#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
ACE	1636	genome.wustl.edu	37	17	61562387	61562387	+	Intron	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:61562387C>A	ENST00000290866.4	+	13	1945				ACE_ENST00000490216.2_Silent_p.T53T|ACE_ENST00000413513.3_Silent_p.T53T|ACE_ENST00000421982.2_Intron|ACE_ENST00000577647.1_Silent_p.T53T|ACE_ENST00000428043.1_Intron|ACE_ENST00000290863.6_Silent_p.T53T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGACAACCACCCACCAGGCGA	0.682																																						dbGAP											0													54.0	71.0	65.0					17																	61562387		2162	4246	6408	-	-	-	SO:0001627	intron_variant	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1922-210C>A	17.37:g.61562387C>A			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.T53	ENST00000290866.4	37	c.159	CCDS11637.1	17																																																																																			ACE	-	NULL	ENSG00000159640		0.682	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	57	0.00	0	C			61562387	61562387	+1	no_errors	ENST00000490216	ensembl	human	known	69_37n	silent	28	15.15	5	SNP	0.001	A
ADCY3	109	genome.wustl.edu	37	2	25046212	25046212	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:25046212G>T	ENST00000260600.5	-	17	3600	c.2749C>A	c.(2749-2751)Cag>Aag	p.Q917K	ADCY3_ENST00000405392.1_Missense_Mutation_p.Q504K|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	917					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)|cellular response to glucagon stimulus (GO:0071377)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|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)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATACGTCTGGCTATACAGC	0.478																																						dbGAP											0													130.0	99.0	110.0					2																	25046212		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2749C>A	2.37:g.25046212G>T	ENSP00000260600:p.Gln917Lys		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q917K	ENST00000260600.5	37	c.2749	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.543868	0.96474	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.29655	1.56;1.56	5.55	5.55	0.83447	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	L	0.50847	1.595	0.80722	D	1	D;P;B	0.63880	0.993;0.93;0.207	P;B;B	0.60609	0.877;0.433;0.092	T	0.42068	-0.9473	10	0.72032	D	0.01	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	918;917;504	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	K	917;504;892	ENSP00000260600:Q917K;ENSP00000384484:Q504K	ENSP00000260600:Q917K	Q	-	1	0	ADCY3	24899716	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.641000	0.98458	2.894000	0.99253	0.655000	0.94253	CAG	ADCY3	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000138031		0.478	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	71	0.00	0	G			25046212	25046212	-1	no_errors	ENST00000260600	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
AGMO	392636	genome.wustl.edu	37	7	15458245	15458245	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr7:15458245G>T	ENST00000342526.3	-	5	716	c.547C>A	c.(547-549)Cct>Act	p.P183T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	183					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.P183N(1)|p.P183T(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TATACTGAAGGGGGTATGAAG	0.299																																						dbGAP											2	Substitution - Missense(2)	lung(2)											38.0	46.0	43.0					7																	15458245		2199	4294	6493	-	-	-	SO:0001583	missense	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.547C>A	7.37:g.15458245G>T	ENSP00000341662:p.Pro183Thr		A4D114|A6NCH5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.P183T	ENST00000342526.3	37	c.547	CCDS34604.1	7	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840304	0.71488	.	.	ENSG00000187546	ENST00000342526	D	0.84146	-1.81	5.8	4.92	0.64577	Fatty acid hydroxylase (1);	0.055259	0.85682	D	0.000000	D	0.93396	0.7894	M	0.90198	3.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94280	0.7519	10	0.59425	D	0.04	-20.3061	14.6509	0.68797	0.0695:0.0:0.9305:0.0	.	183	Q6ZNB7	ALKMO_HUMAN	T	183	ENSP00000341662:P183T	ENSP00000341662:P183T	P	-	1	0	AGMO	15424770	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.874000	0.69652	1.455000	0.47813	0.591000	0.81541	CCT	AGMO	-	pfam_Fatty_acid_hydroxylase	ENSG00000187546		0.299	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	36	0.00	0	G	NM_001004320		15458245	15458245	-1	no_errors	ENST00000342526	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	T
AHDC1	27245	genome.wustl.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:27875353_27875355delAGG	ENST00000247087.5	-	5	3868_3870	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1091del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3272_3274delCCT	1.37:g.27875362_27875364delAGG	ENSP00000247087:p.Ser1091del		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	NULL	p.S1091in_frame_del	ENST00000247087.5	37	c.3274_3272	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.665	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	60	0.00	0	AGG			27875353	27875355	-1	no_errors	ENST00000247087	ensembl	human	known	69_37n	in_frame_del	33	10.81	4	DEL	1.000:1.000:1.000	-
APOB	338	genome.wustl.edu	37	2	21229322	21229322	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:21229322G>A	ENST00000233242.1	-	26	10545	c.10418C>T	c.(10417-10419)gCt>gTt	p.A3473V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3473	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCCTTTAGCGGTAGAGTA	0.403																																						dbGAP											0													99.0	100.0	100.0					2																	21229322		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10418C>T	2.37:g.21229322G>A	ENSP00000233242:p.Ala3473Val		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A3473V	ENST00000233242.1	37	c.10418	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329030	0.41197	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79940	-1.32	5.74	4.87	0.63330	.	0.101254	0.43110	N	0.000605	D	0.86719	0.6000	M	0.73962	2.25	0.80722	D	1	D	0.60160	0.987	P	0.61722	0.893	D	0.87485	0.2423	10	0.72032	D	0.01	.	10.2602	0.43423	0.071:0.1355:0.7935:0.0	.	3473	P04114	APOB_HUMAN	V	3473	ENSP00000233242:A3473V	ENSP00000233242:A3473V	A	-	2	0	APOB	21082827	0.984000	0.35163	0.344000	0.25628	0.363000	0.29612	2.591000	0.46163	1.417000	0.47077	0.655000	0.94253	GCT	APOB	-	NULL	ENSG00000084674		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	38	0.00	0	G			21229322	21229322	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.860	A
ATP7B	540	genome.wustl.edu	37	13	52518395	52518395	+	Silent	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr13:52518395G>T	ENST00000242839.4	-	14	3249	c.3093C>A	c.(3091-3093)acC>acA	p.T1031T	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.T824T|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000400370.3_Silent_p.T601T|ATP7B_ENST00000418097.2_Silent_p.T966T|ATP7B_ENST00000400366.3_Silent_p.T920T|ATP7B_ENST00000448424.2_Silent_p.T953T	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1031			T -> I (in WD). {ECO:0000269|PubMed:9887381}.		cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CATGGGTAATGGTGCCAGTCT	0.562									Wilson disease																													dbGAP											0													41.0	45.0	44.0					13																	52518395		2054	4204	6258	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3093C>A	13.37:g.52518395G>T			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.T1031	ENST00000242839.4	37	c.3093	CCDS41892.1	13																																																																																			ATP7B	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal	ENSG00000123191		0.562	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	100	0.00	0	G	NM_000053		52518395	52518395	-1	no_errors	ENST00000242839	ensembl	human	known	69_37n	silent	35	10.26	4	SNP	1.000	T
BBC3	27113	genome.wustl.edu	37	19	47725123	47725123	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr19:47725123T>C	ENST00000439096.2	-	4	798	c.518A>G	c.(517-519)aAt>aGt	p.N173S	BBC3_ENST00000449228.1_Silent_p.Q207Q|BBC3_ENST00000300880.7_Silent_p.Q47Q|BBC3_ENST00000341983.4_Missense_Mutation_p.N111S	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	173					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		CATGATGAGATTGTACAGGAC	0.627																																						dbGAP											0													53.0	52.0	52.0					19																	47725123		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.518A>G	19.37:g.47725123T>C	ENSP00000395862:p.Asn173Ser		B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	NULL	p.N173S	ENST00000439096.2	37	c.518	CCDS12697.1	19	.	.	.	.	.	.	.	.	.	.	t	18.40	3.614662	0.66672	.	.	ENSG00000105327	ENST00000439096;ENST00000341983	.	.	.	4.68	4.68	0.58851	.	0.000000	0.43579	D	0.000547	T	0.56396	0.1982	.	.	.	0.20975	N	0.999817	D;P	0.64830	0.994;0.932	P;P	0.60789	0.879;0.453	T	0.52290	-0.8595	8	0.87932	D	0	.	10.4298	0.44400	0.0:0.0:0.0:1.0	.	111;173	Q9BXH1-2;Q9BXH1	.;BBC3_HUMAN	S	173;111	.	ENSP00000341155:N111S	N	-	2	0	BBC3	52416963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.616000	0.54174	1.964000	0.57103	0.533000	0.62120	AAT	BBC3	-	NULL	ENSG00000105327		0.627	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BBC3	HGNC	protein_coding	OTTHUMT00000466874.1	112	0.00	0	T	NM_014417		47725123	47725123	-1	no_errors	ENST00000439096	ensembl	human	known	69_37n	missense	49	39.51	32	SNP	1.000	C
C11orf63	79864	genome.wustl.edu	37	11	122805129	122805129	+	Splice_Site	SNP	A	A	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr11:122805129A>T	ENST00000531316.1	+	4	1072	c.980A>T	c.(979-981)aAt>aTt	p.N327I	C11orf63_ENST00000227349.2_Splice_Site_p.N327I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	327					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCTCTTTAGAATTACCAGGAA	0.289																																						dbGAP											0													30.0	30.0	30.0					11																	122805129		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.979-1A>T	11.37:g.122805129A>T			A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.N327I	ENST00000531316.1	37	c.980	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548632	0.45383	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.47869	0.83;0.83	5.46	5.46	0.80206	.	0.315654	0.27031	N	0.021272	T	0.59932	0.2230	L	0.57536	1.79	0.34714	D	0.728051	D	0.55385	0.971	P	0.58454	0.839	T	0.72487	-0.4278	10	0.62326	D	0.03	-9.6843	12.8985	0.58113	1.0:0.0:0.0:0.0	.	327	Q6NUN7	CK063_HUMAN	I	327	ENSP00000227349:N327I;ENSP00000431669:N327I	ENSP00000227349:N327I	N	+	2	0	C11orf63	122310339	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	1.162000	0.31786	2.067000	0.61834	0.477000	0.44152	AAT	C11orf63	-	NULL	ENSG00000109944		0.289	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	61	0.00	0	A	NM_024806	Missense_Mutation	122805129	122805129	+1	no_errors	ENST00000227349	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	1.000	T
CAPN2	824	genome.wustl.edu	37	1	223900497	223900497	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:223900497C>A	ENST00000295006.5	+	1	464	c.155C>A	c.(154-156)cCg>cAg	p.P52Q	CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	52	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CCGTCCTTCCCGGCCATCCCC	0.677																																						dbGAP											0													21.0	22.0	21.0					1																	223900497		2201	4294	6495	-	-	-	SO:0001583	missense	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.155C>A	1.37:g.223900497C>A	ENSP00000295006:p.Pro52Gln		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.P52Q	ENST00000295006.5	37	c.155	CCDS31035.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124763	0.56613	.	.	ENSG00000162909	ENST00000295006;ENST00000366869	T	0.58652	0.32	3.88	3.88	0.44766	Peptidase C2, calpain, catalytic domain (3);	0.319660	0.28790	U	0.014129	D	0.82623	0.5077	H	0.96460	3.825	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.89357	0.3665	10	0.87932	D	0	.	16.2044	0.82114	0.0:1.0:0.0:0.0	.	52	P17655	CAN2_HUMAN	Q	52;81	ENSP00000295006:P52Q	ENSP00000295006:P52Q	P	+	2	0	CAPN2	221967120	0.997000	0.39634	0.631000	0.29282	0.177000	0.22998	3.577000	0.53885	1.862000	0.54008	0.491000	0.48974	CCG	CAPN2	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	ENSG00000162909		0.677	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	46	0.00	0	C	NM_001748		223900497	223900497	+1	no_errors	ENST00000295006	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	0.988	A
