#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_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_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_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
UBE4A	9354	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	118239407	118239407	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr11:118239407C>T	ENST00000431736.2	+	3	255	c.183C>T	c.(181-183)ttC>ttT	p.F61F	UBE4A_ENST00000252108.3_Silent_p.F61F					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGATGAATTCGATTACTCTG	0.433																																																0													220.0	216.0	218.0					11																	118239407		2200	4296	6496	SO:0001819	synonymous_variant	9354			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.183C>T	11.37:g.118239407C>T				Silent	SNP	ENST00000431736.2	37	CCDS8396.1																																																																																				0.433	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		84	171	84	171
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	124335566	124335566	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:124335566C>T	ENST00000409039.3	+	34	5905	c.5880C>T	c.(5878-5880)ccC>ccT	p.P1960P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1960	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGATCGTGCCCGACCTGCAGC	0.632																																																0													42.0	45.0	44.0					12																	124335566		2129	4262	6391	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5880C>T	12.37:g.124335566C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				0.632	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			17	49	17	49
TBC1D4	9882	hgsc.bcm.edu;broad.mit.edu	37	13	76055900	76055900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr13:76055900C>T	ENST00000377636.3	-	1	350	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E2K|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E2K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	2					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGGGCGGCTCCATAACTCTC	0.731																																																0													6.0	8.0	7.0					13																	76055900		1735	3881	5616	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.4G>A	13.37:g.76055900C>T	ENSP00000366863:p.Glu2Lys		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150065	0.78001	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03553	3.92;3.91;3.89	3.87	3.87	0.44632	.	0.000000	0.37095	N	0.002243	T	0.03915	0.0110	L	0.43152	1.355	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.11329	0.004;0.006;0.003	T	0.32561	-0.9902	10	0.87932	D	0	-13.4576	5.794	0.18377	0.0:0.816:0.0:0.184	.	2;2;2	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	K	2	ENSP00000366863:E2K;ENSP00000395986:E2K;ENSP00000366852:E2K	ENSP00000366852:E2K	E	-	1	0	TBC1D4	74953901	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.750000	0.47500	2.133000	0.65898	0.462000	0.41574	GAG		0.731	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		5	6	5	6
OR3A2	4995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	3181606	3181606	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3181606G>A	ENST00000408891.2	-	1	662	c.624C>T	c.(622-624)ctC>ctT	p.L208L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	208					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CCACAGCAAAGAGCAGCAGCT	0.537																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)											0													92.0	85.0	87.0					17																	3181606		2203	4300	6503	SO:0001819	synonymous_variant	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.624C>T	17.37:g.3181606G>A			Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	CCDS42233.1																																																																																				0.537	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			38	66	38	66
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	21	57	21
WRAP53	55135	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7592042	7592042	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7592042T>C	ENST00000316024.5	+	1	2424	c.76T>C	c.(76-78)Tct>Cct	p.S26P	WRAP53_ENST00000534050.1_Missense_Mutation_p.S26P|WRAP53_ENST00000396463.2_Missense_Mutation_p.S26P|TP53_ENST00000455263.2_5'Flank|TP53_ENST00000269305.4_5'Flank|WRAP53_ENST00000457584.2_Missense_Mutation_p.S26P|TP53_ENST00000420246.2_5'Flank|TP53_ENST00000445888.2_5'Flank|WRAP53_ENST00000431639.2_Missense_Mutation_p.S26P|RP11-199F11.2_ENST00000571370.1_RNA			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	26	Pro-rich.				positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AGCCCATCCTTCTCCCCACGC	0.587																																																0													65.0	72.0	70.0					17																	7592042		2203	4300	6503	SO:0001583	missense	55135			AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.76T>C	17.37:g.7592042T>C	ENSP00000324203:p.Ser26Pro		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP	ENST00000316024.5	37	CCDS11119.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083807	0.36758	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.59224	0.36;0.36;0.36;0.36;0.28	4.8	2.61	0.31194	.	0.173592	0.28161	N	0.016364	T	0.41003	0.1140	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.34601	-0.9822	10	0.66056	D	0.02	-4.8901	5.9792	0.19397	0.0:0.2046:0.0:0.7954	.	26;26	E9PMG4;Q9BUR4	.;WAP53_HUMAN	P	26	ENSP00000397219:S26P;ENSP00000324203:S26P;ENSP00000411061:S26P;ENSP00000379727:S26P;ENSP00000434999:S26P	ENSP00000324203:S26P	S	+	1	0	WRAP53	7532767	0.003000	0.15002	0.143000	0.22291	0.010000	0.07245	1.048000	0.30379	0.365000	0.24400	0.460000	0.39030	TCT		0.587	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		20	59	20	59
