#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
OR52N5	390075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5799221	5799221	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:5799221A>G	ENST00000317093.2	-	1	676	c.644T>C	c.(643-645)aTt>aCt	p.I215T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAACACTCCAATCAGGAGAGC	0.438																																																0													137.0	120.0	126.0					11																	5799221		2121	4086	6207	SO:0001583	missense	390075			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.644T>C	11.37:g.5799221A>G	ENSP00000322866:p.Ile215Thr		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	9.044	0.990510	0.18966	.	.	ENSG00000181009	ENST00000317093	T	0.00107	8.72	3.72	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31123	U	0.008213	T	0.00178	0.0005	L	0.38175	1.15	0.26302	N	0.977954	P	0.46621	0.881	P	0.53185	0.72	T	0.50065	-0.8871	10	0.25751	T	0.34	.	8.0525	0.30585	0.8987:0.0:0.1013:0.0	.	215	Q8NH56	O52N5_HUMAN	T	215	ENSP00000322866:I215T	ENSP00000322866:I215T	I	-	2	0	OR52N5	5755797	0.000000	0.05858	0.998000	0.56505	0.642000	0.38348	0.198000	0.17217	0.607000	0.29982	0.416000	0.27883	ATT		0.438	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		15	65	15	65
TRPC6	7225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	101323746	101323746	+	Silent	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:101323746A>G	ENST00000344327.3	-	13	3160	c.2736T>C	c.(2734-2736)ctT>ctC	p.L912L	TRPC6_ENST00000348423.4_Silent_p.L796L|TRPC6_ENST00000532133.1_Silent_p.L834L|TRPC6_ENST00000360497.4_Silent_p.L857L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	912					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTCTCTAATAAGTTCTGCTA	0.368																																					Colon(166;1315 1927 11094 12848 34731)											0													177.0	177.0	177.0					11																	101323746		2203	4300	6503	SO:0001819	synonymous_variant	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2736T>C	11.37:g.101323746A>G			Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	ENST00000344327.3	37	CCDS8311.1																																																																																				0.368	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		50	96	50	96
GRIK4	2900	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	120732708	120732708	+	Missense_Mutation	SNP	G	G	T	rs137906208	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:120732708G>T	ENST00000527524.2	+	9	1072	c.785G>T	c.(784-786)cGt>cTt	p.R262L	GRIK4_ENST00000438375.2_Missense_Mutation_p.R262L|GRIK4_ENST00000527130.1_3'UTR	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	262					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GTGGATGATCGTGTCAACATC	0.483																																																0													227.0	220.0	222.0					11																	120732708		2203	4299	6502	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.785G>T	11.37:g.120732708G>T	ENSP00000435648:p.Arg262Leu		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979427	0.53827	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.81330	-1.48;-1.48	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	N	0.22421	0.69	0.54753	D	0.999989	B;B	0.10296	0.003;0.002	B;B	0.17722	0.005;0.019	T	0.68116	-0.5494	10	0.66056	D	0.02	.	20.0465	0.97608	0.0:0.0:1.0:0.0	.	262;262	A6H8K8;Q16099	.;GRIK4_HUMAN	L	262	ENSP00000435648:R262L;ENSP00000404063:R262L	ENSP00000404063:R262L	R	+	2	0	GRIK4	120237918	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.288000	0.65651	2.735000	0.93741	0.557000	0.71058	CGT		0.483	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		76	84	76	84
CLEC7A	64581	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	10277909	10277909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:10277909C>T	ENST00000304084.8	-	4	633	c.479G>A	c.(478-480)aGc>aAc	p.S160N	CLEC7A_ENST00000533022.1_Missense_Mutation_p.S160N|CLEC7A_ENST00000298523.5_Missense_Mutation_p.S114N|CLEC7A_ENST00000396484.2_Missense_Mutation_p.S81N|CLEC7A_ENST00000353231.5_Missense_Mutation_p.S114N	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	160	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTCATTTGAGCTGTCTATCTT	0.388																																																0													109.0	106.0	107.0					12																	10277909		2203	4300	6503	SO:0001583	missense	64581			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.479G>A	12.37:g.10277909C>T	ENSP00000302569:p.Ser160Asn		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	CCDS41753.