CCDC40	55036	genome.wustl.edu	37	17	78064032	78064032	+	Intron	SNP	A	A	G	rs371158080	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:78064032A>G	ENST00000397545.4	+	17	2859				CCDC40_ENST00000573903.1_Intron|CCDC40_ENST00000374877.3_Missense_Mutation_p.Q976R	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ggacgcgcgcaggcacgtgca	0.647													a|||	176	0.0351438	0.0651	0.0951	5008	,	,		17231	0.005		0.003	False		,,,				2504	0.0164					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2832+349A>G	17.37:g.78064032A>G			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.Q976R	ENST00000397545.4	37	c.2927	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	a	8.687	0.906563	0.17833	.	.	ENSG00000141519	ENST00000374877	T	0.46451	0.87	.	.	.	.	.	.	.	.	T	0.32971	0.0847	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28776	-1.0033	4	0.38643	T	0.18	.	.	.	.	.	.	.	.	R	976	ENSP00000364011:Q976R	ENSP00000364011:Q976R	Q	+	2	0	CCDC40	75678627	0.006000	0.16342	0.006000	0.13384	0.006000	0.05464	0.086000	0.14935	0.077000	0.16863	0.076000	0.15429	CAG	CCDC40	-	NULL	ENSG00000141519		0.647	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	67	0.00	0	A	XM_371082		78064032	78064032	+1	no_errors	ENST00000374877	ensembl	human	known	69_37n	missense	14	51.72	15	SNP	0.006	G
CLSTN3	9746	genome.wustl.edu	37	12	7303269	7303269	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr12:7303269A>G	ENST00000266546.6	+	15	2825	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	CLSTN3_ENST00000537408.1_Missense_Mutation_p.N804S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	792					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TACTCCAGCAATGAATTCATC	0.542																																						dbGAP											0													85.0	85.0	85.0					12																	7303269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2375A>G	12.37:g.7303269A>G	ENSP00000266546:p.Asn792Ser		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N792S	ENST00000266546.6	37	c.2375	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	A	25.7	4.665792	0.88251	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.34072	1.38;1.38	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.77103	2.36	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.70935	0.956;0.971	T	0.64672	-0.6352	10	0.54805	T	0.06	-26.6936	15.3937	0.74774	1.0:0.0:0.0:0.0	.	804;792	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	S	792;804	ENSP00000266546:N792S;ENSP00000440679:N804S	ENSP00000266546:N792S	N	+	2	0	CLSTN3	7194536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.257000	0.95545	2.095000	0.63458	0.374000	0.22700	AAT	CLSTN3	-	NULL	ENSG00000139182		0.542	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	51	0.00	0	A	NM_014718		7303269	7303269	+1	no_errors	ENST00000266546	ensembl	human	known	69_37n	missense	19	44.12	15	SNP	1.000	G
COL4A1	1282	genome.wustl.edu	37	13	110847433	110847433	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr13:110847433C>A	ENST00000375820.4	-	22	1439	c.1318G>T	c.(1318-1320)Ggt>Tgt	p.G440C	COL4A1_ENST00000543140.1_Missense_Mutation_p.G440C	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	440	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTGGTCACCTGGAGGTCCG	0.433																																						dbGAP											0													49.0	54.0	52.0					13																	110847433		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1318G>T	13.37:g.110847433C>A	ENSP00000364979:p.Gly440Cys		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G440C	ENST00000375820.4	37	c.1318	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255563	0.59321	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99637	-5.78;-6.29	5.49	5.49	0.81192	.	0.057499	0.64402	D	0.000002	D	0.99796	0.9913	H	0.97214	3.96	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96984	0.9717	10	0.87932	D	0	.	16.9032	0.86118	0.0:1.0:0.0:0.0	.	440	P02462	CO4A1_HUMAN	C	434;440;440;440	ENSP00000364979:G440C;ENSP00000443348:G440C	ENSP00000364973:G434C	G	-	1	0	COL4A1	109645434	0.985000	0.35326	0.175000	0.22980	0.993000	0.82548	4.570000	0.60872	2.583000	0.87209	0.561000	0.74099	GGT	COL4A1	-	pfam_Collagen	ENSG00000187498		0.433	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	53	0.00	0	C			110847433	110847433	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.872	A
COL4A2	1284	genome.wustl.edu	37	13	111143635	111143635	+	Silent	SNP	G	G	C			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr13:111143635G>C	ENST00000360467.5	+	37	3708	c.3402G>C	c.(3400-3402)ggG>ggC	p.G1134G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1134	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1134G(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCTTCCCTGGGATAACAGGCG	0.562																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											57.0	60.0	59.0					13																	111143635		2017	4172	6189	-	-	-	SO:0001819	synonymous_variant	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3402G>C	13.37:g.111143635G>C			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1134	ENST00000360467.5	37	c.3402	CCDS41907.1	13																																																																																			COL4A2	-	pfam_Collagen	ENSG00000134871		0.562	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	42	0.00	0	G	NM_001846		111143635	111143635	+1	no_errors	ENST00000360467	ensembl	human	known	69_37n	silent	18	41.94	13	SNP	0.492	C
COL4A5	1287	genome.wustl.edu	37	X	107834821	107834822	+	Frame_Shift_Ins	INS	-	-	C	rs281874665|rs281874666|rs104886321|rs104886113		TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chrX:107834821_107834822insC	ENST00000361603.2	+	21	1614_1615	c.1370_1371insC	c.(1369-1374)ggccccfs	p.GP457fs	COL4A5_ENST00000328300.6_Frame_Shift_Ins_p.GP457fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	457	Triple-helical region.		Missing (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGAT	0.406									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											0			GRCh37	CD961911	COL4A5	D																																				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1376dupC	X.37:g.107834827_107834827dupC	ENSP00000354505:p.Gly457fs		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Ins	INS	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G460fs	ENST00000361603.2	37	c.1370_1371	CCDS14543.1	X																																																																																			COL4A5	-	NULL	ENSG00000188153		0.406	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	89	0.00	0	-			107834821	107834822	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	frame_shift_ins	51	28.17	20	INS	0.871:0.765	C
CSMD2	114784	genome.wustl.edu	37	1	34011768	34011768	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:34011768C>T	ENST00000373381.4	-	57	9145	c.8969G>A	c.(8968-8970)cGt>cAt	p.R2990H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2963	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2846H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCCCAAACGGATGCCATG	0.567																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											59.0	53.0	55.0					1																	34011768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8969G>A	1.37:g.34011768C>T	ENSP00000362479:p.Arg2990His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R2990H	ENST00000373381.4	37	c.8969		1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056281	0.76074	.	.	ENSG00000121904	ENST00000373381	T	0.64803	-0.12	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.061352	0.64402	D	0.000003	T	0.67664	0.2917	M	0.69523	2.12	0.80722	D	1	P;B	0.46457	0.878;0.139	P;B	0.46339	0.513;0.072	T	0.68685	-0.5343	10	0.36615	T	0.2	.	17.4042	0.87469	0.0:1.0:0.0:0.0	.	2846;2990	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	2990	ENSP00000362479:R2990H	ENSP00000241312:R2846H	R	-	2	0	CSMD2	33784355	1.000000	0.71417	0.951000	0.38953	0.596000	0.36781	7.629000	0.83207	2.591000	0.87537	0.650000	0.86243	CGT	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		57	0.00	0	C	NM_052896		34011768	34011768	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	1.000	T
DKC1	1736	genome.wustl.edu	37	X	154002897	154002897	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chrX:154002897G>T	ENST00000369550.5	+	12	1386	c.1176G>T	c.(1174-1176)atG>atT	p.M392I	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	392					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGAAGCTGATGATCAAGCAGG	0.502									Congenital Dyskeratosis																													dbGAP											0													91.0	68.0	76.0					X																	154002897		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1176G>T	X.37:g.154002897G>T	ENSP00000358563:p.Met392Ile		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451	p.M392I	ENST00000369550.5	37	c.1176	CCDS14761.1	X	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739913	0.69304	.	.	ENSG00000130826	ENST00000369550	D	0.96168	-3.93	5.5	5.5	0.81552	.	0.036256	0.85682	D	0.000000	D	0.94981	0.8376	M	0.84326	2.69	0.80722	D	1	B;B	0.31125	0.309;0.309	B;B	0.20384	0.029;0.029	D	0.94409	0.7630	10	0.87932	D	0	-35.2052	16.9591	0.86267	0.0:0.0:1.0:0.0	.	392;392	A8MUT5;O60832	.;DKC1_HUMAN	I	392	ENSP00000358563:M392I	ENSP00000358563:M392I	M	+	3	0	DKC1	153656091	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.372000	0.97165	2.317000	0.78254	0.600000	0.82982	ATG	DKC1	-	NULL	ENSG00000130826		0.502	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	58	0.00	0	G	NM_001363		154002897	154002897	+1	no_errors	ENST00000369550	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	1.000	T
DNMT3A	1788	genome.wustl.edu	37	2	25469630	25469630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:25469630delC	ENST00000264709.3	-	10	1475	c.1138delG	c.(1138-1140)gcgfs	p.A380fs	DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.A191fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.A157fs|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.A380fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	380	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTCCCCGCGCGGCTGCTG	0.637			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													66.0	67.0	67.0					2																	25469630		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1138delG	2.37:g.25469630delC	ENSP00000264709:p.Ala380fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.A380fs	ENST00000264709.3	37	c.1138	CCDS33157.1	2																																																																																			DNMT3A	-	NULL	ENSG00000119772		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	31	0.00	0	C	NM_022552		25469630	25469630	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	frame_shift_del	9	40.00	6	DEL	0.983	-
DNMT3A	1788	genome.wustl.edu	37	2	25469632	25469632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:25469632delC	ENST00000264709.3	-	10	1473	c.1136delG	c.(1135-1137)cgcfs	p.R379fs	DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.R190fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.R156fs|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.R379fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	379	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCCCGCGCGGCTGCTGGC	0.632			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													63.0	65.0	65.0					2																	25469632		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1136delG	2.37:g.25469632delC	ENSP00000264709:p.Arg379fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.R379fs	ENST00000264709.3	37	c.1136	CCDS33157.1	2																																																																																			DNMT3A	-	NULL	ENSG00000119772		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	28	0.00	0	C	NM_022552		25469632	25469632	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	frame_shift_del	7	42.86	6	DEL	0.997	-
