#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TTN	7273	broad.mit.edu	37	2	179433152	179433152	+	Missense_Mutation	SNP	C	C	T	rs570615498		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:179433152C>T	ENST00000591111.1	-	276	73008	c.72784G>A	c.(72784-72786)Gtc>Atc	p.V24262I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17030I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25903I|TTN_ENST00000342992.6_Missense_Mutation_p.V23335I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16963I|TTN_ENST00000460472.2_Missense_Mutation_p.V16838I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24262	Fibronectin type-III 76. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCACTGACGTCATCAAAT	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23157	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(77707-77709)Gtc>Atc		titin							120.0	105.0	110.0					2																	179433152		1877	4117	5994	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433152C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72784G>A	2.37:g.179433152C>T	ENSP00000465570:p.Val24262Ile					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16963I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23335I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16838I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24262I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17030I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.V25903I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77931	-			24262			Fibronectin type-III 88.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77707G>A		.	.	.	.	.	.	.	.	.	.	C	9.165	1.019580	0.19355	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.03	4.23	0.50019	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44953	0.1318	L	0.42008	1.315	0.27457	N	0.953272	B;B;B;B	0.13594	0.002;0.002;0.008;0.002	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.43310	-0.9399	9	0.87932	D	0	.	9.6238	0.39739	0.0:0.6816:0.0:0.3184	.	16838;16963;17030;24262	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23335;16838;17030;16963;16836	ENSP00000343764:V23335I;ENSP00000434586:V16838I;ENSP00000340554:V17030I;ENSP00000352154:V16963I	ENSP00000340554:V17030I	V	-	1	0	TTN	179141398	0.765000	0.28485	0.999000	0.59377	0.966000	0.64601	0.637000	0.24659	0.860000	0.35481	-0.137000	0.14449	GTC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	40	0	0	0	0.278610	0	8	40				
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060	byFrequency	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400217.2_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.H236R(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ATAATTGTCATGTCCATGGAA	0.373																																						ENST00000217244.3																			2	Substitution - Missense(2)	p.H236R(2)	lung(1)|central_nervous_system(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(706-708)cAt>cGt		casein kinase 2, alpha 1 polypeptide							94.0	83.0	87.0					20																	470440		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:470440T>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.707A>G	20.37:g.470440T>C	ENSP00000217244:p.His236Arg					CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R	p.H236R	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		10	1082	-		Breast(17;0.231)	236			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.707A>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018985	0.54576	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096383	0.85682	D	0.000000	T	0.35566	0.0936	N	0.01640	-0.785	0.80722	D	1	B	0.16166	0.016	B	0.13407	0.009	T	0.27088	-1.0084	10	0.40728	T	0.16	-5.9305	14.2644	0.66107	0.0:0.0:0.0:1.0	.	236	P68400	CSK21_HUMAN	R	236;236;236;236;100	ENSP00000383086:H236R;ENSP00000339247:H236R;ENSP00000217244:H236R;ENSP00000383076:H100R	ENSP00000217244:H236R	H	-	2	0	CSNK2A1	418440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.791000	0.85805	2.213000	0.71641	0.477000	0.44152	CAT		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		5	40	0	0	0	0.248553	0	5	40				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	40	0	0	0	0.217242	0	5	40				
LAMA3	3909	broad.mit.edu	37	18	21330907	21330907	+	Missense_Mutation	SNP	G	G	A	rs527373647		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr18:21330907G>A	ENST00000313654.9	+	5	951	c.710G>A	c.(709-711)cGt>cAt	p.R237H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R237H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	237	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATAAACGGTCGTCCAGGTGCA	0.393																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(709-711)cGt>cAt		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						128.0	125.0	126.0					18																	21330907		1869	4092	5961	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330907G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.710G>A	18.37:g.21330907G>A	ENSP00000324532:p.Arg237His					LAMA3_ENST00000399516.3_Missense_Mutation_p.R237H	p.R237H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			5	951	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		237			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.710G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378691	0.95945	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	D;D	0.81996	-1.56;-1.56	5.64	5.64	0.86602	Laminin, N-terminal (3);	.	