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.305080	0.01353	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000396484;ENST00000304084;ENST00000533022	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	4.68	-3.6	0.04570	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.709675	0.13361	N	0.393668	T	0.08670	0.0215	N	0.20401	0.57	0.21861	N	0.999504	B;B;B;B;B;B;B	0.16603	0.016;0.016;0.018;0.005;0.007;0.006;0.008	B;B;B;B;B;B;B	0.17979	0.02;0.02;0.011;0.014;0.013;0.014;0.008	T	0.40478	-0.9561	10	0.07644	T	0.81	.	5.6454	0.17586	0.0:0.2224:0.2754:0.5022	.	114;160;81;160;114;160;114	Q9BXN2-6;Q9BXN2-4;Q9BXN2-5;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;CLC7A_HUMAN;.	N	114;114;81;160;160	ENSP00000266456:S114N;ENSP00000298523:S114N;ENSP00000379743:S81N;ENSP00000302569:S160N;ENSP00000431461:S160N	ENSP00000298523:S114N	S	-	2	0	CLEC7A	10169176	0.002000	0.14202	0.002000	0.10522	0.078000	0.17371	-0.630000	0.05502	-0.770000	0.04614	-0.808000	0.03180	AGC		0.388	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954		12	83	12	83
SH2B3	10019	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	111885211	111885211	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:111885211G>A	ENST00000341259.2	+	6	1456	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	SH2B3_ENST00000538307.1_Missense_Mutation_p.G165S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	367	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CTGGTTCCACGGCCCCATCTC	0.622																																																0													67.0	72.0	70.0					12																	111885211		2203	4300	6503	SO:0001583	missense	10019			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1099G>A	12.37:g.111885211G>A	ENSP00000345492:p.Gly367Ser		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403533	0.96051	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.73363	-0.74;-0.74	5.0	5.0	0.66597	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	D	0.89639	0.3861	10	0.66056	D	0.02	-39.2809	18.6561	0.91455	0.0:0.0:1.0:0.0	.	165;231;367	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	S	367;177;165	ENSP00000345492:G367S;ENSP00000440597:G165S	ENSP00000345492:G367S	G	+	1	0	SH2B3	110369594	1.000000	0.71417	0.978000	0.43139	0.923000	0.55619	9.364000	0.97136	2.482000	0.83794	0.462000	0.41574	GGC		0.622	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		23	57	23	57
NPAP1	23742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	24924397	24924397	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:24924397G>C	ENST00000329468.2	+	1	3857	c.3383G>C	c.(3382-3384)tGg>tCg	p.W1128S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1128					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGCACACATGGACAGAGAGA	0.478																																																0													133.0	116.0	121.0					15																	24924397		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3383G>C	15.37:g.24924397G>C	ENSP00000333735:p.Trp1128Ser			Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.96	1.497869	0.26861	.	.	ENSG00000185823	ENST00000329468	T	0.09073	3.02	1.79	0.849	0.18972	.	.	.	.	.	T	0.04543	0.0124	N	0.22421	0.69	0.09310	N	1	P	0.44344	0.833	B	0.35182	0.197	T	0.37009	-0.9724	9	0.66056	D	0.02	.	4.1284	0.10138	0.2188:0.0:0.7812:0.0	.	1128	Q9NZP6	CO002_HUMAN	S	1128	ENSP00000333735:W1128S	ENSP00000333735:W1128S	W	+	2	0	C15orf2	22475490	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.240000	0.08952	0.321000	0.23259	0.313000	0.20887	TGG		0.478	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		45	91	45	91
EXD1	161829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	41476577	41476577	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:41476577G>A	ENST00000314992.5	-	10	1287	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	EXD1_ENST00000458580.2_Missense_Mutation_p.P424L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	366							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTAAAACTTGGAGCTTTATC	0.378																																																0													116.0	126.0	123.0					15																	41476577		2203	4300	6503	SO:0001583	missense	161829			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1097C>T	15.37:g.41476577G>A	ENSP00000321029:p.Pro366Leu		A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350825	0.41599	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.44482	0.92;0.94	5.25	2.29	0.28610	.	0.203877	0.32081	N	0.006615	T	0.34019	0.0883	L	0.55103	1.725	0.09310	N	1	B;B;B	0.27997	0.003;0.003;0.197	B;B;B	0.28465	0.003;0.003;0.09	T	0.34079	-0.9843	10	0.87932	D	0	-19.7425	5.7117	0.17938	0.1717:0.0:0.6669:0.1614	.	424;366;164	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	L	366;424	ENSP00000321029:P366L;ENSP00000415056:P424L	ENSP00000321029:P366L	P	-	2	0	EXD1	39263869	0.585000	0.26774	0.021000	0.16686	0.799000	0.45148	1.269000	0.33074	0.852000	0.35287	0.655000	0.94253	CCA		0.378	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		52	89	52	89