SUMO2	6613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	73177151	73177151	+	Splice_Site	SNP	C	C	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:73177151C>G	ENST00000578238.1	-	2	314		c.e2+1		SUMO2_ENST00000314523.7_Splice_Site|SUMO2_ENST00000420826.2_Splice_Site					small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					GAATTCCTCACCTGTCGTTCA	0.363																																																0													93.0	100.0	98.0					17																	73177151		2203	4300	6503	SO:0001630	splice_region_variant	6613				CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"""SMT3 (suppressor of mif two 3, yeast) homolog 2"", ""SMT3 suppressor of mif two 3 homolog 2 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"""	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000578238.1:c.24+1G>C	17.37:g.73177151C>G				Splice_Site	SNP	ENST00000578238.1	37		.	.	.	.	.	.	.	.	.	.	C	23.6	4.433504	0.83776	.	.	ENSG00000188612	ENST00000420826;ENST00000314523	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5043	0.95108	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUMO2	70688746	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.432000	0.80349	2.607000	0.88179	0.561000	0.74099	.		0.363	SUMO2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000446616.1	NM_006937	Intron	18	47	18	47
C19orf26	255057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	1231248	1231248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:1231248G>A	ENST00000382477.2	-	9	1340	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	C19orf26_ENST00000215376.6_Missense_Mutation_p.R330W|C19orf26_ENST00000590083.1_Missense_Mutation_p.R336W			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	356						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCTGCCGCTGGAAGTGG	0.667										HNSCC(14;0.022)																																						0													36.0	39.0	38.0					19																	1231248		2193	4285	6478	SO:0001583	missense	0			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1066C>T	19.37:g.1231248G>A	ENSP00000371917:p.Arg356Trp		O43385	Missense_Mutation	SNP	ENST00000382477.2	37		.	.	.	.	.	.	.	.	.	.	.	21.9	4.217739	0.79352	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	T;T	0.20738	2.05;2.05	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000003	T	0.42810	0.1219	M	0.66939	2.045	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.35301	-0.9794	10	0.87932	D	0	.	11.8302	0.52290	0.0:0.0:0.8241:0.1759	.	330	Q8N350-2	.	W	356;330	ENSP00000371917:R356W;ENSP00000215376:R330W	ENSP00000215376:R330W	R	-	1	2	C19orf26	1182248	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.065000	0.30592	2.318000	0.78349	0.543000	0.68304	CGG		0.667	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		34	63	34	63
NWD1	284434	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	16860740	16860740	+	Silent	SNP	C	C	T	rs372894087		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:16860740C>T	ENST00000552788.1	+	4	1287	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	NWD1_ENST00000523826.1_Silent_p.F223F|NWD1_ENST00000339803.6_Silent_p.F294F|NWD1_ENST00000379808.3_Silent_p.F429F|NWD1_ENST00000524140.2_Silent_p.F429F|NWD1_ENST00000549814.1_Silent_p.F429F			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	429	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGAAACTTCGAGTCTCTCG	0.617																																																0										0,4402		0,0,2201	78.0	74.0	76.0		1287	-9.5	0.4	19		76	1,8597		0,1,4298	no	coding-synonymous	NWD1	NM_001007525.3		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		429/1433	16860740	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	284434			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1287C>T	19.37:g.16860740C>T			C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																					0.617	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		16	138	16	138