.	.	.	D	0.93628	0.7965	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.94592	0.7788	9	0.87932	D	0	.	19.7075	0.96079	0.0:0.0:1.0:0.0	.	237;237;237	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	H	237	ENSP00000324532:R237H;ENSP00000382432:R237H	ENSP00000324532:R237H	R	+	2	0	LAMA3	19584905	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.459000	0.97638	2.643000	0.89663	0.655000	0.94253	CGT		0.393	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		51	81	0	0	0	0.870114	0	51	81				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	110	0	0	0	0.248553	0	5	110				
RAVER2	55225	broad.mit.edu	37	1	65268661	65268661	+	Missense_Mutation	SNP	G	G	A	rs376591892		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:65268661G>A	ENST00000294428.3	+	6	1186	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	RAVER2_ENST00000371072.4_Missense_Mutation_p.V370I|RAVER2_ENST00000430964.2_Missense_Mutation_p.V76I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	370						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						tCTCAAAGCCGTTCTTGGAAC	0.299																																						ENST00000294428.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(1108-1110)Gtt>Att		ribonucleoprotein, PTB-binding 2		G	ILE/VAL	0,3648		0,0,1824	117.0	106.0	109.0		1108	5.7	0.2	1		109	1,8179		0,1,4089	no	missense	RAVER2	NM_018211.3	29	0,1,5913	AA,AG,GG		0.0122,0.0,0.0085	benign	370/679	65268661	1,11827	1824	4090	5914	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65268661G>A	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1108G>A	1.37:g.65268661G>A	ENSP00000294428:p.Val370Ile					RAVER2_ENST00000371072.4_Missense_Mutation_p.V370I|RAVER2_ENST00000430964.2_Missense_Mutation_p.V76I	p.V370I			Q9HCJ3	RAVR2_HUMAN			6	1186	+			370					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1108G>A		.	.	.	.	.	.	.	.	.	.	G	9.339	1.062593	0.19987	0.0	1.22E-4	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.32515	1.45;1.46	5.67	5.67	0.87782	.	0.553031	0.19202	N	0.120169	T	0.21921	0.0528	L	0.50333	1.59	0.21841	N	0.999516	D;D	0.67145	0.993;0.996	B;P	0.47573	0.348;0.55	T	0.15896	-1.0421	10	0.21014	T	0.42	-20.7975	17.5522	0.87879	0.0:0.0:1.0:0.0	.	370;370	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	I	370;370;76	ENSP00000360112:V370I;ENSP00000294428:V370I	ENSP00000294428:V370I	V	+	1	0	RAVER2	65041249	1.000000	0.71417	0.176000	0.23000	0.001000	0.01503	4.218000	0.58554	2.668000	0.90789	0.643000	0.83706	GTT		0.299	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		3	38	0	0	0	0.115264	0	3	38				
ITPR1	3708	broad.mit.edu	37	3	4725122	4725122	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:4725122C>T	ENST00000443694.2	+	24	3169	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C	ITPR1_ENST00000456211.2_Missense_Mutation_p.R1048C|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1063C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1072C|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1057C|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1063C			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1072					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AACCTTTCTCCGTGTCCTGCT	0.582																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(3214-3216)Cgt>Tgt		inositol 1,4,5-trisphosphate receptor, type 1							156.0	150.0	152.0					3																	4725122		2014	4179	6193	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725122C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3169C>T	3.37:g.4725122C>T	ENSP00000401671:p.Arg1057Cys					ITPR1_ENST00000357086.4_Missense_Mutation_p.R1063C|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1048C|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1057C|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1063C|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1057C|ITPR1_ENST00000544951.1_Intron	p.R1072C			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	27	3564	+			1072					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3214C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303309	0.40795	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92911	-3.13;-3.12;-3.08;-3.08;-3.1;-3.13	4.74	3.84	0.44239	.	0.000000	0.85682	D	0.000000	D	0.96106	0.8731	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96298	0.9219	10	0.66056	D	0.02	.	13.2905	0.60269	0.3773:0.6227:0.0:0.0	.	1072;1063	Q14643;G5E9P1	ITPR1_HUMAN;.	C	1072;1057;1072;1063;1063;1048;1057	ENSP00000306253:R1057C;ENSP00000346595:R1072C;ENSP00000405934:R1063C;ENSP00000349597:R1063C;ENSP00000397885:R1048C;ENSP00000401671:R1057C	ENSP00000306253:R1057C	R	+	1	0	ITPR1	4700122	0.188000	0.23250	0.971000	0.41717	0.283000	0.27025	0.795000	0.26972	1.146000	0.42352	0.655000	0.94253	CGT		0.582	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		63	129	0	0	0	0.870114	0	63	129				