TANGO6	79613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	68894132	68894132	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:68894132T>C	ENST00000261778.1	+	2	452	c.440T>C	c.(439-441)tTc>tCc	p.F147S		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	147						integral component of membrane (GO:0016021)											ACTGTCCAGTTCGTTTTGCAG	0.483																																																0													218.0	205.0	209.0					16																	68894132		1969	4173	6142	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.440T>C	16.37:g.68894132T>C	ENSP00000261778:p.Phe147Ser		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	T	1.935	-0.444895	0.04604	.	.	ENSG00000103047	ENST00000261778	T	0.65549	-0.16	5.23	4.28	0.50868	.	.	.	.	.	T	0.20618	0.0496	N	0.00099	-2.14	0.24510	N	0.994218	B	0.02656	0.0	B	0.01281	0.0	T	0.12811	-1.0533	9	0.05436	T	0.98	0.0133	11.935	0.52868	0.0:0.9126:0.0:0.0874	.	147	Q9C0B7	TMCO7_HUMAN	S	147	ENSP00000261778:F147S	ENSP00000261778:F147S	F	+	2	0	TMCO7	67451633	0.996000	0.38824	0.823000	0.32752	0.577000	0.36160	3.588000	0.53964	1.185000	0.42971	-0.366000	0.07423	TTC		0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		72	98	72	98
CD22	933	hgsc.bcm.edu;broad.mit.edu	37	19	35832001	35832001	+	Silent	SNP	T	T	C	rs200102428	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:35832001T>C	ENST00000085219.5	+	7	1533	c.1467T>C	c.(1465-1467)agT>agC	p.S489S	CD22_ENST00000270311.6_Silent_p.S369S|CD22_ENST00000544992.2_Silent_p.S489S|CD22_ENST00000341773.6_Silent_p.S312S|CD22_ENST00000594250.1_Silent_p.S312S|CD22_ENST00000419549.2_Silent_p.S317S|CD22_ENST00000536635.2_Silent_p.S401S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	489	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTTGTAATAGTTGGTGCTCGT	0.622																																					Ovarian(42;1009 1133 23674 26041)											0								T	,,,	0,4406		0,0,2203	90.0	81.0	84.0		1203,1467,936,1467	-9.9	0.0	19		84	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	,,,	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,,,	401/760,489/752,312/671,489/848	35832001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	933			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1467T>C	19.37:g.35832001T>C			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	CCDS12457.1																																																																																				0.622	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		4	47	4	47
MMEL1	79258	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	2529663	2529663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:2529663G>A	ENST00000378412.3	-	13	1416	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	MMEL1_ENST00000288709.6_Nonsense_Mutation_p.R410*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R262*			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	419						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGTTCACTCGTGTGTCCTTG	0.582																																																0													149.0	143.0	145.0					1																	2529663		2203	4300	6503	SO:0001587	stop_gained	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1255C>T	1.37:g.2529663G>A	ENSP00000367668:p.Arg419*		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Nonsense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661263	0.88154	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	.	.	.	4.75	3.84	0.44239	.	0.059955	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2718	11.6254	0.51142	0.0878:0.0:0.9122:0.0	.	.	.	.	X	262;410;419;262	.	ENSP00000288709:R410X	R	-	1	2	MMEL1	2519523	1.000000	0.71417	0.002000	0.10522	0.026000	0.11368	4.456000	0.60081	1.005000	0.39183	0.591000	0.81541	CGA		0.582	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		35	12	35	12