DNMT3L	29947	genome.wustl.edu	37	21	45670991	45670991	+	Intron	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr21:45670991C>A	ENST00000418993.1	-	10	1253				AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000270172.3_Intron	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like						chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GAGGGATCCCCCTGCCCCTGT	0.667																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.770-159G>T	21.37:g.45670991C>A			E9PB42|Q9BUJ4	Missense_Mutation	SNP	NULL	p.G44V	ENST00000418993.1	37	c.131	CCDS46650.1	21	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888542	0.17540	.	.	ENSG00000142182	ENST00000436357	.	.	.	1.44	-2.06	0.07298	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	2.6855	0.05106	0.0:0.3507:0.2589:0.3904	.	.	.	.	V	44	.	.	G	-	2	0	DNMT3L	44495419	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.174000	0.16743	-0.727000	0.04888	0.305000	0.20034	GGG	DNMT3L	-	NULL	ENSG00000142182		0.667	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1	36	0.00	0	C	NM_013369		45670991	45670991	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000436357	ensembl	human	putative	69_37n	missense	17	19.05	4	SNP	0.000	A
EFTUD2	9343	genome.wustl.edu	37	17	42928692	42928692	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:42928692T>C	ENST00000426333.2	-	28	3166	c.2869A>G	c.(2869-2871)Atg>Gtg	p.M957V	EFTUD2_ENST00000592576.1_Missense_Mutation_p.M947V|EFTUD2_ENST00000402521.3_Missense_Mutation_p.M922V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.M957V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	957					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.M957V(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCCAGCAACATAGGATCATCG	0.522																																					Ovarian(10;65 485 10258 29980 30707)	dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											199.0	173.0	182.0					17																	42928692		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2869A>G	17.37:g.42928692T>C	ENSP00000392094:p.Met957Val		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.M957V	ENST00000426333.2	37	c.2869	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992693	0.54041	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.70631	-0.5;-0.48	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.82923	2.615	0.80722	D	1	P;P	0.51147	0.942;0.942	P;P	0.50537	0.643;0.643	D	0.84003	0.0344	10	0.87932	D	0	-39.9086	16.2285	0.82315	0.0:0.0:0.0:1.0	.	947;957	B4DMC0;Q15029	.;U5S1_HUMAN	V	957;947;922	ENSP00000392094:M957V;ENSP00000385873:M922V	ENSP00000262414:M947V	M	-	1	0	EFTUD2	40284218	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.542000	0.82095	2.235000	0.73313	0.460000	0.39030	ATG	EFTUD2	-	NULL	ENSG00000108883		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	32	0.00	0	T	NM_004247		42928692	42928692	-1	no_errors	ENST00000426333	ensembl	human	known	69_37n	missense	13	18.75	3	SNP	1.000	C
EPAS1	2034	genome.wustl.edu	37	2	46574117	46574117	+	Silent	SNP	C	C	A	rs566608329		TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:46574117C>A	ENST00000263734.3	+	2	642	c.132C>A	c.(130-132)ccC>ccA	p.P44P	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	44	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGCCTCTGCCCCACAGTGTGA	0.622																																						dbGAP											0													122.0	112.0	115.0					2																	46574117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.132C>A	2.37:g.46574117C>A			Q86VA2|Q99630	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS	p.P44	ENST00000263734.3	37	c.132	CCDS1825.1	2																																																																																			EPAS1	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000116016		0.622	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	92	0.00	0	C	NM_001430		46574117	46574117	+1	no_errors	ENST00000263734	ensembl	human	known	69_37n	silent	30	14.29	5	SNP	0.014	A
EXOC2	55770	genome.wustl.edu	37	6	619510	619510	+	Silent	SNP	T	T	C	rs564498780	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr6:619510T>C	ENST00000230449.4	-	5	591	c.456A>G	c.(454-456)ctA>ctG	p.L152L	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	152					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCCATGGAATAGCATTTCTA	0.353													T|||	2	0.000399361	0.0	0.0	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													121.0	121.0	121.0					6																	619510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.456A>G	6.37:g.619510T>C			B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.L152	ENST00000230449.4	37	c.456	CCDS34327.1	6																																																																																			EXOC2	-	NULL	ENSG00000112685		0.353	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	63	0.00	0	T	NM_018303		619510	619510	-1	no_errors	ENST00000230449	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.939	C
FAM20A	54757	genome.wustl.edu	37	17	66533883	66533883	+	Splice_Site	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:66533883C>A	ENST00000592554.1	-	11	2084		c.e11-1		PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_Splice_Site	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A						calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CTTTTTTATCCTGAAAAGACA	0.438																																						dbGAP											0													42.0	40.0	40.0					17																	66533883		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1362-1G>T	17.37:g.66533883C>A			B2RN47|B2RN49|Q9UF95	Splice_Site	SNP	-	e11-1	ENST00000592554.1	37	c.1362-1	CCDS11679.1	17	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924203	0.73213	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.073	0.97731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM20A	64045478	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.475000	0.81041	2.740000	0.93945	0.555000	0.69702	.	FAM20A	-	-	ENSG00000108950		0.438	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	36	0.00	0	C	NM_017565	Intron	66533883	66533883	-1	no_errors	ENST00000592554	ensembl	human	known	69_37n	splice_site	18	14.29	3	SNP	1.000	A
GALNT6	11226	genome.wustl.edu	37	12	51758037	51758037	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr12:51758037A>G	ENST00000543196.2	-	5	1122	c.917T>C	c.(916-918)tTt>tCt	p.F306S	GALNT6_ENST00000356317.3_Missense_Mutation_p.F306S			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	306					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCGAACTCAAAAGTATTAAG	0.577																																						dbGAP											0													91.0	85.0	87.0					12																	51758037		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.917T>C	12.37:g.51758037A>G	ENSP00000444171:p.Phe306Ser		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F306S	ENST00000543196.2	37	c.917	CCDS8813.1	12	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379557	0.82682	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.59083	0.29;0.29	4.59	4.59	0.56863	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.83151	0.5192	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88625	0.3165	10	0.87932	D	0	.	13.8986	0.63787	1.0:0.0:0.0:0.0	.	306	Q8NCL4	GALT6_HUMAN	S	306;306;287	ENSP00000444171:F306S;ENSP00000348668:F306S	ENSP00000348668:F306S	F	-	2	0	GALNT6	50044304	1.000000	0.71417	0.962000	0.40283	0.740000	0.42216	7.163000	0.77524	2.288000	0.76882	0.533000	0.62120	TTT	GALNT6	-	pfam_Glyco_trans_2	ENSG00000139629		0.577	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	221	0.45	1	A	NM_007210		51758037	51758037	-1	no_errors	ENST00000356317	ensembl	human	known	69_37n	missense	114	11.63	15	SNP	1.000	G
GSDMC	56169	genome.wustl.edu	37	8	130789734	130789734	+	Missense_Mutation	SNP	G	G	A	rs550446533		TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr8:130789734G>A	ENST00000276708.4	-	2	981	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ACAAACTGACGTAATTTGGTG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22366	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													173.0	161.0	165.0					8																	130789734		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.100C>T	8.37:g.130789734G>A	ENSP00000276708:p.Arg34Cys		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.R34C	ENST00000276708.4	37	c.100	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185835	0.21870	.	.	ENSG00000147697	ENST00000276708	T	0.26223	1.75	4.01	2.2	0.27929	.	0.838261	0.10237	N	0.698925	T	0.18635	0.0447	L	0.38175	1.15	0.09310	N	1	B	0.31351	0.32	B	0.26614	0.071	T	0.18524	-1.0334	10	0.49607	T	0.09	.	7.0968	0.25315	0.1843:0.0:0.8157:0.0	.	34	Q9BYG8	GSDMC_HUMAN	C	34	ENSP00000276708:R34C	ENSP00000276708:R34C	R	-	1	0	GSDMC	130858916	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.499000	0.22546	0.483000	0.27608	0.491000	0.48974	CGT	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.403	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	131	0.00	0	G			130789734	130789734	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	missense	31	32.61	15	SNP	0.000	A
GTF2IRD2B	389524	genome.wustl.edu	37	7	74564167	74564167	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr7:74564167G>T	ENST00000312575.7	+	16	2089	c.1914G>T	c.(1912-1914)agG>agT	p.R638S	GTF2IRD2B_ENST00000418185.2_Missense_Mutation_p.R185S	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						tgaagtccagggtggcgacgt	0.512																																						dbGAP											0													34.0	34.0	34.0					7																	74564167		2202	4278	6480	-	-	-	SO:0001583	missense	0			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.1914G>T	7.37:g.74564167G>T	ENSP00000308080:p.Arg638Ser		B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.R638S	ENST00000312575.7	37	c.1914	CCDS34659.1	7	.	.	.	.	.	.	.	.	.	.	G	3.303	-0.142416	0.06669	.	.	ENSG00000174428	ENST00000312575;ENST00000418185;ENST00000412484	D;D	0.84146	-1.81;-1.81	1.53	0.613	0.17597	Ribonuclease H-like (1);	.	.	.	.	T	0.75744	0.3891	L	0.50333	1.59	0.09310	N	1	B;B	0.16603	0.013;0.018	B;B	0.14578	0.009;0.011	T	0.56486	-0.7971	9	0.16896	T	0.51	-16.5766	4.0087	0.09613	0.2327:0.0:0.7673:0.0	.	133;638	Q86Y00;Q6EKJ0	.;GTD2B_HUMAN	S	638;185;53	ENSP00000308080:R638S;ENSP00000411454:R185S	ENSP00000308080:R638S	R	+	3	2	GTF2IRD2B	74202103	0.999000	0.42202	0.085000	0.20634	0.366000	0.29705	0.985000	0.29578	0.213000	0.20722	0.430000	0.28490	AGG	GTF2IRD2B	-	superfamily_RNaseH-like_dom	ENSG00000174428		0.512	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2B	HGNC	protein_coding	OTTHUMT00000342728.1	45	0.00	0	G	NM_001003795		74564167	74564167	+1	no_errors	ENST00000312575	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.106	T
HIVEP2	3097	genome.wustl.edu	37	6	143075010	143075010	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr6:143075010C>T	ENST00000367604.1	-	9	7214	c.6575G>A	c.(6574-6576)gGt>gAt	p.G2192D	HIVEP2_ENST00000367603.2_Missense_Mutation_p.G2192D|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G2192D			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCATAAGCACCTTCTTGGTC	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0													82.0	82.0	82.0					6																	143075010		1903	4120	6023	-	-	-	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6575G>A	6.37:g.143075010C>T	ENSP00000356576:p.Gly2192Asp		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G2192D	ENST00000367604.1	37	c.6575	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096118	0.20552	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02421	4.3;4.3;4.3	5.51	5.51	0.81932	.	0.285831	0.41097	D	0.000954	T	0.06371	0.0164	L	0.54323	1.7	0.44188	D	0.997005	D	0.71674	0.998	D	0.64687	0.928	T	0.24440	-1.0160	10	0.49607	T	0.09	-17.3435	14.9514	0.71077	0.0:0.8575:0.1425:0.0	.	2192	P31629	ZEP2_HUMAN	D	2192	ENSP00000356576:G2192D;ENSP00000356575:G2192D;ENSP00000012134:G2192D	ENSP00000012134:G2192D	G	-	2	0	HIVEP2	143116703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.133000	0.57983	2.606000	0.88127	0.655000	0.94253	GGT	HIVEP2	-	NULL	ENSG00000010818		0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	39	0.00	0	C			143075010	143075010	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	1.000	T