SSPO	23145	broad.mit.edu	37	7	149486800	149486800	+	RNA	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:149486800C>T	ENST00000378016.2	+	0	4574							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GATGAGGGGCCGGGACACTGC	0.682																																						ENST00000378016.2																			0													SCO-spondin							27.0	34.0	32.0					7																	149486800		2047	4168	6215			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149486800C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486800C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4574	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				13	28	0	0	0	0.457914	0	13	28				
MARCH1	55016	broad.mit.edu	37	4	164450155	164450155	+	Silent	SNP	G	G	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:164450155G>C	ENST00000503008.1	-	8	1591	c.615C>G	c.(613-615)gcC>gcG	p.A205A	MARCH1_ENST00000514618.1_Silent_p.A461A|RP11-218F10.3_ENST00000609356.1_lincRNA|MARCH1_ENST00000339875.5_Silent_p.A188A|MARCH1_ENST00000274056.7_Silent_p.A205A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	205					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAAGCCAATGGCTACCACAA	0.438																																						ENST00000503008.1																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(613-615)gcC>gcG		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							63.0	61.0	62.0					4																	164450155		2202	4300	6502	SO:0001819	synonymous_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164450155G>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.615C>G	4.37:g.164450155G>C						MARCH1_ENST00000339875.5_Silent_p.A188A|MARCH1_ENST00000514618.1_Silent_p.A461A|MARCH1_ENST00000274056.7_Silent_p.A205A	p.A205A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN			8	1591	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	205					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.615C>G	CCDS54814.1																																																																																				0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		3	45	0	0	0	0.150653	0	3	45				
MISP	126353	broad.mit.edu	37	19	757295	757295	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:757295G>C	ENST00000215582.6	+	2	452	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	117					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGAGGACGGGGAGGACAAGGA	0.667																																						ENST00000215582.6																			0											c.(349-351)Gag>Cag		mitotic spindle positioning							59.0	51.0	53.0					19																	757295		2203	4300	6503	SO:0001583	missense	126353							g.chr19:757295G>C	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.349G>C	19.37:g.757295G>C	ENSP00000215582:p.Glu117Gln						p.E117Q	NM_173481.2	NP_775752.1					2	452	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.349G>C	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737254	0.49045	.	.	ENSG00000099812	ENST00000215582	T	0.17370	2.28	4.1	0.697	0.18081	.	4.121140	0.01792	U	0.032388	T	0.23611	0.0571	M	0.62723	1.935	0.09310	N	1	B	0.32968	0.392	B	0.36534	0.227	T	0.28839	-1.0031	10	0.56958	D	0.05	-5.3336	6.9269	0.24419	0.2995:0.0:0.7005:0.0	.	117	Q8IVT2	CS021_HUMAN	Q	117	ENSP00000215582:E117Q	ENSP00000215582:E117Q	E	+	1	0	C19orf21	708295	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	-0.258000	0.08733	0.020000	0.15106	0.313000	0.20887	GAG		0.667	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		12	21	0	0	0	0.387290	0	12	21				
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846098G>A																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A														0	3456	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	58	0	0	0	0.184627	0	4	58				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			0							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	24	0	0	0	0.150653	0	3	24				
SPTBN5	51332	broad.mit.edu	37	15	42164528	42164528	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr15:42164528G>A	ENST00000320955.6	-	27	5364	c.5137C>T	c.(5137-5139)Cgg>Tgg	p.R1713W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1713					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGTGCCCGCAGCTGCTCC	0.637																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5137-5139)Cgg>Tgg		spectrin, beta, non-erythrocytic 5							33.0	38.0	36.0					15																	42164528		2138	4259	6397	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42164528G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5137C>T	15.37:g.42164528G>A	ENSP00000317790:p.Arg1713Trp						p.R1713W	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	27	5364	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1713						Missense_Mutation	SNP	ENST00000320955.6	37	c.5137C>T		.	.	.	.	.	.	.	.	.	.	.	15.88	2.962378	0.53400	.	.	ENSG00000137877	ENST00000320955	T	0.51817	0.69	4.55	3.63	0.41609	.	0.600513	0.16058	N	0.231625	T	0.47248	0.1435	L	0.54323	1.7	0.09310	N	1	D	0.54047	0.964	P	0.47075	0.536	T	0.37454	-0.9705	10	0.62326	D	0.03	.	8.7274	0.34478	0.107:0.0:0.893:0.0	.	1713	Q9NRC6	SPTN5_HUMAN	W	1713	ENSP00000317790:R1713W	ENSP00000317790:R1713W	R	-	1	2	SPTBN5	39951820	0.602000	0.26916	0.021000	0.16686	0.018000	0.09664	1.571000	0.36450	0.913000	0.36797	-0.291000	0.09656	CGG		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		8	16	0	0	0	0.278610	0	8	16				