TPM3	7170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	154145663	154145663	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:154145663A>G	ENST00000368530.2	-	4	584	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TPM3_ENST00000368533.3_Missense_Mutation_p.I94T|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Missense_Mutation_p.I94T|TPM3_ENST00000323144.7_Missense_Mutation_p.I94T|TPM3_ENST00000271850.7_Missense_Mutation_p.I131T|TPM3_ENST00000302206.5_Missense_Mutation_p.I4T|TPM3_ENST00000341372.3_Missense_Mutation_p.I69T|TPM3_ENST00000328159.4_Missense_Mutation_p.I94T|TPM3_ENST00000368531.2_Missense_Mutation_p.I94T|TPM3_ENST00000469717.1_5'UTR	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	131					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCGGTTTTCAATAACCTTCAT	0.433			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																		Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	0													70.0	70.0	70.0					1																	154145663		2203	4300	6503	SO:0001583	missense	7170			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.392T>C	1.37:g.154145663A>G	ENSP00000357516:p.Ile131Thr		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244106	0.59103	.	.	ENSG00000143549	ENST00000368533;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.91459	3.21	0.47276	D	0.999372	B;B;D;B;B;P;B	0.71674	0.28;0.069;0.998;0.013;0.007;0.491;0.134	P;B;D;B;B;P;B	0.80764	0.549;0.267;0.994;0.092;0.125;0.701;0.419	D	0.99758	1.1020	10	0.87932	D	0	-1.5229	16.3829	0.83481	1.0:0.0:0.0:0.0	.	28;94;130;94;94;94;94	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	T	94;94;70;94;131;4;94;94;131	ENSP00000357521:I94T;ENSP00000339035:I94T;ENSP00000339378:I70T;ENSP00000357520:I94T;ENSP00000271850:I131T;ENSP00000307712:I4T;ENSP00000357517:I94T;ENSP00000357518:I94T;ENSP00000357516:I131T	ENSP00000271850:I131T	I	-	2	0	TPM3	152412287	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.268000	0.95675	2.271000	0.75665	0.459000	0.35465	ATT		0.433	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		17	38	17	38
COBLL1	22837	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	165579003	165579003	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:165579003T>C	ENST00000392717.2	-	6	809	c.805A>G	c.(805-807)Att>Gtt	p.I269V	COBLL1_ENST00000409184.3_Missense_Mutation_p.I269V|COBLL1_ENST00000194871.6_Missense_Mutation_p.I297V|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Missense_Mutation_p.I231V|COBLL1_ENST00000375458.2_Missense_Mutation_p.I231V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	269						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCCTTCATAATATCTAGGTTT	0.313																																																0													53.0	59.0	57.0					2																	165579003		2200	4294	6494	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.805A>G	2.37:g.165579003T>C	ENSP00000376478:p.Ile269Val		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.38|12.38	1.919261|1.919261	0.33908|0.33908	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871|ENST00000452626	D;D;D;D;D|.	0.91894|.	-2.91;-2.91;-2.86;-2.91;-2.93|.	5.88|5.88	3.42|3.42	0.39159|0.39159	Cordon-bleu domain (1);|.	0.464796|.	0.27340|.	N|.	0.019808|.	T|T	0.22044|0.22044	0.0531|0.0531	L|L	0.27053|0.27053	0.805|0.805	0.24548|0.24548	N|N	0.994031|0.994031	B;B;B|.	0.31026|.	0.304;0.304;0.128|.	B;B;B|.	0.26310|.	0.068;0.068;0.041|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|5	0.10377|.	T|.	0.69|.	-4.5218|-4.5218	1.4004|1.4004	0.02270|0.02270	0.1862:0.1084:0.1652:0.5403|0.1862:0.1084:0.1652:0.5403	.|.	269;297;269|.	Q53SF7;B7Z2P5;Q53SF7-2|.	COBL1_HUMAN;.;.|.	V|C	231;231;269;269;297|233	ENSP00000364607:I231V;ENSP00000341360:I231V;ENSP00000387326:I269V;ENSP00000376478:I269V;ENSP00000194871:I297V|.	ENSP00000194871:I297V|.	I|Y	-|-	1|2	0|0	COBLL1|COBLL1	165287249|165287249	0.772000|0.772000	0.28567|0.28567	0.980000|0.980000	0.43619|0.43619	0.990000|0.990000	0.78478|0.78478	0.657000|0.657000	0.24963|0.24963	0.432000|0.432000	0.26286|0.26286	0.460000|0.460000	0.39030|0.39030	ATT|TAT		0.313	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		27	33	27	33
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	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			43	59	43	59
USP37	57695	hgsc.bcm.edu;broad.mit.edu	37	2	219321847	219321847	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:219321847A>C	ENST00000258399.3	-	24	3093	c.2681T>G	c.(2680-2682)gTt>gGt	p.V894G	USP37_ENST00000415516.1_Missense_Mutation_p.V800G|USP37_ENST00000454775.1_Missense_Mutation_p.V894G|USP37_ENST00000418019.1_Missense_Mutation_p.V894G	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	894	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTGACTGACAACACTGATGAG	0.363																																																0													101.0	90.0	94.0					2																	219321847		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2681T>G	2.37:g.219321847A>C	ENSP00000258399:p.Val894Gly		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582159	0.86748	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.060878	0.64402	D	0.000004	T	0.61413	0.2345	M	0.61703	1.905	0.80722	D	1	D;D	0.62365	0.989;0.991	P;P	0.59825	0.787;0.864	T	0.66575	-0.5889	10	0.87932	D	0	-12.5741	14.0188	0.64541	1.0:0.0:0.0:0.0	.	800;894	Q86T82-2;Q86T82	.;UBP37_HUMAN	G	894;894;800;894	ENSP00000258399:V894G;ENSP00000393662:V894G;ENSP00000400902:V800G;ENSP00000396585:V894G	ENSP00000258399:V894G	V	-	2	0	USP37	219030091	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.002000	0.93572	1.887000	0.54652	0.533000	0.62120	GTT		0.363	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		4	49	4	49
