ENST00000375224.1_Missense_Mutation_p.V807L|UBR4_ENST00000375225.3_Missense_Mutation_p.V175L|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000429347.2_Missense_Mutation_p.V623L|UBR4_ENST00000375217.2_Missense_Mutation_p.V5093L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5100					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGAGATCGACGAGGGCCCAA	0.483																																						dbGAP											0													134.0	99.0	111.0					1																	19404496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.15298G>C	1.37:g.19404496C>G	ENSP00000364403:p.Val5100Leu		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V5100L	ENST00000375254.3	37	c.15298	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389065	0.82902	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	L	0.35542	1.07	0.80722	D	1	D;D;D;D	0.54601	0.967;0.967;0.967;0.959	D;D;D;D	0.69479	0.964;0.964;0.964;0.94	T	0.45425	-0.9262	10	0.51188	T	0.08	.	18.2444	0.89979	0.0:1.0:0.0:0.0	.	764;623;5100;5076	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	L	5100;5100;5093;5076;175;807;623;764	ENSP00000364403:V5100L;ENSP00000364416:V5100L;ENSP00000364365:V5093L;ENSP00000364374:V5076L;ENSP00000364373:V175L;ENSP00000364372:V807L;ENSP00000394173:V623L;ENSP00000444070:V764L	ENSP00000364365:V5093L	V	-	1	0	UBR4	19277083	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.480000	0.66820	2.653000	0.90120	0.650000	0.86243	GTC	UBR4	-	NULL	ENSG00000127481		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	102	0.00	0	C	NM_020765		19404496	19404496	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	97	22.40	28	SNP	1.000	G
VAPA	9218	genome.wustl.edu	37	18	9931897	9931897	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr18:9931897G>C	ENST00000400000.2	+	2	425	c.170G>C	c.(169-171)cGc>cCc	p.R57P	VAPA_ENST00000340541.4_Missense_Mutation_p.R57P|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	57	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						ACAGCACCTCGCCGGTACTGT	0.413																																						dbGAP											0													86.0	90.0	88.0					18																	9931897		2143	4272	6415	-	-	-	SO:0001583	missense	0				CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.170G>C	18.37:g.9931897G>C	ENSP00000382880:p.Arg57Pro		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	pfam_Major_sperm,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_Major_sperm	p.R57P	ENST00000400000.2	37	c.170	CCDS11848.2	18	.	.	.	.	.	.	.	.	.	.	G	32	5.159404	0.94686	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.63580	-0.05;-0.05	5.57	5.57	0.84162	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.85388	0.5685	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.88303	0.2951	9	.	.	.	-7.473	19.9225	0.97093	0.0:0.0:1.0:0.0	.	57;57	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	P	57	ENSP00000345656:R57P;ENSP00000382880:R57P	.	R	+	2	0	VAPA	9921897	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.807000	0.99171	2.780000	0.95670	0.655000	0.94253	CGC	VAPA	-	pfam_Major_sperm,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_Major_sperm	ENSG00000101558		0.413	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPA	HGNC	protein_coding	OTTHUMT00000254490.1	143	0.00	0	G			9931897	9931897	+1	no_errors	ENST00000340541	ensembl	human	known	69_37n	missense	151	17.03	31	SNP	1.000	C
WDR76	79968	genome.wustl.edu	37	15	44149283	44149283	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr15:44149283C>A	ENST00000263795.6	+	10	1401	c.1331C>A	c.(1330-1332)aCc>aAc	p.T444N	WDR76_ENST00000381246.2_Missense_Mutation_p.T380N	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	444										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GAGAAACTTACCAGTTCTTCT	0.408																																						dbGAP											0													95.0	86.0	89.0					15																	44149283		2198	4298	6496	-	-	-	SO:0001583	missense	0			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1331C>A	15.37:g.44149283C>A	ENSP00000263795:p.Thr444Asn		A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.T444N	ENST00000263795.6	37	c.1331	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	C	3.632	-0.075419	0.07184	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.66638	-0.22;-0.22	4.91	2.46	0.29980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.803221	0.11615	N	0.546331	T	0.45696	0.1355	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28839	-1.0031	10	0.33940	T	0.23	-28.1633	6.5389	0.22369	0.0:0.2825:0.0:0.7175	.	