#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
DMBT1	1755	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	124390734	124390734	+	Missense_Mutation	SNP	C	C	T	rs369082605		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr10:124390734C>T	ENST00000338354.3	+	46	6002	c.5896C>T	c.(5896-5898)Cgg>Tgg	p.R1966W	DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1966W			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1966	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCAGTGCCGGAACCGAGG	0.542																																					Ovarian(182;93 2026 18125 22222 38972)											0								C	TRP/ARG,TRP/ARG,TRP/ARG	1,4083		0,1,2041	152.0	149.0	150.0		4012,5896,5866	0.1	0.0	10		150	0,8384		0,0,4192	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	101,101,101	0,1,6233	TT,TC,CC		0.0,0.0245,0.0080	probably-damaging,probably-damaging,probably-damaging	1338/1786,1966/2414,1956/2404	124390734	1,12467	2042	4192	6234	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5896C>T	10.37:g.124390734C>T	ENSP00000342210:p.Arg1966Trp		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	C	15.08	2.728344	0.48833	2.45E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.56	0.0554	0.14315	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.53738	0.1815	M	0.66439	2.03	0.09310	N	1	D;P;B;P;B;D;P	0.89917	1.0;0.5;0.055;0.763;0.047;0.999;0.607	D;B;B;B;B;D;B	0.76575	0.972;0.066;0.007;0.326;0.005;0.988;0.17	T	0.38585	-0.9654	9	0.59425	D	0.04	.	2.9609	0.05891	0.1149:0.5176:0.112:0.2555	.	686;1946;1215;2095;1338;1956;1966	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	W	1966;2095;1966;1966;1966;1966;1338;1956;1338;1338;1966;1956;1338;112;686	ENSP00000342210:R1966W;ENSP00000343175:R1956W;ENSP00000327747:R1338W;ENSP00000357905:R1966W;ENSP00000357951:R1956W;ENSP00000357952:R1338W;ENSP00000352593:R686W	ENSP00000331522:R1338W	R	+	1	2	DMBT1	124380724	0.000000	0.05858	0.042000	0.18584	0.834000	0.47266	-0.730000	0.04915	0.268000	0.21939	0.650000	0.86243	CGG		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		32	38	32	38
NLRP6	171389	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	281637	281637	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:281637C>T	ENST00000312165.5	+	4	1903	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	NLRP6_ENST00000534750.1_Missense_Mutation_p.R635C	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	635					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCGTTTGTGCGCCAAGCCCT	0.647																																																0													95.0	105.0	102.0					11																	281637		2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1903C>T	11.37:g.281637C>T	ENSP00000309767:p.Arg635Cys		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267121	0.23136	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.54479	0.57;0.57	2.93	-1.78	0.07957	.	0.860575	0.09458	N	0.799428	T	0.54581	0.1867	M	0.77103	2.36	0.37920	D	0.931665	D;D	0.71674	0.998;0.997	P;P	0.50754	0.505;0.649	T	0.61392	-0.7072	10	0.72032	D	0.01	.	1.415	0.02299	0.3737:0.3213:0.1835:0.1215	.	635;635	E9PJZ8;P59044	.;NALP6_HUMAN	C	635	ENSP00000433617:R635C;ENSP00000309767:R635C	ENSP00000309767:R635C	R	+	1	0	NLRP6	271637	0.000000	0.05858	0.162000	0.22713	0.773000	0.43773	-1.027000	0.03592	-0.358000	0.08162	0.462000	0.41574	CGC		0.647	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		33	90	33	90
EXPH5	23086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	108381471	108381471	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:108381471C>A	ENST00000265843.4	-	6	4873	c.4763G>T	c.(4762-4764)aGa>aTa	p.R1588I	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1588					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGAAGATCTATTTTCCCC	0.423																																																0													181.0	166.0	171.0					11																	108381471		2201	4298	6499	SO:0001583	missense	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4763G>T	11.37:g.108381471C>A	ENSP00000265843:p.Arg1588Ile		Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548378	0.45383	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.06608	3.51;3.43;3.28;3.51;3.29	5.96	3.04	0.35103	.	0.160364	0.45126	D	0.000392	T	0.14614	0.0353	M	0.66939	2.045	0.44309	D	0.997188	D	0.63046	0.992	P	0.56648	0.803	T	0.00681	-1.1612	10	0.49607	T	0.09	-6.243	7.9227	0.29857	0.0:0.728:0.132:0.14	.	1588	Q8NEV8	EXPH5_HUMAN	I	1588;1512;1400;1581;1512	ENSP00000265843:R1588I;ENSP00000391966:R1512I;ENSP00000411390:R1400I;ENSP00000432546:R1581I;ENSP00000432683:R1512I	ENSP00000265843:R1588I	R	-	2	0	EXPH5	107886681	0.967000	0.33354	0.002000	0.10522	0.004000	0.04260	1.229000	0.32600	0.397000	0.25310	0.655000	0.94253	AGA		0.423	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		44	103	44	103