MAGI2	9863	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	77998517	77998517	+	Silent	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:77998517G>C	ENST00000354212.4	-	7	1312	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G	MAGI2_ENST00000535697.1_Silent_p.G190G|MAGI2_ENST00000419488.1_Silent_p.G353G|MAGI2_ENST00000522391.1_Silent_p.G353G|MAGI2_ENST00000536571.1_Silent_p.G185G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	353	Interaction with DDN.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTTTCCCAGCCATATGGAA	0.274																																																0													59.0	60.0	60.0					7																	77998517		2203	4300	6503	SO:0001819	synonymous_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1059C>G	7.37:g.77998517G>C			A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	CCDS5594.1																																																																																				0.274	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		15	43	15	43
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	82583261	82583261	+	Silent	SNP	G	G	A	rs181143686	byFrequency	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428													G|||	3	0.000599042	0.0023	0.0	5008	,	,		11761	0.0		0.0	False		,,,				2504	0.0															0								G	,	2,3710		0,2,1854	103.0	104.0	104.0		7008,7008	-5.3	0.0	7		104	0,8200		0,0,4100	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5954	AA,AG,GG		0.0,0.0539,0.0168	,	2336/4936,2336/5143	82583261	2,11910	1856	4100	5956	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7008C>T	7.37:g.82583261G>A				Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		45	49	45	49
TMEM176A	55365	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	150500857	150500857	+	Silent	SNP	C	C	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Silent_p.P105P|TMEM176A_ENST00000004103.3_Silent_p.P164P			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537																																																0													61.0	61.0	61.0					7																	150500857		2203	4300	6503	SO:0001819	synonymous_variant	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.492C>A	7.37:g.150500857C>A			D3DX00|Q9NYC7	Silent	SNP	ENST00000484928.1	37	CCDS5909.1																																																																																				0.537	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		20	45	20	45
RNF32	140545	hgsc.bcm.edu;broad.mit.edu	37	7	156447399	156447399	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:156447399A>G	ENST00000405335.1	+	5	813	c.404A>G	c.(403-405)gAg>gGg	p.E135G	AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Missense_Mutation_p.E135G|RNF32_ENST00000392743.2_Missense_Mutation_p.E135G|RNF32_ENST00000311822.8_Missense_Mutation_p.E135G|RNF32_ENST00000343665.4_Missense_Mutation_p.E135G|RNF32_ENST00000392741.2_Missense_Mutation_p.E135G|RNF32_ENST00000317955.5_Missense_Mutation_p.E135G|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	135						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAATTCGAGCTTCGTCCT	0.542																																																0													110.0	92.0	98.0					7																	156447399		2203	4300	6503	SO:0001583	missense	140545				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.404A>G	7.37:g.156447399A>G	ENSP00000385285:p.Glu135Gly		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	A	1.110	-0.658478	0.03454	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;1.97	5.34	-1.76	0.08006	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	1.118790	0.06539	N	0.742857	T	0.29288	0.0729	N	0.20530	0.585	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.001;0.002	B;B;B;B	0.12156	0.002;0.002;0.004;0.007	T	0.21042	-1.0257	10	0.20519	T	0.43	-3.4559	7.2965	0.26395	0.2717:0.4244:0.3039:0.0	.	135;135;135;135	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	G	135	ENSP00000385815:E135G;ENSP00000405588:E135G;ENSP00000315950:E135G;ENSP00000385285:E135G;ENSP00000308894:E135G;ENSP00000376499:E135G;ENSP00000376497:E135G;ENSP00000341185:E135G	ENSP00000308894:E135G	E	+	2	0	RNF32	156140160	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.120000	0.10660	-0.571000	0.06014	-0.408000	0.06270	GAG		0.542	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		4	55	4	55