OR4K15	81127	broad.mit.edu	37	14	20444378	20444378	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:20444378C>T	ENST00000305051.5	+	1	776	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453																																						ENST00000305051.5																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(700-702)tCc>tTc		olfactory receptor, family 4, subfamily K, member 15							128.0	125.0	126.0					14																	20444378		2203	4300	6503	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444378C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.701C>T	14.37:g.20444378C>T	ENSP00000304077:p.Ser234Phe						p.S234F	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	776	+	all_cancers(95;0.00108)		234					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.701C>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	9.183	1.024000	0.19433	.	.	ENSG00000169488	ENST00000305051	T	0.37584	1.19	4.08	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.139577	0.33346	N	0.005010	T	0.46521	0.1397	M	0.89478	3.035	0.31684	N	0.642767	B	0.17852	0.024	B	0.27262	0.078	T	0.57165	-0.7858	10	0.59425	D	0.04	.	11.307	0.49340	0.0:0.8133:0.1866:0.0	.	234	Q8NH41	OR4KF_HUMAN	F	234	ENSP00000304077:S234F	ENSP00000304077:S234F	S	+	2	0	OR4K15	19514218	0.000000	0.05858	0.900000	0.35374	0.323000	0.28346	-0.712000	0.05013	0.886000	0.36113	0.585000	0.79938	TCC		0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			42	97	0	0	0	0.834066	0	42	97				
CNTNAP3B	728577	broad.mit.edu	37	9	43816717	43816717	+	Missense_Mutation	SNP	G	G	A	rs201844561	byFrequency	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr9:43816717G>A	ENST00000377564.3	+	6	1216	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.V275I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	275	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGGCATTCCGTCCTCATCGA	0.493																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(823-825)Gtc>Atc		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43816717G>A	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.823G>A	9.37:g.43816717G>A	ENSP00000366787:p.Val275Ile					CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.V275I	p.V275I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			6	1216	+			275			Laminin G-like 1.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.823G>A	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726335	0.69074	.	.	ENSG00000154529	ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	D;D	0.84146	-1.81;-1.81	2.77	0.721	0.18219	.	.	.	.	.	D	0.87148	0.6105	M	0.81497	2.545	0.24520	N	0.994169	.	.	.	.	.	.	T	0.78685	-0.2108	7	0.66056	D	0.02	.	6.2273	0.20716	0.1159:0.1891:0.695:0.0	.	.	.	.	I	275	ENSP00000366787:V275I;ENSP00000276974:V275I	ENSP00000276974:V275I	V	+	1	0	CNTNAP3B	43756713	1.000000	0.71417	0.076000	0.20297	0.589000	0.36550	3.492000	0.53259	0.052000	0.16007	0.413000	0.27773	GTC		0.493	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			9	45	0	0	0	0.500413	0	9	45				
UMODL1	89766	broad.mit.edu	37	21	43519136	43519136	+	Silent	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr21:43519136C>T	ENST00000408910.2	+	7	1032	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	UMODL1_ENST00000400424.2_Silent_p.V272V|UMODL1_ENST00000400427.1_Silent_p.V272V|UMODL1_ENST00000408989.2_Silent_p.V344V	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	344	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCCATGTCCGGGTTTACC	0.542																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(814-816)gtC>gtT		uromodulin-like 1							98.0	98.0	98.0					21																	43519136		1944	4133	6077	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519136C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1032C>T	21.37:g.43519136C>T						UMODL1_ENST00000408989.2_Silent_p.V344V|UMODL1_ENST00000400424.1_Silent_p.V272V|UMODL1_ENST00000408910.2_Silent_p.V344V	p.V272V	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			7	1212	+			344			EGF-like 1; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.816C>T	CCDS42936.1																																																																																				0.542	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			32	59	0	0	0	0.750413	0	32	59				