HMGXB4	10042	genome.wustl.edu	37	22	35661431	35661431	+	Silent	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr22:35661431C>A	ENST00000216106.5	+	5	1178	c.1050C>A	c.(1048-1050)gcC>gcA	p.A350A	HMGXB4_ENST00000444518.2_Silent_p.A241A	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	350					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACTTTCTGCCGTGCCAGTGG	0.517																																						dbGAP											0													95.0	97.0	96.0					22																	35661431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1050C>A	22.37:g.35661431C>A			O75672|O75673|Q9UMT5	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A350	ENST00000216106.5	37	c.1050	CCDS33641.1	22																																																																																			HMGXB4	-	NULL	ENSG00000100281		0.517	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	61	0.00	0	C	NM_005487		35661431	35661431	+1	no_errors	ENST00000216106	ensembl	human	known	69_37n	silent	30	11.76	4	SNP	0.000	A
HNRNPL	3191	genome.wustl.edu	37	19	39336615	39336615	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr19:39336615G>T	ENST00000221419.5	-	3	868	c.502C>A	c.(502-504)Cca>Aca	p.P168T	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_Missense_Mutation_p.P35T	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	168	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACAAAAGCTGGGTGACCAGCA	0.517																																						dbGAP											0													121.0	116.0	117.0					19																	39336615		2203	4300	6503	-	-	-	SO:0001583	missense	0			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.502C>A	19.37:g.39336615G>T	ENSP00000221419:p.Pro168Thr		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P168T	ENST00000221419.5	37	c.502	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417000	0.83449	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77422	-0.2594	9	0.54805	T	0.06	.	17.9088	0.88928	0.0:0.0:1.0:0.0	.	168	P14866	HNRPL_HUMAN	T	168;35;35;35;96	.	ENSP00000221419:P168T	P	-	1	0	HNRNPL	44028455	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.711000	0.98735	2.541000	0.85698	0.462000	0.41574	CCA	HNRNPL	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000104824		0.517	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	82	0.00	0	G			39336615	39336615	-1	no_errors	ENST00000221419	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	1.000	T
HEBP1	50865	genome.wustl.edu	37	12	13153397	13153397	+	5'Flank	SNP	G	G	C	rs5021038	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr12:13153397G>C	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		gggcagcagtgcagcagtgca	0.736																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13153397G>C	Exception_encountered		A8K1G2|Q9Y5Z5	RNA	SNP	-	NULL	ENST00000014930.4	37	NULL	CCDS31749.1	12																																																																																			HTR7P1	-	-	ENSG00000183935		0.736	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR7P1	HGNC	protein_coding	OTTHUMT00000401001.1	20	0.00	0	G			13153397	13153397	+1	no_errors	ENST00000535469	ensembl	human	known	69_37n	rna	13	27.78	5	SNP	0.000	C
ITFG3	83986	genome.wustl.edu	37	16	314108	314108	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr16:314108G>A	ENST00000399932.3	+	11	1733	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T	ITFG3_ENST00000450082.2_Missense_Mutation_p.A428T|ITFG3_ENST00000600536.1_Missense_Mutation_p.A428T|ITFG3_ENST00000301679.2_Missense_Mutation_p.A428T|ITFG3_ENST00000301678.3_Missense_Mutation_p.A428T|ITFG3_ENST00000442458.2_Missense_Mutation_p.A428T	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	428						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCTGCCGACCGCAGACCACCG	0.677																																						dbGAP											0													19.0	25.0	23.0					16																	314108		1987	4153	6140	-	-	-	SO:0001583	missense	0			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1282G>A	16.37:g.314108G>A	ENSP00000382814:p.Ala428Thr		D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.A428T	ENST00000399932.3	37	c.1282	CCDS10402.1	16	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074815	0.55646	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082	.	.	.	5.57	4.62	0.57501	.	0.283925	0.39985	N	0.001214	T	0.54334	0.1852	M	0.68593	2.085	0.36757	D	0.883105	D;D	0.57257	0.979;0.973	P;B	0.46510	0.519;0.437	T	0.63857	-0.6542	9	0.40728	T	0.16	-14.2393	11.3469	0.49565	0.0845:0.0:0.9155:0.0	.	428;428	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	T	428	.	ENSP00000301678:A428T	A	+	1	0	ITFG3	254109	0.919000	0.31177	0.862000	0.33874	0.580000	0.36256	2.414000	0.44627	1.352000	0.45808	0.561000	0.74099	GCA	ITFG3	-	NULL	ENSG00000167930		0.677	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	70	0.00	0	G	NM_032039		314108	314108	+1	no_errors	ENST00000301678	ensembl	human	known	69_37n	missense	33	41.07	23	SNP	0.926	A
JRK	8629	genome.wustl.edu	37	8	143740215	143740215	+	RNA	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr8:143740215G>T	ENST00000507178.2	-	0	7595							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				GGGCACTGGTGGGGACAGAGG	0.527																																						dbGAP											0													48.0	41.0	43.0					8																	143740215		692	1591	2283	-	-	-			0			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143740215G>T			O75565	RNA	SNP	-	NULL	ENST00000507178.2	37	NULL		8																																																																																			JRK	-	-	ENSG00000234616		0.527	JRK-003	KNOWN	basic	processed_transcript	JRK	HGNC	processed_transcript	OTTHUMT00000362914.1	43	0.00	0	G	NM_003724		143740215	143740215	-1	no_errors	ENST00000507178	ensembl	human	known	69_37n	rna	21	12.50	3	SNP	0.003	T
KIAA1522	57648	genome.wustl.edu	37	1	33233706	33233706	+	Silent	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:33233706C>A	ENST00000373480.1	+	3	376	c.273C>A	c.(271-273)acC>acA	p.T91T	KIAA1522_ENST00000401073.2_Silent_p.T150T|KIAA1522_ENST00000373481.3_Silent_p.T102T|KIAA1522_ENST00000294521.3_Silent_p.T91T	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	91										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ATGGAGACACCCAGAGTATCC	0.542																																						dbGAP											0													133.0	140.0	137.0					1																	33233706		2042	4186	6228	-	-	-	SO:0001819	synonymous_variant	0			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.273C>A	1.37:g.33233706C>A			B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	NULL	p.T150	ENST00000373480.1	37	c.450	CCDS55588.1	1																																																																																			KIAA1522	-	NULL	ENSG00000162522		0.542	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	48	0.00	0	C			33233706	33233706	+1	no_errors	ENST00000401073	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	1.000	A
MAP10	54627	genome.wustl.edu	37	1	232943640	232943640	+	Silent	SNP	T	T	C			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:232943640T>C	ENST00000418460.1	+	1	2998	c.2871T>C	c.(2869-2871)aaT>aaC	p.N957N		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	815					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TAGATCAAAATAGTATGCACA	0.343																																						dbGAP											0													67.0	69.0	68.0					1																	232943640		1824	4092	5916	-	-	-	SO:0001819	synonymous_variant	0			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2871T>C	1.37:g.232943640T>C			A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	NULL	p.N957	ENST00000418460.1	37	c.2871	CCDS44334.1	1																																																																																			KIAA1383	-	NULL	ENSG00000212916		0.343	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	26	0.00	0	T	NM_019090		232943640	232943640	+1	no_errors	ENST00000418460	ensembl	human	known	69_37n	silent	18	40.00	12	SNP	0.000	C
KIAA1524	57650	genome.wustl.edu	37	3	108298527	108298527	+	Silent	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr3:108298527C>A	ENST00000295746.8	-	6	634	c.558G>T	c.(556-558)gtG>gtT	p.V186V	KIAA1524_ENST00000491772.1_Silent_p.V27V|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	186					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAAAAGATTTCACATTACTCT	0.284																																						dbGAP											0													57.0	57.0	57.0					3																	108298527		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.558G>T	3.37:g.108298527C>A			A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	superfamily_ARM-type_fold	p.V186	ENST00000295746.8	37	c.558	CCDS33812.1	3																																																																																			KIAA1524	-	superfamily_ARM-type_fold	ENSG00000163507		0.284	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	27	0.00	0	C	NM_020890		108298527	108298527	-1	no_errors	ENST00000295746	ensembl	human	known	69_37n	silent	25	45.65	21	SNP	1.000	A
KIAA1731	85459	genome.wustl.edu	37	11	93429528	93429528	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr11:93429528G>T	ENST00000325212.6	+	14	1876	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000531700.1_5'UTR|KIAA1731_ENST00000411936.1_Missense_Mutation_p.D572Y			Q9C0D2	K1731_HUMAN	KIAA1731	572						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCTGATGAAGATAGTCATAG	0.328																																						dbGAP											0													142.0	114.0	123.0					11																	93429528		692	1590	2282	-	-	-	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.1714G>T	11.37:g.93429528G>T	ENSP00000316681:p.Asp572Tyr		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.D572Y	ENST00000325212.6	37	c.1714	CCDS44708.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.050576|3.050576	0.55218|0.55218	.|.	.|.	ENSG00000166004|ENSG00000166004	ENST00000325212;ENST00000411936|ENST00000531877	T;T|.	0.28255|.	1.62;1.62|.	6.08|6.08	5.17|5.17	0.71159|0.71159	.|.	0.540328|.	0.16928|.	N|.	0.193819|.	T|T	0.59238|0.59238	0.2179|0.2179	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70935|.	0.971|.	T|T	0.57142|0.57142	-0.7862|-0.7862	10|5	0.87932|.	D|.	0|.	-7.544|-7.544	11.3105|11.3105	0.49362|0.49362	0.0829:0.0:0.9171:0.0|0.0829:0.0:0.9171:0.0	.|.	572|.	Q9C0D2|.	K1731_HUMAN|.	Y|I	572|132	ENSP00000316681:D572Y;ENSP00000406505:D572Y|.	ENSP00000316681:D572Y|.	D|R	+|+	1|2	0|0	KIAA1731|KIAA1731	93069176|93069176	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.755000|0.755000	0.42902|0.42902	2.777000|2.777000	0.47717|0.47717	1.594000|1.594000	0.50039|0.50039	0.655000|0.655000	0.94253|0.94253	GAT|AGA	KIAA1731	-	NULL	ENSG00000166004		0.328	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	42	0.00	0	G	NM_033395		93429528	93429528	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.985	T
KIAA1804	84451	genome.wustl.edu	37	1	233512266	233512266	+	Silent	SNP	C	C	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:233512266C>T	ENST00000366624.3	+	8	2178	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	MLK4_ENST00000366622.1_Silent_p.D85D	NM_032435.2	NP_115811.2																					TGTTTGTGGACCAGCCAGGTA	0.428																																						dbGAP											0													90.0	92.0	91.0					1																	233512266		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000366624.3:c.1917C>T	1.37:g.233512266C>T				Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.D639	ENST00000366624.3	37	c.1917	CCDS1598.1	1																																																																																			RP5-862P8.2	-	pirsf_MAPKKK9/10/11	ENSG00000143674		0.428	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Clone_based_vega_gene	protein_coding	OTTHUMT00000092495.1	87	0.00	0	C			233512266	233512266	+1	no_errors	ENST00000366624	ensembl	human	known	69_37n	silent	30	40.00	20	SNP	1.000	T