PSMD5	5711	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	123586941	123586941	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:123586941G>T	ENST00000210313.3	-	7	911	c.837C>A	c.(835-837)aaC>aaA	p.N279K	PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.N236K	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGACAGCCAGGTTTCCAAAAA	0.388																																																0													68.0	71.0	70.0					9																	123586941		2203	4300	6503	SO:0001583	missense	5711			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.837C>A	9.37:g.123586941G>T	ENSP00000210313:p.Asn279Lys		B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413762	0.62511	.	.	ENSG00000095261	ENST00000210313;ENST00000373904;ENST00000373903	T;T	0.27402	1.67;1.67	6.17	4.33	0.51752	Armadillo-type fold (1);	0.042539	0.85682	D	0.000000	T	0.46425	0.1392	M	0.78637	2.42	0.49915	D	0.999837	D;D	0.54601	0.967;0.967	P;D	0.63113	0.904;0.911	T	0.53415	-0.8442	10	0.06236	T	0.91	.	10.8103	0.46543	0.2027:0.0:0.7973:0.0	.	236;279	B4DZM8;Q16401	.;PSMD5_HUMAN	K	279;236;50	ENSP00000210313:N279K;ENSP00000363011:N236K	ENSP00000210313:N279K	N	-	3	2	PSMD5	122626762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.177000	0.42509	1.616000	0.50265	0.655000	0.94253	AAC		0.388	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2	NM_005047		27	45	27	45
TLR7	51284	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:12904193G>C	ENST00000380659.3	+	3	705	c.566G>C	c.(565-567)tGt>tCt	p.C189S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383																																																0													49.0	48.0	48.0					X																	12904193		2203	4300	6503	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.566G>C	X.37:g.12904193G>C	ENSP00000370034:p.Cys189Ser		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146764	0.77888	.	.	ENSG00000196664	ENST00000380659	T	0.34275	1.37	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64537	-0.6384	10	0.87932	D	0	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	189	Q9NYK1	TLR7_HUMAN	S	189	ENSP00000370034:C189S	ENSP00000370034:C189S	C	+	2	0	TLR7	12814114	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	9.799000	0.99117	2.252000	0.74401	0.589000	0.80489	TGT		0.383	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		28	50	28	50
CIC	23152	broad.mit.edu;ucsc.edu	37	19	42791815	42791815	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:42791815T>A	ENST00000575354.2	+	5	741	c.701T>A	c.(700-702)cTg>cAg	p.L234Q	CIC_ENST00000160740.3_Missense_Mutation_p.L234Q|CIC_ENST00000572681.2_Missense_Mutation_p.L1143Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I233_L234>M(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAAGATCCTGGGCGAGTGG	0.617			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Complex - deletion inframe(1)	central_nervous_system(1)											81.0	75.0	77.0					19																	42791815		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.701T>A	19.37:g.42791815T>A	ENSP00000458663:p.Leu234Gln		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968947	0.53614	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88194	0.6371	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91613	0.5304	8	0.87932	D	0	-7.7195	11.626	0.51145	0.0:0.0:0.0:1.0	.	234	Q96RK0	CIC_HUMAN	Q	234	.	ENSP00000160740:L234Q	L	+	2	0	CIC	47483655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.560000	0.82277	1.853000	0.53794	0.454000	0.30748	CTG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	11	21	11
CABLES1	91768	broad.mit.edu;ucsc.edu	37	18	20837289	20837289	+	Silent	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr18:20837289C>T	ENST00000256925.7	+	10	1860	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	CABLES1_ENST00000400473.2_Silent_p.H293H|RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000420687.2_Silent_p.H355H|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	620					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCCGAGCACGAAGTCATGC	0.557																																																0													68.0	69.0	68.0					18																	20837289		1931	4127	6058	SO:0001819	synonymous_variant	91768			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1860C>T	18.37:g.20837289C>T			B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Silent	SNP	ENST00000256925.7	37	CCDS42417.1																																																																																				0.557	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		9	39	9	39