TRPC7	57113	broad.mit.edu	37	5	135693009	135693009	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:135693009G>A	ENST00000513104.1	-	2	349	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R23C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R23C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	23					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGCCTGGCGACGGCCCTTC	0.587																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(67-69)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							44.0	50.0	48.0					5																	135693009		2115	4240	6355	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135693009G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.67C>T	5.37:g.135693009G>A	ENSP00000426070:p.Arg23Cys					TRPC7_ENST00000355180.3_Missense_Mutation_p.R23C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R23C	p.R23C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	349	-			23					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.67C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.44|18.44	3.625400|3.625400	0.66901|0.66901	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.81163|.	-1.24;-1.39;-1.46|.	5.38|5.38	3.45|3.45	0.39498|0.39498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62829|0.62829	0.2460|0.2460	L|L	0.55990|0.55990	1.75|1.75	0.42057|0.42057	D|D	0.991149|0.991149	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.75020|.	0.985;0.969;0.95;0.95|.	T|T	0.62937|0.62937	-0.6748|-0.6748	10|5	0.72032|.	D|.	0.01|.	-12.4279|-12.4279	13.7734|13.7734	0.63039|0.63039	0.0:0.0:0.583:0.417|0.0:0.0:0.583:0.417	.|.	23;23;23;23|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	C|L	23|22	ENSP00000347312:R23C;ENSP00000441628:R23C;ENSP00000426070:R23C|.	ENSP00000265193:R23C|.	R|S	-|-	1|2	0|0	TRPC7|TRPC7	135720908|135720908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.317000|3.317000	0.51968|0.51968	1.486000|1.486000	0.48398|0.48398	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.587	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		37	52	0	0	0	0.779181	0	37	52				
NLRP9	338321	broad.mit.edu	37	19	56249567	56249567	+	Silent	SNP	C	C	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:56249567C>A	ENST00000332836.2	-	1	201	c.174G>T	c.(172-174)ctG>ctT	p.L58L	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	58	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTGTCCAGCAGCTTTGCTA	0.458																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(172-174)ctG>ctT		NLR family, pyrin domain containing 9							385.0	382.0	383.0					19																	56249567		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56249567C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.174G>T	19.37:g.56249567C>A							p.L58L	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	201	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	58			DAPIN.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.174G>T	CCDS12934.1																																																																																				0.458	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		173	158	1	0	2.1706e-81	0.870114	2.27913e-81	173	158				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			0							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	22	0	0	0	0.150653	0	3	22				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	55	0	0	0	0.150653	0	4	55				
AHNAK2	113146	broad.mit.edu	37	14	105420366	105420366	+	Silent	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:105420366G>A	ENST00000333244.5	-	7	1541	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	474						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G474G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATCTGTGTGCCTCCTTCGG	0.522																																						ENST00000333244.5																			1	Substitution - coding silent(1)	p.G474G(1)	lung(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(1420-1422)ggC>ggT		AHNAK nucleoprotein 2							53.0	57.0	56.0					14																	105420366		2003	4177	6180	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420366G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1422C>T	14.37:g.105420366G>A							p.G474G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1541	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	474					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.1422C>T	CCDS45177.1																																																																																				0.522	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	48	0	0	0	0.307466	0	8	48				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		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					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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).|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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	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			19	63	0	0	0	0.592651	0	19	63				