LIMK1	3984	genome.wustl.edu	37	7	73520486	73520486	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr7:73520486G>T	ENST00000336180.2	+	7	845	c.794G>T	c.(793-795)gGg>gTg	p.G265V	LIMK1_ENST00000538333.3_Missense_Mutation_p.G231V|LIMK1_ENST00000418310.1_Missense_Mutation_p.G295V	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	265					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	CTGGGCCACGGGCTGGGGCCT	0.632																																						dbGAP											0													109.0	123.0	118.0					7																	73520486		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.794G>T	7.37:g.73520486G>T	ENSP00000336740:p.Gly265Val		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G265V	ENST00000336180.2	37	c.794	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	G	6.847	0.525592	0.13066	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.74632	-0.84;-0.83;-0.86	4.84	3.93	0.45458	.	0.773368	0.12124	N	0.497413	T	0.75752	0.3892	L	0.50333	1.59	0.31498	N	0.665142	P;B;B	0.52316	0.952;0.061;0.105	P;B;B	0.52267	0.694;0.019;0.045	T	0.71189	-0.4666	10	0.24483	T	0.36	-18.2845	11.9008	0.52682	0.0:0.0:0.8046:0.1954	.	160;231;265	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	V	295;265;265;231	ENSP00000409717:G295V;ENSP00000336740:G265V;ENSP00000444452:G231V	ENSP00000336740:G265V	G	+	2	0	LIMK1	73158422	0.986000	0.35501	0.612000	0.29024	0.168000	0.22595	2.287000	0.43505	0.978000	0.38470	0.555000	0.69702	GGG	LIMK1	-	NULL	ENSG00000106683		0.632	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	54	0.00	0	G	NM_002314		73520486	73520486	+1	no_errors	ENST00000336180	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	0.242	T
LRRC48	83450	genome.wustl.edu	37	17	17907781	17907781	+	Silent	SNP	G	G	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:17907781G>A	ENST00000399187.1	+	10	1322	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	LRRC48_ENST00000584166.1_Silent_p.L368L|LRRC48_ENST00000411504.2_Silent_p.L368L|LRRC48_ENST00000313838.8_Silent_p.L368L|LRRC48_ENST00000399182.1_Silent_p.L368L	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	368						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCATGACGCTGGAGATGCAGC	0.537																																						dbGAP											0													70.0	70.0	70.0					17																	17907781		2149	4270	6419	-	-	-	SO:0001819	synonymous_variant	0			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1104G>A	17.37:g.17907781G>A			A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	NULL	p.L368	ENST00000399187.1	37	c.1104	CCDS45622.1	17																																																																																			LRRC48	-	NULL	ENSG00000171962		0.537	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	82	0.00	0	G	NM_031294		17907781	17907781	+1	no_errors	ENST00000313838	ensembl	human	known	69_37n	silent	32	29.79	14	SNP	0.998	A
KMT2C	58508	genome.wustl.edu	37	7	151879136	151879136	+	Nonsense_Mutation	SNP	G	G	A	rs374061571		TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr7:151879136G>A	ENST00000262189.6	-	36	6027	c.5809C>T	c.(5809-5811)Caa>Taa	p.Q1937*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1937*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1937	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCATTCATTTGAAGGGGCCTA	0.463																																						dbGAP											0													102.0	106.0	105.0					7																	151879136		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5809C>T	7.37:g.151879136G>A	ENSP00000262189:p.Gln1937*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1937*	ENST00000262189.6	37	c.5809	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.941269	0.99620	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.09	5.09	0.68999	.	0.346214	0.20346	N	0.094155	.	.	.	.	.	.	0.43091	D	0.994762	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.5986	0.50988	0.0825:0.0:0.9175:0.0	.	.	.	.	X	1937	.	ENSP00000262189:Q1937X	Q	-	1	0	MLL3	151510069	0.984000	0.35163	0.135000	0.22099	0.491000	0.33493	4.602000	0.61098	2.366000	0.80165	0.563000	0.77884	CAA	MLL3	-	NULL	ENSG00000055609		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	70	0.00	0	G			151879136	151879136	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	26	40.91	18	SNP	0.047	A
NRXN1	9378	genome.wustl.edu	37	2	50201237	50201237	+	Intron	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:50201237G>T	ENST00000406316.2	-	21	5515				NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000404971.1_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGGTGACAGGAGAGCTCCC	0.473																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4039-30308C>A	2.37:g.50201237G>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	smart_Neurexin-like	p.S35	ENST00000406316.2	37	c.105	CCDS54360.1	2																																																																																			NRXN1	-	NULL	ENSG00000179915		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	51	0.00	0	G			50201237	50201237	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000412315	ensembl	human	novel	69_37n	silent	28	12.50	4	SNP	1.000	T
PHF3	23469	genome.wustl.edu	37	6	64404655	64404655	+	Splice_Site	SNP	G	G	C			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr6:64404655G>C	ENST00000262043.3	+	6	3020		c.e6+1		PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCAAAACCAGGTAGTGAGATG	0.284																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													37.0	40.0	39.0					6																	64404655		2183	4293	6476	-	-	-	SO:0001630	splice_region_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2680+1G>C	6.37:g.64404655G>C			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	SNP	-	e5+1	ENST00000262043.3	37	c.2680+1	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976340	0.53720	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000393387	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2582	0.82528	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF3	64462614	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	6.003000	0.70701	2.592000	0.87571	0.549000	0.68633	.	PHF3	-	-	ENSG00000118482		0.284	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	28	0.00	0	G		Intron	64404655	64404655	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	splice_site	28	12.50	4	SNP	1.000	C
PLA2G15	23659	genome.wustl.edu	37	16	68293091	68293091	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr16:68293091G>T	ENST00000219345.5	+	6	853	c.770G>T	c.(769-771)cGg>cTg	p.R257L	RP11-96D1.7_ENST00000563175.1_RNA|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.R57L|PLA2G15_ENST00000413021.2_Missense_Mutation_p.R163L|PLA2G15_ENST00000566188.1_Silent_p.P215P	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	257					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CTGAAGATCCGGGAGCAGCAG	0.582																																						dbGAP											0													35.0	35.0	35.0					16																	68293091		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.770G>T	16.37:g.68293091G>T	ENSP00000219345:p.Arg257Leu		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.R257L	ENST00000219345.5	37	c.770	CCDS10864.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.452851	0.96223	.	.	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.95885	-3.84;-3.84;-3.84	5.3	5.3	0.74995	.	0.048860	0.85682	D	0.000000	D	0.98005	0.9343	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.76071	0.982;0.987;0.927	D	0.97646	1.0151	10	0.41790	T	0.15	0.0112	18.7481	0.91802	0.0:0.0:1.0:0.0	.	57;163;257	B4DPU0;B4DUD1;Q8NCC3	.;.;PAG15_HUMAN	L	163;257;57	ENSP00000394197:R163L;ENSP00000219345:R257L;ENSP00000393610:R57L	ENSP00000219345:R257L	R	+	2	0	PLA2G15	66850592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.595000	0.98260	2.757000	0.94681	0.655000	0.94253	CGG	PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.582	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	70	0.00	0	G	NM_012320		68293091	68293091	+1	no_errors	ENST00000219345	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48812933	48812933	+	Splice_Site	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr8:48812933C>A	ENST00000314191.2	-	28	3420	c.3364G>T	c.(3364-3366)Ggt>Tgt	p.G1122C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.G1122C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1122					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAAAACGTACCTAAGGACTTC	0.433								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													87.0	86.0	87.0					8																	48812933		1976	4164	6140	-	-	-	SO:0001630	splice_region_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3364+1G>T	8.37:g.48812933C>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1122C	ENST00000314191.2	37	c.3364		8	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454292	0.63290	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65916	-0.18;-0.18	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80699	-0.1266	8	.	.	.	.	18.7276	0.91720	0.0:1.0:0.0:0.0	.	1122;1122	E7EUY0;P78527	.;PRKDC_HUMAN	C	1122	ENSP00000313420:G1122C;ENSP00000345182:G1122C	.	G	-	1	0	PRKDC	48975486	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	7.410000	0.80065	2.505000	0.84491	0.591000	0.81541	GGT	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		60	0.00	0	C	NM_001081640	Missense_Mutation	48812933	48812933	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	A
PPP1R16A	84988	genome.wustl.edu	37	8	145722633	145722633	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr8:145722633C>T	ENST00000292539.4	+	2	973	c.56C>T	c.(55-57)aCa>aTa	p.T19I	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.T19I|CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000529009.1_3'UTR|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	19						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGATGAGCACACAGGAGCGG	0.682																																						dbGAP											0													24.0	22.0	23.0					8																	145722633		2190	4291	6481	-	-	-	SO:0001583	missense	0				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.56C>T	8.37:g.145722633C>T	ENSP00000292539:p.Thr19Ile		D3DWM5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T19I	ENST00000292539.4	37	c.56	CCDS6429.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897707	0.91962	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.71934	-0.61;-0.61	4.81	4.81	0.61882	.	0.058467	0.64402	D	0.000002	T	0.75228	0.3821	M	0.81497	2.545	0.51012	D	0.9999	P	0.45396	0.857	P	0.44811	0.461	T	0.77955	-0.2393	10	0.40728	T	0.16	.	15.3805	0.74651	0.0:1.0:0.0:0.0	.	19	Q96I34	PP16A_HUMAN	I	19	ENSP00000292539:T19I;ENSP00000391126:T19I	ENSP00000292539:T19I	T	+	2	0	PPP1R16A	145693441	0.307000	0.24500	0.704000	0.30370	0.896000	0.52359	4.194000	0.58393	2.236000	0.73375	0.462000	0.41574	ACA	PPP1R16A	-	pirsf_Pase-1_reg_su_16AB_euk	ENSG00000160972		0.682	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	HGNC	protein_coding	OTTHUMT00000382459.1	51	0.00	0	C	NM_032902		145722633	145722633	+1	no_errors	ENST00000292539	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	T