DMPK	1760	broad.mit.edu;ucsc.edu	37	19	46275947	46275947	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:46275947G>A	ENST00000291270.4	-	10	1421	c.1296C>T	c.(1294-1296)caC>caT	p.H432H	DMPK_ENST00000600757.1_Silent_p.H437H|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000343373.4_Silent_p.H442H|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000354227.5_Silent_p.H427H|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000447742.2_Silent_p.H427H|DMPK_ENST00000595361.1_5'Flank|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000458663.2_Silent_p.H427H|AC074212.6_ENST00000591530.1_RNA	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	432					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGCTTGCACGTGTGGCTCAA	0.632																																					Esophageal Squamous(35;307 869 9153 24033 28903)											0													50.0	51.0	51.0					19																	46275947		2203	4300	6503	SO:0001819	synonymous_variant	1760			L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1296C>T	19.37:g.46275947G>A			E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	CCDS12674.1																																																																																				0.632	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		20	3	20	3
HDX	139324	broad.mit.edu;ucsc.edu	37	X	83616611	83616611	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:83616611G>T	ENST00000297977.5	-	5	1426	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	HDX_ENST00000373177.2_Missense_Mutation_p.R439S|HDX_ENST00000506585.2_Missense_Mutation_p.R381S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	439						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGAGTGCGGTCCTGTAGC	0.378																																					Pancreas(53;231 1169 36156 43751 51139)											0													53.0	41.0	45.0					X																	83616611		2203	4300	6503	SO:0001583	missense	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1315C>A	X.37:g.83616611G>T	ENSP00000297977:p.Arg439Ser		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160748	0.78226	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	D;D;D	0.99167	-5.51;-5.51;-5.51	5.35	5.35	0.76521	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99023	0.9666	L	0.55990	1.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99919	1.1240	10	0.87932	D	0	-29.3063	18.1973	0.89826	0.0:0.0:1.0:0.0	.	439	Q7Z353	HDX_HUMAN	S	439;381;439	ENSP00000297977:R439S;ENSP00000362272:R381S;ENSP00000423670:R439S	ENSP00000297977:R439S	R	-	1	0	HDX	83503267	1.000000	0.71417	0.956000	0.39512	0.875000	0.50365	7.477000	0.81069	2.235000	0.73313	0.544000	0.68410	CGC		0.378	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		14	20	14	20
ACN9	57001	broad.mit.edu;ucsc.edu	37	7	96747045	96747045	+	Silent	SNP	C	C	A	rs199949264		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:96747045C>A	ENST00000360382.4	+	1	11	c.10C>A	c.(10-12)Cgg>Agg	p.R4R	ACN9_ENST00000432641.2_Silent_p.R4R					ACN9 homolog (S. cerevisiae)											large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TATGCCGGGGCGGCACGTTTC	0.647																																																0													62.0	64.0	63.0					7																	96747045		2203	4300	6503	SO:0001819	synonymous_variant	57001			BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.10C>A	7.37:g.96747045C>A				Silent	SNP	ENST00000360382.4	37																																																																																					0.647	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3	NM_020186		28	43	28	43
CAPNS2	84290	broad.mit.edu;ucsc.edu	37	16	55600782	55600782	+	Silent	SNP	A	A	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:55600782A>G	ENST00000457326.2	+	1	199	c.114A>G	c.(112-114)ggA>ggG	p.G38G	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	38	Gly-rich.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAAATATTGGAGGGATAGTTG	0.507																																																0													94.0	90.0	92.0					16																	55600782		1929	4132	6061	SO:0001819	synonymous_variant	84290			AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.114A>G	16.37:g.55600782A>G			Q9BPV4	Silent	SNP	ENST00000457326.2	37	CCDS54010.1																																																																																				0.507	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		3	30	3	30