444	Q9H967	WDR76_HUMAN	N	444;380	ENSP00000263795:T444N;ENSP00000370645:T380N	ENSP00000263795:T444N	T	+	2	0	WDR76	41936575	0.000000	0.05858	0.002000	0.10522	0.498000	0.33706	0.046000	0.14035	0.451000	0.26802	-0.300000	0.09419	ACC	WDR76	-	superfamily_WD40_repeat_dom	ENSG00000092470		0.408	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	148	0.00	0	C	NM_024908		44149283	44149283	+1	no_errors	ENST00000263795	ensembl	human	known	69_37n	missense	139	17.26	29	SNP	0.000	A
ZBED1	9189	genome.wustl.edu	37	X	2406918	2406918	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chrX:2406918G>A	ENST00000381223.4	-	2	2046	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615C|ZBED1_ENST00000381218.3_Missense_Mutation_p.R615C|ZBED1_ENST00000515319.1_5'UTR	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	615					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGCGACGCGCGTGGCCGTC	0.662																																						dbGAP											0													121.0	121.0	121.0					X																	2406918		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1843C>T	X.37:g.2406918G>A	ENSP00000370621:p.Arg615Cys		Q96BY4	Missense_Mutation	SNP	pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.R615C	ENST00000381223.4	37	c.1843	CCDS14118.1	X	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346313	0.24426	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22134	1.97;1.97;1.97	3.06	2.11	0.27256	HAT dimerisation (1);Ribonuclease H-like (1);	0.371038	0.23307	N	0.049612	T	0.38054	0.1026	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.66084	0.941	T	0.05582	-1.0876	9	0.59425	D	0.04	.	9.8173	0.40860	0.0:0.0:0.5893:0.4106	.	615	O96006	ZBED1_HUMAN	C	615	ENSP00000370621:R615C;ENSP00000370620:R615C;ENSP00000370616:R615C	ENSP00000370616:R615C	R	-	1	0	ZBED1	2416918	0.866000	0.29940	0.161000	0.22692	0.159000	0.22180	0.997000	0.29731	1.155000	0.42497	0.519000	0.50382	CGC	ZBED1	-	pfam_HATC,superfamily_RNaseH-like_dom	ENSG00000214717		0.662	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	97	0.00	0	G	NM_004729		2406918	2406918	-1	no_errors	ENST00000381218	ensembl	human	known	69_37n	missense	38	48.68	37	SNP	0.806	A
ZFR	51663	genome.wustl.edu	37	5	32397416	32397416	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0E6-01A-11W-A050-09	TCGA-BH-A0E6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c55939a-ae58-4ed9-8a6e-01bae8ac12f7	d4833cef-9a84-4e99-a96c-54ba25876fda	g.chr5:32397416C>T	ENST00000265069.8	-	10	1844	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	MIR579_ENST00000385221.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	581					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ACAATGGAACCGAATTACTTT	0.343																																						dbGAP											0													133.0	130.0	131.0					5																	32397416		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1742G>A	5.37:g.32397416C>T	ENSP00000265069:p.Arg581Gln		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.R581Q	ENST00000265069.8	37	c.1742	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479114	0.84747	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.43294	0.95	5.65	4.78	0.61160	Zinc finger, U1-type (1);	0.050005	0.85682	D	0.000000	T	0.47229	0.1434	L	0.43923	1.385	0.58432	D	0.999998	D	0.71674	0.998	P	0.52066	0.689	T	0.39333	-0.9619	10	0.35671	T	0.21	.	16.0417	0.80687	0.1353:0.8647:0.0:0.0	.	581	Q96KR1	ZFR_HUMAN	Q	581;559	ENSP00000265069:R581Q	ENSP00000265069:R581Q	R	-	2	0	ZFR	32433173	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.723000	0.84788	1.377000	0.46286	0.591000	0.81541	CGG	ZFR	-	pfam_Znf_C2H2_jaz,smart_Znf_U1	ENSG00000056097		0.343	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	103	0.00	0	C			32397416	32397416	-1	no_errors	ENST00000265069	ensembl	human	known	69_37n	missense	115	15.44	21	SNP	1.000	T