PRPSAP1	5635	genome.wustl.edu	37	17	74324845	74324845	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:74324845G>T	ENST00000446526.3	-	7	1179	c.734C>A	c.(733-735)cCg>cAg	p.P245Q	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.P142Q	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	216					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GACCATAGGCGGGGAGTGACG	0.493																																						dbGAP											0													99.0	75.0	83.0					17																	74324845		2203	4300	6503	-	-	-	SO:0001583	missense	0			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.734C>A	17.37:g.74324845G>T	ENSP00000414624:p.Pro245Gln		B2R6M4|Q96H06	Missense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.P245Q	ENST00000446526.3	37	c.734	CCDS11743.2	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041484	0.75732	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.85099	2.735	0.80722	D	1	P;D	0.89917	0.949;1.0	P;D	0.79108	0.829;0.992	D	0.88290	0.2942	10	0.56958	D	0.05	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	216;245	Q14558;Q14558-2	KPRA_HUMAN;.	Q	245;142;142;142	ENSP00000414624:P245Q;ENSP00000314973:P142Q;ENSP00000392838:P142Q;ENSP00000387494:P142Q	ENSP00000314973:P142Q	P	-	2	0	PRPSAP1	71836440	1.000000	0.71417	0.212000	0.23672	0.225000	0.24961	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	CCG	PRPSAP1	-	tigrfam_Rib-P_diPkinase	ENSG00000161542		0.493	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP1	HGNC	protein_coding	OTTHUMT00000342480.2	111	0.00	0	G	NM_002766		74324845	74324845	-1	no_errors	ENST00000446526	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	1.000	T
PVRL4	81607	genome.wustl.edu	37	1	161042511	161042511	+	Silent	SNP	G	G	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:161042511G>A	ENST00000368012.3	-	9	1775	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	ARHGAP30_ENST00000368013.3_5'Flank|PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Silent_p.T200T|ARHGAP30_ENST00000368015.1_5'Flank	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	491					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGGCCCGTAGGGTCCCATTCT	0.597																																					NSCLC(76;1160 1387 14476 16172 29359)	dbGAP											0													151.0	130.0	137.0					1																	161042511		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1473C>T	1.37:g.161042511G>A			B4DQW3|Q96K15	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T491	ENST00000368012.3	37	c.1473	CCDS1216.1	1																																																																																			PVRL4	-	NULL	ENSG00000143217		0.597	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL4	HGNC	protein_coding	OTTHUMT00000077074.1	115	0.00	0	G	NM_030916		161042511	161042511	-1	no_errors	ENST00000368012	ensembl	human	known	69_37n	silent	41	40.00	28	SNP	0.962	A
RBBP6	5930	genome.wustl.edu	37	16	24583718	24583718	+	Missense_Mutation	SNP	G	G	T	rs148143334|rs199567078	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr16:24583718G>T	ENST00000319715.4	+	18	5763	c.5331G>T	c.(5329-5331)gaG>gaT	p.E1777D	RBBP6_ENST00000381039.3_Missense_Mutation_p.E937D|RBBP6_ENST00000348022.2_Missense_Mutation_p.E1743D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1777					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		aagataaagagaaggagaagg	0.308																																						dbGAP											0													25.0	25.0	25.0					16																	24583718		1897	3615	5512	-	-	-	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.5331G>T	16.37:g.24583718G>T	ENSP00000317872:p.Glu1777Asp		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.E1777D	ENST00000319715.4	37	c.5331	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386777	0.11524	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.16196	2.36;2.65;2.62	5.44	-3.08	0.05347	.	0.213231	0.32563	N	0.005936	T	0.06371	0.0164	N	0.08118	0	0.23089	N	0.998313	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.10450	0.005;0.005;0.002	T	0.34403	-0.9830	10	0.21540	T	0.41	-24.9249	8.5913	0.33688	0.3117:0.1452:0.5431:0.0	.	937;1743;1777	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	D	937;1777;1743	ENSP00000370427:E937D;ENSP00000317872:E1777D;ENSP00000316291:E1743D	ENSP00000317872:E1777D	E	+	3	2	RBBP6	24491219	0.009000	0.17119	0.989000	0.46669	0.991000	0.79684	-1.116000	0.03286	-0.493000	0.06678	-0.238000	0.12139	GAG	RBBP6	-	NULL	ENSG00000122257		0.308	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	28	0.00	0	G	NM_006910		24583718	24583718	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	0.883	T
C15orf52	388115	genome.wustl.edu	37	15	40623824	40623824	+	IGR	SNP	A	A	G	rs1129264	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr15:40623824A>G	ENST00000559313.1	-	0	3022				C15orf52_ENST00000397536.2_3'UTR|RNA5SP392_ENST00000516905.1_RNA	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52								poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		gagattaggcacgttcagggt	0.463													G|||	3146	0.628195	0.7269	0.5764	5008	,	,		18737	0.8611		0.333	False		,,,				2504	0.5951					dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981		15.37:g.40623824A>G			B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	RNA	SNP	-	NULL	ENST00000559313.1	37	NULL	CCDS10055.2	15																																																																																			RNA5SP392	-	-	ENSG00000252714		0.463	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNA5SP392	HGNC	protein_coding	OTTHUMT00000319567.2	24	0.00	0	A	NM_207380		40623824	40623824	-1	no_errors	ENST00000516905	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	0.000	G
RNF220	55182	genome.wustl.edu	37	1	44877815	44877815	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:44877815C>T	ENST00000355387.2	+	2	496	c.46C>T	c.(46-48)Ctt>Ttt	p.L16F	RNF220_ENST00000361799.2_Missense_Mutation_p.L16F|RNF220_ENST00000372247.2_Missense_Mutation_p.L16F			Q5VTB9	RN220_HUMAN	ring finger protein 220	16					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCATCCTACCTTCCCAACCC	0.592																																						dbGAP											0													112.0	83.0	93.0					1																	44877815		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.46C>T	1.37:g.44877815C>T	ENSP00000347548:p.Leu16Phe		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.L16F	ENST00000355387.2	37	c.46	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868849	0.51588	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000001	T	0.63438	0.2511	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.65664	-0.6113	9	0.72032	D	0.01	.	13.7598	0.62959	0.0:0.9303:0.0:0.0697	.	16	Q5VTB9	RN220_HUMAN	F	16	.	ENSP00000347548:L16F	L	+	1	0	RNF220	44650402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.782000	0.68973	2.880000	0.98712	0.655000	0.94253	CTT	RNF220	-	NULL	ENSG00000187147		0.592	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	106	0.00	0	C	NM_018150		44877815	44877815	+1	no_errors	ENST00000355387	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	T
RPAP1	26015	genome.wustl.edu	37	15	41828343	41828343	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr15:41828343C>T	ENST00000304330.4	-	4	520	c.404G>A	c.(403-405)cGc>cAc	p.R135H	RPAP1_ENST00000561603.1_Missense_Mutation_p.R135H|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	135						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTCCCGCGAGCGAAGGAACAC	0.512																																						dbGAP											0													124.0	95.0	105.0					15																	41828343		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.404G>A	15.37:g.41828343C>T	ENSP00000306123:p.Arg135His		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.R135H	ENST00000304330.4	37	c.404	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757820	0.69648	.	.	ENSG00000103932	ENST00000304330	T	0.33865	1.39	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	T	0.58194	-0.7679	10	0.87932	D	0	-16.935	17.2701	0.87098	0.0:1.0:0.0:0.0	.	135	Q9BWH6	RPAP1_HUMAN	H	135	ENSP00000306123:R135H	ENSP00000306123:R135H	R	-	2	0	RPAP1	39615635	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	4.230000	0.58632	2.678000	0.91216	0.591000	0.81541	CGC	RPAP1	-	NULL	ENSG00000103932		0.512	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	50	0.00	0	C	NM_015540		41828343	41828343	-1	no_errors	ENST00000304330	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	1.000	T
RPRD2	23248	genome.wustl.edu	37	1	150445838	150445838	+	3'UTR	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:150445838C>A	ENST00000369068.4	+	0	4418				RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2							DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTTTGAACAGTCTAGAGA	0.418																																						dbGAP											0													44.0	40.0	41.0					1																	150445838		1837	4053	5890	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.*28C>A	1.37:g.150445838C>A			A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	RNA	SNP	-	NULL	ENST00000369068.4	37	NULL	CCDS44216.1	1																																																																																			RPRD2	-	-	ENSG00000163125		0.418	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	33	0.00	0	C	NM_015203		150445838	150445838	+1	no_errors	ENST00000492220	ensembl	human	known	69_37n	rna	23	14.81	4	SNP	1.000	A
RPS20	6224	genome.wustl.edu	37	8	56986993	56986993	+	5'UTR	SNP	C	C	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr8:56986993C>T	ENST00000521262.1	-	0	76				RPS20_ENST00000009589.3_5'UTR|RPS20_ENST00000520627.1_5'UTR|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000518875.1_5'UTR|CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000519606.1_5'UTR|RPS20_ENST00000523936.1_5'Flank|RPS20_ENST00000519807.1_5'UTR|RPS20_ENST00000524349.1_5'UTR			P60866	RS20_HUMAN	ribosomal protein S20						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)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CGAGAGCGAACAGCGGTGAGT	0.642																																						dbGAP											0													3.0	3.0	3.0					8																	56986993		1854	3767	5621	-	-	-	SO:0001623	5_prime_UTR_variant	0			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.-178G>A	8.37:g.56986993C>T			B2R4F4|B4DW28|P17075|Q5M8S9	RNA	SNP	-	NULL	ENST00000521262.1	37	NULL		8																																																																																			RPS20	-	-	ENSG00000008988		0.642	RPS20-003	KNOWN	basic|appris_principal	protein_coding	RPS20	HGNC	protein_coding	OTTHUMT00000378166.1	19	0.00	0	C	NM_001023		56986993	56986993	-1	no_errors	ENST00000520490	ensembl	human	known	69_37n	rna	9	30.77	4	SNP	1.000	T
RTKN	6242	genome.wustl.edu	37	2	74659597	74659597	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:74659597C>A	ENST00000233330.6	-	2	475	c.158G>T	c.(157-159)cGg>cTg	p.R53L	RTKN_ENST00000305557.5_Missense_Mutation_p.R90L|RTKN_ENST00000272430.5_Missense_Mutation_p.R103L|RTKN_ENST00000484453.1_5'Flank	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCTCACCGCCGGCTTGTCTT	0.642																																						dbGAP											0													70.0	71.0	71.0					2																	74659597		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.158G>T	2.37:g.74659597C>A	ENSP00000233330:p.Arg53Leu			Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R103L	ENST00000233330.6	37	c.308	CCDS42699.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.272982	0.95429	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.35789	1.3;1.29;1.3	4.72	4.72	0.59763	.	0.059819	0.64402	D	0.000003	T	0.56411	0.1983	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.56025	-0.8047	10	0.46703	T	0.11	.	15.2231	0.73330	0.0:1.0:0.0:0.0	.	103;90	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	L	90;103;53	ENSP00000305298:R90L;ENSP00000272430:R103L;ENSP00000233330:R53L	ENSP00000233330:R53L	R	-	2	0	RTKN	74513105	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.232000	0.51302	2.438000	0.82558	0.561000	0.74099	CGG	RTKN	-	NULL	ENSG00000114993		0.642	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	RTKN	HGNC	protein_coding	OTTHUMT00000328236.3	105	0.00	0	C	NM_001015055		74659597	74659597	-1	no_errors	ENST00000272430	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	A