LOC401127	401127	broad.mit.edu	37	4	39482584	39482584	+	RNA	SNP	T	T	C	rs17438520	byFrequency	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:39482584T>C	ENST00000513652.1	+	0	591																											GCCACAAGACTGCTAGCTCAC	0.453													T|||	222	0.0443291	0.003	0.0317	5008	,	,		22560	0.0665		0.0348	False		,,,				2504	0.0961					ENST00000513652.1																			0																																																			0							g.chr4:39482584T>C																													4.37:g.39482584T>C														0	591	+									RNA	SNP	ENST00000513652.1	37																																																																																						0.453	RP11-472B18.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361032.1			3	32	0	0	0	0.115264	0	3	32				
IDI1	3422	broad.mit.edu	37	10	1089327	1089327	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr10:1089327A>G	ENST00000381344.3	-	3	486	c.320T>C	c.(319-321)tTg>tCg	p.L107S	IDI2-AS1_ENST00000536039.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	50	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGCTCGATGCAATAATCCTGA	0.348																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(319-321)tTg>tCg		isopentenyl-diphosphate delta isomerase 1							75.0	77.0	76.0					10																	1089327		2203	4300	6503	SO:0001583	missense	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1089327A>G	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.320T>C	10.37:g.1089327A>G	ENSP00000370748:p.Leu107Ser					IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	p.L107S	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	3	486	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	50			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Missense_Mutation	SNP	ENST00000381344.3	37	c.320T>C	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037465	0.75617	.	.	ENSG00000067064	ENST00000381344;ENST00000427898;ENST00000429642	.	.	.	4.57	4.57	0.56435	.	0.071853	0.53938	D	0.000043	D	0.88392	0.6424	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92573	0.6068	9	0.87932	D	0	-34.8501	13.8741	0.63643	1.0:0.0:0.0:0.0	.	107	Q13907-2	.	S	107;21;50	.	ENSP00000370748:L107S	L	-	2	0	IDI1	1079327	0.962000	0.33011	0.989000	0.46669	0.778000	0.44026	8.009000	0.88606	1.806000	0.52798	0.482000	0.46254	TTG		0.348	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		19	27	0	0	0	0.592651	0	19	27				
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		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)				AAGCGGCACCGGGCCCTGGTC	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	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						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66.0	65.0	65.0					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	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.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	15	0	0	0	0.592651	0	21	15				
MYLK	4638	broad.mit.edu	37	3	123419711	123419711	+	Silent	SNP	G	G	A	rs372924929		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:123419711G>A	ENST00000475616.1	-	15	2603	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYLK_ENST00000360772.3_Silent_p.D868D|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Silent_p.D868D|MYLK_ENST00000346322.5_Silent_p.D799D|MYLK_ENST00000359169.1_Silent_p.D868D			Q15746	MYLK_HUMAN	myosin light chain kinase	868	5 X 28 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCCTCGCACGTCCTCGCCGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		13829	0.001		0.0	False		,,,				2504	0.0					ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(2602-2604)gaC>gaT		myosin light chain kinase		G	,,,	1,4405	2.1+/-5.4	0,1,2202	66.0	69.0	68.0		2604,2397,2604,2397	2.8	1.0	3		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	868/1915,799/1846,868/1864,799/1795	123419711	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419711G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2604C>T	3.37:g.123419711G>A						MYLK_ENST00000475616.1_Silent_p.D868D|MYLK_ENST00000360304.3_Silent_p.D868D|MYLK_ENST00000359169.1_Silent_p.D868D|MYLK_ENST00000346322.5_Silent_p.D799D	p.D868D			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	2982	-		Lung NSC(201;0.0496)	868			5 X 28 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.2604C>T	CCDS46896.1																																																																																				0.652	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		31	74	0	0	0	0.804634	0	31	74				
CYP21A1P	1590	broad.mit.edu	37	6	31975129	31975129	+	5'Flank	SNP	T	T	C	rs554092943	byFrequency	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr6:31975129T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							AAGAGGGCTCTGGACAGCTCC	0.607													T|||	512	0.102236	0.2307	0.0994	5008	,	,		16076	0.0149		0.0815	False		,,,				2504	0.0419					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975129T>C																													6.37:g.31975129T>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1252	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.607	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				4	82	0	0	0	0.150653	0	4	82				