POP1	10940	broad.mit.edu;ucsc.edu	37	8	99169863	99169863	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr8:99169863G>A	ENST00000401707.2	+	16	2520	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	POP1_ENST00000349693.3_Silent_p.K813K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	813					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATTACTGAAGCAACTGTCAG	0.488																																																0													46.0	50.0	48.0					8																	99169863		2203	4298	6501	SO:0001819	synonymous_variant	10940			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2439G>A	8.37:g.99169863G>A			A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	CCDS6277.1																																																																																				0.488	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		7	60	7	60
GGT7	2686	broad.mit.edu;ucsc.edu	37	20	33439058	33439058	+	Silent	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:33439058C>T	ENST00000336431.5	-	13	1745	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	567					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGAGGCCCCGCGCAGCTCCAT	0.637																																																0													45.0	47.0	46.0					20																	33439058		2203	4300	6503	SO:0001819	synonymous_variant	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1701G>A	20.37:g.33439058C>T			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	CCDS13242.2																																																																																				0.637	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		10	30	10	30
SMARCA4	6597	broad.mit.edu;ucsc.edu	37	19	11141525	11141525	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:11141525G>C	ENST00000429416.3	+	26	3783	c.3502G>C	c.(3502-3504)Gca>Cca	p.A1168P	SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1168P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1168P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1168	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				CCTCCAGTCGGCAGACACTGT	0.607			"""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)											23.0	24.0	24.0					19																	11141525		2200	4297	6497	SO:0001583	missense	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.3502G>C	19.37:g.11141525G>C	ENSP00000395654:p.Ala1168Pro		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636699	0.87760	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.59	4.59	0.56863	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95367	0.8496	H	0.99979	5.185	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97855	1.0277	10	0.87932	D	0	-20.4861	16.3247	0.82975	0.0:0.0:1.0:0.0	.	1168;1168;1168;1168;1168;388;1168;1168	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	P	1168;1168;1232;1168;1168;1168;1168;1168	ENSP00000395654:A1168P;ENSP00000350720:A1168P;ENSP00000343896:A1168P;ENSP00000445036:A1168P;ENSP00000392837:A1168P;ENSP00000397783:A1168P;ENSP00000414727:A1168P	ENSP00000343896:A1168P	A	+	1	0	SMARCA4	11002525	1.000000	0.71417	0.475000	0.27278	0.782000	0.44232	9.356000	0.97091	2.389000	0.81357	0.563000	0.77884	GCA		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	8	3	8
TMEM131	23505	broad.mit.edu;ucsc.edu	37	2	98377070	98377070	+	Silent	SNP	G	G	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:98377070G>A	ENST00000186436.5	-	38	5322	c.5094C>T	c.(5092-5094)agC>agT	p.S1698S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1698	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGAGCCATCGCTGTCAACAG	0.478																																																0													88.0	89.0	89.0					2																	98377070		1956	4150	6106	SO:0001819	synonymous_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5094C>T	2.37:g.98377070G>A				Silent	SNP	ENST00000186436.5	37	CCDS46368.1																																																																																				0.478	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		4	7	4	7
MAGEE2	139599	broad.mit.edu;ucsc.edu	37	X	75004654	75004654	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:75004654C>T	ENST00000373359.2	-	1	425	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	78										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCCCCCAAACGTCTGGACTG	0.557																																																0													41.0	38.0	39.0					X																	75004654		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.233G>A	X.37:g.75004654C>T	ENSP00000362457:p.Arg78His		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093367	0.56075	.	.	ENSG00000186675	ENST00000373359	T	0.03717	3.83	2.87	2.0	0.26442	.	.	.	.	.	T	0.01976	0.0062	N	0.19112	0.55	0.25242	N	0.989745	B	0.33238	0.403	B	0.19391	0.025	T	0.47058	-0.9146	9	0.15066	T	0.55	.	5.2509	0.15521	0.0:0.8343:0.0:0.1657	.	78	Q8TD90	MAGE2_HUMAN	H	78	ENSP00000362457:R78H	ENSP00000362457:R78H	R	-	2	0	MAGEE2	74921379	0.990000	0.36364	0.996000	0.52242	0.967000	0.64934	0.074000	0.14662	0.625000	0.30304	0.513000	0.50165	CGT		0.557	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		12	37	12	37