PVR	5817	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	45153147	45153147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:45153147G>A	ENST00000425690.3	+	3	793	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PVR_ENST00000344956.4_Missense_Mutation_p.R165H|PVR_ENST00000406449.4_Missense_Mutation_p.R165H|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.R165H	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	165	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCATGGCCCGCTGCGTCTCC	0.612																																																0													80.0	86.0	84.0					19																	45153147		2203	4300	6503	SO:0001583	missense	5817			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.494G>A	19.37:g.45153147G>A	ENSP00000402060:p.Arg165His		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698932	0.68501	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.54	-2.81	0.05805	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.215710	0.05936	N	0.636080	D	0.86514	0.5951	M	0.85099	2.735	0.29477	N	0.856625	D;D;D;D	0.89917	1.0;1.0;0.968;0.974	D;D;P;P	0.73380	0.974;0.98;0.614;0.823	T	0.77161	-0.2689	10	0.44086	T	0.13	.	7.5874	0.28002	0.0:0.1387:0.2912:0.57	.	165;165;165;165	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	H	165	ENSP00000340870:R165H;ENSP00000402060:R165H;ENSP00000383907:R165H;ENSP00000385344:R165H	ENSP00000340870:R165H	R	+	2	0	PVR	49844987	0.000000	0.05858	0.209000	0.23619	0.070000	0.16714	-0.472000	0.06623	0.073000	0.16731	0.491000	0.48974	CGC		0.612	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		23	144	23	144
ZC3H4	23211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	47575123	47575123	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:47575123G>A	ENST00000253048.5	-	13	2095	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	686	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCGGGATAGGGGGCATCATTC	0.622																																																0													44.0	49.0	47.0					19																	47575123		1954	4145	6099	SO:0001819	synonymous_variant	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2058C>T	19.37:g.47575123G>A			Q9Y420	Silent	SNP	ENST00000253048.5	37	CCDS42582.1																																																																																				0.622	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			15	32	15	32
LILRA1	11024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	55106273	55106273	+	Missense_Mutation	SNP	C	C	T	rs555171577	byFrequency	TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:55106273C>T	ENST00000251372.3	+	4	396	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.R72W	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	72	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGGATTACACGGATCCCACA	0.562													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20167	0.0		0.0	False		,,,				2504	0.001															0													155.0	145.0	148.0					19																	55106273		2203	4300	6503	SO:0001583	missense	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.214C>T	19.37:g.55106273C>T	ENSP00000251372:p.Arg72Trp		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	5.710	0.315441	0.10789	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00801	5.68;5.68	1.62	-1.26	0.09376	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01124	0.0037	L	0.51853	1.615	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.11329	0.006;0.006	T	0.41305	-0.9516	9	0.45353	T	0.12	.	5.7767	0.18283	0.5171:0.4829:0.0:0.0	.	72;72	O75019-2;O75019	.;LIRA1_HUMAN	W	72	ENSP00000251372:R72W;ENSP00000413715:R72W	ENSP00000251372:R72W	R	+	1	2	LILRA1	59798085	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.715000	0.00385	-0.222000	0.09958	0.205000	0.17691	CGG		0.562	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		51	90	51	90
CLCNKB	1188	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	16378309	16378309	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:16378309C>T	ENST00000375679.4	+	14	1513	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	CLCNKB_ENST00000375667.3_Silent_p.L299L	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	468					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTATGCTCTGGCAGGTGA	0.622																																																0													59.0	59.0	59.0					1																	16378309		2203	4300	6503	SO:0001819	synonymous_variant	1188			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1402C>T	1.37:g.16378309C>T			B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		30	54	30	54
SLC24A3	57419	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	19677486	19677486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:19677486G>A	ENST00000328041.6	+	14	1734	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R	RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	513					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGTCATCATGGGGATCACCTT	0.592																																																0													125.0	100.0	108.0					20																	19677486		2203	4300	6503	SO:0001583	missense	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1537G>A	20.37:g.19677486G>A	ENSP00000333519:p.Gly513Arg		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146402	0.94603	.	.	ENSG00000185052	ENST00000328041	T	0.73575	-0.76	5.7	5.7	0.88788	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.91646	0.7360	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94146	0.7401	9	.	.	.	.	18.6103	0.91283	0.0:0.0:1.0:0.0	.	513	Q9HC58	NCKX3_HUMAN	R	513	ENSP00000333519:G513R	.	G	+	1	0	SLC24A3	19625486	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.837000	0.99465	2.695000	0.91970	0.561000	0.74099	GGG		0.592	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		15	35	15	35