LRRC43	254050	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	122685392	122685392	+	Missense_Mutation	SNP	C	C	A	rs374268516		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:122685392C>A	ENST00000339777.4	+	10	1748	c.1720C>A	c.(1720-1722)Ccc>Acc	p.P574T	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T|B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	574										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GATCCTGGAGCCCCTGCTCGC	0.667																																																0													27.0	34.0	31.0					12																	122685392		1962	4128	6090	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1720C>A	12.37:g.122685392C>A	ENSP00000344233:p.Pro574Thr		Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069721	0.36470	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.55760	0.5;0.93	5.31	3.18	0.36537	.	0.501537	0.21091	N	0.080310	T	0.42877	0.1222	M	0.62723	1.935	0.26831	N	0.968579	B	0.26708	0.157	B	0.24006	0.05	T	0.27191	-1.0081	10	0.27082	T	0.32	-26.7593	4.7911	0.13248	0.2743:0.5497:0.0:0.176	.	574	Q8N309	LRC43_HUMAN	T	574;445;389	ENSP00000344233:P574T;ENSP00000416628:P389T	ENSP00000289014:P445T	P	+	1	0	LRRC43	121251345	0.086000	0.21541	1.000000	0.80357	0.269000	0.26545	-0.205000	0.09411	1.062000	0.40625	0.650000	0.86243	CCC		0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		26	37	26	37
TP53	7157	hgsc.bcm.edu;broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	6	17	6
KLHL14	57565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	30349853	30349853	+	Silent	SNP	C	C	T	rs369667242		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr18:30349853C>T	ENST00000359358.4	-	2	1140	c.702G>A	c.(700-702)tcG>tcA	p.S234S	KLHL14_ENST00000358095.4_Silent_p.S234S|AC012123.1_ENST00000426194.1_Silent_p.S27S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	234	BACK.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCGCCAGCTCCGACTCCACGG	0.652																																																0								C		0,4406		0,0,2203	43.0	37.0	39.0		702	3.1	1.0	18		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL14	NM_020805.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		234/629	30349853	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57565			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.702G>A	18.37:g.30349853C>T			A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	CCDS32813.1																																																																																				0.652	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			15	24	15	24
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	237753198	237753198	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr1:237753198G>T	ENST00000366574.2	+	30	4021	c.3704G>T	c.(3703-3705)gGc>gTc	p.G1235V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1235	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACAAGAGGGCTATGAACCA	0.433																																																0													113.0	109.0	111.0					1																	237753198		1918	4124	6042	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3704G>T	1.37:g.237753198G>T	ENSP00000355533:p.Gly1235Val		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	18.67	3.674392	0.67928	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98150	-4.75;-4.74;-4.74	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	D	0.97195	0.9083	M	0.78049	2.395	0.80722	D	1	B	0.20671	0.047	B	0.16722	0.016	D	0.95182	0.8300	10	0.87932	D	0	.	19.3668	0.94466	0.0:0.0:1.0:0.0	.	1235	Q92736	RYR2_HUMAN	V	1235;1233;1219	ENSP00000355533:G1235V;ENSP00000353174:G1233V;ENSP00000443798:G1219V	ENSP00000353174:G1233V	G	+	2	0	RYR2	235819821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.804000	0.99143	2.564000	0.86499	0.650000	0.86243	GGC		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	33	4	33
SSB	6741	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	170665016	170665016	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:170665016T>A	ENST00000409333.1	+	7	826	c.579T>A	c.(577-579)aaT>aaA	p.N193K	SSB_ENST00000260956.4_Missense_Mutation_p.N193K			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	193					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCAAAAAAAATGAAGAAAGAA	0.318																																																0													80.0	82.0	81.0					2																	170665016		2203	4300	6503	SO:0001583	missense	6741				CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.579T>A	2.37:g.170665016T>A	ENSP00000386636:p.Asn193Lys		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	T	8.511	0.866482	0.17250	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333;ENST00000544688	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	.	0.196836	0.53938	D	0.000053	T	0.31136	0.0787	L	0.43152	1.355	0.50813	D	0.999895	P;B	0.37423	0.594;0.394	B;B	0.33454	0.164;0.164	T	0.12967	-1.0527	10	0.06099	T	0.92	-25.8	15.1124	0.72368	0.0:0.0:0.0:1.0	.	193;193	E9PFH8;P05455	.;LA_HUMAN	K	193;193;193;52	ENSP00000260956:N193K;ENSP00000386636:N193K	ENSP00000260956:N193K	N	+	3	2	SSB	170373262	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.434000	0.44802	2.222000	0.72286	0.383000	0.25322	AAT		0.318	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		9	44	9	44