SDK2	54549	genome.wustl.edu	37	17	71375613	71375613	+	Missense_Mutation	SNP	G	G	T	rs141987716	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:71375613G>T	ENST00000392650.3	-	35	4838	c.4838C>A	c.(4837-4839)cCg>cAg	p.P1613Q	SDK2_ENST00000388726.3_Missense_Mutation_p.P1594Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1613	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GACCTCCTGCGGGGGGCTGGA	0.657																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4838C>A	17.37:g.71375613G>T	ENSP00000376421:p.Pro1613Gln		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1613Q	ENST00000392650.3	37	c.4838	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332744	0.60853	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56103	0.48;0.48;0.48	4.61	4.61	0.57282	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.73598	2.24	0.80722	D	1	D;P;D	0.89917	1.0;0.869;0.998	D;P;D	0.72625	0.978;0.776;0.978	T	0.75786	-0.3195	10	0.54805	T	0.06	.	17.8103	0.88613	0.0:0.0:1.0:0.0	.	1613;1613;1594	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	Q	1237;1613;1594;770;1613	ENSP00000376421:P1613Q;ENSP00000373378:P1594Q;ENSP00000407098:P770Q	ENSP00000324967:P1613Q	P	-	2	0	SDK2	68887208	1.000000	0.71417	0.432000	0.26747	0.124000	0.20399	9.465000	0.97660	2.275000	0.75901	0.561000	0.74099	CCG	SDK2	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	51	0.00	0	G	NM_019064		71375613	71375613	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	22	12.00	3	SNP	1.000	T
SH3RF3	344558	genome.wustl.edu	37	2	110107366	110107366	+	Silent	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:110107366C>A	ENST00000309415.6	+	9	2454	c.2454C>A	c.(2452-2454)ccC>ccA	p.P818P		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	818							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCATCCGCCCCGAGCCCAAGC	0.612																																						dbGAP											0													17.0	17.0	17.0					2																	110107366		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2454C>A	2.37:g.110107366C>A			A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox	p.P818	ENST00000309415.6	37	c.2454		2																																																																																			SH3RF3	-	superfamily_SH3_domain	ENSG00000172985		0.612	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	SH3RF3	HGNC	protein_coding		45	0.00	0	C	NM_001099289		110107366	110107366	+1	no_errors	ENST00000309415	ensembl	human	known	69_37n	silent	27	15.62	5	SNP	0.002	A
SLC22A8	9376	genome.wustl.edu	37	11	62761059	62761059	+	Nonsense_Mutation	SNP	C	C	A	rs149538913		TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr11:62761059C>A	ENST00000336232.2	-	10	1501	c.1366G>T	c.(1366-1368)Gga>Tga	p.G456*	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_Nonsense_Mutation_p.G456*|SLC22A8_ENST00000535878.1_Nonsense_Mutation_p.G333*|SLC22A8_ENST00000545207.1_Nonsense_Mutation_p.G365*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.G456*	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	456					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACCATGCTTCCCACGCGGGTC	0.582																																						dbGAP											0													76.0	75.0	75.0					11																	62761059		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1366G>T	11.37:g.62761059C>A	ENSP00000337335:p.Gly456*		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G456*	ENST00000336232.2	37	c.1366	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.581126	0.97680	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7642	0.88473	0.0:1.0:0.0:0.0	.	.	.	.	X	456;442;365;333;456;456	.	ENSP00000311463:G456X	G	-	1	0	SLC22A8	62517635	0.997000	0.39634	0.982000	0.44146	0.983000	0.72400	6.302000	0.72788	2.793000	0.96121	0.591000	0.81541	GGA	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000149452		0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	61	0.00	0	C	NM_004254		62761059	62761059	-1	no_errors	ENST00000336232	ensembl	human	known	69_37n	nonsense	33	10.81	4	SNP	1.000	A
SLC8A2	6543	genome.wustl.edu	37	19	47960788	47960789	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr19:47960788_47960789insG	ENST00000236877.6	-	3	1133_1134	c.738_739insC	c.(736-741)gccgacfs	p.D247fs	SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.D3fs|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	247					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGCCGCTTGTCGGCCATCCAGG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.739dupC	19.37:g.47960790_47960790dupG	ENSP00000236877:p.Asp247fs		B4DYQ9	Frame_Shift_Ins	INS	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.D246fs	ENST00000236877.6	37	c.739_738	CCDS33065.1	19																																																																																			SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.683	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	37	0.00	0	-			47960788	47960789	-1	no_errors	ENST00000236877	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	1.000:0.926	G
SPRR2G	6706	genome.wustl.edu	37	1	153122539	153122539	+	Silent	SNP	A	A	G			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:153122539A>G	ENST00000368748.4	-	2	86	c.48T>C	c.(46-48)ccT>ccC	p.P16P		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	16					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGGCACACAGGAGGTGGCT	0.572																																						dbGAP											0													119.0	96.0	104.0					1																	153122539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.48T>C	1.37:g.153122539A>G				Silent	SNP	NULL	p.P16	ENST00000368748.4	37	c.48	CCDS30868.1	1																																																																																			SPRR2G	-	NULL	ENSG00000159516		0.572	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2G	HGNC	protein_coding	OTTHUMT00000040057.1	164	0.00	0	A			153122539	153122539	-1	no_errors	ENST00000368748	ensembl	human	known	69_37n	silent	99	23.26	30	SNP	0.345	G
STOX1	219736	genome.wustl.edu	37	10	70644056	70644056	+	Silent	SNP	G	G	T			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr10:70644056G>T	ENST00000298596.6	+	3	587	c.504G>T	c.(502-504)ctG>ctT	p.L168L	STOX1_ENST00000421961.2_Silent_p.L58L|STOX1_ENST00000399165.4_Silent_p.L168L|STOX1_ENST00000399169.4_Silent_p.L168L|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	168						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ATACCACTCTGGGAACGCTGA	0.338																																						dbGAP											0													93.0	85.0	88.0					10																	70644056		1868	4121	5989	-	-	-	SO:0001819	synonymous_variant	0			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.504G>T	10.37:g.70644056G>T			A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	pfam_Storkhead-box_winged-helix	p.L168	ENST00000298596.6	37	c.504	CCDS41535.1	10																																																																																			STOX1	-	pfam_Storkhead-box_winged-helix	ENSG00000165730		0.338	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	HGNC	protein_coding	OTTHUMT00000276849.3	44	0.00	0	G	NM_152709		70644056	70644056	+1	no_errors	ENST00000298596	ensembl	human	known	69_37n	silent	15	16.67	3	SNP	1.000	T
SUN2	25777	genome.wustl.edu	37	22	39137043	39137043	+	Missense_Mutation	SNP	G	G	T	rs143685496		TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr22:39137043G>T	ENST00000405510.1	-	12	1517	c.1159C>A	c.(1159-1161)Cgc>Agc	p.R387S	SUN2_ENST00000405018.1_Missense_Mutation_p.R408S|RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R376S|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.R387S|SUN2_ENST00000216064.4_Missense_Mutation_p.R387S|RP3-508I15.22_ENST00000607991.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	387					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGCTGGATGCGAGCCTCGGAC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		18903	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													45.0	42.0	43.0					22																	39137043		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1159C>A	22.37:g.39137043G>T	ENSP00000385740:p.Arg387Ser		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.R387S	ENST00000405510.1	37	c.1159	CCDS13978.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.08	2.428468	0.43122	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.04	4.04	0.47022	.	1.128480	0.06721	N	0.774850	T	0.26666	0.0652	N	0.24115	0.695	0.24609	N	0.993735	P;P;P;B;B	0.39131	0.661;0.661;0.661;0.171;0.434	B;B;B;B;B	0.37508	0.252;0.252;0.252;0.061;0.17	T	0.28202	-1.0051	10	0.44086	T	0.13	-2.0656	15.2333	0.73407	0.0:0.0:1.0:0.0	.	376;422;387;408;387	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	S	387;387;408;387;376	ENSP00000385740:R387S;ENSP00000216064:R387S;ENSP00000385616:R408S;ENSP00000383992:R387S;ENSP00000395601:R376S	ENSP00000216064:R387S	R	-	1	0	SUN2	37466989	0.511000	0.26179	0.581000	0.28614	0.647000	0.38526	3.918000	0.56432	2.539000	0.85634	0.655000	0.94253	CGC	SUN2	-	NULL	ENSG00000100242		0.562	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	74	0.00	0	G	XM_039332		39137043	39137043	-1	no_errors	ENST00000216064	ensembl	human	known	69_37n	missense	27	10.00	3	SNP	0.510	T
SYNJ1	8867	genome.wustl.edu	37	21	34018835	34018835	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr21:34018835C>A	ENST00000322229.7	-	23	3114	c.3115G>T	c.(3115-3117)Ggt>Tgt	p.G1039C	SYNJ1_ENST00000382491.3_Missense_Mutation_p.G1034C|SYNJ1_ENST00000357345.3_Missense_Mutation_p.G1039C|SYNJ1_ENST00000382499.2_Missense_Mutation_p.G1078C|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G1078C			O43426	SYNJ1_HUMAN	synaptojanin 1	1039	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGGAAGTACCAAGGCCGGAA	0.522																																						dbGAP											0													145.0	137.0	139.0					21																	34018835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3115G>T	21.37:g.34018835C>A	ENSP00000322234:p.Gly1039Cys		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.G1078C	ENST00000322229.7	37	c.3232	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434368	0.83776	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93859	-2.43;-3.3;-3.29;-2.48;-2.49	5.42	5.42	0.78866	.	0.209202	0.49916	D	0.000123	D	0.94447	0.8213	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.994;0.991;0.999;0.991	D;P;P;D;P	0.65987	0.936;0.65;0.81;0.94;0.81	D	0.94278	0.7517	10	0.45353	T	0.12	.	19.2253	0.93816	0.0:1.0:0.0:0.0	.	1034;1078;1039;1039;1039	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	C	1034;1039;1078;1078;1039	ENSP00000371931:G1034C;ENSP00000349903:G1039C;ENSP00000371939:G1078C;ENSP00000409667:G1078C;ENSP00000322234:G1039C	ENSP00000322234:G1039C	G	-	1	0	SYNJ1	32940706	0.998000	0.40836	0.809000	0.32408	0.987000	0.75469	3.948000	0.56660	2.529000	0.85273	0.655000	0.94253	GGT	SYNJ1	-	NULL	ENSG00000159082		0.522	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		55	0.00	0	C			34018835	34018835	-1	no_errors	ENST00000433931	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	0.998	A
TFPI2	7980	genome.wustl.edu	37	7	93519971	93519972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr7:93519971_93519972insG	ENST00000222543.5	-	1	331_332	c.19_20insC	c.(19-21)ctgfs	p.L7fs	GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Frame_Shift_Ins_p.L7fs	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	7					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CGACAGCCCCAGGGGGCGAGCG	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.20dupC	7.37:g.93519976_93519976dupG	ENSP00000222543:p.Leu7fs		Q66ME8|Q8NAK6|Q9UC86	Frame_Shift_Ins	INS	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.L7fs	ENST00000222543.5	37	c.20_19	CCDS5632.1	7																																																																																			TFPI2	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000105825		0.683	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	9	0.00	0	-	NM_006528		93519971	93519972	-1	no_errors	ENST00000222543	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.001:0.000	G
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	64	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.864	T