KRTAP19-2	337969	hgsc.bcm.edu;broad.mit.edu	37	21	31859568	31859568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:31859568C>T	ENST00000334055.3	-	1	187	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	34						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CAGCCATCTCCACAGCCTCTG	0.512																																																0													135.0	131.0	132.0					21																	31859568		2203	4300	6503	SO:0001583	missense	337969			AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.100G>A	21.37:g.31859568C>T	ENSP00000335660:p.Gly34Arg			Missense_Mutation	SNP	ENST00000334055.3	37	CCDS13595.1	.	.	.	.	.	.	.	.	.	.	-	6.869	0.529725	0.13127	.	.	ENSG00000186965	ENST00000334055	T	0.33865	1.39	4.21	1.27	0.21489	.	0.000000	0.45606	D	0.000351	T	0.20333	0.0489	.	.	.	0.09310	N	1	P	0.41978	0.767	B	0.33568	0.166	T	0.17684	-1.0361	9	0.87932	D	0	.	4.275	0.10804	0.1771:0.622:0.0:0.2008	.	34	Q3LHN2	KR192_HUMAN	R	34	ENSP00000335660:G34R	ENSP00000335660:G34R	G	-	1	0	KRTAP19-2	30781439	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.537000	0.06128	0.151000	0.19162	0.591000	0.81541	GGA		0.512	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128224.3			8	156	8	156
KCNJ15	3772	hgsc.bcm.edu;broad.mit.edu	37	21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:39671533C>T	ENST00000328656.4	+	4	653	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_ENST00000398934.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398930.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.A117V	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	117					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CTCACTGGGGCGTTTCTCTTT	0.493																																																0													97.0	99.0	98.0					21																	39671533		2203	4300	6503	SO:0001583	missense	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.350C>T	21.37:g.39671533C>T	ENSP00000331698:p.Ala117Val		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969301	0.74246	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	5.64	5.64	0.86602	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99368	1.0919	9	.	.	.	.	19.6932	0.96010	0.0:1.0:0.0:0.0	.	117	Q99712	IRK15_HUMAN	V	117	ENSP00000331698:A117V;ENSP00000381902:A117V;ENSP00000381911:A117V;ENSP00000381905:A117V;ENSP00000414487:A117V;ENSP00000381904:A117V;ENSP00000381907:A117V;ENSP00000381901:A117V;ENSP00000400849:A117V	.	A	+	2	0	KCNJ15	38593403	1.000000	0.71417	0.861000	0.33841	0.290000	0.27261	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GCG		0.493	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		10	113	10	113
RASL10A	10633	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	29709887	29709887	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:29709887G>A	ENST00000216101.6	-	2	818	c.309C>T	c.(307-309)taC>taT	p.Y103Y	AC002059.10_ENST00000608014.1_RNA|RASL10A_ENST00000608559.1_5'UTR|RASL10A_ENST00000401450.3_Silent_p.Y103Y	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	103	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						GGGCCTTCACGTAGTCGAAAC	0.652																																																0													63.0	60.0	61.0					22																	29709887		2203	4300	6503	SO:0001819	synonymous_variant	10633			Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.309C>T	22.37:g.29709887G>A			Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	CCDS13854.1																																																																																				0.652	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			5	39	5	39
EIF3L	51386	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	38270462	38270462	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:38270462C>T	ENST00000412331.2	+	9	1419	c.837C>T	c.(835-837)cgC>cgT	p.R279R	EIF3L_ENST00000406934.1_Silent_p.R181R|EIF3L_ENST00000381683.6_Silent_p.R231R	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTTCTCCGCCTGCACTCCC	0.552																																																0													142.0	112.0	122.0					22																	38270462		2203	4300	6503	SO:0001819	synonymous_variant	51386			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.837C>T	22.37:g.38270462C>T				Silent	SNP	ENST00000412331.2	37	CCDS13960.1																																																																																				0.552	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		34	38	34	38
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	196765182	196765182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:196765182A>G	ENST00000312428.6	-	28	4472	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1458	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCATGGCATAGTCAGGTACC	0.418																																																0													157.0	152.0	154.0					2																	196765182		1948	4164	6112	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4372T>C	2.37:g.196765182A>G	ENSP00000311273:p.Tyr1458His		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507205	0.85282	.	.	ENSG00000118997	ENST00000312428	T	0.10099	2.91	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62029	-0.6940	10	0.72032	D	0.01	.	14.5783	0.68265	1.0:0.0:0.0:0.0	.	1458	Q8WXX0	DYH7_HUMAN	H	1458	ENSP00000311273:Y1458H	ENSP00000311273:Y1458H	Y	-	1	0	DNAH7	196473427	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	9.123000	0.94387	2.122000	0.65172	0.455000	0.32223	TAT		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		11	150	11	150