INO80D	54891	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	206921218	206921218	+	Missense_Mutation	SNP	G	G	A	rs371646344		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:206921218G>A	ENST00000403263.1	-	4	1072	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	223					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGCGGTGGCGCTGGAGGTTT	0.562																																																0								G	VAL/ALA	0,4162		0,0,2081	64.0	68.0	67.0		668	3.9	1.0	2		67	1,8459		0,1,4229	no	missense	INO80D	NM_017759.4	64	0,1,6310	AA,AG,GG		0.0118,0.0,0.0079	benign	223/1028	206921218	1,12621	2081	4230	6311	SO:0001583	missense	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.668C>T	2.37:g.206921218G>A	ENSP00000384198:p.Ala223Val		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158055	0.38119	0.0	1.18E-4	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.32272	1.49;1.46	5.84	3.92	0.45320	.	0.464964	0.25369	N	0.031164	T	0.17023	0.0409	N	0.08118	0	0.35457	D	0.796177	B	0.17667	0.023	B	0.10450	0.005	T	0.10823	-1.0613	10	0.17832	T	0.49	.	16.1163	0.81306	0.0:0.4173:0.5827:0.0	.	223	Q53TQ3-2	.	V	223;223;118	ENSP00000384198:A223V;ENSP00000402369:A118V	ENSP00000233270:A223V	A	-	2	0	INO80D	206629463	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.630000	0.46494	1.459000	0.47892	0.655000	0.94253	GCG		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		7	18	7	18
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	43	28	43
TBX18	9096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	85448225	85448225	+	Silent	SNP	A	A	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr6:85448225A>T	ENST00000369663.5	-	7	1426	c.1089T>A	c.(1087-1089)atT>atA	p.I363I	TBX18_ENST00000606784.1_Silent_p.I205I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	363					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGCTTGGGAATTCCAGGGA	0.438																																																0													219.0	207.0	211.0					6																	85448225		2203	4300	6503	SO:0001819	synonymous_variant	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1089T>A	6.37:g.85448225A>T			A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	CCDS34495.1																																																																																				0.438	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		75	143	75	143
TTYH3	80727	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	2696109	2696109	+	Silent	SNP	C	C	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:2696109C>G	ENST00000258796.7	+	11	1396	c.1191C>G	c.(1189-1191)gtC>gtG	p.V397V	TTYH3_ENST00000407643.1_Silent_p.V365V|TTYH3_ENST00000403167.1_Silent_p.V226V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	397					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCTCCTTCGTCACAGCCCTCA	0.642																																																0													97.0	85.0	89.0					7																	2696109		2203	4300	6503	SO:0001819	synonymous_variant	80727				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1191C>G	7.37:g.2696109C>G			A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	CCDS34588.1																																																																																				0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		11	101	11	101
CALCR	799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	93072938	93072938	+	Silent	SNP	C	C	G	rs149950588		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:93072938C>G	ENST00000394441.1	-	8	1095	c.780G>C	c.(778-780)cgG>cgC	p.R260R	CALCR_ENST00000360249.4_Silent_p.R276R|CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000359558.2_Silent_p.R294R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R260R(1)|p.R294R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GATAATACCACCGCAAGCGTT	0.443																																																2	Substitution - coding silent(2)	lung(2)											118.0	111.0	113.0					7																	93072938		2203	4300	6503	SO:0001819	synonymous_variant	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.780G>C	7.37:g.93072938C>G			A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	CCDS5631.1																																																																																				0.443	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		24	59	24	59