TXNRD2	10587	genome.wustl.edu	37	22	19886581	19886581	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr22:19886581C>A	ENST00000400521.1	-	9	679	c.673G>T	c.(673-675)Ggg>Tgg	p.G225W	TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Missense_Mutation_p.G224W|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G195W|TXNRD2_ENST00000542719.1_Missense_Mutation_p.G195W|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G224W|TXNRD2_ENST00000334363.9_Missense_Mutation_p.G225W	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	225					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CAGCTGGCCCCGACCACCAAC	0.597																																						dbGAP											0													49.0	57.0	55.0					22																	19886581		1988	4161	6149	-	-	-	SO:0001583	missense	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.673G>T	22.37:g.19886581C>A	ENSP00000383365:p.Gly225Trp		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.G224W	ENST00000400521.1	37	c.670	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597093	0.87055	.	.	ENSG00000184470	ENST00000400518;ENST00000400521;ENST00000400525;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363	D;D;D;D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.43;-5.43;-5.43;-5.43	4.62	4.62	0.57501	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	30.937300	0.00166	N	0.000000	D	0.99764	0.9904	H	0.99011	4.4	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.361;1.0	D;D;B;D	0.97110	0.999;1.0;0.096;0.999	D	0.96353	0.9260	10	0.87932	D	0	-0.6321	18.3438	0.90314	0.0:1.0:0.0:0.0	.	225;225;193;224	Q9NNW7;E7EWK1;Q6M1B7;D3YTF9	TRXR2_HUMAN;.;.;.	W	195;225;202;224;224;195;225	ENSP00000383362:G195W;ENSP00000383365:G225W;ENSP00000383369:G202W;ENSP00000383363:G224W;ENSP00000439314:G224W;ENSP00000439570:G195W;ENSP00000334451:G225W	ENSP00000334451:G225W	G	-	1	0	TXNRD2	18266581	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	7.037000	0.76531	2.522000	0.85027	0.655000	0.94253	GGG	TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000184470		0.597	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	54	0.00	0	C	NM_006440		19886581	19886581	-1	no_errors	ENST00000535882	ensembl	human	known	69_37n	missense	23	11.54	3	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	216390733	216390733	+	Silent	SNP	G	G	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr1:216390733G>A	ENST00000307340.3	-	15	3539	c.3153C>T	c.(3151-3153)agC>agT	p.S1051S	USH2A_ENST00000366942.3_Silent_p.S1051S|USH2A_ENST00000366943.2_Silent_p.S1051S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1051	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTTACTTTTGCTGCAACCCA	0.443										HNSCC(13;0.011)																												dbGAP											0													101.0	84.0	89.0					1																	216390733		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3153C>T	1.37:g.216390733G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1051	ENST00000307340.3	37	c.3153	CCDS31025.1	1																																																																																			USH2A	-	pfscan_EGF_laminin	ENSG00000042781		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	53	0.00	0	G	NM_007123		216390733	216390733	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	31	13.89	5	SNP	1.000	A
USP25	29761	genome.wustl.edu	37	21	17250132	17250132	+	Silent	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr21:17250132C>A	ENST00000285679.6	+	23	3186	c.2817C>A	c.(2815-2817)gcC>gcA	p.A939A	USP25_ENST00000285681.2_Silent_p.A971A|USP25_ENST00000400183.2_Silent_p.A1009A|USP25_ENST00000351097.5_Silent_p.A334A	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	939					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATGAGCAAGCCGCAGAACTCT	0.328																																						dbGAP											0													69.0	70.0	70.0					21																	17250132		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2817C>A	21.37:g.17250132C>A			C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.A1009	ENST00000285679.6	37	c.3027	CCDS33515.1	21																																																																																			USP25	-	NULL	ENSG00000155313		0.328	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	38	0.00	0	C			17250132	17250132	+1	no_errors	ENST00000400183	ensembl	human	known	69_37n	silent	34	10.53	4	SNP	0.774	A
USP34	9736	genome.wustl.edu	37	2	61484057	61484057	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:61484057T>C	ENST00000398571.2	-	47	6153	c.6077A>G	c.(6076-6078)gAa>gGa	p.E2026G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2026	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATAAAACTCTTCAGCAGTTTG	0.264																																						dbGAP											0													37.0	34.0	35.0					2																	61484057		1813	4073	5886	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6077A>G	2.37:g.61484057T>C	ENSP00000381577:p.Glu2026Gly		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E2026G	ENST00000398571.2	37	c.6077	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617395	0.87359	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.09350	2.99;2.99	5.63	5.63	0.86233	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	H	0.97516	4.02	0.58432	D	0.999999	P	0.52316	0.952	D	0.68765	0.96	T	0.67643	-0.5618	10	0.87932	D	0	.	16.1251	0.81386	0.0:0.0:0.0:1.0	.	2026	Q70CQ2	UBP34_HUMAN	G	1874;1874;2026;304	ENSP00000381577:E2026G;ENSP00000410559:E304G	ENSP00000263989:E1874G	E	-	2	0	USP34	61337561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.978000	0.88095	2.261000	0.74972	0.528000	0.53228	GAA	USP34	-	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	ENSG00000115464		0.264	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	32	0.00	0	T			61484057	61484057	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82815219	82815219	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr5:82815219C>A	ENST00000265077.3	+	7	1659	c.1094C>A	c.(1093-1095)cCc>cAc	p.P365H	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P365H|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P317H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	365	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACTGCATCACCCAGTTTATCC	0.383																																						dbGAP											0													127.0	128.0	128.0					5																	82815219		2202	4300	6502	-	-	-	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1094C>A	5.37:g.82815219C>A	ENSP00000265077:p.Pro365His		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.P365H	ENST00000265077.3	37	c.1094	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657036	0.29425	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85861	-1.94;-2.02;-2.04	5.88	4.06	0.47325	.	0.310402	0.28252	N	0.016040	T	0.81312	0.4796	L	0.55481	1.735	0.35229	D	0.776726	B;B	0.29716	0.255;0.012	B;B	0.25405	0.06;0.02	T	0.82874	-0.0241	10	0.87932	D	0	.	12.7338	0.57212	0.3219:0.6781:0.0:0.0	.	365;365	P13611-3;P13611	.;CSPG2_HUMAN	H	365;365;317	ENSP00000265077:P365H;ENSP00000342768:P365H;ENSP00000425959:P317H	ENSP00000265077:P365H	P	+	2	0	VCAN	82850975	0.974000	0.33945	0.775000	0.31657	0.865000	0.49528	0.903000	0.28475	0.761000	0.33130	-0.274000	0.10170	CCC	VCAN	-	NULL	ENSG00000038427		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	51	0.00	0	C	NM_004385		82815219	82815219	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.967	A
VPS51	738	genome.wustl.edu	37	11	64876339	64876339	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr11:64876339C>A	ENST00000279281.3	+	5	1488	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	TM7SF2_ENST00000279263.7_5'Flank|VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	466					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGCAGTGCACCTTTTCACCGC	0.592																																						dbGAP											0													42.0	44.0	43.0					11																	64876339		2038	4035	6073	-	-	-	SO:0001583	missense	0			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1396C>A	11.37:g.64876339C>A	ENSP00000279281:p.Leu466Ile		Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	p.L466I	ENST00000279281.3	37	c.1396	CCDS8093.1	11	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464264	0.26335	.	.	ENSG00000149823	ENST00000279281	.	.	.	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.35288	1.05	0.80722	D	1	B	0.20780	0.048	B	0.17433	0.018	T	0.43475	-0.9389	8	.	.	.	-12.3762	14.3455	0.66658	0.0:1.0:0.0:0.0	.	466	Q9UID3	FFR_HUMAN	I	466	.	.	L	+	1	0	C11orf2	64632915	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.448000	0.80631	2.232000	0.73038	0.549000	0.68633	CTT	VPS51	-	NULL	ENSG00000149823		0.592	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	HGNC	protein_coding	OTTHUMT00000385217.1	69	0.00	0	C	NM_013265		64876339	64876339	+1	no_errors	ENST00000279281	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	A
ZAK	51776	genome.wustl.edu	37	2	174086217	174086219	+	Intron	DEL	GAC	GAC	-	rs371148135	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	GAC	GAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr2:174086217_174086219delGAC	ENST00000375213.3	+	11	1065				MLTK_ENST00000338983.3_In_Frame_Del_p.D443del|MLTK_ENST00000409176.2_Intron|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_In_Frame_Del_p.D443del|MLTK_ENST00000431503.2_In_Frame_Del_p.D342del	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN							activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										tgatgatgatgacggtgaggagg	0.379																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0																														ENST00000375213.3:c.987+4239GAC>-	2.37:g.174086217_174086219delGAC			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	In_Frame_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D443in_frame_del	ENST00000375213.3	37	c.1327_1329	CCDS42777.1	2																																																																																			AC013461.1	-	NULL	ENSG00000091436		0.379	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Clone_based_vega_gene	protein_coding	OTTHUMT00000255401.1	52	0.00	0	GAC			174086217	174086219	+1	no_errors	ENST00000338983	ensembl	human	known	69_37n	in_frame_del	13	13.33	2	DEL	1.000:0.982:0.676	-
ZNF608	57507	genome.wustl.edu	37	5	123972613	123972614	+	3'UTR	INS	-	-	A	rs70991633	byFrequency	TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr5:123972613_123972614insA	ENST00000306315.5	-	0	5953_5954				ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_3'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608								metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGCCattatttaaaaaaaaaaa	0.248													|||unknown(HR)	2155	0.430312	0.267	0.5375	5008	,	,		16774	0.5982		0.3569	False		,,,				2504	0.4775					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.*980->T	5.37:g.123972624_123972624dupA			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	RNA	INS	-	NULL	ENST00000306315.5	37	NULL	CCDS34219.1	5																																																																																			ZNF608	-	-	ENSG00000168916		0.248	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	9	0.00	0	-	XM_114432		123972613	123972614	-1	no_errors	ENST00000513985	ensembl	human	known	69_37n	rna	13	43.48	10	INS	0.291:0.200	A
ZNF814	730051	genome.wustl.edu	37	19	58384274	58384274	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A7-A3RF-01A-11D-A228-09	TCGA-A7-A3RF-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	8de39bb8-b65a-4494-9201-441fe4f91057	3f6d602b-9a9f-4ed7-9155-14868319e688	g.chr19:58384274delA	ENST00000435989.2	-	3	2718	c.2484delT	c.(2482-2484)tatfs	p.Y828fs	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	828					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCACATTTATAAGGCTTTT	0.408																																						dbGAP											0													128.0	118.0	121.0					19																	58384274		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2484delT	19.37:g.58384274delA	ENSP00000410545:p.Tyr828fs		A6NF35	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y828fs	ENST00000435989.2	37	c.2484	CCDS46212.1	19																																																																																			ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.408	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	134	0.00	0	A	XM_001725708		58384274	58384274	-1	no_errors	ENST00000435989	ensembl	human	known	69_37n	frame_shift_del	62	40.57	43	DEL	0.364	-