CDKN2C	1031	broad.mit.edu	37	1	51439758	51439758	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:51439758A>G	ENST00000262662.1	+	4	2357	c.323A>G	c.(322-324)cAc>cGc	p.H108R	CDKN2C_ENST00000371761.3_Missense_Mutation_p.H108R|CDKN2C_ENST00000396148.1_Missense_Mutation_p.H108R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	108					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CTGCCCTTGCACTTGGCTGCC	0.552			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(322-324)cAc>cGc		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							72.0	68.0	69.0					1																	51439758		2203	4300	6503	SO:0001583	missense	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439758A>G	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.323A>G	1.37:g.51439758A>G	ENSP00000262662:p.His108Arg					CDKN2C_ENST00000396148.1_Missense_Mutation_p.H108R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.H108R	p.H108R			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2357	+			108					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.323A>G	CCDS555.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508355	0.85282	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.71461	-0.57;-0.57;-0.57	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87489	0.6190	M	0.91872	3.25	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.89987	0.4105	10	0.66056	D	0.02	-7.4847	16.2127	0.82178	1.0:0.0:0.0:0.0	.	108	P42773	CDN2C_HUMAN	R	108	ENSP00000262662:H108R;ENSP00000379452:H108R;ENSP00000360826:H108R	ENSP00000262662:H108R	H	+	2	0	CDKN2C	51212346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.079000	0.89508	2.236000	0.73375	0.533000	0.62120	CAC		0.552	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		9	9	0	0	0	0.307466	0	9	9				
DAO	1610	broad.mit.edu	37	12	109294236	109294236	+	Silent	SNP	C	C	T	rs200028465		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr12:109294236C>T	ENST00000228476.3	+	11	1173	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DAO_ENST00000551281.1_Silent_p.A257A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	323					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GGGGATGTGCCCTGGAGGCAG	0.572																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(967-969)gcC>gcT		D-amino-acid oxidase							106.0	91.0	96.0					12																	109294236		2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109294236C>T	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.969C>T	12.37:g.109294236C>T						DAO_ENST00000551281.1_Silent_p.A257A	p.A323A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			11	1173	+			323					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.969C>T	CCDS9122.1																																																																																				0.572	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			18	90	0	0	0	0.539581	0	18	90				
ADCY8	114	broad.mit.edu	37	8	131922058	131922058	+	Silent	SNP	G	G	A	rs150100724		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:131922058G>A	ENST00000286355.5	-	6	3628	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_ENST00000377928.3_Silent_p.S512S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	512					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1534-1536)tcC>tcT		adenylate cyclase 8 (brain)		T		0,4406		0,0,2203	231.0	179.0	197.0		1536	-11.9	0.0	8	dbSNP_134	197	5,8595		0,5,4295	no	coding-synonymous	ADCY8	NM_001115.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		512/1252	131922058	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131922058G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1536C>T	8.37:g.131922058G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.S512S	p.S512S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		6	3628	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		512						Silent	SNP	ENST00000286355.5	37	c.1536C>T	CCDS6363.1																																																																																				0.473	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			5	113	0	0	0	0.184627	0	5	113				
CHD8	57680	broad.mit.edu	37	14	21868155	21868155	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:21868155C>T	ENST00000557364.1	-	25	5065	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.G1322E|CHD8_ENST00000399982.2_Missense_Mutation_p.G1601E|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1601					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCGCACCCCCTAACACCTT	0.423																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(4801-4803)gGg>gAg		chromodomain helicase DNA binding protein 8							205.0	199.0	201.0					14																	21868155		1869	4113	5982	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21868155C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4802G>A	14.37:g.21868155C>T	ENSP00000451601:p.Gly1601Glu					CHD8_ENST00000557364.1_Missense_Mutation_p.G1601E|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.G1322E	p.G1601E	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	24	4866	-	all_cancers(95;0.00121)		1601					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4802G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	0.517	-0.864089	0.02590	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.85556	-2.0;-2.0;-2.0	5.3	5.3	0.74995	.	