SPATA31D1	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	84608693	84608693	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr9:84608693A>G	ENST00000344803.2	+	4	3355	c.3308A>G	c.(3307-3309)aAa>aGa	p.K1103R		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1103					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCAGTCAGAAACAGACTGTA	0.493																																																0													55.0	56.0	56.0					9																	84608693		1956	4157	6113	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3308A>G	9.37:g.84608693A>G	ENSP00000341988:p.Lys1103Arg			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.773393	0.00640	.	.	ENSG00000214929	ENST00000344803	T	0.04706	3.57	2.31	-1.87	0.07737	.	.	.	.	.	T	0.01730	0.0055	N	0.03608	-0.345	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.48258	-0.9051	9	0.15952	T	0.53	-0.1768	2.877	0.05634	0.4514:0.2424:0.3062:0.0	.	1103	Q6ZQQ2	F75D1_HUMAN	R	1103	ENSP00000341988:K1103R	ENSP00000341988:K1103R	K	+	2	0	FAM75D1	83798513	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.172000	0.01266	-0.350000	0.08262	-0.397000	0.06425	AAA		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		15	41	15	41
CYP4F3	4051	broad.mit.edu;ucsc.edu	37	19	15752394	15752394	+	Missense_Mutation	SNP	C	C	T	rs138587161	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:15752394C>T	ENST00000221307.8	+	2	216	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	57					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACCCCCGAAACGGAATTGGTT	0.622													.|||	2	0.000399361	0.0	0.0	5008	,	,		16188	0.0		0.0	False		,,,				2504	0.002															0								C	TRP/ARG,TRP/ARG,TRP/ARG	4,4402		0,4,2199	51.0	55.0	54.0		169,169,169	-3.6	0.0	19	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense,missense	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	101,101,101	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	57/521,57/521,57/521	15752394	4,13002	2203	4300	6503	SO:0001583	missense	4051			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.169C>T	19.37:g.15752394C>T	ENSP00000221307:p.Arg57Trp		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.397386	0.25205	9.08E-4	0.0	ENSG00000186529	ENST00000221307	D	0.88431	-2.38	3.9	-3.61	0.04556	.	0.389849	0.20343	U	0.094193	T	0.81422	0.4819	L	0.50333	1.59	0.09310	N	0.999998	B;B	0.23128	0.033;0.08	B;B	0.24269	0.032;0.052	T	0.70414	-0.4878	10	0.51188	T	0.08	.	6.8375	0.23945	0.5056:0.3975:0.0:0.0969	.	57;57	B7Z8Z3;Q08477	.;CP4F3_HUMAN	W	57	ENSP00000221307:R57W	ENSP00000221307:R57W	R	+	1	2	CYP4F3	15613394	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	-0.343000	0.07791	-0.186000	0.10533	-0.474000	0.04947	CGG		0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		6	62	6	62
CRADD	8738	broad.mit.edu;ucsc.edu	37	12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	rs141179774		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.001	False		,,,				2504	0.0															0								G	HIS/ARG	0,4406		0,0,2203	47.0	44.0	45.0		509	4.7	1.0	12	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CRADD	NM_003805.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	170/200	94243956	2,13004	2203	4300	6503	SO:0001583	missense	8738			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.509G>A	12.37:g.94243956G>A	ENSP00000439068:p.Arg170His		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581119	0.86748	0.0	2.33E-4	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.86865	-2.18;-2.18	5.76	4.69	0.59074	Death (3);DEATH-like (2);	0.275697	0.37261	N	0.002177	D	0.88291	0.6397	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.49597	0.616	D	0.89748	0.3938	10	0.87932	D	0	-17.7443	15.6915	0.77457	0.0762:0.0:0.9238:0.0	.	170	P78560	CRADD_HUMAN	H	170	ENSP00000327647:R170H;ENSP00000439068:R170H	ENSP00000327647:R170H	R	+	2	0	CRADD	92768087	0.993000	0.37304	0.997000	0.53966	0.967000	0.64934	2.179000	0.42528	2.724000	0.93272	0.563000	0.77884	CGC		0.637	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		22	28	22	28
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76938452	76938453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chrX:76938452_76938453insT	ENST00000373344.5	-	9	2509_2510	c.2295_2296insA	c.(2293-2298)tatgatfs	p.D766fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D728fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	766					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GTCTTTAAATCATACAAAGTCT	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2295_2296insA	X.37:g.76938452_76938453insT	ENSP00000362441:p.Asp766fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.356	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		83	39	83	39