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	42	28	42
FANCD2OS	115795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	10146220	10146220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:10146220C>T	ENST00000450660.2	-	2	455	c.239G>A	c.(238-240)cGc>cAc	p.R80H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.R80H	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	80																	GTTCATCGTGCGCAACTCTGA	0.532																																																0													126.0	117.0	120.0					3																	10146220		2203	4300	6503	SO:0001583	missense	115795			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.239G>A	3.37:g.10146220C>T	ENSP00000429608:p.Arg80His			Missense_Mutation	SNP	ENST00000450660.2	37	CCDS2596.1	.	.	.	.	.	.	.	.	.	.	C	8.431	0.848614	0.17034	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.62	2.89	0.33648	.	0.239980	0.29034	N	0.013343	T	0.16811	0.0404	N	0.14661	0.345	0.31195	N	0.700424	P	0.39601	0.68	B	0.25884	0.064	T	0.10567	-1.0624	9	0.72032	D	0.01	.	9.5718	0.39433	0.0:0.769:0.0:0.231	.	80	Q96PS1	CC024_HUMAN	H	80	.	ENSP00000429608:R80H	R	-	2	0	C3orf24	10121220	0.016000	0.18221	0.406000	0.26421	0.040000	0.13550	-0.014000	0.12656	0.348000	0.23949	-0.261000	0.10672	CGC		0.532	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472		6	55	6	55
SCN5A	6331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	38598771	38598771	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:38598771G>A	ENST00000333535.4	-	24	4399	c.4250C>T	c.(4249-4251)aCa>aTa	p.T1417I	SCN5A_ENST00000413689.1_Missense_Mutation_p.T1417I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1416I|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1363I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1417					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTTTAAATGTTGCCTGGGA	0.498																																																0													65.0	69.0	68.0					3																	38598771		2200	4300	6500	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4250C>T	3.37:g.38598771G>A	ENSP00000328968:p.Thr1417Ile		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368423	0.82463	.	.	ENSG00000183873	ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2;-5.2;-5.2	4.1	4.1	0.47936	Ion transport (1);	0.109562	0.64402	D	0.000007	D	0.99609	0.9858	H	0.99867	4.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;0.997	D	0.97044	0.9759	10	0.87932	D	0	.	16.8913	0.86088	0.0:0.0:1.0:0.0	.	1363;1416;1417;1416;1417	E9PEF3;E9PHB6;Q14524;Q14524-2;E9PEK2	.;.;SCN5A_HUMAN;.;.	I	1416;1417;1363;1416;1417;1416;1363;1363	ENSP00000398266:T1416I;ENSP00000410257:T1417I;ENSP00000388797:T1363I;ENSP00000397915:T1416I;ENSP00000328968:T1417I;ENSP00000399524:T1416I;ENSP00000403355:T1363I;ENSP00000413996:T1363I	ENSP00000328968:T1417I	T	-	2	0	SCN5A	38573775	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.597000	0.98273	2.262000	0.75019	0.591000	0.81541	ACA		0.498	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		7	36	7	36
KIAA1211	57482	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	57182125	57182125	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:57182125G>A	ENST00000504228.1	+	6	2562	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	KIAA1211_ENST00000264229.6_Silent_p.S819S|KIAA1211_ENST00000541073.1_Silent_p.S812S			Q6ZU35	K1211_HUMAN	KIAA1211	819										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCACGACCTCGTCGGACAGCG	0.537																																																0													87.0	92.0	90.0					4																	57182125		2063	4211	6274	SO:0001819	synonymous_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2457G>A	4.37:g.57182125G>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	CCDS43230.1																																																																																				0.537	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		25	72	25	72
PRMT9	90826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	148594115	148594115	+	Silent	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:148594115G>T	ENST00000322396.6	-	4	980	c.738C>A	c.(736-738)ccC>ccA	p.P246P	PRMT10_ENST00000541232.1_Silent_p.P133P	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		246	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.P246P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AATACCTTTCGGGAATATGTT	0.328																																																1	Substitution - coding silent(1)	lung(1)											126.0	125.0	125.0					4																	148594115		2203	4300	6503	SO:0001819	synonymous_variant	90826																														ENST00000322396.6:c.738C>A	4.37:g.148594115G>T			A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Silent	SNP	ENST00000322396.6	37	CCDS3771.1																																																																																				0.328	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1			37	103	37	103