0.181464	0.49305	D	0.000160	T	0.58337	0.2115	N	0.00661	-1.28	0.33416	D	0.579272	B	0.10296	0.003	B	0.17433	0.018	T	0.60388	-0.7273	10	0.02654	T	1	-19.7937	14.1109	0.65121	0.0:0.8484:0.1516:0.0	.	1322	Q9HCK8-2	.	E	1322;1601;1321;1601	ENSP00000406288:G1322E;ENSP00000382863:G1601E;ENSP00000451601:G1601E	ENSP00000262707:G1321E	G	-	2	0	CHD8	20937995	0.184000	0.23200	1.000000	0.80357	0.998000	0.95712	1.322000	0.33689	2.748000	0.94277	0.655000	0.94253	GGG		0.423	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		71	180	0	0	0	0.870114	0	71	180				
DCANP1	140947	broad.mit.edu	37	5	134785348	134785348	+	5'Flank	SNP	C	C	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:134785348C>T	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Silent_p.L94L|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCTGCTCCAGGTACCTCA	0.607																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(280-282)ctG>ctA		TRAF-interacting protein with forkhead-associated domain, family member B							99.0	103.0	102.0					5																	134785348		2118	4224	6342	SO:0001631	upstream_gene_variant	497189							g.chr5:134785348C>T																													5.37:g.134785348C>T	Exception_encountered						p.L94L	NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	482	-			94						Silent	SNP	ENST00000503143.2	37	c.282G>A	CCDS4186.1																																																																																				0.607	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			49	108	0	0	0	0.870114	0	49	108				
FUBP1	8880	broad.mit.edu	37	1	78426058	78426059	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:78426058_78426059insT	ENST00000370768.2	-	15	1547_1548	c.1466_1467insA	c.(1465-1467)tatfs	p.Y489fs	FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.Y489fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.Y510fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	489	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCAGGATTATAAGGTGCAGG	0.545			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1465-1467)taafs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78426058_78426059insT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1467dupA	1.37:g.78426059_78426059dupT	ENSP00000359804:p.Tyr489fs					FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.*489fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.*510fs	p.*489fs			Q96AE4	FUBP1_HUMAN			15	1553_1554	-			489			Pro-rich.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.1466_1467insA	CCDS683.1																																																																																				0.545	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		13	6						13	6	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			11	33						11	33	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						0					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		4	4						4	4	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	143						7	143	---	---	---	---
RNF151	146310	broad.mit.edu	37	16	2018730	2018730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr16:2018730delC	ENST00000569714.1	+	4	550	c.542delC	c.(541-543)tccfs	p.S181fs	RNF151_ENST00000321392.3_Frame_Shift_Del_p.S180fs|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	181					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						CTGCTGCTGTCCCTCCTGCGG	0.687																																						ENST00000569714.1																			0				kidney(1)|lung(1)	2						c.(541-543)tcfs		ring finger protein 151							6.0	7.0	6.0					16																	2018730		2054	4127	6181	SO:0001589	frameshift_variant	146310				cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2018730delC	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"""RING-type (C3HC4) zinc fingers"""	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.542delC	16.37:g.2018730delC	ENSP00000456566:p.Ser181fs					RNF151_ENST00000321392.3_Frame_Shift_Del_p.S180fs|RNF151_ENST00000569210.2_3'UTR	p.S181fs	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN			4	550	+			181					Q8NHS5	Frame_Shift_Del	DEL	ENST00000569714.1	37	c.542delC	CCDS58405.1																																																																																				0.687	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		2	4						2	4	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418														73	0.0193377	0.0121	0.0086	3775	,	,		10483	0.0139		0.0149	False		,,,				2504	0.0225					ENST00000412436.1																			0																																																			0							g.chrX:154578866delT																													X.37:g.154578866delT						RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			4	5						4	5	---	---	---	---