PRPS1L1	221823	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	18067044	18067044	+	Missense_Mutation	SNP	G	G	A	rs369368833		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr7:18067044G>A	ENST00000506618.2	-	1	442	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	121					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATATGATCCGCACCTGCTAT	0.473																																																0								G	VAL/ALA	0,4406		0,0,2203	144.0	144.0	144.0		362	3.6	0.0	7		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRPS1L1	NM_175886.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	121/319	18067044	1,13005	2203	4300	6503	SO:0001583	missense	221823			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.362C>T	7.37:g.18067044G>A	ENSP00000424595:p.Ala121Val		Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085476	0.36758	0.0	1.16E-4	ENSG00000229937	ENST00000506618	D	0.91464	-2.85	4.47	3.59	0.41128	.	.	.	.	.	T	0.80204	0.4580	L	0.36672	1.1	.	.	.	P	0.41978	0.767	B	0.27608	0.081	T	0.80113	-0.1518	8	0.11182	T	0.66	.	10.5783	0.45240	0.0952:0.0:0.9048:0.0	.	121	P21108	PRPS3_HUMAN	V	121	ENSP00000424595:A121V	ENSP00000424595:A121V	A	-	2	0	PRPS1L1	18033569	1.000000	0.71417	0.014000	0.15608	0.924000	0.55760	5.797000	0.69087	1.251000	0.43983	0.650000	0.86243	GCG		0.473	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		45	77	45	77
LRRC8A	56262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	131671134	131671134	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:131671134A>G	ENST00000259324.5	+	3	2214	c.1691A>G	c.(1690-1692)gAt>gGt	p.D564G	LRRC8A_ENST00000372599.3_Missense_Mutation_p.D564G|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D564G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	564					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GTGGTCACAGATGTGGGCGTG	0.572																																																0													71.0	60.0	64.0					9																	131671134		2203	4300	6503	SO:0001583	missense	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1691A>G	9.37:g.131671134A>G	ENSP00000259324:p.Asp564Gly		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386107	0.61956	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.21361	2.01;2.01;2.01	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	L	0.28608	0.87	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.09707	-1.0662	10	0.66056	D	0.02	.	14.8411	0.70226	1.0:0.0:0.0:0.0	.	564	Q8IWT6	LRC8A_HUMAN	G	564	ENSP00000361682:D564G;ENSP00000361680:D564G;ENSP00000259324:D564G	ENSP00000259324:D564G	D	+	2	0	LRRC8A	130710955	1.000000	0.71417	0.977000	0.42913	0.980000	0.70556	9.339000	0.96797	2.099000	0.63709	0.459000	0.35465	GAT		0.572	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		12	29	12	29
CNKSR2	22866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	21534627	21534627	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:21534627G>T	ENST00000379510.3	+	9	871	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.V279L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.V279L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	279	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAAAAATTTGGTGAATGCACT	0.398																																																0													117.0	109.0	111.0					X																	21534627		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.835G>T	X.37:g.21534627G>T	ENSP00000368824:p.Val279Leu		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404227	0.83230	.	.	ENSG00000149970	ENST00000425654;ENST00000279451;ENST00000379510	T;T;T	0.35973	1.28;1.28;1.28	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	M	0.78637	2.42	0.80722	D	1	D;P	0.89917	1.0;0.747	D;P	0.91635	0.999;0.808	T	0.62329	-0.6877	10	0.35671	T	0.21	-11.2938	17.8997	0.88900	0.0:0.0:1.0:0.0	.	279;279	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	L	279	ENSP00000397906:V279L;ENSP00000279451:V279L;ENSP00000368824:V279L	ENSP00000279451:V279L	V	+	1	0	CNKSR2	21444548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.160000	0.67779	0.594000	0.82650	GTG		0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		25	12	25	12
ZKSCAN2	342357	broad.mit.edu;ucsc.edu	37	16	25251836	25251836	+	Silent	SNP	G	G	A	rs373942547		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr16:25251836G>A	ENST00000328086.7	-	7	3008	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	735					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GATGCACAACGGCTTTCCCTA	0.473																																																0								G		1,4393	2.1+/-5.4	0,1,2196	101.0	91.0	94.0		2205	-7.6	0.0	16		94	0,8600		0,0,4300	no	coding-synonymous	ZKSCAN2	NM_001012981.4		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		735/968	25251836	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2205C>T	16.37:g.25251836G>A			A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	CCDS32410.1																																																																																				0.473	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		26	51	26	51
TPR	7175	broad.mit.edu;hgsc.bcm.edu	37	1	186302356	186302358	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:186302356_186302358delGAG	ENST00000367478.4	-	37	5647_5649	c.5351_5353delCTC	c.(5350-5355)cctcag>cag	p.P1784del		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1784					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTCAATCTGAGGATGACTCTG	0.443			T	NTRK1	papillary thyroid																																		Dom	yes		1	1q25	7175	translocated promoter region		E	0																																										SO:0001651	inframe_deletion	7175			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5351_5353delCTC	1.37:g.186302356_186302358delGAG	ENSP00000356448:p.Pro1784del		Q15655|Q5SWY0|Q99968	In_Frame_Del	DEL	ENST00000367478.4	37	CCDS41446.1																																																																																				0.443	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		24	88	24	88
SNX16	64089	broad.mit.edu;hgsc.bcm.edu	37	8	82752142	82752144	+	In_Frame_Del	DEL	CTT	CTT	-	rs142163451		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:82752142_82752144delCTT	ENST00000345957.4	-	2	356_358	c.78_80delAAG	c.(76-81)agaagt>agt	p.R26del	SNX16_ENST00000396330.2_In_Frame_Del_p.R26del|SNX16_ENST00000353788.4_In_Frame_Del_p.R26del	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	26					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AAAAGAAGAACTTCTTTGATTTC	0.389																																																0																																										SO:0001651	inframe_deletion	64089			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.78_80delAAG	8.37:g.82752145_82752147delCTT	ENSP00000322652:p.Arg26del		A8K4D8|Q658L0|Q8N4U3	In_Frame_Del	DEL	ENST00000345957.4	37	CCDS6234.1																																																																																				0.389	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		40	153	40	153
HAP1	9001	broad.mit.edu;hgsc.bcm.edu	37	17	39881249	39881249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:39881249delC	ENST00000310778.5	-	12	1729	c.1720delG	c.(1720-1722)gctfs	p.A574fs	HAP1_ENST00000341193.5_Frame_Shift_Del_p.A505fs|HAP1_ENST00000347901.4_Frame_Shift_Del_p.A522fs|HAP1_ENST00000393939.2_Frame_Shift_Del_p.A497fs|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	574	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTTCCTCAGCCGGCACCTTC	0.627																																																0													238.0	230.0	233.0					17																	39881249		2203	4300	6503	SO:0001589	frameshift_variant	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1720delG	17.37:g.39881249delC	ENSP00000309392:p.Ala574fs		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Frame_Shift_Del	DEL	ENST00000310778.5	37																																																																																					0.627	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		84	324	84	324
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:11106926_11106928delAGA	ENST00000429416.3	+	11	1912_1914	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K546del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546			Missing (in MRD16). {ECO:0000269|PubMed:22426308}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"""F, N, Mis"""		NSCLC																																		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								SO:0001651	inframe_deletion	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1631_1633delAGA	19.37:g.11106929_11106931delAGA	ENSP00000395654:p.Lys546del		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	CCDS12253.1																																																																																				0.576	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		52	162	52	162
KCNG1	3755	broad.mit.edu;hgsc.bcm.edu	37	20	49626525	49626527	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:49626525_49626527delGAA	ENST00000371571.4	-	2	634_636	c.349_351delTTC	c.(349-351)ttcdel	p.F117del	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_In_Frame_Del_p.F117del|KCNG1_ENST00000506387.1_5'Flank	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	117					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTTGCGGTCGAAGAAGAACTCG	0.645																																																0																																										SO:0001651	inframe_deletion	3755			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.349_351delTTC	20.37:g.49626531_49626533delGAA	ENSP00000360626:p.Phe117del		A8K3S4|O43528|Q5JXL5|Q9BRC1	In_Frame_Del	DEL	ENST00000371571.4	37	CCDS13436.1																																																																																				0.645	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		13	49	13	49
NXF4	55999	broad.mit.edu;hgsc.bcm.edu	37	X	101818628	101818630	+	RNA	DEL	ATT	ATT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:101818628_101818630delATT	ENST00000360035.2	+	0	1098_1100					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						CCTGCCTGACATTATAGAGAAGG	0.458																																																0																																												55999			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101818628_101818630delATT				RNA	DEL	ENST00000360035.2	37																																																																																					0.458	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			13	15	13	15
